Cardiomyopathy
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Genes associated with Cardiomyopathy:-
MYBPC3
- Genotator Score: 57.5
- Description: "myosin binding protein C, cardiac"
- Chromosome: 11, Band: 11p11.2
- Gene Synonyms: CMH4, DKFZp779E1762, FHC, MYBP-C
- Other Descriptions: "myosin-binding protein C, cardiac"
- Cross-references: NCBI: 4607, Ensembl:
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Evidence:
- Pubmed Ids: 20019025, 19853701, 19875404, 20031618, 20128375, 20021930, 19666645, 19808356, 19293840, 19150014, 19151713, 19356534, 19149795, 18929575, 19035361, 18803133, 18513529, 18403758, 18337725, 18383048, 16754800, 16566405, 16087648, 16199542, 15737656, 15671604, 15563892, 15519027, 14563344,
- HuGE Navigator Score: 0.487
- GAD counts: yes=3, no=0, null=7
- Evidence Sources: GeneCards, HuGE Navigator, WikiGenes, GAD
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MYH7
- Genotator Score: 54.8
- Description: "myosin, heavy chain 7, cardiac muscle, beta"
- Chromosome: 14, Band: 14q12
- Gene Synonyms: CMD1S, CMH1, DKFZp451F047, MGC138376, MGC138378, MPD1, MYHCB, SPMD, SPMM
- Other Descriptions: "OTTHUMP00000027949, beta-myosin heavy chain, myhc-slow, myopathy, distal 1, myosin heavy chain (AA 1-96), myosin, heavy polypeptide 7, cardiac muscle, beta, rhabdomyosarcoma antigen MU-RMS-40.7A"
- Cross-references: NCBI: 4625, Ensembl: ENSG00000092054
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Evidence:
- Pubmed Ids: 20086309, 19880069, 19853701, 19875404, 20031618, 19666645, 19808356, 19449150, 19293840, 19150014, 19149795, 19035361, 18953637, 18506004, 18513529, 19412328, 18403758, 18383048, 16754800, 16087648, 16199542, 15940186, 15856146, 15858117, 15769782, 15563892, 12820698, 12473556, 12081993, 12084606,
- HuGE Navigator Score: 0.478
- GAD counts: yes=1, no=0, null=10
- Evidence Sources: OMIM, GeneCards, HuGE Navigator, WikiGenes, GAD
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TNNT2
- Genotator Score: 47.9
- Description: troponin T type 2 (cardiac)
- Chromosome: 1, Band: 1q32
- Gene Synonyms: CMH2, CMPD2, MGC3889, RCM3, TnTC, cTnT
- Other Descriptions: "OTTHUMP00000033864, OTTHUMP00000033867, cardiomyopathy, dilated 1D (autosomal dominant), cardiomyopathy, hypertrophic 2, troponin T type 2, cardiac, troponin T, cardiac muscle, troponin T2, cardiac"
- Cross-references: NCBI: 7139, Ensembl: ENSG00000118194
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Evidence:
- Pubmed Ids: 20038417, 19880069, 19853701, 19875404, 20031618, 19293840, 19150014, 19149795, 19253838, 19035361, 18506004, 18513529, 19412328, 18403758, 17101185, 16754800, 16789403, 16199542, 15769782, 15563892, 15387941, 14986170, 14636924, 12473556, 12084606,
- HuGE Navigator Score: 0.399
- GAD counts: yes=3, no=0, null=5
- Evidence Sources: OMIM, GeneCards, HuGE Navigator, GenAtlas, WikiGenes, GAD
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HLA-DRB1
- Genotator Score: 36.1
- Description: "major histocompatibility complex, class II, DR beta 1"
- Chromosome: 6, Band: 6p21.3
- Gene Synonyms: DRB1, DRw10, FLJ75017, FLJ76359, HLA-DR1B, HLA-DRB, HLA-DRB1*, SS1
- Other Descriptions: "Clone P2-beta-4, HLA class II antigen beta chain, HLA class II histocompatibility antigen, DR-1 beta chain, HLA class II histocompatibility antigen, DRB1-10 beta chain, HLA-DR-beta 1, MHC class II HLA-DR beta 1 chain, MHC class II HLA-DR-beta cell surface glycoprotein, MHC class II HLA-DRw10-beta, MHC class II antigen HLA-DR13, cell surface glycoprotein, human leucocyte antigen DRB1, leucocyte antigen DR beta 1 chain, leucocyte antigen DRB1, lymphocyte antigen DRB1"
- Cross-references: NCBI: 3123, Ensembl: ENSG00000206240
- Evidence:
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TNNI3
- Genotator Score: 35.9
- Description: troponin I type 3 (cardiac)
- Chromosome: 19, Band: 19q13.4
- Gene Synonyms: CMD2A, CMH7, MGC116817, RCM1, TNNC1, cTnI
- Other Descriptions: "familial hypertrophic cardiomyopathy 7, troponin I, cardiac"
- Cross-references: NCBI: 7137, Ensembl: ENSG00000129991
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Evidence:
- Pubmed Ids: 20086309, 19853701, 19875404, 20031618, 19590045, 19449150, 19293840, 19150014, 19149795, 19035361, 18513529, 18403758, 18175163, 17101185, 16754800, 16199542,
- HuGE Navigator Score: 0.327
- GAD counts: yes=0, no=0, null=1
- Evidence Sources: OMIM, GeneCards, HuGE Navigator, PharmGKB, WikiGenes, GAD
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LMNA
- Genotator Score: 33.4
- Description: lamin A/C
- Chromosome: 1, Band: 1q21.2-q21.3
- Gene Synonyms: CDCD1, CDDC, CMD1A, CMT2B1, EMD2, FPL, FPLD, HGPS, IDC, LDP1, LFP, LGMD1B, LMN1, LMNC, PRO1
- Other Descriptions: 70 kDa lamin, OTTHUMP00000015843, OTTHUMP00000015848
- Cross-references: NCBI: 4000, Ensembl: ENSG00000160789
- Evidence:
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ACE
- Genotator Score: 28.6
- Description: angiotensin I converting enzyme (peptidyl-dipeptidase A) 1
- Chromosome: 17, Band: 17q23.3
- Gene Synonyms: ACE1, CD143, DCP, DCP1, MGC26566, MVCD3
- Other Descriptions: "CD143 antigen, angiotensin I converting enzyme 1, angiotensin converting enzyme, somatic isoform, carboxycathepsin, dipeptidyl carboxypeptidase 1, kininase II, peptidase P, testicular ECA"
- Cross-references: NCBI: 1636, Ensembl: ENSG00000159640
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Evidence:
- Pubmed Ids: 19853701, 19442892, 19390744, 19268079, 18165925, 17851694, 17579251, 16789598, 16614502, 16087648, 15721506, 15314809, 14767579, 15055254, 14602526, 12442545, 12356632, 12204015, 12166654, 12031704, 11696658,
- HuGE Navigator Score: 0.264
- GAD counts: yes=1, no=3, null=2
- Evidence Sources: HuGE Navigator, GAD
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PLN
- Genotator Score: 22.0
- Description: phospholamban
- Chromosome: 6, Band: 6q22.1
- Gene Synonyms: CMD1P, PLB
- Other Descriptions: OTTHUMP00000017092, cardiac phospholamban
- Cross-references: NCBI: 5350, Ensembl: ENSG00000198523
- Evidence:
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TPM1
- Genotator Score: 20.7
- Description: tropomyosin 1 (alpha)
- Chromosome: 15, Band: 15q22.1
- Gene Synonyms: C15orf13, CMD1Y, HTM-alpha, TMSA
- Other Descriptions: "alpha tropomyosin, cardiomyopathy, hypertrophic 3, sarcomeric tropomyosin kappa, tropomyosin 1 alpha chain"
- Cross-references: NCBI: 7168, Ensembl: ENSG00000140416
- Evidence:
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ADRB1
- Genotator Score: 20.5
- Description: "adrenergic, beta-1-, receptor"
- Chromosome: 10, Band: 10q24-q26
- Gene Synonyms: ADRB1R, B1AR, BETA1AR, RHR
- Other Descriptions: OTTHUMP00000020519, beta-1-adrenergic receptor
- Cross-references: NCBI: 153, Ensembl: ENSG00000043591
- Evidence:
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HFE
- Genotator Score: 19.2
- Description: hemochromatosis
- Chromosome: 6, Band: 6p21.3
- Gene Synonyms: HFE1, HH, HLA-H, MGC103790, MVCD7, dJ221C16.10.1
- Other Descriptions: MHC class I-like protein HFE, hemochromatosis protein, hereditary hemochromatosis protein HLA-H, high Fe
- Cross-references: NCBI: 3077, Ensembl: ENSG00000010704
- Evidence:
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TNF
- Genotator Score: 17.2
- Description: "tumor necrosis factor (TNF superfamily, member 2)"
- Chromosome: 6, Band: 6p21.3
- Gene Synonyms: DIF, TNF-alpha, TNFA, TNFSF2
- Other Descriptions: "APC1 protein, OTTHUMP00000029281, OTTHUMP00000037669, TNF superfamily, member 2, TNF, macrophage-derived, TNF, monocyte-derived, cachectin, tumor necrosis factor alpha"
- Cross-references: NCBI: 7124, Ensembl: ENSG00000204490
- Evidence:
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CSRP3
- Genotator Score: 16.1
- Description: cysteine and glycine-rich protein 3 (cardiac LIM protein)
- Chromosome: 11, Band: 11p15.1
- Gene Synonyms: CLP, CMD1M, CMH12, CRP3, LMO4, MGC14488, MGC61993, MLP
- Other Descriptions: LIM domain only 4, cardiac LIM domain protein, cysteine and glycine-rich protein 3, muscle LIM protein
- Cross-references: NCBI: 8048, Ensembl: ENSG00000129170
- Evidence:
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ACTC1
- Genotator Score: 15.4
- Description: "actin, alpha, cardiac muscle 1"
- Chromosome: 15, Band: 15q11-q14
- Gene Synonyms: ACTC, ASD5, CMD1R, CMH11
- Other Descriptions: cardiac muscle alpha actin 1
- Cross-references: NCBI: 70, Ensembl: ENSG00000159251
- Evidence:
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BAG3
- Genotator Score: 15.2
- Description: BCL2-associated athanogene 3
- Chromosome: 10, Band: 10q25.2-q26.2
- Gene Synonyms: BAG-3, BIS, CAIR-1, MGC104307
- Other Descriptions: BAG-family molecular chaperone regulator-3, BCL2-binding athanogene 3, Bcl-2-binding protein, OTTHUMP00000020599, docking protein CAIR-1
- Cross-references: NCBI: 9531, Ensembl: ENSG00000151929
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Evidence:
- Pubmed Ids:
- HuGE Navigator Score: 0.152
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator, GenAtlas
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DES
- Genotator Score: 14.6
- Description: desmin
- Chromosome: 2, Band: 2q35
- Gene Synonyms: CMD1I, CSM1, CSM2, FLJ12025, FLJ39719, FLJ41013, FLJ41793
- Other Descriptions: OTTHUMP00000064865, intermediate filament protein
- Cross-references: NCBI: 1674, Ensembl: ENSG00000175084
- Evidence:
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PKP2
- Genotator Score: 14.3
- Description: plakophilin 2
- Chromosome: 12, Band: 12p11
- Gene Synonyms: ARVD9, MGC177501
- Other Descriptions:
- Cross-references: NCBI: 5318, Ensembl: ENSG00000057294
- Evidence:
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HLA-DQB1
- Genotator Score: 13.9
- Description: "major histocompatibility complex, class II, DQ beta 1"
- Chromosome: 6, Band: 6p21.3
- Gene Synonyms: CELIAC1, HLA-DQB, IDDM1
- Other Descriptions: MHC DQ beta, MHC class II DQ beta chain, MHC class II HLA-DQ beta glycoprotein, MHC class II antigen DQB1, MHC class II antigen HLA-DQ-beta-1, MHC class2 antigen, OTTHUMP00000178570, lymphocyte antigen, major histocompatibility complex class II beta
- Cross-references: NCBI: 3119, Ensembl: ENSG00000179344
- Evidence:
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MYL2
- Genotator Score: 13.3
- Description: "myosin, light chain 2, regulatory, cardiac, slow"
- Chromosome: 12, Band: 12q24.11
- Gene Synonyms: CMH10, DKFZp779C0562, MLC2
- Other Descriptions: "RLC of myosin, cardiac ventricular myosin light chain 2, myosin light chain 2, myosin regulatory light chain 2, ventricular/cardiac muscle isoform, myosin, light polypeptide 2, regulatory, cardiac, slow, regulatory light chain of myosin, slow cardiac myosin regulatory light chain 2"
- Cross-references: NCBI: 4633, Ensembl: ENSG00000111245
- Evidence:
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DSG2
- Genotator Score: 13.1
- Description: desmoglein 2
- Chromosome: 18, Band: 18q12.1
- Gene Synonyms: ARVC10, ARVD10, CDHF5, CMD1BB, HDGC, MGC117034, MGC117036, MGC117037
- Other Descriptions: HDGC
- Cross-references: NCBI: 1829, Ensembl: ENSG00000046604
- Evidence:
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DSC2
- Genotator Score: 12.9
- Description: desmocollin 2
- Chromosome: 18, Band: 18q12.1
- Gene Synonyms: ARVD11, CDHF2, DG2, DGII/III, DKFZp686I11137, DSC3
- Other Descriptions: desmosomal glycoprotein II/III
- Cross-references: NCBI: 1824, Ensembl: ENSG00000134755
- Evidence:
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TCAP
- Genotator Score: 12.3
- Description: titin-cap (telethonin)
- Chromosome: 17, Band: 17q12
- Gene Synonyms: CMD1N, LGMD2G, T-cap, TELE, telethonin
- Other Descriptions: 19 kDa sarcomeric protein, limb girdle muscular dystrophy 2G (autosomal recessive), telethonin
- Cross-references: NCBI: 8557, Ensembl: ENSG00000173991
- Evidence:
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MYL3
- Genotator Score: 11.5
- Description: "myosin, light chain 3, alkali; ventricular, skeletal, slow"
- Chromosome: 3, Band: 3p21.3-p21.2
- Gene Synonyms: CMH8, MLC1SB, MLC1V, VLC1
- Other Descriptions: "OTTHUMP00000165922, myosin, light polypeptide 3, alkali; ventricular, skeletal, slow, slow skeletal ventricular myosin alkali light chain 3"
- Cross-references: NCBI: 4634, Ensembl: ENSG00000160808
- Evidence:
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DSP
- Genotator Score: 10.8
- Description: desmoplakin
- Chromosome: 6, Band: 6p24
- Gene Synonyms: DPI, DPII
- Other Descriptions: 250/210 kDa paraneoplastic pemphigus antigen, OTTHUMP00000016001, desmoplakin I, desmoplakin II
- Cross-references: NCBI: 1832, Ensembl: ENSG00000096696
- Evidence:
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CYP11B2
- Genotator Score: 10.0
- Description: "cytochrome P450, family 11, subfamily B, polypeptide 2"
- Chromosome: 8, Band: 8q21-q22
- Gene Synonyms: ALDOS, CPN2, CYP11B, CYP11BL, P-450C18, P450C18, P450aldo
- Other Descriptions: "aldosterone synthase, cytochrome P450, subfamily XIB (steroid 11-beta-hydroxylase), polypeptide 2, mitochondrial cytochrome P450, family 11, subfamily B, polypeptide 2, steroid 11-beta-monooxygenase, steroid 11-beta/18-hydroxylase, steroid 18-hydroxylase, aldosterone synthase, P450C18, P450aldo"
- Cross-references: NCBI: 1585, Ensembl: ENSG00000179142
- Evidence:
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LDB3
- Genotator Score: 9.4
- Description: LIM domain binding 3
- Chromosome: 10, Band: 10q22.3-q23.2
- Gene Synonyms: CYPHER, FLJ35865, KIAA01613, KIAA0613, ORACLE, PDLIM6, ZASP, ldb3z1, ldb3z4
- Other Descriptions: OTTHUMP00000020008, OTTHUMP00000020009, PDZ and LIM domain 6
- Cross-references: NCBI: 11155, Ensembl: ENSG00000122367
- Evidence:
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CXCL12
- Genotator Score: 9.0
- Description: chemokine (C-X-C motif) ligand 12 (stromal cell-derived factor 1)
- Chromosome: 10, Band: 10q11.1
- Gene Synonyms: PBSF, SCYB12, SDF-1a, SDF-1b, SDF1, SDF1A, SDF1B, TLSF-a, TLSF-b, TPAR1
- Other Descriptions: OTTHUMP00000019491, stromal cell-derived factor 1 delta, stromal cell-derived factor 1 gamma, stromal cell-derived factor 1a
- Cross-references: NCBI: 6387, Ensembl: ENSG00000107562
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Evidence:
- Pubmed Ids:
- HuGE Navigator Score: 0.09
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
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MTHFD1L
- Genotator Score: 9.0
- Description: methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like
- Chromosome: 6, Band: 6q25.1
- Gene Synonyms: DKFZp586G1517, FLJ21145, FTHFSDC1, MTC1THFS, dJ292B18.2
- Other Descriptions: OTTHUMP00000017418, formyltetrahydrofolate synthetase domain containing 1, mitochondrial C1-tetrahydrofolate synthase, mitochondrial C1-tetrahydrofolate synthetase
- Cross-references: NCBI: 25902, Ensembl: ENSG00000120254
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Evidence:
- Pubmed Ids:
- HuGE Navigator Score: 0.09
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
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MIA3
- Genotator Score: 9.0
- Description: "melanoma inhibitory activity family, member 3"
- Chromosome: 1, Band: 1q41
- Gene Synonyms: ARNT, FLJ21469, FLJ39207, KIAA0268, TANGO, TANGO1, UNQ6077
- Other Descriptions: C219 reactive peptide, C219-reactive peptide, OTTHUMP00000035650
- Cross-references: NCBI: 375056, Ensembl:
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Evidence:
- Pubmed Ids:
- HuGE Navigator Score: 0.09
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
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SMAD3
- Genotator Score: 9.0
- Description: SMAD family member 3
- Chromosome: 15, Band: 15q22.33
- Gene Synonyms: DKFZp586N0721, DKFZp686J10186, HSPC193, HsT17436, JV15-2, MADH3, MGC60396
- Other Descriptions: "MAD, mothers against decapentaplegic homolog 3, SMA- and MAD-related protein 3, SMAD, mothers against DPP homolog 3, mad homolog JV15-2, mad protein homolog, mothers against decapentaplegic homolog 3"
- Cross-references: NCBI: 4088, Ensembl: ENSG00000166949
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Evidence:
- Pubmed Ids:
- HuGE Navigator Score: 0.09
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
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APC
- Genotator Score: 9.0
- Description: adenomatous polyposis coli
- Chromosome: 5, Band: 5q21-q22
- Gene Synonyms: BTPS2, DP2, DP2.5, DP3, GS
- Other Descriptions: adenomatosis polyposis coli tumor suppressor
- Cross-references: NCBI: 324, Ensembl: ENSG00000134982
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Evidence:
- Pubmed Ids:
- HuGE Navigator Score: 0.09
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
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TRNL1
- Genotator Score: 8.2
- Description: mitochondrially encoded tRNA leucine 1 (UUA/G)
- Chromosome: MT, Band:
- Gene Synonyms: MTTL1
- Other Descriptions:
- Cross-references: NCBI: 4567, Ensembl:
- Evidence:
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MICB
- Genotator Score: 8.1
- Description: MHC class I polypeptide-related sequence B
- Chromosome: 6, Band: 6p21.3
- Gene Synonyms: PERB11.2
- Other Descriptions: MHC class I chain-related protein B, MHC class I mic-B antigen, MHC class I molecule, MHC class I-like molecule PERB11.2-IMX, OTTHUMP00000029089, OTTHUMP00000035091, OTTHUMP00000035588, stress inducible class I homolog
- Cross-references: NCBI: 4277, Ensembl: ENSG00000204516
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Evidence:
- Pubmed Ids: 16101831,
- HuGE Navigator Score: 0.079
- GAD counts: yes=0, no=0, null=2
- Evidence Sources: HuGE Navigator, GAD
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CXADR
- Genotator Score: 8.1
- Description: coxsackie virus and adenovirus receptor
- Chromosome: 21, Band: 21q21.1
- Gene Synonyms: CAR, HCAR
- Other Descriptions: 46 kD coxsackievirus and adenovirus receptor (CAR) protein, CVB3 binding protein, coxsackie virus B receptor
- Cross-references: NCBI: 1525, Ensembl: ENSG00000154639
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Evidence:
- Pubmed Ids: 19100061,
- HuGE Navigator Score: 0.079
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: GeneCards, HuGE Navigator, WikiGenes
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HSPB7
- Genotator Score: 7.9
- Description: "heat shock 27kDa protein family, member 7 (cardiovascular)"
- Chromosome: 1, Band: 1p36.23-p34.3
- Gene Synonyms: DKFZp779D0968, FLJ32733, cvHSP
- Other Descriptions: "cardiovascular heat shock protein, heat shock 27kD protein family, member 7 (cardiovascular)"
- Cross-references: NCBI: 27129, Ensembl: ENSG00000173641
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Evidence:
- Pubmed Ids:
- HuGE Navigator Score: 0.079
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
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ATP10D
- Genotator Score: 7.5
- Description: "ATPase, class V, type 10D"
- Chromosome: 4, Band: 4p12
- Gene Synonyms: ATPVD, KIAA1487
- Other Descriptions: type IV aminophospholipid transporting ATPase
- Cross-references: NCBI: 57205, Ensembl: ENSG00000145246
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Evidence:
- Pubmed Ids: 19798445,
- HuGE Navigator Score: 0.073
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
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FADS1
- Genotator Score: 7.5
- Description: fatty acid desaturase 1
- Chromosome: 11, Band: 11q12.2-q13.1
- Gene Synonyms: D5D, FADS6, FADSD5, FLJ38956, FLJ90273, LLCDL1, TU12
- Other Descriptions: delta(5) desaturase, delta-5 desaturase, delta-5 fatty acid desaturase, linoleoyl-CoA desaturase (delta-6-desaturase)-like 1
- Cross-references: NCBI: 3992, Ensembl: ENSG00000149485
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Evidence:
- Pubmed Ids: 19798445,
- HuGE Navigator Score: 0.073
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
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SPTLC3
- Genotator Score: 7.5
- Description: "serine palmitoyltransferase, long chain base subunit 3"
- Chromosome: 20, Band: 20p12.1
- Gene Synonyms: C20orf38, FLJ11112, FLJ90790, LCB3, SPT3, SPTLC2L, dJ718P11, dJ718P11.1
- Other Descriptions: "long chain base biosynthesis protein 3, serine palmitoyltransferase, long chain base subunit 2-like (aminotransferase 2)"
- Cross-references: NCBI: 55304, Ensembl: ENSG00000172296
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Evidence:
- Pubmed Ids: 19798445,
- HuGE Navigator Score: 0.073
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
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LASS4
- Genotator Score: 7.5
- Description: "LAG1 homolog, ceramide synthase 4"
- Chromosome: 19, Band: 19p13.2
- Gene Synonyms: CerS4, FLJ12089, Trh1
- Other Descriptions: LAG1 longevity assurance homolog 4
- Cross-references: NCBI: 79603, Ensembl: ENSG00000090661
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Evidence:
- Pubmed Ids: 19798445,
- HuGE Navigator Score: 0.073
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
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SGPP1
- Genotator Score: 7.5
- Description: sphingosine-1-phosphate phosphatase 1
- Chromosome: 14, Band: 14q23.2
- Gene Synonyms: SPPase1
- Other Descriptions: sphingosine-1-phosphatase
- Cross-references: NCBI: 81537, Ensembl: ENSG00000126821
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Evidence:
- Pubmed Ids: 19798445,
- HuGE Navigator Score: 0.073
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
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DUSP27
- Genotator Score: 7.3
- Description: dual specificity phosphatase 27 (putative)
- Chromosome: 1, Band: 1q22-q24
- Gene Synonyms:
- Other Descriptions: OTTHUMP00000032345, dual specificity phosphatase 27
- Cross-references: NCBI: 92235, Ensembl:
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Evidence:
- Pubmed Ids:
- HuGE Navigator Score: 0.073
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
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TAZ
- Genotator Score: 7.3
- Description: tafazzin
- Chromosome: X, Band: Xq28
- Gene Synonyms: BTHS, CMD3A, EFE, EFE2, FLJ27390, G4.5, LVNCX, Taz1, XAP-2
- Other Descriptions: OTTHUMP00000031946, OTTHUMP00000031947, OTTHUMP00000031948, OTTHUMP00000031949, OTTHUMP00000061673
- Cross-references: NCBI: 6901, Ensembl: ENSG00000102125
- Evidence:
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RIMS2
- Genotator Score: 7.3
- Description: regulating synaptic membrane exocytosis 2
- Chromosome: 8, Band: 8q22.3
- Gene Synonyms: DKFZp781A0653, KIAA0751, OBOE, RAB3IP3, RIM2
- Other Descriptions: RAB3 interacting protein 3, non-small cell lung cancer RimL3a protein, non-small cell lung cancer RimL3c protein, nuclear protein
- Cross-references: NCBI: 9699, Ensembl: ENSG00000176406
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Evidence:
- Pubmed Ids:
- HuGE Navigator Score: 0.073
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
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PTHLH
- Genotator Score: 7.3
- Description: parathyroid hormone-like hormone
- Chromosome: 12, Band: 12p12.1-p11.2
- Gene Synonyms: HHM, MGC14611, PLP, PTHR, PTHRP
- Other Descriptions: PTH-related protein, humoral hypercalcemia of malignancy, osteostatin, parathyroid hormone-like protein, parathyroid hormone-like related protein, parathyroid hormone-related protein, parathyroid-like protein
- Cross-references: NCBI: 5744, Ensembl: ENSG00000087494
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Evidence:
- Pubmed Ids:
- HuGE Navigator Score: 0.073
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
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XIRP2
- Genotator Score: 7.3
- Description: xin actin-binding repeat containing 2
- Chromosome: 2, Band: 2q24.3
- Gene Synonyms: CMYA3, DKFZp451G055, DKFZp779G1747, FLJ39111, FLJ40200, MYOMAXIN
- Other Descriptions: cardiomyopathy associated 3, xeplin, xin repeat protein 2
- Cross-references: NCBI: 129446, Ensembl: ENSG00000163092
-
Evidence:
- Pubmed Ids:
- HuGE Navigator Score: 0.073
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: GeneCards, HuGE Navigator, PharmGKB, Uniprot, WikiGenes
-
MYH6
- Genotator Score: 7.2
- Description: "myosin, heavy chain 6, cardiac muscle, alpha"
- Chromosome: 14, Band: 14q12
- Gene Synonyms: ASD3, MYHC, MYHCA, alpha-MHC
- Other Descriptions: "alpha myosin heavy chain, alpha-myosin heavy chain, cardiomyopathy, hypertrophic 1, myosin heavy chain 6, myosin heavy chain, cardiac muscle alpha isoform, myosin, heavy polypeptide 6, cardiac muscle, alpha (cardiomyopathy, hypertrophic 1)"
- Cross-references: NCBI: 4624, Ensembl: ENSG00000197616
- Evidence:
-
ADRB2
- Genotator Score: 7.2
- Description: "adrenergic, beta-2-, receptor, surface"
- Chromosome: 5, Band: 5q31-q32
- Gene Synonyms: ADRB2R, ADRBR, B2AR, BAR, BETA2AR
- Other Descriptions: beta-2 adrenergic receptor, beta-2 adrenoceptor, catecholamine receptor
- Cross-references: NCBI: 154, Ensembl: ENSG00000169252
- Evidence:
-
TTN
- Genotator Score: 6.6
- Description: titin
- Chromosome: 2, Band: 2q31
- Gene Synonyms: CMD1G, CMH9, CMPD4, CONNECTIN, DKFZp451N061, EOMFC, FLJ26020, FLJ26409, FLJ32040, FLJ34413, FLJ39564, FLJ43066, HMERF, LGMD2J, TMD
- Other Descriptions: rhabdomyosarcoma antigen MU-RMS-40.14
- Cross-references: NCBI: 7273, Ensembl: ENSG00000155657
- Evidence:
-
TNNC1
- Genotator Score: 6.4
- Description: troponin C type 1 (slow)
- Chromosome: 3, Band: 3p21.3-p14.3
- Gene Synonyms: CMD1Z, TNC, TNNC
- Other Descriptions: "cardiac troponin C, slow twitch skeletal/cardiac muscle troponin C, troponin C, slow, troponin C1, slow"
- Cross-references: NCBI: 7134, Ensembl: ENSG00000114854
-
Evidence:
- Pubmed Ids: 20031618, 19035361,
- HuGE Navigator Score: 0.06
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: GeneCards, HuGE Navigator
-
AGT
- Genotator Score: 6.4
- Description: "angiotensinogen (serpin peptidase inhibitor, clade A, member 8)"
- Chromosome: 1, Band: 1q42-q43
- Gene Synonyms: ANHU, FLJ92595, FLJ97926, SERPINA8
- Other Descriptions: "OTTHUMP00000035878, alpha-1 antiproteinase, antitrypsin, angiotensin I, angiotensin II, angiotensinogen, pre-angiotensinogen, serine (or cysteine) proteinase inhibitor"
- Cross-references: NCBI: 183, Ensembl: ENSG00000135744
- Evidence:
-
PTPN11
- Genotator Score: 6.0
- Description: "protein tyrosine phosphatase, non-receptor type 11"
- Chromosome: 12, Band: 12q24
- Gene Synonyms: BPTP3, CFC, MGC14433, NS1, PTP-1D, PTP2C, SH-PTP2, SH-PTP3, SHP2
- Other Descriptions: protein tyrosine phosphatase-2, protein-tyrosine phosphatase 2C
- Cross-references: NCBI: 5781, Ensembl: ENSG00000179295
- Evidence:
-
SGCD
- Genotator Score: 5.1
- Description: "sarcoglycan, delta (35kDa dystrophin-associated glycoprotein)"
- Chromosome: 5, Band: 5q33-q34
- Gene Synonyms: 35DAG, CMD1L, DAGD, MGC22567, SG-delta, SGCDP, SGD
- Other Descriptions: "35kD dystrophin-associated glycoprotein, delta-sarcoglycan, dystrophin associated glycoprotein, delta sarcoglycan, placental delta sarcoglycan, sarcoglycan, delta (35kD dystrophin-associated glycoprotein)"
- Cross-references: NCBI: 6444, Ensembl: ENSG00000170624
-
Evidence:
- Pubmed Ids: 17652892,
- HuGE Navigator Score: 0.049
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: OMIM, GeneCards, HuGE Navigator, WikiGenes
-
AGTR1
- Genotator Score: 4.8
- Description: "angiotensin II receptor, type 1"
- Chromosome: 3, Band: 3q21-q25
- Gene Synonyms: AG2S, AGTR1A, AGTR1B, AT1, AT1B, AT1R, AT2R1, AT2R1A, AT2R1B, HAT1R
- Other Descriptions: angiotensin receptor 1, angiotensin receptor 1B, type-1B angiotensin II receptor
- Cross-references: NCBI: 185, Ensembl: ENSG00000144891
- Evidence:
-
TMEM43
- Genotator Score: 4.7
- Description: transmembrane protein 43
- Chromosome: 3, Band: 3p25.1
- Gene Synonyms: ARVC5, ARVD5, DKFZp586G1919, LUMA, MGC3222
- Other Descriptions:
- Cross-references: NCBI: 79188, Ensembl: ENSG00000170876
-
Evidence:
- Pubmed Ids: 19863551, 18313022,
- HuGE Navigator Score: 0.043
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: GeneCards, HuGE Navigator, GenAtlas
-
CTLA4
- Genotator Score: 4.5
- Description: cytotoxic T-lymphocyte-associated protein 4
- Chromosome: 2, Band: 2q33
- Gene Synonyms: CD, CD152, CELIAC3, CTLA-4, GSE, ICOS, IDDM12
- Other Descriptions: OTTHUMP00000163781, celiac disease 3, cytotoxic T-lymphocyte-associated antigen 4, cytotoxic T-lymphocyte-associated serine esterase-4, ligand and transmembrane spliced cytotoxic T lymphocyte associated antigen 4
- Cross-references: NCBI: 1493, Ensembl: ENSG00000163599
-
Evidence:
- Pubmed Ids: 20145677, 16604497, 16405845,
- HuGE Navigator Score: 0.019
- GAD counts: yes=2, no=0, null=0
- Evidence Sources: HuGE Navigator, GAD
-
IL10
- Genotator Score: 4.5
- Description: interleukin 10
- Chromosome: 1, Band: 1q31-q32
- Gene Synonyms: CSIF, IL-10, IL10A, MGC126450, MGC126451, TGIF
- Other Descriptions: cytokine synthesis inhibitory factor
- Cross-references: NCBI: 3586, Ensembl: ENSG00000136634
- Evidence:
-
VCL
- Genotator Score: 4.3
- Description: vinculin
- Chromosome: 10, Band: 10q22.2
- Gene Synonyms: CMD1W, MVCL
- Other Descriptions: OTTHUMP00000019861, OTTHUMP00000043885, metavinculin
- Cross-references: NCBI: 7414, Ensembl: ENSG00000035403
-
Evidence:
- Pubmed Ids: 18513529,
- HuGE Navigator Score: 0.041
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: GeneCards, HuGE Navigator, WikiGenes
-
ACTN2
- Genotator Score: 4.3
- Description: "actinin, alpha 2"
- Chromosome: 1, Band: 1q42-q43
- Gene Synonyms: CMD1AA
- Other Descriptions: F-actin cross-linking protein, OTTHUMP00000037963, alpha-actinin skeletal muscle
- Cross-references: NCBI: 88, Ensembl: ENSG00000077522
-
Evidence:
- Pubmed Ids: 18513529,
- HuGE Navigator Score: 0.041
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: GeneCards, HuGE Navigator
-
SCN5A
- Genotator Score: 4.1
- Description: "sodium channel, voltage-gated, type V, alpha subunit"
- Chromosome: 3, Band: 3p21
- Gene Synonyms: CDCD2, CMD1E, CMPD2, HB1, HB2, HBBD, HH1, ICCD, IVF, LQT3, Nav1.5, PFHB1, SSS1
- Other Descriptions: cardiac sodium channel alpha subunit, cardiac tetrodotoxin-insensitive voltage-dependent sodium channel alpha subunit, sodium channel protein type V alpha subunit, voltage-gated sodium channel type V alpha
- Cross-references: NCBI: 6331, Ensembl:
- Evidence:
-
SOD2
- Genotator Score: 3.9
- Description: "superoxide dismutase 2, mitochondrial"
- Chromosome: 6, Band: 6q25.3
- Gene Synonyms: IPO-B, MNSOD, MVCD6, Mn-SOD
- Other Descriptions: Mn superoxide dismutase, OTTHUMP00000017530, OTTHUMP00000017531, indophenoloxidase B, manganese superoxide dismutase, manganese-containing superoxide dismutase, mangano-superoxide dismutase
- Cross-references: NCBI: 6648, Ensembl: ENSG00000112096
-
Evidence:
- Pubmed Ids: 19863340, 15591282,
- HuGE Navigator Score: 0.025
- GAD counts: yes=1, no=0, null=0
- Evidence Sources: HuGE Navigator, GAD
-
CMA1
- Genotator Score: 3.7
- Description: "chymase 1, mast cell"
- Chromosome: 14, Band: 14q11.2
- Gene Synonyms: CYH, MCT1, MGC119890, MGC119891, chymase
- Other Descriptions: "chymase 1 preproprotein transcript E, chymase 1 preproprotein transcript I, chymase, heart, chymase, mast cell, mast cell protease I"
- Cross-references: NCBI: 1215, Ensembl: ENSG00000092009
-
Evidence:
- Pubmed Ids: 19853701, 19442892, 17851694,
- HuGE Navigator Score: 0.031
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
CTF1
- Genotator Score: 3.5
- Description: cardiotrophin 1
- Chromosome: 16, Band: 16p11.2-p11.1
- Gene Synonyms: CT-1, CT1
- Other Descriptions: cardiophin 1
- Cross-references: NCBI: 1489, Ensembl: ENSG00000150281
-
Evidence:
- Pubmed Ids:
- HuGE Navigator Score: 0.035
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: GeneCards, HuGE Navigator, WikiGenes
-
EMD
- Genotator Score: 3.5
- Description: emerin
- Chromosome: X, Band: Xq28
- Gene Synonyms: EDMD, LEMD5, STA
- Other Descriptions: LEM domain containing 5, OTTHUMP00000031938, OTTHUMP00000061687
- Cross-references: NCBI: 2010, Ensembl: ENSG00000102119
-
Evidence:
- Pubmed Ids:
- HuGE Navigator Score: 0.035
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: GeneCards, HuGE Navigator
-
ABCC9
- Genotator Score: 3.5
- Description: "ATP-binding cassette, sub-family C (CFTR/MRP), member 9"
- Chromosome: 12, Band: 12p12.1
- Gene Synonyms: ABC37, CMD1O, FLJ36852, SUR2
- Other Descriptions: "ATP-binding cassette, sub-family C, member 9, sulfonylurea receptor 2A"
- Cross-references: NCBI: 10060, Ensembl: ENSG00000069431
-
Evidence:
- Pubmed Ids:
- HuGE Navigator Score: 0.035
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: OMIM, GeneCards, HuGE Navigator, WikiGenes
-
HLA-DQA1
- Genotator Score: 3.5
- Description: "major histocompatibility complex, class II, DQ alpha 1"
- Chromosome: 6, Band: 6p21.3
- Gene Synonyms: CD, CELIAC1, DQ-A1, FLJ27088, FLJ27328, GSE, HLA-DQA, MGC149527
- Other Descriptions: Gluten-sensitive enteropathy (celiac disease), MHC HLA-DQ alpha, MHC class II HLA-D alpha glycoprotein, MHC class II HLA-DQ-alpha-1, MHC class II antigen, MHC class II surface glycoprotein, OTTHUMP00000029141, OTTHUMP00000176885, OTTHUMP00000178551, OTTHUMP00000178552, leucocyte antigen DQA1, leukocyte antigen alpha chain
- Cross-references: NCBI: 3117, Ensembl: ENSG00000196735
-
Evidence:
- Pubmed Ids: 15996167, 15498363, 16225776,
- HuGE Navigator Score: 0.019
- GAD counts: yes=1, no=0, null=1
- Evidence Sources: HuGE Navigator, GAD
-
RAF1
- Genotator Score: 3.5
- Description: v-raf-1 murine leukemia viral oncogene homolog 1
- Chromosome: 3, Band: 3p25
- Gene Synonyms: CRAF, NS5, Raf-1, c-Raf
- Other Descriptions: Oncogene RAF1, raf proto-oncogene serine/threonine protein kinase
- Cross-references: NCBI: 5894, Ensembl: ENSG00000132155
-
Evidence:
- Pubmed Ids: 19020799, 18241070,
- HuGE Navigator Score: 0.031
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator, WikiGenes
-
KRAS
- Genotator Score: 3.3
- Description: v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog
- Chromosome: 12, Band: 12p12.1
- Gene Synonyms: C-K-RAS, K-RAS2A, K-RAS2B, K-RAS4A, K-RAS4B, KI-RAS, KRAS1, KRAS2, NS3, RASK2
- Other Descriptions: K-ras p21 protein, Kirsten rat sarcoma-2 viral (v-Ki-ras2) oncogene homolog, PR310 c-K-ras oncogene, c-K-ras2 protein, c-Kirsten-ras protein, cellular c-Ki-ras2 proto-oncogene, oncogene KRAS2, transforming protein p21, v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog
- Cross-references: NCBI: 3845, Ensembl: ENSG00000133703
-
Evidence:
- Pubmed Ids: 19020799,
- HuGE Navigator Score: 0.031
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
ADRA2C
- Genotator Score: 3.3
- Description: "adrenergic, alpha-2C-, receptor"
- Chromosome: 4, Band: 4p16
- Gene Synonyms: ADRA2L2, ADRA2RL2, ADRARL2, ALPHA2CAR
- Other Descriptions: alpha-2C-adrenergic receptor, alpha2-AR-C4
- Cross-references: NCBI: 152, Ensembl: ENSG00000184160
-
Evidence:
- Pubmed Ids: 18776959, 18320080, 16299019, 16187973,
- HuGE Navigator Score: 0.025
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
TGFB1
- Genotator Score: 2.9
- Description: "transforming growth factor, beta 1"
- Chromosome: 19, Band: 19q13.2|19q13.1
- Gene Synonyms: CED, DPD1, TGFB, TGFbeta
- Other Descriptions: "TGF-beta 1 protein, diaphyseal dysplasia 1, progressive, transforming growth factor-beta 1"
- Cross-references: NCBI: 7040, Ensembl: ENSG00000105329
- Evidence:
-
JUP
- Genotator Score: 2.9
- Description: junction plakoglobin
- Chromosome: 17, Band: 17q21
- Gene Synonyms: ARVD12, CTNNG, DP3, DPIII, PDGB, PKGB
- Other Descriptions: "OTTHUMP00000164735, catenin (cadherin-associated protein), gamma (80kD), catenin (cadherin-associated protein), gamma 80kDa, gamma-catenin"
- Cross-references: NCBI: 3728, Ensembl: ENSG00000173801
- Evidence:
-
TLR4
- Genotator Score: 2.9
- Description: toll-like receptor 4
- Chromosome: 9, Band: 9q32-q33
- Gene Synonyms: ARMD10, CD284, TOLL, hToll
- Other Descriptions: OTTHUMP00000022807, homolog of Drosophila toll
- Cross-references: NCBI: 7099, Ensembl: ENSG00000136869
-
Evidence:
- Pubmed Ids: 19456234, 18368233,
- HuGE Navigator Score: 0.025
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
DMD
- Genotator Score: 2.8
- Description: dystrophin
- Chromosome: X, Band: Xp21.2
- Gene Synonyms: BMD, CMD3B, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272
- Other Descriptions: OTTHUMP00000023117, OTTHUMP00000023124, OTTHUMP00000023125, OTTHUMP00000023126
- Cross-references: NCBI: 1756, Ensembl: ENSG00000198947
- Evidence:
-
SOS1
- Genotator Score: 2.7
- Description: son of sevenless homolog 1 (Drosophila)
- Chromosome: 2, Band: 2p22-p21
- Gene Synonyms: GF1, GGF1, GINGF, HGF, NS4
- Other Descriptions: "OTTHUMP00000128306, gingival fibromatosis, hereditary, 1, guanine nucleotide exchange factor, son of sevenless homolog 1"
- Cross-references: NCBI: 6654, Ensembl: ENSG00000115904
-
Evidence:
- Pubmed Ids: 19020799,
- HuGE Navigator Score: 0.025
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
TTR
- Genotator Score: 2.7
- Description: transthyretin
- Chromosome: 18, Band: 18q12.1
- Gene Synonyms: HsT2651, PALB, TBPA
- Other Descriptions: "prealbumin, amyloidosis type I, thyroxine-binding prealbumin"
- Cross-references: NCBI: 7276, Ensembl: ENSG00000118271
-
Evidence:
- Pubmed Ids: 16011990,
- HuGE Navigator Score: 0.015
- GAD counts: yes=1, no=0, null=0
- Evidence Sources: GeneCards, HuGE Navigator, WikiGenes, GAD
-
HLA-DPB1
- Genotator Score: 2.6
- Description: "major histocompatibility complex, class II, DP beta 1"
- Chromosome: 6, Band: 6p21.3
- Gene Synonyms: DPB1, HLA-DP1B
- Other Descriptions: "HLA DP14-beta chain, HLA-DP histocompatibility type, beta-1 subunit, MHC HLA DPB1, MHC class II HLA-DP-beta, MHC class II HLA-DP-beta-1, MHC class II HLA-DRB1, MHC class II antigen DP beta 1 chain, MHC class II antigen DPbeta1, MHC class II antigen beta chain, OTTHUMP00000029093, OTTHUMP00000062990, beta1 domain MHC class II HLA DPB, major histocompatibility complex class II HLA DPB1 protein"
- Cross-references: NCBI: 3115, Ensembl: ENSG00000168383
-
Evidence:
- Pubmed Ids: 18186799, 17060025,
- HuGE Navigator Score: 0.012
- GAD counts: yes=1, no=0, null=0
- Evidence Sources: HuGE Navigator, GAD
-
HLA-B
- Genotator Score: 2.6
- Description: "major histocompatibility complex, class I, B"
- Chromosome: 6, Band: 6p21.3
- Gene Synonyms: AS, HLA-B-7301, HLA-B73, HLAB, HLAC, MGC111087, SPDA1
- Other Descriptions: "HLA class I histocompatibility antigen, B alpha chain, HLA class I histocompatibility antigen, B-7 alpha chain, HLA class I histocompatibility antigen, Cw-5 alpha chain, HLA-B alpha chain (HLA-B*7301), MHC Class I HLA heavy chain, MHC HLA-B cell surface glycoprotein, MHC class I antigen GN00104, MHC class I antigen HLA-B heavy chain, MHC class I antigen SHCHA, OTTHUMP00000029212, OTTHUMP00000034826, leukocyte antigen class I-B, lymphocyte antigen"
- Cross-references: NCBI: 3106, Ensembl: ENSG00000204525
-
Evidence:
- Pubmed Ids: 14700597, 11053636,
- HuGE Navigator Score: 0.012
- GAD counts: yes=1, no=0, null=0
- Evidence Sources: HuGE Navigator, GAD
-
GLA
- Genotator Score: 2.5
- Description: "galactosidase, alpha"
- Chromosome: X, Band: Xq22
- Gene Synonyms: GALA
- Other Descriptions: OTTHUMP00000023679, agalsidase alfa, alpha-D-galactosidase A, alpha-D-galactoside galactohydrolase 1, alpha-gal A, alpha-galactosidase A, melibiase
- Cross-references: NCBI: 2717, Ensembl: ENSG00000102393
-
Evidence:
- Pubmed Ids: 20031620, 16754800,
- HuGE Navigator Score: 0.021
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: GeneCards, HuGE Navigator
-
IL1B
- Genotator Score: 2.5
- Description: "interleukin 1, beta"
- Chromosome: 2, Band: 2q14
- Gene Synonyms: IL-1, IL1-BETA, IL1F2
- Other Descriptions: catabolin, preinterleukin 1 beta, pro-interleukin-1-beta
- Cross-references: NCBI: 3553, Ensembl: ENSG00000125538
-
Evidence:
- Pubmed Ids: 19811434, 17353161, 17002905,
- HuGE Navigator Score: 0.019
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
EDN1
- Genotator Score: 2.5
- Description: endothelin 1
- Chromosome: 6, Band: 6p24.1
- Gene Synonyms: ET1, HDLCQ7
- Other Descriptions: OTTHUMP00000016038, OTTHUMP00000039245
- Cross-references: NCBI: 1906, Ensembl: ENSG00000078401
- Evidence:
-
MMP9
- Genotator Score: 2.5
- Description: "matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)"
- Chromosome: 20, Band: 20q11.2-q13.1
- Gene Synonyms: CLG4B, GELB, MMP-9
- Other Descriptions: "OTTHUMP00000031674, macrophage gelatinase, matrix metalloproteinase 9, matrix metalloproteinase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase), type V collagenase"
- Cross-references: NCBI: 4318, Ensembl: ENSG00000100985
-
Evidence:
- Pubmed Ids: 18028894, 15191941, 15084374,
- HuGE Navigator Score: 0.019
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
CCR5
- Genotator Score: 2.3
- Description: chemokine (C-C motif) receptor 5
- Chromosome: 3, Band: 3p21.31
- Gene Synonyms: CC-CKR-5, CCCKR5, CD195, CKR-5, CKR5, CMKBR5, FLJ78003, IDDM22
- Other Descriptions: C-C chemokine receptor type 5, C-C motif chemokine receptor 5 A159A, chemokine receptor CCR5, chemr13
- Cross-references: NCBI: 1234, Ensembl: ENSG00000160791
-
Evidence:
- Pubmed Ids: 15301862, 11703822,
- HuGE Navigator Score: 0.019
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
MYOZ2
- Genotator Score: 2.3
- Description: myozenin 2
- Chromosome: 4, Band: 4q26-q27
- Gene Synonyms: C4orf5, CS-1
- Other Descriptions: FATZ related protein 2, calcineurin-binding protein calsarcin-1, calsarcin-1, muscle-specific protein
- Cross-references: NCBI: 51778, Ensembl: ENSG00000172399
-
Evidence:
- Pubmed Ids: 18591919, 17347475,
- HuGE Navigator Score: 0.009
- GAD counts: yes=1, no=0, null=0
- Evidence Sources: GeneCards, HuGE Navigator, GAD
-
ANKRD1
- Genotator Score: 2.3
- Description: ankyrin repeat domain 1 (cardiac muscle)
- Chromosome: 10, Band: 10q23.31
- Gene Synonyms: ALRP, C-193, CARP, CVARP, MCARP, bA320F15.2
- Other Descriptions: OTTHUMP00000020084, cardiac ankyrin repeat protein, cytokine inducible nuclear protein, liver ankyrin repeat domain 1
- Cross-references: NCBI: 27063, Ensembl: ENSG00000148677
-
Evidence:
- Pubmed Ids: 19608030, 19608031,
- HuGE Navigator Score: 0.019
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
PRKAG2
- Genotator Score: 2.3
- Description: "protein kinase, AMP-activated, gamma 2 non-catalytic subunit"
- Chromosome: 7, Band: 7q36.1
- Gene Synonyms: AAKG, AAKG2, CMH6, H91620p, WPWS
- Other Descriptions: AMP-activated protein kinase gamma2 subunit, AMPK gamma2
- Cross-references: NCBI: 51422, Ensembl: ENSG00000106617
- Evidence:
-
LTA
- Genotator Score: 2.3
- Description: "lymphotoxin alpha (TNF superfamily, member 1)"
- Chromosome: 6, Band: 6p21.3
- Gene Synonyms: LT, TNFB, TNFSF1
- Other Descriptions: OTTHUMP00000029184, OTTHUMP00000037612, OTTHUMP00000037613, OTTHUMP00000165897, lymphotoxin alpha, tumor necrosis factor beta
- Cross-references: NCBI: 4049, Ensembl: ENSG00000204496
-
Evidence:
- Pubmed Ids: 18442814, 18190265,
- HuGE Navigator Score: 0.019
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
IL6
- Genotator Score: 2.1
- Description: "interleukin 6 (interferon, beta 2)"
- Chromosome: 7, Band: 7p21
- Gene Synonyms: BSF2, HGF, HSF, IFNB2, IL-6
- Other Descriptions: B cell stimulatory factor-2, B-cell differentiation factor, CTL differentiation factor, hybridoma growth factor, interleukin 6, interleukin BSF-2
- Cross-references: NCBI: 3569, Ensembl: ENSG00000136244
-
Evidence:
- Pubmed Ids: 16820586,
- HuGE Navigator Score: 0.019
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
GPX1
- Genotator Score: 2.1
- Description: glutathione peroxidase 1
- Chromosome: 3, Band: 3p21.3
- Gene Synonyms: GSHPX1, MGC14399, MGC88245
- Other Descriptions: cellular glutathione peroxidase
- Cross-references: NCBI: 2876, Ensembl: ENSG00000197582
-
Evidence:
- Pubmed Ids: 18940188,
- HuGE Navigator Score: 0.019
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
MBL2
- Genotator Score: 2.1
- Description: "mannose-binding lectin (protein C) 2, soluble (opsonic defect)"
- Chromosome: 10, Band: 10q11.2-q21
- Gene Synonyms: COLEC1, HSMBPC, MBL, MBP, MBP1, MGC116832, MGC116833
- Other Descriptions: "OTTHUMP00000019622, mannan-binding lectin, mannose-binding lectin 2, soluble (opsonic defect), mannose-binding protein C, soluble mannose-binding lectin"
- Cross-references: NCBI: 4153, Ensembl: ENSG00000165471
-
Evidence:
- Pubmed Ids: 18602696,
- HuGE Navigator Score: 0.019
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
HRAS
- Genotator Score: 1.9
- Description: v-Ha-ras Harvey rat sarcoma viral oncogene homolog
- Chromosome: 11, Band: 11p15.5
- Gene Synonyms: C-BAS/HAS, C-H-RAS, C-HA-RAS1, CTLO, H-RASIDX, HAMSV, HRAS1, K-RAS, N-RAS, RASH1
- Other Descriptions: GTP- and GDP-binding peptide B, GTPase HRas, Ha-Ras1 proto-oncoprotein, OTTHUMP00000162769, OTTHUMP00000166053, OTTHUMP00000166055, Ras family small GTP binding protein H-Ras, c-has/bas p21 protein, c-ras-Ki-2 activated oncogene, p19 H-RasIDX protein, transformation gene: oncogene HAMSV, transforming protein p21
- Cross-references: NCBI: 3265, Ensembl: ENSG00000174775
-
Evidence:
- Pubmed Ids:
- HuGE Navigator Score: 0.019
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
BRAF
- Genotator Score: 1.9
- Description: v-raf murine sarcoma viral oncogene homolog B1
- Chromosome: 7, Band: 7q34
- Gene Synonyms: B-RAF1, BRAF1, FLJ95109, MGC126806, MGC138284, RAFB1
- Other Descriptions: 94 kDa B-raf protein, B-Raf, B-Raf proto-oncogene serine/threonine-protein kinase (p94), murine sarcoma viral (v-raf) oncogene homolog B1
- Cross-references: NCBI: 673, Ensembl: ENSG00000157764
-
Evidence:
- Pubmed Ids:
- HuGE Navigator Score: 0.019
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
KCNE1
- Genotator Score: 1.9
- Description: "potassium voltage-gated channel, Isk-related family, member 1"
- Chromosome: 21, Band: 21q22.1-q22.2|21q22.12
- Gene Synonyms: FLJ18426, FLJ38123, FLJ94103, ISK, JLNS, JLNS2, LQT2/5, LQT5, MGC33114, MinK
- Other Descriptions: "IKs producing slow voltage-gated potassium channel subunit beta Mink, OTTHUMP00000108623, OTTHUMP00000108625, OTTHUMP00000108626, cardiac delayed rectifier potassium channel protein, delayed rectifier potassium channel subunit IsK, minimal potassium channel, potassium voltage-gated channel subfamily E member 1, potassium voltage-gated channel, Isk-related subfamily, member 1, voltage gated potassiun channel accessory subunit"
- Cross-references: NCBI: 3753, Ensembl: ENSG00000180509
-
Evidence:
- Pubmed Ids:
- HuGE Navigator Score: 0.019
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
HLA-DPA1
- Genotator Score: 1.8
- Description: "major histocompatibility complex, class II, DP alpha 1"
- Chromosome: 6, Band: 6p21.3
- Gene Synonyms: HLA-DP1A, HLADP, HLASB, PLT1
- Other Descriptions: "HLA class II histocompatibility antigen, DP alpha chain, MHC class II HLA-DPA1 antigen, MHC class II antigen, OTTHUMP00000029066, OTTHUMP00000062983, Primed lymphocyte test-1"
- Cross-references: NCBI: 3113, Ensembl: ENSG00000168384
-
Evidence:
- Pubmed Ids: 17060025,
- HuGE Navigator Score: 0.006
- GAD counts: yes=1, no=0, null=0
- Evidence Sources: HuGE Navigator, GAD
-
NFATC4
- Genotator Score: 1.8
- Description: "nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4"
- Chromosome: 14, Band: 14q11.2
- Gene Synonyms: NF-ATc4, NFAT3
- Other Descriptions: "T cell transcription factor NFAT3, nuclear factor of activated T-cells, cytoplasmic 4"
- Cross-references: NCBI: 4776, Ensembl: ENSG00000100968
-
Evidence:
- Pubmed Ids: 12939651,
- HuGE Navigator Score: 0.006
- GAD counts: yes=1, no=0, null=0
- Evidence Sources: HuGE Navigator, WikiGenes, GAD
-
PPARGC1A
- Genotator Score: 1.8
- Description: "peroxisome proliferator-activated receptor gamma, coactivator 1 alpha"
- Chromosome: 4, Band: 4p15.1
- Gene Synonyms: LEM6, PGC-1(alpha), PGC-1v, PGC1, PGC1A, PPARGC1
- Other Descriptions: "OTTHUMP00000123372, PPAR gamma coactivator variant form, PPAR gamma coactivator-1, ligand effect modulator-6, peroxisome proliferative activated receptor, gamma, coactivator 1, alpha"
- Cross-references: NCBI: 10891, Ensembl: ENSG00000109819
-
Evidence:
- Pubmed Ids: 17579564,
- HuGE Navigator Score: 0.006
- GAD counts: yes=1, no=0, null=0
- Evidence Sources: HuGE Navigator, WikiGenes, GAD
-
PLA2G7
- Genotator Score: 1.8
- Description: "phospholipase A2, group VII (platelet-activating factor acetylhydrolase, plasma)"
- Chromosome: 6, Band: 6p21.2-p12
- Gene Synonyms: LDL-PLA2, PAFAH
- Other Descriptions: "OTTHUMP00000016555, phospholipase A2, group VII, platelet-activating factor acetylhydrolase"
- Cross-references: NCBI: 7941, Ensembl: ENSG00000146070
-
Evidence:
- Pubmed Ids: 11501940,
- HuGE Navigator Score: 0.006
- GAD counts: yes=1, no=0, null=0
- Evidence Sources: HuGE Navigator, GAD
-
F5
- Genotator Score: 1.6
- Description: "coagulation factor V (proaccelerin, labile factor)"
- Chromosome: 1, Band: 1q23
- Gene Synonyms: FVL, PCCF
- Other Descriptions: OTTHUMP00000032547, activated protein c cofactor, coagulation factor V, coagulation factor V jinjiang A2 domain, factor V Leiden
- Cross-references: NCBI: 2153, Ensembl: ENSG00000198734
-
Evidence:
- Pubmed Ids: 18685435, 18469551,
- HuGE Navigator Score: 0.012
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
F2
- Genotator Score: 1.6
- Description: coagulation factor II (thrombin)
- Chromosome: 11, Band: 11p11
- Gene Synonyms: PT
- Other Descriptions: coagulation factor II, prothrombin B-chain, serine protease
- Cross-references: NCBI: 2147, Ensembl: ENSG00000180210
-
Evidence:
- Pubmed Ids: 18685435, 18469551,
- HuGE Navigator Score: 0.012
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
IL1RN
- Genotator Score: 1.6
- Description: interleukin 1 receptor antagonist
- Chromosome: 2, Band: 2q14.2
- Gene Synonyms: DIRA, ICIL-1RA, IL-1ra3, IL1F3, IL1RA, IRAP, MGC10430, MVCD4
- Other Descriptions: IL1RN (IL1F3), intracellular IL-1 receptor antagonist type II, intracellular interleukin-1 receptor antagonist (icIL-1ra), type II interleukin-1 receptor antagonist
- Cross-references: NCBI: 3557, Ensembl: ENSG00000136689
-
Evidence:
- Pubmed Ids: 19811434, 17002905,
- HuGE Navigator Score: 0.012
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
AR
- Genotator Score: 1.6
- Description: androgen receptor
- Chromosome: X, Band: Xq11.2-q12
- Gene Synonyms: AIS, DHTR, HUMARA, HYSP1, KD, NR3C4, SBMA, SMAX1, TFM
- Other Descriptions: OTTHUMP00000023450, OTTHUMP00000061928, dihydrotestosterone receptor
- Cross-references: NCBI: 367, Ensembl: ENSG00000169083
-
Evidence:
- Pubmed Ids: 19167638, 18617186,
- HuGE Navigator Score: 0.012
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
SELE
- Genotator Score: 1.6
- Description: selectin E
- Chromosome: 1, Band: 1q22-q25
- Gene Synonyms: CD62E, ELAM, ELAM1, ESEL, LECAM2
- Other Descriptions: OTTHUMP00000032745, endothelial adhesion molecule 1, leukocyte endothelial cell adhesion molecule 2
- Cross-references: NCBI: 6401, Ensembl: ENSG00000007908
-
Evidence:
- Pubmed Ids: 16820586, 11466561,
- HuGE Navigator Score: 0.012
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
IL1A
- Genotator Score: 1.6
- Description: "interleukin 1, alpha"
- Chromosome: 2, Band: 2q14
- Gene Synonyms: IL-1A, IL1, IL1-ALPHA, IL1F1
- Other Descriptions: IL1A (IL1F1), hematopoietin-1, preinterleukin 1 alpha, pro-interleukin-1-alpha
- Cross-references: NCBI: 3552, Ensembl: ENSG00000115008
-
Evidence:
- Pubmed Ids: 17353161, 17002905,
- HuGE Navigator Score: 0.012
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
HLA-A
- Genotator Score: 1.6
- Description: "major histocompatibility complex, class I, A"
- Chromosome: 6, Band: 6p21.3
- Gene Synonyms: FLJ26655, HLAA
- Other Descriptions: "HLA class I histocompatibility antigen, A-23 alpha chain, MHC class I antigen HLA-A heavy chain, MHC leukocyte antigen, OTTHUMP00000161059, antigen presenting molecule, leucocyte antigen class I, leukocyte antigen class I-A"
- Cross-references: NCBI: 3105, Ensembl: ENSG00000206503
-
Evidence:
- Pubmed Ids: 14700597, 11053636,
- HuGE Navigator Score: 0.012
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
CCL2
- Genotator Score: 1.6
- Description: chemokine (C-C motif) ligand 2
- Chromosome: 17, Band: 17q11.2-q12
- Gene Synonyms: GDCF-2, HC11, HSMCR30, MCAF, MCP-1, MCP1, MGC9434, SCYA2, SMC-CF
- Other Descriptions: "monocyte chemoattractant protein-1, monocyte chemotactic and activating factor, monocyte secretory protein JE, small inducible cytokine A2, small inducible cytokine A2 (monocyte chemotactic protein 1, homologous to mouse Sig-je), small inducible cytokine subfamily A (Cys-Cys), member 2"
- Cross-references: NCBI: 6347, Ensembl: ENSG00000108691
-
Evidence:
- Pubmed Ids: 19632522, 16804844,
- HuGE Navigator Score: 0.012
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
GSTT1
- Genotator Score: 1.6
- Description: glutathione S-transferase theta 1
- Chromosome: 22, Band: 22q11.23
- Gene Synonyms:
- Other Descriptions:
- Cross-references: NCBI: 2952, Ensembl: ENSG00000184674
-
Evidence:
- Pubmed Ids: 19863340, 16798650,
- HuGE Navigator Score: 0.012
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
JPH2
- Genotator Score: 1.6
- Description: junctophilin 2
- Chromosome: 20, Band: 20q13.12
- Gene Synonyms: FLJ40969, JP-2, JP2
- Other Descriptions: OTTHUMP00000031651, OTTHUMP00000031652
- Cross-references: NCBI: 57158, Ensembl: ENSG00000149596
-
Evidence:
- Pubmed Ids: 17509612, 17476457,
- HuGE Navigator Score: 0.012
- GAD counts: yes=0, no=0, null=2
- Evidence Sources: GeneCards, HuGE Navigator, GAD
-
EDNRA
- Genotator Score: 1.6
- Description: endothelin receptor type A
- Chromosome: 4, Band: 4q31.23
- Gene Synonyms: ETA, ETRA
- Other Descriptions: G protein-coupled receptor
- Cross-references: NCBI: 1909, Ensembl: ENSG00000151617
-
Evidence:
- Pubmed Ids: 17198909, 11601839,
- HuGE Navigator Score: 0.012
- GAD counts: yes=0, no=0, null=2
- Evidence Sources: HuGE Navigator, GAD
-
TLR2
- Genotator Score: 1.6
- Description: toll-like receptor 2
- Chromosome: 4, Band: 4q32
- Gene Synonyms: CD282, TIL4
- Other Descriptions: toll/interleukin 1 receptor-like 4
- Cross-references: NCBI: 7097, Ensembl: ENSG00000137462
-
Evidence:
- Pubmed Ids: 19456234, 18368233,
- HuGE Navigator Score: 0.012
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
MMP3
- Genotator Score: 1.6
- Description: "matrix metallopeptidase 3 (stromelysin 1, progelatinase)"
- Chromosome: 11, Band: 11q22.3
- Gene Synonyms: CHDS6, MGC126102, MGC126103, MGC126104, MMP-3, SL-1, STMY, STMY1, STR1
- Other Descriptions: "matrix metalloproteinase 3, matrix metalloproteinase 3 (stromelysin 1, progelatinase), proteoglycanase, transin-1"
- Cross-references: NCBI: 4314, Ensembl: ENSG00000149968
-
Evidence:
- Pubmed Ids: 18028894, 15084374,
- HuGE Navigator Score: 0.012
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
GSTM1
- Genotator Score: 1.6
- Description: glutathione S-transferase mu 1
- Chromosome: 1, Band: 1p13.3
- Gene Synonyms: GST1, GSTM1-1, GSTM1a-1a, GSTM1b-1b, GTH4, GTM1, H-B, MGC26563, MU, MU-1
- Other Descriptions: GST class-mu 1, HB subunit 4, OTTHUMP00000013346, OTTHUMP00000013347, S-(hydroxyalkyl)glutathione lyase, glutathione S-alkyltransferase, glutathione S-aralkyltransferase, glutathione S-aryltransferase, glutathione S-transferase M1
- Cross-references: NCBI: 2944, Ensembl: ENSG00000134184
-
Evidence:
- Pubmed Ids: 19863340, 16798650,
- HuGE Navigator Score: 0.012
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
NFKBIL1
- Genotator Score: 1.6
- Description: nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor-like 1
- Chromosome: 6, Band: 6p21.3
- Gene Synonyms: IKBL, LST1, NFKBIL
- Other Descriptions: I-kappa-B-like protein, OTTHUMP00000029044, OTTHUMP00000036055, OTTHUMP00000036056, OTTHUMP00000036057, inhibitor of kappa light chain gene enhancer in B cells-like
- Cross-references: NCBI: 4795, Ensembl: ENSG00000204498
-
Evidence:
- Pubmed Ids: 17544510, 16101831,
- HuGE Navigator Score: 0.012
- GAD counts: yes=0, no=0, null=2
- Evidence Sources: HuGE Navigator, GAD
-
NOS3
- Genotator Score: 1.5
- Description: nitric oxide synthase 3 (endothelial cell)
- Chromosome: 7, Band: 7q36
- Gene Synonyms: ECNOS, eNOS
- Other Descriptions: nitric oxide synthase 3
- Cross-references: NCBI: 4846, Ensembl: ENSG00000164867
-
Evidence:
- Pubmed Ids: 18941922, 15778808, 12668492,
- HuGE Navigator Score: 0.019
- GAD counts: yes=0, no=1, null=0
- Evidence Sources: HuGE Navigator, GAD
-
RTN4
- Genotator Score: 1.4
- Description: reticulon 4
- Chromosome: 2, Band: 2p16.3
- Gene Synonyms: ASY, NI220/250, NOGO, NOGO-A, NOGOC, NSP, NSP-CL, Nbla00271, Nbla10545, Nogo-B, Nogo-C, RTN-X, RTN4-A, RTN4-B1, RTN4-B2, RTN4-C
- Other Descriptions: Human NogoA, My043 protein, foocen, neurite growth inhibitor 220, neurite outgrowth inhibitor, neuroendocrine-specific protein C homolog, reticulon 5
- Cross-references: NCBI: 57142, Ensembl: ENSG00000115310
-
Evidence:
- Pubmed Ids: 18948092,
- HuGE Navigator Score: 0.012
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
IL4
- Genotator Score: 1.4
- Description: interleukin 4
- Chromosome: 5, Band: 5q31.1
- Gene Synonyms: BCGF-1, BCGF1, BSF1, IL-4, MGC79402
- Other Descriptions: B cell growth factor 1, B_cell stimulatory factor 1, lymphocyte stimulatory factor 1
- Cross-references: NCBI: 3565, Ensembl: ENSG00000113520
-
Evidence:
- Pubmed Ids: 11897522,
- HuGE Navigator Score: 0.012
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
LAMP2
- Genotator Score: 1.4
- Description: lysosomal-associated membrane protein 2
- Chromosome: X, Band: Xq24
- Gene Synonyms: CD107b, LAMPB, LGP110
- Other Descriptions: OTTHUMP00000023943, OTTHUMP00000023944, lysosome-associated membrane protein 2
- Cross-references: NCBI: 3920, Ensembl: ENSG00000005893
-
Evidence:
- Pubmed Ids: 18403758,
- HuGE Navigator Score: 0.012
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: GeneCards, HuGE Navigator, WikiGenes
-
IRX4
- Genotator Score: 1.4
- Description: iroquois homeobox 4
- Chromosome: 5, Band: 5p15.3
- Gene Synonyms: IRXA3, MGC131996
- Other Descriptions: iroquois homeobox protein 4
- Cross-references: NCBI: 50805, Ensembl: ENSG00000113430
-
Evidence:
- Pubmed Ids: 18497553,
- HuGE Navigator Score: 0.012
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
NFKB1
- Genotator Score: 1.4
- Description: nuclear factor of kappa light polypeptide gene enhancer in B-cells 1
- Chromosome: 4, Band: 4q24
- Gene Synonyms: DKFZp686C01211, EBP-1, KBF1, MGC54151, NF-kappa-B, NFKB-p105, NFKB-p50, p105, p50
- Other Descriptions: "DNA binding factor KBF1, NF-kappabeta, nuclear factor NF-kappa-B p50 subunit, nuclear factor kappa-B DNA binding subunit, nuclear factor kappa-B, subunit 1"
- Cross-references: NCBI: 4790, Ensembl: ENSG00000109320
-
Evidence:
- Pubmed Ids: 19480714,
- HuGE Navigator Score: 0.012
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
FXN
- Genotator Score: 1.4
- Description: frataxin
- Chromosome: 9, Band: 9q13-q21.1
- Gene Synonyms: CyaY, FA, FARR, FRDA, MGC57199, X25
- Other Descriptions: OTTHUMP00000021428
- Cross-references: NCBI: 2395, Ensembl: ENSG00000165060
-
Evidence:
- Pubmed Ids: 18759347,
- HuGE Navigator Score: 0.012
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator, WikiGenes
-
SLC6A4
- Genotator Score: 1.4
- Description: "solute carrier family 6 (neurotransmitter transporter, serotonin), member 4"
- Chromosome: 17, Band: 17q11.1-q12
- Gene Synonyms: 5-HTT, 5-HTTLPR, 5HTT, HTT, OCD1, SERT, hSERT
- Other Descriptions: 5-hydroxytryptamine transporter, 5HT transporter, Na+/Cl- dependent serotonin transporter, sodium-dependent serotonin transporter, solute carrier family 6 member 4
- Cross-references: NCBI: 6532, Ensembl: ENSG00000108576
-
Evidence:
- Pubmed Ids: 16582043,
- HuGE Navigator Score: 0.012
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
MAP2K1
- Genotator Score: 1.2
- Description: mitogen-activated protein kinase kinase 1
- Chromosome: 15, Band: 15q22.1-q22.33
- Gene Synonyms: MAPKK1, MEK1, MKK1, PRKMK1
- Other Descriptions: "protein kinase, mitogen-activated, kinase 1 (MAP kinase kinase 1)"
- Cross-references: NCBI: 5604, Ensembl: ENSG00000169032
-
Evidence:
- Pubmed Ids:
- HuGE Navigator Score: 0.012
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
KCNH2
- Genotator Score: 1.2
- Description: "potassium voltage-gated channel, subfamily H (eag-related), member 2"
- Chromosome: 7, Band: 7q35-q36
- Gene Synonyms: ERG1, HERG, HERG1, Kv11.1, LQT2, SQT1
- Other Descriptions: "ether-a-go-go-related potassium channel protein, voltage-gated potassium channel, subfamily H, member 2"
- Cross-references: NCBI: 3757, Ensembl: ENSG00000055118
-
Evidence:
- Pubmed Ids:
- HuGE Navigator Score: 0.012
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
FHL1
- Genotator Score: 1.2
- Description: four and a half LIM domains 1
- Chromosome: X, Band: Xq26
- Gene Synonyms: FHL1B, FLH1A, KYOT, MGC111107, SLIM1, SLIMMER, XMPMA
- Other Descriptions: "OTTHUMP00000024097, four-and-a-half Lin11, Isl-1 and Mec-3 domains 1, skeletal muscle LIM-protein1"
- Cross-references: NCBI: 2273, Ensembl: ENSG00000022267
-
Evidence:
- Pubmed Ids:
- HuGE Navigator Score: 0.012
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
KCNE2
- Genotator Score: 1.2
- Description: "potassium voltage-gated channel, Isk-related family, member 2"
- Chromosome: 21, Band: 21q22.12
- Gene Synonyms: ATFB4, LQT5, LQT6, MGC138292, MIRP1
- Other Descriptions: "cardiac voltage-gated potassium channel accessory subunit 2, minK-related peptide-1, minimum potassium ion channel-related peptide 1, potassium channel subunit, MiRP1, potassium voltage-gated channel subfamily E member 2, voltage-gated K+ channel subunit MIRP1"
- Cross-references: NCBI: 9992, Ensembl: ENSG00000159197
-
Evidence:
- Pubmed Ids:
- HuGE Navigator Score: 0.012
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
ADIPOQ
- Genotator Score: 1.2
- Description: "adiponectin, C1Q and collagen domain containing"
- Chromosome: 3, Band: 3q27
- Gene Synonyms: ACDC, ACRP30, ADIPQTL1, ADPN, APM-1, APM1, GBP28, adiponectin
- Other Descriptions: "adipocyte, C1Q and collagen domain containing, adipocyte, C1Q and collagen domain-containing, adiponectin, adipose most abundant gene transcript 1, gelatin-binding protein 28"
- Cross-references: NCBI: 9370, Ensembl: ENSG00000181092
-
Evidence:
- Pubmed Ids:
- HuGE Navigator Score: 0.012
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
ENPP1
- Genotator Score: 1.2
- Description: ectonucleotide pyrophosphatase/phosphodiesterase 1
- Chromosome: 6, Band: 6q22-q23
- Gene Synonyms: M6S1, NPP1, NPPS, PC-1, PCA1, PDNP1
- Other Descriptions: "Ly-41 antigen, OTTHUMP00000043194, alkaline phosphodiesterase 1, membrane component, chromosome 6, surface marker 1, phosphodiesterase I/nucleotide pyrophosphatase 1, plasma-cell membrane glycoprotein 1"
- Cross-references: NCBI: 5167, Ensembl: ENSG00000197594
-
Evidence:
- Pubmed Ids:
- HuGE Navigator Score: 0.012
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
PON1
- Genotator Score: 1.2
- Description: paraoxonase 1
- Chromosome: 7, Band: 7q21.3
- Gene Synonyms: ESA, MVCD5, PON
- Other Descriptions: arylesterase B-type, esterase A, paraoxonase B-type, serum aryldiakylphosphatase
- Cross-references: NCBI: 5444, Ensembl: ENSG00000005421
-
Evidence:
- Pubmed Ids:
- HuGE Navigator Score: 0.012
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
SHOC2
- Genotator Score: 1.2
- Description: soc-2 suppressor of clear homolog (C. elegans)
- Chromosome: 10, Band: 10q25
- Gene Synonyms: FLJ60412, KIAA0862, SIAA0862, SOC-2, SOC2, SUR-8, SUR8
- Other Descriptions: "OTTHUMP00000020481, soc-2 suppressor of clear homolog, suppressor of clear, C. elegans, homolog of"
- Cross-references: NCBI: 8036, Ensembl: ENSG00000108061
-
Evidence:
- Pubmed Ids:
- HuGE Navigator Score: 0.012
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
PSEN1
- Genotator Score: 1.2
- Description: presenilin 1
- Chromosome: 14, Band: 14q24.3
- Gene Synonyms: AD3, FAD, PS1, S182
- Other Descriptions:
- Cross-references: NCBI: 5663, Ensembl: ENSG00000080815
-
Evidence:
- Pubmed Ids:
- HuGE Navigator Score: 0.012
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
RBM20
- Genotator Score: 1.2
- Description: RNA binding motif protein 20
- Chromosome: 10, Band: 10q25.2
- Gene Synonyms:
- Other Descriptions:
- Cross-references: NCBI: 282996, Ensembl:
-
Evidence:
- Pubmed Ids:
- HuGE Navigator Score: 0.012
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: GeneCards, HuGE Navigator, GenAtlas
-
KCNQ1
- Genotator Score: 1.2
- Description: "potassium voltage-gated channel, KQT-like subfamily, member 1"
- Chromosome: 11, Band: 11p15.5
- Gene Synonyms: ATFB1, ATFB3, FLJ26167, JLNS1, KCNA8, KCNA9, KVLQT1, Kv1.9, Kv7.1, LQT, LQT1, RWS, SQT2, WRS
- Other Descriptions: kidney and cardiac voltage dependend K+ channel, slow delayed rectifier channel subunit
- Cross-references: NCBI: 3784, Ensembl: ENSG00000053918
-
Evidence:
- Pubmed Ids:
- HuGE Navigator Score: 0.012
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
CYTB
- Genotator Score: 1.2
- Description: mitochondrially encoded cytochrome b
- Chromosome: MT, Band:
- Gene Synonyms: MTCYB
- Other Descriptions:
- Cross-references: NCBI: 4519, Ensembl:
-
Evidence:
- Pubmed Ids:
- HuGE Navigator Score: 0.012
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator, WikiGenes
-
CMYA5
- Genotator Score: 1.1
- Description: cardiomyopathy associated 5
- Chromosome: 5, Band: 5q14.1
- Gene Synonyms: C5orf10, DKFZp451G182, DKFZp451G223, SPRYD2, TRIM76
- Other Descriptions: 2310076E16Rik, genethonin-3, myospryn, tripartite motif-containing 76
- Cross-references: NCBI: 202333, Ensembl: ENSG00000164309
- Evidence:
-
IFNG
- Genotator Score: 1.1
- Description: "interferon, gamma"
- Chromosome: 12, Band: 12q14
- Gene Synonyms: IFG, IFI
- Other Descriptions:
- Cross-references: NCBI: 3458, Ensembl: ENSG00000111537
-
Evidence:
- Pubmed Ids: 15773449,
- HuGE Navigator Score: 0.019
- GAD counts: yes=0, no=1, null=0
- Evidence Sources: HuGE Navigator, GAD
-
SLC6A2
- Genotator Score: 1.1
- Description: "solute carrier family 6 (neurotransmitter transporter, noradrenalin), member 2"
- Chromosome: 16, Band: 16q12.2
- Gene Synonyms: NAT1, NET, NET1, SLC6A5
- Other Descriptions: "noradrenaline transporter, norepinephrine transporter, solute carrier family 6 (neurotransmitter transporter, norepinephrine), member 5, solute carrier family 6 member 2"
- Cross-references: NCBI: 6530, Ensembl: ENSG00000103546
-
Evidence:
- Pubmed Ids: 17404580,
- HuGE Navigator Score: 0.009
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
NEBL
- Genotator Score: 1.0
- Description: nebulette
- Chromosome: 10, Band: 10p12
- Gene Synonyms: FLJ53769, LNEBL, MGC119746, MGC119747, bA56H7.1
- Other Descriptions: "LIM-nebulette, NEBL, actin-binding Z-disc protein, OTTHUMP00000019268, actin-binding Z-disk protein"
- Cross-references: NCBI: 10529, Ensembl: ENSG00000078114
- Evidence:
-
SCO2
- Genotator Score: 1.0
- Description: SCO cytochrome oxidase deficient homolog 2 (yeast)
- Chromosome: 22, Band: 22q13.33
- Gene Synonyms: MGC125823, MGC125825, SCO1L
- Other Descriptions: "OTTHUMP00000196773, SCO (cytochrome oxidase deficient, yeast) homolog 2, cytochrome oxidase deficient homolog 2"
- Cross-references: NCBI: 9997, Ensembl: ENSG00000130489
- Evidence:
-
MEF2A
- Genotator Score: 0.8
- Description: myocyte enhancer factor 2A
- Chromosome: 15, Band: 15q26
- Gene Synonyms: ADCAD1, RSRFC4, RSRFC9
- Other Descriptions: "MADS box transcription enhancer factor 2, polypeptide A (myocyte enhancer factor 2A)"
- Cross-references: NCBI: 4205, Ensembl:
-
Evidence:
- Pubmed Ids: 19161138,
- HuGE Navigator Score: 0.006
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
CYP2E1
- Genotator Score: 0.8
- Description: "cytochrome P450, family 2, subfamily E, polypeptide 1"
- Chromosome: 10, Band: 10q24.3-qter
- Gene Synonyms: CPE1, CYP2E, P450-J, P450C2E
- Other Descriptions: "OTTHUMP00000020813, OTTHUMP00000046571, cytochrome P450 2E1, cytochrome P450, subfamily IIE (ethanol-inducible), polypeptide 1, flavoprotein-linked monooxygenase, microsomal monooxygenase, xenobiotic monooxygenase"
- Cross-references: NCBI: 1571, Ensembl: ENSG00000130649
-
Evidence:
- Pubmed Ids: 11696658,
- HuGE Navigator Score: 0.006
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
RYR2
- Genotator Score: 0.8
- Description: ryanodine receptor 2 (cardiac)
- Chromosome: 1, Band: 1q42.1-q43
- Gene Synonyms: ARVC2, ARVD2, VTSIP
- Other Descriptions: cardiac muscle ryanodine receptor, cardiac muscle ryanodine receptor-calcium release channel
- Cross-references: NCBI: 6262, Ensembl:
- Evidence:
-
ADRB3
- Genotator Score: 0.8
- Description: "adrenergic, beta-3-, receptor"
- Chromosome: 8, Band: 8p12-p11.2
- Gene Synonyms: BETA3AR, FLJ99960
- Other Descriptions:
- Cross-references: NCBI: 155, Ensembl: ENSG00000188778
-
Evidence:
- Pubmed Ids: 15464701,
- HuGE Navigator Score: 0.006
- GAD counts: yes=0, no=0, null=1
- Evidence Sources: HuGE Navigator, GAD
-
IL23R
- Genotator Score: 0.8
- Description: interleukin 23 receptor
- Chromosome: 1, Band: 1p31.3
- Gene Synonyms:
- Other Descriptions: OTTHUMP00000010660
- Cross-references: NCBI: 149233, Ensembl: ENSG00000162594
-
Evidence:
- Pubmed Ids: 19317742,
- HuGE Navigator Score: 0.006
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
CYP2C9
- Genotator Score: 0.8
- Description: "cytochrome P450, family 2, subfamily C, polypeptide 9"
- Chromosome: 10, Band: 10q24
- Gene Synonyms: CPC9, CYP2C, CYP2C10, MGC149605, MGC88320, P450IIC9
- Other Descriptions: "OTTHUMP00000020135, cytochrome P-450 S-mephenytoin 4-hydroxylase, cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 10, cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 9, cytochrome p4502C9, flavoprotein-linked monooxygenase, microsomal monooxygenase, xenobiotic monooxygenase"
- Cross-references: NCBI: 1559, Ensembl: ENSG00000138109
-
Evidence:
- Pubmed Ids: 19077919,
- HuGE Navigator Score: 0.006
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
VKORC1
- Genotator Score: 0.8
- Description: "vitamin K epoxide reductase complex, subunit 1"
- Chromosome: 16, Band: 16p11.2
- Gene Synonyms: EDTP308, FLJ00289, IMAGE3455200, MGC2694, MST134, MST576, VKCFD2, VKOR
- Other Descriptions: phylloquinone epoxide reductase, vitamin K dependent clotting factors deficiency 2, vitamin K1 epoxide reductase (warfarin-sensitive)
- Cross-references: NCBI: 79001, Ensembl: ENSG00000167397
-
Evidence:
- Pubmed Ids: 19077919,
- HuGE Navigator Score: 0.006
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
SLC22A5
- Genotator Score: 0.8
- Description: "solute carrier family 22 (organic cation/carnitine transporter), member 5"
- Chromosome: 5, Band: 5q31
- Gene Synonyms: CDSP, FLJ46769, OCTN2, OCTN2VT
- Other Descriptions: "high-affinity sodium dependent carnitine cotransporter, organic cation transporter 2, organic cation transporter 5, organic cation/carnitine transporter 2, solute carrier family 22 (organic cation transporter), member 5, solute carrier family 22 member 5"
- Cross-references: NCBI: 6584, Ensembl: ENSG00000197375
-
Evidence:
- Pubmed Ids: 18337137,
- HuGE Navigator Score: 0.006
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator, GenAtlas, WikiGenes
-
SLC3A1
- Genotator Score: 0.8
- Description: "solute carrier family 3 (cystine, dibasic and neutral amino acid transporters, activator of cystine, dibasic and neutral amino acid transport), member 1"
- Chromosome: 2, Band: 2p16.3
- Gene Synonyms: ATR1, CSNU1, D2H, FLJ34681, NBAT, RBAT
- Other Descriptions: "B(0,+)-type amino acid transport protein, SLC3A1 variant B, SLC3A1 variant C, SLC3A1 variant D, SLC3A1 variant E, SLC3A1 variant F, SLC3A1 variant G, amino acid transporter 1, solute carrier family 3 (cystine, dibasic and neutral amino acid transporters), member 1, solute carrier family 3, member 1"
- Cross-references: NCBI: 6519, Ensembl: ENSG00000138079
-
Evidence:
- Pubmed Ids: 20146678,
- HuGE Navigator Score: 0.006
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
GNAS
- Genotator Score: 0.8
- Description: GNAS complex locus
- Chromosome: 20, Band: 20q13.3
- Gene Synonyms: AHO, C20orf45, GNAS1, GPSA, GSA, GSP, MGC33735, NESP, PHP1A, PHP1B, POH, dJ309F20.1.1, dJ806M20.3.3
- Other Descriptions: "OTTHUMP00000031740, OTTHUMP00000031756, OTTHUMP00000196026, OTTHUMP00000196030, adenylate cyclase-stimulating G alpha protein, guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1, guanine nucleotide regulatory protein, neuroendocrine secretory protein, secretogranin VI"
- Cross-references: NCBI: 2778, Ensembl: ENSG00000087460
-
Evidence:
- Pubmed Ids: 19136681,
- HuGE Navigator Score: 0.006
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
IL12B
- Genotator Score: 0.8
- Description: "interleukin 12B (natural killer cell stimulatory factor 2, cytotoxic lymphocyte maturation factor 2, p40)"
- Chromosome: 5, Band: 5q31.1-q33.1
- Gene Synonyms: CLMF, CLMF2, IL-12B, NKSF, NKSF2
- Other Descriptions: "IL12, subunit p40, OTTHUMP00000160820, interleukin 12, p40, interleukin 12B, interleukin-12 beta chain, natural killer cell stimulatory factor, 40 kD subunit"
- Cross-references: NCBI: 3593, Ensembl: ENSG00000113302
-
Evidence:
- Pubmed Ids: 17644387,
- HuGE Navigator Score: 0.006
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
GNB3
- Genotator Score: 0.8
- Description: "guanine nucleotide binding protein (G protein), beta polypeptide 3"
- Chromosome: 12, Band: 12p13
- Gene Synonyms:
- Other Descriptions: "G protein, beta-3 subunit, GTP-binding regulatory protein beta-3 chain, guanine nucleotide-binding protein G(I)/G(S)/G(T) beta subunit 3, guanine nucleotide-binding protein, beta-3 subunit, hypertension associated protein, transducin beta chain 3"
- Cross-references: NCBI: 2784, Ensembl: ENSG00000111664
-
Evidence:
- Pubmed Ids: 15389246,
- HuGE Navigator Score: 0.006
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
MT2A
- Genotator Score: 0.8
- Description: metallothionein 2A
- Chromosome: 16, Band: 16q13
- Gene Synonyms: MT2
- Other Descriptions:
- Cross-references: NCBI: 4502, Ensembl: ENSG00000125148
-
Evidence:
- Pubmed Ids: 16518702,
- HuGE Navigator Score: 0.006
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
IL2
- Genotator Score: 0.8
- Description: interleukin 2
- Chromosome: 4, Band: 4q26-q27
- Gene Synonyms: IL-2, TCGF, lymphokine
- Other Descriptions: T cell growth factor, aldesleukin, interleukin-2, involved in regulation of T-cell clonal expansion
- Cross-references: NCBI: 3558, Ensembl: ENSG00000109471
-
Evidence:
- Pubmed Ids: 18543227,
- HuGE Navigator Score: 0.006
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
MICA
- Genotator Score: 0.8
- Description: MHC class I polypeptide-related sequence A
- Chromosome: 6, Band: 6p21.33
- Gene Synonyms: FLJ60820, MGC111087, PERB11.1
- Other Descriptions: HLA class I antigen, MHC class I chain-related gene A protein, MHC class I chain-related protein A, OTTHUMP00000029088, OTTHUMP00000035033, OTTHUMP00000035034, Stress inducible class I homolog
- Cross-references: NCBI: 4276, Ensembl:
-
Evidence:
- Pubmed Ids: 16101831,
- HuGE Navigator Score: 0.006
- GAD counts: yes=0, no=0, null=2
- Evidence Sources: HuGE Navigator, GAD
-
ADH1C
- Genotator Score: 0.8
- Description: "alcohol dehydrogenase 1C (class I), gamma polypeptide"
- Chromosome: 4, Band: 4q21-q23
- Gene Synonyms: ADH3
- Other Descriptions: "ADH, gamma subunit, alcohol dehydrogenase 3 (class I), gamma polypeptide, aldehyde reductase, class I alcohol dehydrogenase, gamma subunit"
- Cross-references: NCBI: 126, Ensembl:
-
Evidence:
- Pubmed Ids: 11696658,
- HuGE Navigator Score: 0.006
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
ADH1B
- Genotator Score: 0.8
- Description: "alcohol dehydrogenase 1B (class I), beta polypeptide"
- Chromosome: 4, Band: 4q21-q23
- Gene Synonyms: ADH2, DKFZp686C06125
- Other Descriptions: "ADH, beta subunit, alcohol dehydrogenase 2 (class I), beta polypeptide, aldehyde reductase, class I alcohol dehydrogenase, beta subunit"
- Cross-references: NCBI: 125, Ensembl: ENSG00000196616
-
Evidence:
- Pubmed Ids: 11696658,
- HuGE Navigator Score: 0.006
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
EGFR
- Genotator Score: 0.8
- Description: "epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"
- Chromosome: 7, Band: 7p12
- Gene Synonyms: ERBB, ERBB1, HER1, PIG61, mENA
- Other Descriptions: avian erythroblastic leukemia viral (v-erb-b) oncogene homolog, cell growth inhibiting protein 40, cell proliferation-inducing protein 61, epidermal growth factor receptor
- Cross-references: NCBI: 1956, Ensembl: ENSG00000146648
-
Evidence:
- Pubmed Ids: 19265688,
- HuGE Navigator Score: 0.006
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
HLA-C
- Genotator Score: 0.8
- Description: "major histocompatibility complex, class I, C"
- Chromosome: 6, Band: 6p21.3
- Gene Synonyms: D6S204, FLJ27082, HLA-Cw, HLA-Cw12, HLA-JY3, HLC-C, PSORS1
- Other Descriptions: "HLA class I antigen, HLA class I heavy chain, HLA class I histocompatibility antigen, C alpha chain, HLA-C (Cw*1201), HLA-Cw*050x, MHC class I HLA-C, MHC class I HLA-Cw*0803, MHC class I antigen HLA-C, MHC class I antigen heavy chain HLA-C, MHC class I protein HLA-C heavy chain, OTTHUMP00000029213, class I MHC antigen HLA-B heavy chain, human leukocyte antigen-C alpha chain, leucocyte antigen C, leucocyte antigen Cw, leukocyte antigen-C alpha chain, major histocompatibility antigen HLA-C"
- Cross-references: NCBI: 3107, Ensembl: ENSG00000204525
-
Evidence:
- Pubmed Ids: 11053636,
- HuGE Navigator Score: 0.006
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
HLA-G
- Genotator Score: 0.8
- Description: "major histocompatibility complex, class I, G"
- Chromosome: 6, Band: 6p21.3
- Gene Synonyms: MHC-G
- Other Descriptions: "HLA class I molecule, HLA-G histocompatibility antigen, class I, G, MHC class I antigen, OTTHUMP00000039485, b2 microglobulin"
- Cross-references: NCBI: 3135, Ensembl: ENSG00000204632
-
Evidence:
- Pubmed Ids: 17854427,
- HuGE Navigator Score: 0.006
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
HSPB6
- Genotator Score: 0.8
- Description: "heat shock protein, alpha-crystallin-related, B6"
- Chromosome: 19, Band: 19q13.12
- Gene Synonyms: FLJ32389, Hsp20
- Other Descriptions:
- Cross-references: NCBI: 126393, Ensembl: ENSG00000004776
-
Evidence:
- Pubmed Ids: 18790732,
- HuGE Navigator Score: 0.006
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
BAT1
- Genotator Score: 0.8
- Description: HLA-B associated transcript 1
- Chromosome: 6, Band: 6p21.3
- Gene Synonyms: D6S81E, DDX39B, UAP56
- Other Descriptions: 56 kDa U2AF65-associated protein, ATP-dependent RNA helicase p47, DEAD (Asp-Glu-Ala-Asp) box polypeptide 39B, DEAD-box protein UAP56, OTTHUMP00000029228, OTTHUMP00000029229, OTTHUMP00000035591, OTTHUMP00000035963, OTTHUMP00000035964, OTTHUMP00000035965, OTTHUMP00000035966, OTTHUMP00000035968, OTTHUMP00000165889, nuclear RNA helicase (DEAD family), spliceosome RNA helicase BAT1
- Cross-references: NCBI: 7919, Ensembl: ENSG00000198563
-
Evidence:
- Pubmed Ids: 16101831,
- HuGE Navigator Score: 0.006
- GAD counts: yes=0, no=0, null=1
- Evidence Sources: HuGE Navigator, GAD
-
FKTN
- Genotator Score: 0.8
- Description: fukutin
- Chromosome: 9, Band: 9q31-q33
- Gene Synonyms: CMD1X, FCMD, LGMD2M, MGC126857, MGC134944, MGC134945, MGC138243
- Other Descriptions: Fukuyama type congenital muscular dystrophy protein, OTTHUMP00000021841
- Cross-references: NCBI: 2218, Ensembl: ENSG00000106692
-
Evidence:
- Pubmed Ids: 19015585,
- HuGE Navigator Score: 0.006
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: OMIM, GeneCards, HuGE Navigator
-
ABCB1
- Genotator Score: 0.8
- Description: "ATP-binding cassette, sub-family B (MDR/TAP), member 1"
- Chromosome: 7, Band: 7q21.1
- Gene Synonyms: ABC20, CD243, CLCS, GP170, MDR1, MGC163296, P-GP, PGY1
- Other Descriptions: "ATP-binding cassette, subfamily B, member 1, P-glycoprotein 1, colchicin sensitivity, doxorubicin resistance, multidrug resistance protein 1"
- Cross-references: NCBI: 5243, Ensembl: ENSG00000085563
-
Evidence:
- Pubmed Ids: 19605531,
- HuGE Navigator Score: 0.006
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
LEPR
- Genotator Score: 0.8
- Description: leptin receptor
- Chromosome: 1, Band: 1p31
- Gene Synonyms: CD295, OBR
- Other Descriptions: OB receptor, OTTHUMP00000010693, OTTHUMP00000010694
- Cross-references: NCBI: 3953, Ensembl: ENSG00000116678
-
Evidence:
- Pubmed Ids: 19337797,
- HuGE Navigator Score: 0.006
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
HP
- Genotator Score: 0.8
- Description: haptoglobin
- Chromosome: 16, Band: 16q22.1
- Gene Synonyms: BP, HP2-ALPHA-2, HPA1S, MGC111141
- Other Descriptions: "binding peptide, haptoglobin alpha(1S)-beta, haptoglobin alpha(2FS)-beta, haptoglobin, alpha polypeptide, haptoglobin, beta polypeptide"
- Cross-references: NCBI: 3240, Ensembl: ENSG00000197711
-
Evidence:
- Pubmed Ids: 19804773,
- HuGE Navigator Score: 0.006
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
CAT
- Genotator Score: 0.8
- Description: catalase
- Chromosome: 11, Band: 11p13
- Gene Synonyms: MGC138422, MGC138424
- Other Descriptions:
- Cross-references: NCBI: 847, Ensembl: ENSG00000121691
-
Evidence:
- Pubmed Ids: 19863340,
- HuGE Navigator Score: 0.006
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
APLN
- Genotator Score: 0.8
- Description: apelin
- Chromosome: X, Band: Xq25-q26.3
- Gene Synonyms: XNPEP2
- Other Descriptions: "apelin, AGTRL1 ligand, peptide ligand for APJ receptor"
- Cross-references: NCBI: 8862, Ensembl: ENSG00000171388
-
Evidence:
- Pubmed Ids: 17826642,
- HuGE Navigator Score: 0.006
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: GeneCards, HuGE Navigator, WikiGenes
-
ESR1
- Genotator Score: 0.8
- Description: estrogen receptor 1
- Chromosome: 6, Band: 6q25.1
- Gene Synonyms: DKFZp686N23123, ER, ESR, ESRA, Era, NR3A1
- Other Descriptions: OTTHUMP00000017718, OTTHUMP00000017719, estrogen receptor alpha
- Cross-references: NCBI: 2099, Ensembl: ENSG00000091831
-
Evidence:
- Pubmed Ids: 18617186,
- HuGE Navigator Score: 0.006
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
ESR2
- Genotator Score: 0.8
- Description: estrogen receptor 2 (ER beta)
- Chromosome: 14, Band: 14q23.2
- Gene Synonyms: ER-BETA, ESR-BETA, ESRB, ESTRB, Erb, NR3A2
- Other Descriptions: estrogen receptor beta, estrogen receptor beta 4
- Cross-references: NCBI: 2100, Ensembl: ENSG00000140009
-
Evidence:
- Pubmed Ids: 18617186,
- HuGE Navigator Score: 0.006
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
CHRM2
- Genotator Score: 0.8
- Description: "cholinergic receptor, muscarinic 2"
- Chromosome: 7, Band: 7q31-q35
- Gene Synonyms: FLJ43243, HM2, MGC120006, MGC120007
- Other Descriptions: "7TM receptor, cholinergic receptor, muscarinic 2, isoform a, muscarinic M2 receptor, muscarinic acetylcholine receptor M2"
- Cross-references: NCBI: 1129, Ensembl: ENSG00000181072
-
Evidence:
- Pubmed Ids: 18451336,
- HuGE Navigator Score: 0.006
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: GeneCards, HuGE Navigator
-
GAA
- Genotator Score: 0.8
- Description: "glucosidase, alpha; acid"
- Chromosome: 17, Band: 17q25.2-q25.3
- Gene Synonyms: LYAG
- Other Descriptions: acid alpha-glucosidase, acid maltase, lysosomal alpha-glucosidase
- Cross-references: NCBI: 2548, Ensembl: ENSG00000171298
-
Evidence:
- Pubmed Ids: 18757064,
- HuGE Navigator Score: 0.006
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: GeneCards, HuGE Navigator, WikiGenes
-
TFAM
- Genotator Score: 0.8
- Description: "transcription factor A, mitochondrial"
- Chromosome: 10, Band: 10q21
- Gene Synonyms: MtTF1, TCF6, TCF6L1, TCF6L2, TCF6L3, mtTFA
- Other Descriptions: OTTHUMP00000019633, Transcription factor 6-like 2 (mitochondrial transcription factor), mitochondrial transcription factor A
- Cross-references: NCBI: 7019, Ensembl: ENSG00000108064
-
Evidence:
- Pubmed Ids: 19096125,
- HuGE Navigator Score: 0.006
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
KL
- Genotator Score: 0.8
- Description: klotho
- Chromosome: 13, Band: 13q12
- Gene Synonyms:
- Other Descriptions: OTTHUMP00000018796
- Cross-references: NCBI: 9365, Ensembl: ENSG00000133116
-
Evidence:
- Pubmed Ids: 19246844,
- HuGE Navigator Score: 0.006
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
LEP
- Genotator Score: 0.8
- Description: leptin
- Chromosome: 7, Band: 7q31.3
- Gene Synonyms: FLJ94114, OB, OBS
- Other Descriptions: "leptin (murine obesity homolog), leptin (obesity homolog, mouse), obese, mouse, homolog of, obesity factor"
- Cross-references: NCBI: 3952, Ensembl: ENSG00000174697
-
Evidence:
- Pubmed Ids: 19337797,
- HuGE Navigator Score: 0.006
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
ACE2
- Genotator Score: 0.8
- Description: angiotensin I converting enzyme (peptidyl-dipeptidase A) 2
- Chromosome: X, Band: Xp22
- Gene Synonyms: ACEH, DKFZp434A014
- Other Descriptions: ACE-related carboxypeptidase, OTTHUMP00000022963, angiotensin I converting enzyme 2, angiotensin converting enzyme-like protein
- Cross-references: NCBI: 59272, Ensembl: ENSG00000130234
-
Evidence:
- Pubmed Ids: 18208662,
- HuGE Navigator Score: 0.006
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: GeneCards, HuGE Navigator
-
ADORA3
- Genotator Score: 0.8
- Description: adenosine A3 receptor
- Chromosome: 1, Band: 1p13.2
- Gene Synonyms: A3AR, AD026, bA552M11.5
- Other Descriptions: OTTHUMP00000013476, OTTHUMP00000013739, OTTHUMP00000082917
- Cross-references: NCBI: 140, Ensembl: ENSG00000121933
-
Evidence:
- Pubmed Ids: 17728764,
- HuGE Navigator Score: 0.006
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
EDN2
- Genotator Score: 0.8
- Description: endothelin 2
- Chromosome: 1, Band: 1p34
- Gene Synonyms: ET2, PPET2
- Other Descriptions: OTTHUMP00000007075, preproendothelin 2
- Cross-references: NCBI: 1907, Ensembl: ENSG00000127129
-
Evidence:
- Pubmed Ids: 18037749,
- HuGE Navigator Score: 0.006
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
PDLIM3
- Genotator Score: 0.8
- Description: PDZ and LIM domain 3
- Chromosome: 4, Band: 4q35
- Gene Synonyms: ALP, DKFZp686L0362
- Other Descriptions: PDZ and LIM domain protein 3, alpha-actinin-2-associated LIM protein, enigma homolog
- Cross-references: NCBI: 27295, Ensembl: ENSG00000154553
-
Evidence:
- Pubmed Ids: 19412328,
- HuGE Navigator Score: 0.006
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: GeneCards, HuGE Navigator
-
PTPN22
- Genotator Score: 0.8
- Description: "protein tyrosine phosphatase, non-receptor type 22 (lymphoid)"
- Chromosome: 1, Band: 1p13.3-p13.1
- Gene Synonyms: LYP, LYP1, LYP2, PEP, PTPN8
- Other Descriptions: "OTTHUMP00000013720, PEST-domain phosphatase, lymphoid-specific protein tyrosine phosphatase, protein tyrosine phosphatase, non-receptor type 8"
- Cross-references: NCBI: 26191, Ensembl: ENSG00000134242
-
Evidence:
- Pubmed Ids: 17493151,
- HuGE Navigator Score: 0.006
- GAD counts: yes=0, no=0, null=1
- Evidence Sources: HuGE Navigator, GAD
-
ADORA1
- Genotator Score: 0.8
- Description: adenosine A1 receptor
- Chromosome: 1, Band: 1q32.1
- Gene Synonyms: RDC7
- Other Descriptions: OTTHUMP00000039090, OTTHUMP00000039091
- Cross-references: NCBI: 134, Ensembl: ENSG00000163485
-
Evidence:
- Pubmed Ids: 17728764,
- HuGE Navigator Score: 0.006
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
APOE
- Genotator Score: 0.8
- Description: apolipoprotein E
- Chromosome: 19, Band: 19q13.2
- Gene Synonyms: AD2, LDLCQ5, LPG, MGC1571
- Other Descriptions: apolipoprotein E3
- Cross-references: NCBI: 348, Ensembl: ENSG00000130203
-
Evidence:
- Pubmed Ids: 16714771,
- HuGE Navigator Score: 0.006
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
CCR2
- Genotator Score: 0.8
- Description: chemokine (C-C motif) receptor 2
- Chromosome: 3, Band: 3p21.31
- Gene Synonyms: CC-CKR-2, CCR2A, CCR2B, CD192, CKR2, CKR2A, CKR2B, CMKBR2, FLJ78302, MCP-1-R, MGC103828, MGC111760, MGC168006
- Other Descriptions: MCP-1 receptor, monocyte chemoattractant protein 1 receptor, monocyte chemotactic protein 1 receptor
- Cross-references: NCBI: 729230, Ensembl:
-
Evidence:
- Pubmed Ids: 12426226,
- HuGE Navigator Score: 0.006
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
ADRBK1
- Genotator Score: 0.8
- Description: "adrenergic, beta, receptor kinase 1"
- Chromosome: 11, Band: 11q13.1
- Gene Synonyms: BARK1, BETA-ARK1, FLJ16718, GRK2
- Other Descriptions: beta-adrenergic receptor kinase 1
- Cross-references: NCBI: 156, Ensembl: ENSG00000173020
-
Evidence:
- Pubmed Ids: 18425130,
- HuGE Navigator Score: 0.006
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: GeneCards, HuGE Navigator
-
POMC
- Genotator Score: 0.8
- Description: proopiomelanocortin
- Chromosome: 2, Band: 2p23.3
- Gene Synonyms: ACTH, CLIP, LPH, MSH, NPP, POC
- Other Descriptions: OTTHUMP00000119991, adrenocorticotropic hormone, adrenocorticotropin, alpha-MSH, alpha-melanocyte-stimulating hormone, beta-LPH, beta-MSH, beta-endorphin, beta-melanocyte-stimulating hormone, corticotropin-like intermediary peptide, gamma-LPH, gamma-MSH, lipotropin beta, lipotropin gamma, melanotropin alpha, melanotropin beta, melanotropin gamma, met-enkephalin, pro-ACTH-endorphin, proopiomelanocortin preproprotein
- Cross-references: NCBI: 5443, Ensembl: ENSG00000115138
-
Evidence:
- Pubmed Ids: 19337797,
- HuGE Navigator Score: 0.006
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
SLC11A1
- Genotator Score: 0.8
- Description: "solute carrier family 11 (proton-coupled divalent metal ion transporters), member 1"
- Chromosome: 2, Band: 2q35
- Gene Synonyms: LSH, NRAMP, NRAMP1
- Other Descriptions: "natural resistance-associated macrophage protein 1, solute carrier family 11 (sodium/phosphate symporters), member 1"
- Cross-references: NCBI: 6556, Ensembl: ENSG00000018280
-
Evidence:
- Pubmed Ids: 11380946,
- HuGE Navigator Score: 0.006
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
ALMS1
- Genotator Score: 0.8
- Description: Alstrom syndrome 1
- Chromosome: 2, Band: 2p13
- Gene Synonyms: ALSS, DKFZp686A118, DKFZp686D1828, KIAA0328
- Other Descriptions:
- Cross-references: NCBI: 7840, Ensembl: ENSG00000116127
-
Evidence:
- Pubmed Ids: 17594715,
- HuGE Navigator Score: 0.006
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator, GenAtlas, WikiGenes
-
ABCG2
- Genotator Score: 0.8
- Description: "ATP-binding cassette, sub-family G (WHITE), member 2"
- Chromosome: 4, Band: 4q22
- Gene Synonyms: ABC15, ABCP, BCRP, BCRP1, BMDP, CD338, CDw338, EST157481, MGC102821, MRX, MXR, MXR1
- Other Descriptions: "ABC transporter, ATP-binding cassette transporter G2, ATP-binding cassette, sub-family G, member 2, breast cancer resistance protein, mitoxantrone resistance protein, placenta specific MDR protein"
- Cross-references: NCBI: 9429, Ensembl: ENSG00000118777
-
Evidence:
- Pubmed Ids: 19605531,
- HuGE Navigator Score: 0.006
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
GRK5
- Genotator Score: 0.8
- Description: G protein-coupled receptor kinase 5
- Chromosome: 10, Band: 10q24-qter
- Gene Synonyms: GPRK5
- Other Descriptions:
- Cross-references: NCBI: 2869, Ensembl: ENSG00000198873
-
Evidence:
- Pubmed Ids: 18425130,
- HuGE Navigator Score: 0.006
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
PPARG
- Genotator Score: 0.8
- Description: peroxisome proliferator-activated receptor gamma
- Chromosome: 3, Band: 3p25
- Gene Synonyms: CIMT1, NR1C3, PPARG1, PPARG2, PPARgamma
- Other Descriptions: OTTHUMP00000185030, OTTHUMP00000185033, OTTHUMP00000185037, PPAR gamma, nuclear receptor subfamily 1 group C member 3, peroxisome proliferative activated receptor gamma, peroxisome proliferator-activated receptor gamma 1
- Cross-references: NCBI: 5468, Ensembl: ENSG00000132170
-
Evidence:
- Pubmed Ids: 18313022,
- HuGE Navigator Score: 0.006
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
KCNJ11
- Genotator Score: 0.8
- Description: "potassium inwardly-rectifying channel, subfamily J, member 11"
- Chromosome: 11, Band: 11p15.1
- Gene Synonyms: BIR, HHF2, IKATP, KIR6.2, MGC133230, PHHI, TNDM3
- Other Descriptions: ATP-sensitive inward rectifier potassium channel 11, beta-cell inward rectifier subunit, inwardly rectifying potassium channel KIR6.2, potassium inwardly-rectifying channel J11
- Cross-references: NCBI: 3767, Ensembl: ENSG00000187486
-
Evidence:
- Pubmed Ids: 18504616,
- HuGE Navigator Score: 0.006
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
EDNRB
- Genotator Score: 0.8
- Description: endothelin receptor type B
- Chromosome: 13, Band: 13q22
- Gene Synonyms: ABCDS, ETB, ETBR, ETRB, HSCR, HSCR2
- Other Descriptions: OTTHUMP00000178736, endothelin receptor non-selective type
- Cross-references: NCBI: 1910, Ensembl: ENSG00000136160
-
Evidence:
- Pubmed Ids: 11601839,
- HuGE Navigator Score: 0.006
- GAD counts: yes=0, no=0, null=1
- Evidence Sources: HuGE Navigator, GAD
-
ICAM1
- Genotator Score: 0.8
- Description: intercellular adhesion molecule 1
- Chromosome: 19, Band: 19p13.3-p13.2
- Gene Synonyms: BB2, CD54, P3.58
- Other Descriptions: "cell surface glycoprotein P3.58, human rhinovirus receptor, intercellular adhesion molecule 1 (CD54), human rhinovirus receptor"
- Cross-references: NCBI: 3383, Ensembl: ENSG00000090339
-
Evidence:
- Pubmed Ids: 16820586,
- HuGE Navigator Score: 0.006
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
ADAM17
- Genotator Score: 0.8
- Description: ADAM metallopeptidase domain 17
- Chromosome: 2, Band: 2p25
- Gene Synonyms: CD156B, CSVP, MGC71942, TACE
- Other Descriptions: "TNF-alpha converting enzyme, a disintegrin and metalloprotease domain 17, snake venom-like protease, tumor necrosis factor, alpha, converting enzyme"
- Cross-references: NCBI: 6868, Ensembl: ENSG00000151694
-
Evidence:
- Pubmed Ids: 18442814,
- HuGE Navigator Score: 0.006
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
NPPA
- Genotator Score: 0.8
- Description: natriuretic peptide precursor A
- Chromosome: 1, Band: 1p36.21
- Gene Synonyms: ANF, ANP, ATFB6, CDD-ANF, PND
- Other Descriptions: OTTHUMP00000002504, OTTHUMP00000044485, atrial natriuretic factor, atriopeptin, cardionatrin, prepronatriodilatin
- Cross-references: NCBI: 4878, Ensembl: ENSG00000175206
-
Evidence:
- Pubmed Ids: 20137368,
- HuGE Navigator Score: 0.006
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: GeneCards, HuGE Navigator
-
CALM3
- Genotator Score: 0.8
- Description: "calmodulin 3 (phosphorylase kinase, delta)"
- Chromosome: 19, Band: 19q13.2-q13.3
- Gene Synonyms: PHKD, PHKD3
- Other Descriptions: calmodulin 3
- Cross-references: NCBI: 808, Ensembl: ENSG00000160014
-
Evidence:
- Pubmed Ids: 19429631,
- HuGE Navigator Score: 0.006
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
FCGR2A
- Genotator Score: 0.8
- Description: "Fc fragment of IgG, low affinity IIa, receptor (CD32)"
- Chromosome: 1, Band: 1q23
- Gene Synonyms: CD32, CD32A, CDw32, FCG2, FCGR2, FCGR2A1, FcGR, IGFR2, MGC23887, MGC30032
- Other Descriptions: "Fc fragment of IgG, low affinity IIa, receptor, Immunoglobulin G Fc receptor II, OTTHUMP00000032377"
- Cross-references: NCBI: 2212, Ensembl: ENSG00000143226
-
Evidence:
- Pubmed Ids: 20054293,
- HuGE Navigator Score: 0.006
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
TLR1
- Genotator Score: 0.8
- Description: toll-like receptor 1
- Chromosome: 4, Band: 4p14
- Gene Synonyms: CD281, DKFZp547I0610, DKFZp564I0682, KIAA0012, MGC104956, MGC126311, MGC126312, TIL, rsc786
- Other Descriptions: Toll/interleukin-1 receptor-like
- Cross-references: NCBI: 7096, Ensembl: ENSG00000174125
-
Evidence:
- Pubmed Ids: 19456234,
- HuGE Navigator Score: 0.006
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
TIRAP
- Genotator Score: 0.8
- Description: toll-interleukin 1 receptor (TIR) domain containing adaptor protein
- Chromosome: 11, Band: 11q24.2
- Gene Synonyms: FLJ42305, Mal, wyatt
- Other Descriptions: MyD88 adapter-like protein, OTTHUMP00000179130, OTTHUMP00000179132, Toll-interleukin 1 receptor domain-containing adaptor protein, Toll-like receptor adaptor protein, adapter protein wyatt
- Cross-references: NCBI: 114609, Ensembl:
-
Evidence:
- Pubmed Ids: 19456234,
- HuGE Navigator Score: 0.006
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
TLR5
- Genotator Score: 0.8
- Description: toll-like receptor 5
- Chromosome: 1, Band: 1q41-q42
- Gene Synonyms: FLJ10052, MGC126430, MGC126431, SLEB1, TIL3
- Other Descriptions: OTTHUMP00000036039, Toll/interleukin-1 receptor-like protein 3
- Cross-references: NCBI: 7100, Ensembl: ENSG00000187554
-
Evidence:
- Pubmed Ids: 19456234,
- HuGE Navigator Score: 0.006
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
MMP1
- Genotator Score: 0.8
- Description: matrix metallopeptidase 1 (interstitial collagenase)
- Chromosome: 11, Band: 11q22.3
- Gene Synonyms: CLG, CLGN
- Other Descriptions: fibroblast collagenase, matrix metalloprotease 1, matrix metalloproteinase 1
- Cross-references: NCBI: 4312, Ensembl: ENSG00000196611
-
Evidence:
- Pubmed Ids: 18028894,
- HuGE Navigator Score: 0.006
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
TLR9
- Genotator Score: 0.8
- Description: toll-like receptor 9
- Chromosome: 3, Band: 3p21.3
- Gene Synonyms: CD289
- Other Descriptions:
- Cross-references: NCBI: 54106, Ensembl: ENSG00000173366
-
Evidence:
- Pubmed Ids: 19456234,
- HuGE Navigator Score: 0.006
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
MYOCD
- Genotator Score: 0.8
- Description: myocardin
- Chromosome: 17, Band: 17p11.2
- Gene Synonyms: MYCD
- Other Descriptions:
- Cross-references: NCBI: 93649, Ensembl: ENSG00000141052
-
Evidence:
- Pubmed Ids: 18028454,
- HuGE Navigator Score: 0.006
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
GATA4
- Genotator Score: 0.8
- Description: GATA binding protein 4
- Chromosome: 8, Band: 8p23.1-p22
- Gene Synonyms: MGC126629
- Other Descriptions: GATA-binding protein 4, OTTHUMP00000116010
- Cross-references: NCBI: 2626, Ensembl: ENSG00000136574
-
Evidence:
- Pubmed Ids: 17643447,
- HuGE Navigator Score: 0.006
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: GeneCards, HuGE Navigator
-
TFB2M
- Genotator Score: 0.8
- Description: "transcription factor B2, mitochondrial"
- Chromosome: 1, Band: 1q44
- Gene Synonyms: FLJ22661, FLJ23182, Hkp1
- Other Descriptions: OTTHUMP00000037974
- Cross-references: NCBI: 64216, Ensembl: ENSG00000162851
-
Evidence:
- Pubmed Ids: 19096125,
- HuGE Navigator Score: 0.006
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
TFB1M
- Genotator Score: 0.8
- Description: "transcription factor B1, mitochondrial"
- Chromosome: 6, Band: 6q25.1-q25.3
- Gene Synonyms: CGI-75, CGI75, mtTFB, mtTFB1
- Other Descriptions: "OTTHUMP00000017473, S-adenosylmethionine-6-N', N'-adenosyl(rRNA) dimethyltransferase 1, homolog of yeast mitochondrial transcription factor B, mitochondrial 12S rRNA dimethylase 1"
- Cross-references: NCBI: 51106, Ensembl: ENSG00000029639
-
Evidence:
- Pubmed Ids: 19096125,
- HuGE Navigator Score: 0.006
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
CYP19A1
- Genotator Score: 0.8
- Description: "cytochrome P450, family 19, subfamily A, polypeptide 1"
- Chromosome: 15, Band: 15q21.1
- Gene Synonyms: ARO, ARO1, CPV1, CYAR, CYP19, MGC104309, P-450AROM
- Other Descriptions: "OTTHUMP00000162543, aromatase, cytochrome P450, family 19, cytochrome P450, subfamily XIX (aromatization of androgens), estrogen synthetase, flavoprotein-linked monooxygenase, microsomal monooxygenase"
- Cross-references: NCBI: 1588, Ensembl: ENSG00000137869
-
Evidence:
- Pubmed Ids: 18617186,
- HuGE Navigator Score: 0.006
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
DIO2
- Genotator Score: 0.8
- Description: "deiodinase, iodothyronine, type II"
- Chromosome: 14, Band: 14q24.2-q24.3
- Gene Synonyms: 5DII, D2, SelY, TXDI2
- Other Descriptions: "thyroxine deiodinase, type II, type 2 iodothyronine deiodinase, type-II 5'deiodinase"
- Cross-references: NCBI: 1734, Ensembl: ENSG00000211448
-
Evidence:
- Pubmed Ids: 19684474,
- HuGE Navigator Score: 0.006
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
ALDH2
- Genotator Score: 0.8
- Description: aldehyde dehydrogenase 2 family (mitochondrial)
- Chromosome: 12, Band: 12q24.2
- Gene Synonyms: ALDH-E2, ALDHI, ALDM, MGC1806
- Other Descriptions: ALDH class 2, acetaldehyde dehydrogenase 2, liver mitochondrial ALDH, mitochondrial aldehyde dehydrogenase 2, nucleus-encoded mitochondrial aldehyde dehydrogenase 2
- Cross-references: NCBI: 217, Ensembl: ENSG00000111275
-
Evidence:
- Pubmed Ids: 11696658,
- HuGE Navigator Score: 0.006
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
SLN
- Genotator Score: 0.8
- Description: sarcolipin
- Chromosome: 11, Band: 11q22-q23
- Gene Synonyms: MGC12301, MGC125854, MGC125855
- Other Descriptions:
- Cross-references: NCBI: 6588, Ensembl: ENSG00000170290
-
Evidence:
- Pubmed Ids: 17010328,
- HuGE Navigator Score: 0.006
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
ITGB1BP2
- Genotator Score: 0.8
- Description: integrin beta 1 binding protein (melusin) 2
- Chromosome: X, Band: Xq12-q13.1
- Gene Synonyms: CHORDC3, ITGB1BP, MELUSIN, MGC119214, MSTP015
- Other Descriptions: OTTHUMP00000023501, integrin beta 1 binding protein 2
- Cross-references: NCBI: 26548, Ensembl: ENSG00000147166
-
Evidence:
- Pubmed Ids: 20017903,
- HuGE Navigator Score: 0.006
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: GeneCards, HuGE Navigator
-
COMT
- Genotator Score: 0.8
- Description: catechol-O-methyltransferase
- Chromosome: 22, Band: 22q11.21-q11.23|22q11.21
- Gene Synonyms:
- Other Descriptions:
- Cross-references: NCBI: 1312, Ensembl: ENSG00000093010
-
Evidence:
- Pubmed Ids: 16582043,
- HuGE Navigator Score: 0.006
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
MTHFR
- Genotator Score: 0.8
- Description: "5,10-methylenetetrahydrofolate reductase (NADPH)"
- Chromosome: 1, Band: 1p36.3
- Gene Synonyms:
- Other Descriptions: "5,10-methylenetetrahydrofolate reductase, OTTHUMP00000002367, OTTHUMP00000002368, methylenetetrahydrofolate reductase intermediate form"
- Cross-references: NCBI: 4524, Ensembl: ENSG00000177000
-
Evidence:
- Pubmed Ids: 18469551,
- HuGE Navigator Score: 0.006
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
HRC
- Genotator Score: 0.8
- Description: histidine rich calcium binding protein
- Chromosome: 19, Band: 19q13.3
- Gene Synonyms: MGC133236
- Other Descriptions:
- Cross-references: NCBI: 3270, Ensembl: ENSG00000130528
-
Evidence:
- Pubmed Ids: 18617481,
- HuGE Navigator Score: 0.006
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: GeneCards, HuGE Navigator
-
AMPD1
- Genotator Score: 0.8
- Description: adenosine monophosphate deaminase 1 (isoform M)
- Chromosome: 1, Band: 1p13
- Gene Synonyms: MAD, MADA
- Other Descriptions: OTTHUMP00000013665, OTTHUMP00000059283, adenosine monophosphate deaminase-1 (muscle)
- Cross-references: NCBI: 270, Ensembl: ENSG00000116748
-
Evidence:
- Pubmed Ids: 15135700,
- HuGE Navigator Score: 0.006
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
KCNE1L
- Genotator Score: 0.6
- Description: KCNE1-like
- Chromosome: X, Band: Xq22.3
- Gene Synonyms: KCNE5
- Other Descriptions: "AMMECR2 protein, OTTHUMP00000023845, cardiac voltage-gated potassium channel accessory subunit 5, potassium voltage-gated channel subfamily E member 1-like protein, potassium voltage-gated channel, Isk-related family, member 1-like, voltage-gated potassium channel accessory subunit 5"
- Cross-references: NCBI: 23630, Ensembl: ENSG00000176076
-
Evidence:
- Pubmed Ids:
- HuGE Navigator Score: 0.006
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
PDP2
- Genotator Score: 0.6
- Description: pyruvate dehyrogenase phosphatase catalytic subunit 2
- Chromosome: 16, Band: 16q22.1
- Gene Synonyms: KIAA1348, PPM2C2
- Other Descriptions: "OTTHUMP00000174806, protein phosphatase 2C, magnesium-dependent, catalytic subunit 2, pyruvate dehydrogenase phosphatase isoenzyme 2, pyruvate dehydrogenase phosphatase, catalytic subunit 2"
- Cross-references: NCBI: 57546, Ensembl: ENSG00000172840
-
Evidence:
- Pubmed Ids:
- HuGE Navigator Score: 0.006
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
MASP2
- Genotator Score: 0.6
- Description: mannan-binding lectin serine peptidase 2
- Chromosome: 1, Band: 1p36.3-p36.2
- Gene Synonyms: MAP19, MASP-2, sMAP
- Other Descriptions: MBL-associated plasma protein of 19 kD, MBL-associated serine protease 2, OTTHUMP00000002174, OTTHUMP00000002175, mannan-binding lectin serine protease 2, small MBL-associated protein
- Cross-references: NCBI: 10747, Ensembl: ENSG00000009724
-
Evidence:
- Pubmed Ids:
- HuGE Navigator Score: 0.006
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
AGTR2
- Genotator Score: 0.6
- Description: "angiotensin II receptor, type 2"
- Chromosome: X, Band: Xq22-q23
- Gene Synonyms: AT2, ATGR2, MRX88
- Other Descriptions: OTTHUMP00000023878, angiotensin receptor 2
- Cross-references: NCBI: 186, Ensembl: ENSG00000180772
-
Evidence:
- Pubmed Ids:
- HuGE Navigator Score: 0.006
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: GeneCards, HuGE Navigator
-
BRAP
- Genotator Score: 0.6
- Description: BRCA1 associated protein
- Chromosome: 12, Band: 12q24
- Gene Synonyms: BRAP2, IMP, RNF52
- Other Descriptions: galectin-2-binding protein, impedes mitogenic signal propagation
- Cross-references: NCBI: 8315, Ensembl:
-
Evidence:
- Pubmed Ids:
- HuGE Navigator Score: 0.006
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
RETN
- Genotator Score: 0.6
- Description: resistin
- Chromosome: 19, Band: 19p13.2
- Gene Synonyms: ADSF, FIZZ3, MGC126603, MGC126609, RETN1, RSTN, XCP1
- Other Descriptions: C/EBP-epsilon regulated myeloid-specific secreted cysteine-rich protein precursor 1, found in inflammatory zone 3
- Cross-references: NCBI: 56729, Ensembl: ENSG00000104918
-
Evidence:
- Pubmed Ids:
- HuGE Navigator Score: 0.006
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
MAP2K2
- Genotator Score: 0.6
- Description: mitogen-activated protein kinase kinase 2
- Chromosome: 19, Band: 19p13.3
- Gene Synonyms: FLJ26075, MAPKK2, MEK2, MKK2, PRKMK2
- Other Descriptions: "ERK activator kinase 2, MAP kinase kinase 2, MAPK/ERK kinase 2, dual specificity mitogen-activated protein kinase kinase 2, mitogen-activated protein kinase kinase 2, p45"
- Cross-references: NCBI: 5605, Ensembl: ENSG00000126934
-
Evidence:
- Pubmed Ids:
- HuGE Navigator Score: 0.006
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
KLF10
- Genotator Score: 0.6
- Description: Kruppel-like factor 10
- Chromosome: 8, Band: 8q22.2
- Gene Synonyms: EGRA, TIEG, TIEG1
- Other Descriptions: TGFB inducible early growth response
- Cross-references: NCBI: 7071, Ensembl: ENSG00000155090
-
Evidence:
- Pubmed Ids:
- HuGE Navigator Score: 0.006
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
COX1
- Genotator Score: 0.6
- Description: mitochondrially encoded cytochrome c oxidase I
- Chromosome: MT, Band:
- Gene Synonyms: COI, MTCO1
- Other Descriptions:
- Cross-references: NCBI: 4512, Ensembl:
-
Evidence:
- Pubmed Ids:
- HuGE Navigator Score: 0.006
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
IL4R
- Genotator Score: 0.6
- Description: interleukin 4 receptor
- Chromosome: 16, Band: 16p12.1-p11.2
- Gene Synonyms: CD124, IL4RA
- Other Descriptions: OTTHUMP00000122506, interleukin 4 receptor alpha chain, interleukin-4 receptor alpha chain
- Cross-references: NCBI: 3566, Ensembl: ENSG00000077238
-
Evidence:
- Pubmed Ids:
- HuGE Navigator Score: 0.006
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
KCNE3
- Genotator Score: 0.6
- Description: "potassium voltage-gated channel, Isk-related family, member 3"
- Chromosome: 11, Band: 11q13-q14
- Gene Synonyms: DKFZp781H21101, HOKPP, MGC102685, MGC129924, MiRP2
- Other Descriptions: cardiac voltage-gated potassium channel accessory subunit, minK-related peptide 2, minimum potassium ion channel-related peptide 2, potassium voltage-gated channel subfamily E member 3, voltage-gated K+ channel subunit MIRP2
- Cross-references: NCBI: 10008, Ensembl: ENSG00000175538
-
Evidence:
- Pubmed Ids:
- HuGE Navigator Score: 0.006
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
KCNE4
- Genotator Score: 0.6
- Description: "potassium voltage-gated channel, Isk-related family, member 4"
- Chromosome: 2, Band: 2q36.3
- Gene Synonyms: MGC20353, MIRP3
- Other Descriptions: MINK-related peptide 3, cardiac voltage-gated potassium channel accessory subunit 4, minimum potassium ion channel-related peptide 3, potassium voltage-gated channel subfamily E member 4
- Cross-references: NCBI: 23704, Ensembl: ENSG00000152049
-
Evidence:
- Pubmed Ids:
- HuGE Navigator Score: 0.006
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
IL8
- Genotator Score: 0.6
- Description: interleukin 8
- Chromosome: 4, Band: 4q13-q21
- Gene Synonyms: CXCL8, GCP-1, GCP1, LECT, LUCT, LYNAP, MDNCF, MONAP, NAF, NAP-1, NAP1
- Other Descriptions: "T cell chemotactic factor, beta-thromboglobulin-like protein, chemokine (C-X-C motif) ligand 8, emoctakin, granulocyte chemotactic protein 1, lymphocyte-derived neutrophil-activating factor, monocyte-derived neutrophil chemotactic factor, neutrophil-activating peptide 1, small inducible cytokine subfamily B, member 8"
- Cross-references: NCBI: 3576, Ensembl: ENSG00000169429
-
Evidence:
- Pubmed Ids:
- HuGE Navigator Score: 0.006
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
NRAS
- Genotator Score: 0.6
- Description: neuroblastoma RAS viral (v-ras) oncogene homolog
- Chromosome: 1, Band: 1p13.2
- Gene Synonyms: ALPS4, N-ras, NRAS1
- Other Descriptions: N-ras protein part 4, OTTHUMP00000013879, v-ras neuroblastoma RAS viral oncogene homolog
- Cross-references: NCBI: 4893, Ensembl: ENSG00000213281
-
Evidence:
- Pubmed Ids:
- HuGE Navigator Score: 0.006
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
OGG1
- Genotator Score: 0.6
- Description: 8-oxoguanine DNA glycosylase
- Chromosome: 3, Band: 3p26.2
- Gene Synonyms: HMMH, HOGG1, MUTM, OGH1
- Other Descriptions: 8-hydroxyguanine DNA glycosylase, 8-oxoguanine DNA-glycosylase 1, AP lyase, DNA-apurinic or apyrimidinic site lyase, OTTHUMP00000122619
- Cross-references: NCBI: 4968, Ensembl: ENSG00000114026
-
Evidence:
- Pubmed Ids:
- HuGE Navigator Score: 0.006
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
HTR2A
- Genotator Score: 0.6
- Description: 5-hydroxytryptamine (serotonin) receptor 2A
- Chromosome: 13, Band: 13q14-q21
- Gene Synonyms: 5-HT2A, HTR2
- Other Descriptions: 5-HT2 receptor, OTTHUMP00000018378
- Cross-references: NCBI: 3356, Ensembl: ENSG00000102468
-
Evidence:
- Pubmed Ids:
- HuGE Navigator Score: 0.006
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
NUDT1
- Genotator Score: 0.6
- Description: nudix (nucleoside diphosphate linked moiety X)-type motif 1
- Chromosome: 7, Band: 7p22
- Gene Synonyms: MTH1
- Other Descriptions: "7,8-dihydro-8-oxoguanine triphosphatase, 8-oxo-7,8-dihydrodeoxyguanosine triphosphatase, 8-oxo-7,8-dihydroguanosine triphosphatase, 8-oxo-dGTPase, OTTHUMP00000024690, OTTHUMP00000115537, OTTHUMP00000115538, OTTHUMP00000115539, OTTHUMP00000115540, mutT human homolog 1, nucleoside diphosphate-linked moiety X-type motif 1, nudix motif 1, nudix-type motif 1"
- Cross-references: NCBI: 4521, Ensembl: ENSG00000106268
-
Evidence:
- Pubmed Ids:
- HuGE Navigator Score: 0.006
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
ADORA2A
- Genotator Score: 0.6
- Description: adenosine A2a receptor
- Chromosome: 22, Band: 22q11.23
- Gene Synonyms: ADORA2, RDC8, hA2aR
- Other Descriptions: adenosine A2 receptor, adenosine receptor subtype A2a
- Cross-references: NCBI: 135, Ensembl: ENSG00000128271
-
Evidence:
- Pubmed Ids:
- HuGE Navigator Score: 0.006
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
CCL5
- Genotator Score: 0.6
- Description: chemokine (C-C motif) ligand 5
- Chromosome: 17, Band: 17q11.2-q12
- Gene Synonyms: D17S136E, MGC17164, RANTES, SCYA5, SISd, TCP228
- Other Descriptions: "SIS-delta, T-cell specific RANTES protein, T-cell specific protein p288, beta-chemokine RANTES, regulated upon activation, normally T-expressed, and presumably secreted, small inducible cytokine A5, small inducible cytokine A5 (RANTES), small inducible cytokine subfamily A (Cys-Cys), member 5"
- Cross-references: NCBI: 6352, Ensembl: ENSG00000161570
-
Evidence:
- Pubmed Ids:
- HuGE Navigator Score: 0.006
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
SPRY1
- Genotator Score: 0.6
- Description: "sprouty homolog 1, antagonist of FGF signaling (Drosophila)"
- Chromosome: 4, Band: 4q28.1
- Gene Synonyms: hSPRY1
- Other Descriptions: "sprouty homolog 1, antagonist of FGF signaling, sprouty, Drosophila, homolog of, 1 (antagonist of FGF signaling)"
- Cross-references: NCBI: 10252, Ensembl: ENSG00000164056
-
Evidence:
- Pubmed Ids:
- HuGE Navigator Score: 0.006
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
ND3
- Genotator Score: 0.6
- Description: mitochondrially encoded NADH dehydrogenase 3
- Chromosome: MT, Band:
- Gene Synonyms: MTND3
- Other Descriptions: NADH dehydrogenase subunit 3
- Cross-references: NCBI: 4537, Ensembl:
-
Evidence:
- Pubmed Ids:
- HuGE Navigator Score: 0.006
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
FRMD4B
- Genotator Score: 0.6
- Description: FERM domain containing 4B
- Chromosome: 3, Band: 3p14.1
- Gene Synonyms: 6030440G05Rik, GRSP1, KIAA1013
- Other Descriptions: GRP1-binding protein GRSP1
- Cross-references: NCBI: 23150, Ensembl:
-
Evidence:
- Pubmed Ids:
- HuGE Navigator Score: 0.006
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
CBL
- Genotator Score: 0.6
- Description: Cas-Br-M (murine) ecotropic retroviral transforming sequence
- Chromosome: 11, Band: 11q23.3
- Gene Synonyms: C-CBL, CBL2, RNF55
- Other Descriptions: oncogene CBL2
- Cross-references: NCBI: 867, Ensembl: ENSG00000110395
-
Evidence:
- Pubmed Ids:
- HuGE Navigator Score: 0.006
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
STAT5B
- Genotator Score: 0.6
- Description: signal transducer and activator of transcription 5B
- Chromosome: 17, Band: 17q11.2
- Gene Synonyms: STAT5
- Other Descriptions: transcription factor STAT5B
- Cross-references: NCBI: 6777, Ensembl: ENSG00000173757
-
Evidence:
- Pubmed Ids:
- HuGE Navigator Score: 0.006
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
MIR499
- Genotator Score: 0.6
- Description: microRNA 499
- Chromosome: 20, Band: 20q11.22
- Gene Synonyms: MIRN499, hsa-mir-499
- Other Descriptions:
- Cross-references: NCBI: 574501, Ensembl:
-
Evidence:
- Pubmed Ids:
- HuGE Navigator Score: 0.006
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
CX3CR1
- Genotator Score: 0.6
- Description: chemokine (C-X3-C motif) receptor 1
- Chromosome: 3, Band: 3p21|3p21.3
- Gene Synonyms: CCRL1, CMKBRL1, CMKDR1, GPR13, GPRV28, V28
- Other Descriptions: G protein-coupled receptor 13, chemokine (C-C) receptor-like 1, chemokine (C-X3-C) receptor 1
- Cross-references: NCBI: 1524, Ensembl: ENSG00000168329
-
Evidence:
- Pubmed Ids:
- HuGE Navigator Score: 0.006
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
MYH7B
- Genotator Score: 0.6
- Description: "myosin, heavy chain 7B, cardiac muscle, beta"
- Chromosome: 20, Band: 20q11.22
- Gene Synonyms: MGC96928, MGC96940, MHC14, MYH14
- Other Descriptions: "OTTHUMP00000030720, OTTHUMP00000039030, U937-associated antigen, antigen MLAA-21, myosin heavy chain-like, myosin, heavy polypeptide 7B, cardiac muscle, beta"
- Cross-references: NCBI: 57644, Ensembl: ENSG00000078814
-
Evidence:
- Pubmed Ids:
- HuGE Navigator Score: 0.006
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
NKX2-5
- Genotator Score: 0.6
- Description: "NK2 transcription factor related, locus 5 (Drosophila)"
- Chromosome: 5, Band: 5q34
- Gene Synonyms: CHNG5, CSX, CSX1, NKX2.5, NKX2E, NKX4-1
- Other Descriptions: "NK2 transcription factor homolog E, NK2 transcription factor related, locus 5, cardiac-specific homeo box, tinman paralog"
- Cross-references: NCBI: 1482, Ensembl: ENSG00000183072
-
Evidence:
- Pubmed Ids:
- HuGE Navigator Score: 0.006
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
PPARA
- Genotator Score: 0.6
- Description: peroxisome proliferator-activated receptor alpha
- Chromosome: 22, Band: 22q12-q13.1|22q13.31
- Gene Synonyms: MGC2237, MGC2452, NR1C1, PPAR, hPPAR
- Other Descriptions: "OTTHUMP00000028713, OTTHUMP00000042872, peroxisome proliferative activated receptor, alpha"
- Cross-references: NCBI: 5465, Ensembl: ENSG00000186951
-
Evidence:
- Pubmed Ids:
- HuGE Navigator Score: 0.006
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
CBR3
- Genotator Score: 0.6
- Description: carbonyl reductase 3
- Chromosome: 21, Band: 21q22.2
- Gene Synonyms: SDR21C2, hCBR3
- Other Descriptions: "NADPH-dependent carbonyl reductase 3, carbonyl reductase (NADPH) 3, short chain dehydrogenase/reductase family 21C, member 2"
- Cross-references: NCBI: 874, Ensembl: ENSG00000159231
-
Evidence:
- Pubmed Ids:
- HuGE Navigator Score: 0.006
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
PSEN2
- Genotator Score: 0.6
- Description: presenilin 2 (Alzheimer disease 4)
- Chromosome: 1, Band: 1q31-q42
- Gene Synonyms: AD3L, AD4, PS2, STM2
- Other Descriptions: Alzheimer's disease 3-like, OTTHUMP00000035671, presenilin 2
- Cross-references: NCBI: 5664, Ensembl: ENSG00000143801
-
Evidence:
- Pubmed Ids:
- HuGE Navigator Score: 0.006
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: OMIM, HuGE Navigator
-
MIF
- Genotator Score: 0.6
- Description: macrophage migration inhibitory factor (glycosylation-inhibiting factor)
- Chromosome: 22, Band: 22q11.23
- Gene Synonyms: GIF, GLIF, MMIF
- Other Descriptions: macrophage migration inhibitory factor, phenylpyruvate tautomerase
- Cross-references: NCBI: 4282, Ensembl: ENSG00000099964
-
Evidence:
- Pubmed Ids:
- HuGE Navigator Score: 0.006
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
CBR1
- Genotator Score: 0.6
- Description: carbonyl reductase 1
- Chromosome: 21, Band: 21q22.13
- Gene Synonyms: CBR, SDR21C1, hCBR1
- Other Descriptions: "carbonyl reductase (NADPH) 1, prostaglandin 9-ketoreductase, prostaglandin-E(2) 9-reductase, short chain dehydrogenase/reductase family 21C, member 1"
- Cross-references: NCBI: 873, Ensembl: ENSG00000159228
-
Evidence:
- Pubmed Ids:
- HuGE Navigator Score: 0.006
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
MIR146A
- Genotator Score: 0.6
- Description: microRNA 146a
- Chromosome: 5, Band: 5q33.3
- Gene Synonyms: MIRN146, MIRN146A, miR-146a, miRNA146A
- Other Descriptions:
- Cross-references: NCBI: 406938, Ensembl:
-
Evidence:
- Pubmed Ids:
- HuGE Navigator Score: 0.006
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
STAT3
- Genotator Score: 0.6
- Description: signal transducer and activator of transcription 3 (acute-phase response factor)
- Chromosome: 17, Band: 17q21.31
- Gene Synonyms: APRF, FLJ20882, HIES, MGC16063
- Other Descriptions: DNA-binding protein APRF, acute-phase response factor, signal transducer and activator of transcription 3
- Cross-references: NCBI: 6774, Ensembl: ENSG00000168610
-
Evidence:
- Pubmed Ids:
- HuGE Navigator Score: 0.006
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
TLR3
- Genotator Score: 0.6
- Description: toll-like receptor 3
- Chromosome: 4, Band: 4q35
- Gene Synonyms: CD283
- Other Descriptions:
- Cross-references: NCBI: 7098, Ensembl: ENSG00000164342
-
Evidence:
- Pubmed Ids:
- HuGE Navigator Score: 0.006
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
SPRED1
- Genotator Score: 0.6
- Description: "sprouty-related, EVH1 domain containing 1"
- Chromosome: 15, Band: 15q14
- Gene Synonyms: FLJ33903, NFLS
- Other Descriptions: EVH1/Sprouty domain containing protein, sprouty-related protein 1 with EVH-1 domain, suppressor of Ras/MAPK activation
- Cross-references: NCBI: 161742, Ensembl: ENSG00000166068
-
Evidence:
- Pubmed Ids:
- HuGE Navigator Score: 0.006
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
TRIM63
- Genotator Score: 0.6
- Description: tripartite motif-containing 63
- Chromosome: 1, Band: 1p34-p33
- Gene Synonyms: FLJ32380, IRF, MURF1, MURF2, RNF28, SMRZ
- Other Descriptions: OTTHUMP00000008701, iris ring finger protein, muscle specific ring finger protein 1, muscle specific ring finger protein 2, ring finger protein 28, striated muscle RING zinc finger protein
- Cross-references: NCBI: 84676, Ensembl: ENSG00000158022
-
Evidence:
- Pubmed Ids:
- HuGE Navigator Score: 0.006
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
MIR196A2
- Genotator Score: 0.6
- Description: microRNA 196a-2
- Chromosome: 12, Band: 12q13.13
- Gene Synonyms: MIRN196-2, MIRN196A2
- Other Descriptions:
- Cross-references: NCBI: 406973, Ensembl:
-
Evidence:
- Pubmed Ids:
- HuGE Navigator Score: 0.006
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
PTPN1
- Genotator Score: 0.6
- Description: "protein tyrosine phosphatase, non-receptor type 1"
- Chromosome: 20, Band: 20q13.1-q13.2
- Gene Synonyms: PTP1B
- Other Descriptions: "OTTHUMP00000031266, protein tyrosine phosphatase 1B, protein tyrosine phosphatase, placental"
- Cross-references: NCBI: 5770, Ensembl: ENSG00000196396
-
Evidence:
- Pubmed Ids:
- HuGE Navigator Score: 0.006
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
BOP
- Genotator Score: 0.6
- Description:
- Chromosome: 6, Band: 6q16.3-q22.1
- Gene Synonyms:
- Other Descriptions:
- Cross-references: NCBI: 100294715, Ensembl:
-
Evidence:
- Pubmed Ids:
- HuGE Navigator Score: 0.006
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
MURC
- Genotator Score: 0.6
- Description: muscle-related coiled-coil protein
- Chromosome: 9, Band: 9q31.1
- Gene Synonyms:
- Other Descriptions: muscle-restricted coiled-coil protein
- Cross-references: NCBI: 347273, Ensembl: ENSG00000170681
-
Evidence:
- Pubmed Ids:
- HuGE Navigator Score: 0.006
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
TNFRSF1B
- Genotator Score: 0.6
- Description: "tumor necrosis factor receptor superfamily, member 1B"
- Chromosome: 1, Band: 1p36.3-p36.2
- Gene Synonyms: CD120b, TBPII, TNF-R-II, TNF-R75, TNFBR, TNFR1B, TNFR2, TNFR80, p75, p75TNFR
- Other Descriptions: OTTHUMP00000001784, p75 TNF receptor, soluble TNFR1B variant 1, tumor necrosis factor beta receptor, tumor necrosis factor binding protein 2, tumor necrosis factor receptor 2
- Cross-references: NCBI: 7133, Ensembl: ENSG00000028137
-
Evidence:
- Pubmed Ids:
- HuGE Navigator Score: 0.006
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
ADRA1D
- Genotator Score: 0.4
- Description: "adrenergic, alpha-1D-, receptor"
- Chromosome: 20, Band: 20p13
- Gene Synonyms: ADRA1, ADRA1A, ADRA1R, ALPHA1, DAR, dJ779E11.2
- Other Descriptions: "OTTHUMP00000030160, adrenergic, alpha -1D-, receptor, adrenergic, alpha-1A-, receptor, alpha-1D-adrenergic receptor"
- Cross-references: NCBI: 146, Ensembl: ENSG00000171873
-
Evidence:
- Pubmed Ids: 17404580,
- HuGE Navigator Score: 0.002
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
TRNV
- Genotator Score: 0.4
- Description: mitochondrially encoded tRNA valine
- Chromosome: MT, Band:
- Gene Synonyms: MTTV
- Other Descriptions:
- Cross-references: NCBI: 4577, Ensembl:
-
Evidence:
- Pubmed Ids: 15320572,
- HuGE Navigator Score: 0.002
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
MEF2C
- Genotator Score: 0.2
- Description: myocyte enhancer factor 2C
- Chromosome: 5, Band: 5q14
- Gene Synonyms:
- Other Descriptions: "MADS box transcription enhancer factor 2, polypeptide C (myocyte enhancer factor 2C)"
- Cross-references: NCBI: 4208, Ensembl:
-
Evidence:
- Pubmed Ids:
- HuGE Navigator Score: 0.002
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
SURF1
- Genotator Score: 0.0
- Description: surfeit 1
- Chromosome: 9, Band: 9q34.2
- Gene Synonyms:
- Other Descriptions: OTTHUMP00000022473, surfeit locus protein 1
- Cross-references: NCBI: 6834, Ensembl: ENSG00000148290
-
Evidence:
- Pubmed Ids:
- HuGE Navigator Score: None
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: WikiGenes
-
AHCY
- Genotator Score: 0.0
- Description: adenosylhomocysteinase
- Chromosome: 20, Band: 20cen-q13.1
- Gene Synonyms: SAHH
- Other Descriptions: OTTHUMP00000030684, S-adenosylhomocysteine hydrolase
- Cross-references: NCBI: 191, Ensembl: ENSG00000101444
-
Evidence:
- Pubmed Ids:
- HuGE Navigator Score: None
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: GenAtlas
-
HADHA
- Genotator Score: 0.0
- Description: "hydroxyacyl-Coenzyme A dehydrogenase/3-ketoacyl-Coenzyme A thiolase/enoyl-Coenzyme A hydratase (trifunctional protein), alpha subunit"
- Chromosome: 2, Band: 2p23
- Gene Synonyms: ECHA, GBP, HADH, LCHAD, MGC1728, MTPA, TP-ALPHA
- Other Descriptions: "3-ketoacyl-Coenzyme A (CoA) thiolase, alpha subunit, 3-oxoacyl-CoA thiolase, 78 kDa gastrin-binding protein, OTTHUMP00000122457, mitochondrial long-chain 2-enoyl-Coenzyme A (CoA) hydratase, alpha subunit, mitochondrial long-chain L-3-hydroxyacyl-Coenzyme A (CoA) dehydrogenase, alpha subunit, mitochondrial trifunctional enzyme, alpha subunit, mitochondrial trifunctional protein, alpha subunit"
- Cross-references: NCBI: 3030, Ensembl: ENSG00000084754
-
Evidence:
- Pubmed Ids:
- HuGE Navigator Score: None
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: WikiGenes
-
HLA-DRB4
- Genotator Score: 0.0
- Description: "major histocompatibility complex, class II, DR beta 4"
- Chromosome: 6, Band: 6p21.3
- Gene Synonyms: DRB4, HLA-DR4B
- Other Descriptions: "DRB1 transplantation antigen, MHC HLA DR-beta chain, MHC class II HLA-DR-beta-7, MHC class II antigen HLA-DR-beta, MHC class II antigen HLA-DRB1, MHC class2 antigen, class II histocompatibility antigen HLA DR alpha, beta1-0307, human leucocyte antigen DRB4, leucocyte antigen DRB1, leukocyte antigen, major histocompatibility complex, class II, DR beta 1"
- Cross-references: NCBI: 3126, Ensembl:
-
Evidence:
- Pubmed Ids:
- HuGE Navigator Score: None
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: WikiGenes
-
IGKC
- Genotator Score: 0.0
- Description: immunoglobulin kappa constant
- Chromosome: 2, Band: 2p12
- Gene Synonyms: HCAK1, Km, MGC111575, MGC62011, MGC72072, MGC88770, MGC88771, MGC88809
- Other Descriptions:
- Cross-references: NCBI: 3514, Ensembl: ENSG00000211592
-
Evidence:
- Pubmed Ids:
- HuGE Navigator Score: None
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: WikiGenes
-
UNC45B
- Genotator Score: 0.0
- Description: unc-45 homolog B (C. elegans)
- Chromosome: 17, Band: 17q12
- Gene Synonyms: CMYA4, FLJ38610, MGC119540, MGC119541, SMUNC45, UNC45
- Other Descriptions: OTTHUMP00000163855, cardiomyopathy associated 4, striated muscle UNC45
- Cross-references: NCBI: 146862, Ensembl: ENSG00000141161
- Evidence:
-
GH1
- Genotator Score: 0.0
- Description: growth hormone 1
- Chromosome: 17, Band: 17q24.2
- Gene Synonyms: GH, GH-N, GHN, IGHD1B, hGH-N
- Other Descriptions: pituitary growth hormone
- Cross-references: NCBI: 2688, Ensembl: ENSG00000189162
-
Evidence:
- Pubmed Ids:
- HuGE Navigator Score: None
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: WikiGenes
-
RGS2
- Genotator Score: 0.0
- Description: "regulator of G-protein signaling 2, 24kDa"
- Chromosome: 1, Band: 1q31
- Gene Synonyms: G0S8
- Other Descriptions: "G0 to G1 switch regulatory 8, 24kD, OTTHUMP00000033592, OTTHUMP00000060765, cell growth-inhibiting protein 31, regulator of G-protein signalling 2, 24kD, regulator of G-protein signalling 2, 24kDa"
- Cross-references: NCBI: 5997, Ensembl: ENSG00000116741
-
Evidence:
- Pubmed Ids:
- HuGE Navigator Score: None
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: WikiGenes
- ZLS
-
MLYCD
- Genotator Score: 0.0
- Description: malonyl-CoA decarboxylase
- Chromosome: 16, Band: 16q24
- Gene Synonyms: MCD, MGC59795
- Other Descriptions: malonyl coenzyme A decarboxylase
- Cross-references: NCBI: 23417, Ensembl: ENSG00000103150
-
Evidence:
- Pubmed Ids:
- HuGE Navigator Score: None
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: WikiGenes
-
C6ORF10
- Genotator Score: 0.0
- Description: chromosome 6 open reading frame 10
- Chromosome: 6, Band: 6p21.3
- Gene Synonyms: TSBP
- Other Descriptions: OTTHUMP00000029143, testis specific basic protein
- Cross-references: NCBI: 10665, Ensembl: ENSG00000204296
-
Evidence:
- Pubmed Ids:
- HuGE Navigator Score: None
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
BSCL2
- Genotator Score: 0.0
- Description: Bernardinelli-Seip congenital lipodystrophy 2 (seipin)
- Chromosome: 11, Band: 11q12-q13.5
- Gene Synonyms: GNG3LG, HMN5, MGC4694, SPG17
- Other Descriptions: seipin
- Cross-references: NCBI: 26580, Ensembl: ENSG00000168000
-
Evidence:
- Pubmed Ids:
- HuGE Navigator Score: None
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: WikiGenes
-
CMD1F
- Genotator Score: 0.0
- Description: "cardiomyopathy, dilated 1F (autosomal dominant)"
- Chromosome: 6, Band: 6q23
- Gene Synonyms: CDCD3, LGMD1E
- Other Descriptions:
- Cross-references: NCBI: 1222, Ensembl:
- Evidence:
-
CMD1C
- Genotator Score: 0.0
- Description: "cardiomyopathy, dilated 1C (autosomal dominant)"
- Chromosome: 10, Band: 10q21-q23
- Gene Synonyms: CMPD3
- Other Descriptions:
- Cross-references: NCBI: 1219, Ensembl:
- Evidence:
-
CMD1B
- Genotator Score: 0.0
- Description: "cardiomyopathy, dilated 1B (autosomal dominant)"
- Chromosome: 9, Band: 9q13-q22
- Gene Synonyms: CMPD1, FDC
- Other Descriptions:
- Cross-references: NCBI: 1218, Ensembl:
- Evidence:
-
CMD1K
- Genotator Score: 0.0
- Description: "cardiomyopathy, dilated 1K (autosomal dominant)"
- Chromosome: 6, Band: 6q12-q16
- Gene Synonyms:
- Other Descriptions:
- Cross-references: NCBI: 65014, Ensembl:
- Evidence:
-
XYLT1
- Genotator Score: 0.0
- Description: xylosyltransferase I
- Chromosome: 16, Band: 16p12.3
- Gene Synonyms: XT-I, XT1
- Other Descriptions: O-xylosyltransferase 1, UDP-D-xylose:proteoglycan core protein beta-D-xylosyltransferase 1
- Cross-references: NCBI: 64131, Ensembl: ENSG00000103489
-
Evidence:
- Pubmed Ids:
- HuGE Navigator Score: None
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: WikiGenes
-
CMD1H
- Genotator Score: 0.0
- Description: "cardiomyopathy, dilated 1H (autosomal dominant)"
- Chromosome: 2, Band: 2q14-q22
- Gene Synonyms:
- Other Descriptions:
- Cross-references: NCBI: 23459, Ensembl:
- Evidence:
-
SPIC
- Genotator Score: 0.0
- Description: Spi-C transcription factor (Spi-1/PU.1 related)
- Chromosome: 12, Band: 12q23.2
- Gene Synonyms: MGC40611, SPI-C
- Other Descriptions:
- Cross-references: NCBI: 121599, Ensembl: ENSG00000166211
- Evidence:
-
CMD1Q
- Genotator Score: 0.0
- Description: "cardiomyopathy, dilated 1Q (autosomal dominant)"
- Chromosome: 7, Band: 7q22.3-q31.1
- Gene Synonyms:
- Other Descriptions:
- Cross-references: NCBI: 664728, Ensembl:
- Evidence:
-
MAGEH1
- Genotator Score: 0.0
- Description: "melanoma antigen family H, 1"
- Chromosome: X, Band: Xp11.21
- Gene Synonyms: APR-1, APR1, MAGEH
- Other Descriptions: "MAGE-H1 antigen, melanoma antigen, family H, 1 protein, melanoma-associated antigen H1, restin"
- Cross-references: NCBI: 28986, Ensembl: ENSG00000187601
-
Evidence:
- Pubmed Ids:
- HuGE Navigator Score: None
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: WikiGenes
- ARVD7
-
ACTA1
- Genotator Score: 0.0
- Description: "actin, alpha 1, skeletal muscle"
- Chromosome: 1, Band: 1q42.13
- Gene Synonyms: ACTA, ASMA, CFTD, CFTD1, CFTDM, MPFD, NEM1, NEM2, NEM3
- Other Descriptions: OTTHUMP00000036123, alpha skeletal muscle actin
- Cross-references: NCBI: 58, Ensembl: ENSG00000143632
- Evidence:
-
AIFM1
- Genotator Score: 0.0
- Description: "apoptosis-inducing factor, mitochondrion-associated, 1"
- Chromosome: X, Band: Xq25-q26
- Gene Synonyms: AIF, MGC111425, PDCD8
- Other Descriptions: OTTHUMP00000024007, OTTHUMP00000024008, OTTHUMP00000024009, programmed cell death 8, programmed cell death 8 (apoptosis-inducing factor), striatal apoptosis-inducing factor
- Cross-references: NCBI: 9131, Ensembl: ENSG00000156709
-
Evidence:
- Pubmed Ids:
- HuGE Navigator Score: None
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: WikiGenes
- PAND1
- ARVD3
-
CMD2A
- Genotator Score: 0.0
- Description: "cardiomyopathy, dilated 2A (autosomal recessive)"
- Chromosome: , Band:
- Gene Synonyms:
- Other Descriptions:
- Cross-references: NCBI: 1224, Ensembl:
- Evidence:
-
ARVD4
- Genotator Score: 0.0
- Description: arrhythmogenic right ventricular dysplasia 4
- Chromosome: 2, Band: 2q32.1-q32.3
- Gene Synonyms:
- Other Descriptions:
- Cross-references: NCBI: 425, Ensembl:
- Evidence:
- ARVD6
- ASD1
-
PFDN4
- Genotator Score: 0.0
- Description: prefoldin subunit 4
- Chromosome: 20, Band: 20q13.2
- Gene Synonyms: C1, PFD4
- Other Descriptions: OTTHUMP00000031316, prefoldin 4
- Cross-references: NCBI: 5203, Ensembl: ENSG00000101132
-
Evidence:
- Pubmed Ids:
- HuGE Navigator Score: None
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: WikiGenes
-
CYP2T2P
- Genotator Score: 0.0
- Description: "cytochrome P450, family 2, subfamily T, polypeptide 2 pseudogene"
- Chromosome: 19, Band: 19q13.2
- Gene Synonyms:
- Other Descriptions:
- Cross-references: NCBI: 171523, Ensembl:
-
Evidence:
- Pubmed Ids:
- HuGE Navigator Score: None
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: WikiGenes
-
MT1B
- Genotator Score: 0.0
- Description: metallothionein 1B
- Chromosome: 16, Band: 16q13
- Gene Synonyms: MT1, MT1Q, MTP
- Other Descriptions: metallothionein 1B (functional), metallothionein 1Q
- Cross-references: NCBI: 4490, Ensembl: ENSG00000169688
-
Evidence:
- Pubmed Ids:
- HuGE Navigator Score: None
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: WikiGenes
-
FOXD4
- Genotator Score: 0.0
- Description: forkhead box D4
- Chromosome: 9, Band: 9p24.3
- Gene Synonyms: FKHL9, FOXD4A, FREAC5, MGC105106
- Other Descriptions: "OTTHUMP00000022747, forkhead, Drosophila, homolog-like 9, forkhead-like 9, forkhead-related activator 5, forkhead-related transcription factor 5, myeloid factor-alpha"
- Cross-references: NCBI: 2298, Ensembl: ENSG00000170122
-
Evidence:
- Pubmed Ids:
- HuGE Navigator Score: None
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: WikiGenes
-
CYP2T3P
- Genotator Score: 0.0
- Description: "cytochrome P450, family 2, subfamily T, polypeptide 3 pseudogene"
- Chromosome: 19, Band: 19q13.2
- Gene Synonyms:
- Other Descriptions:
- Cross-references: NCBI: 163007, Ensembl:
-
Evidence:
- Pubmed Ids:
- HuGE Navigator Score: None
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: WikiGenes
-
WWTR1
- Genotator Score: 0.0
- Description: WW domain containing transcription regulator 1
- Chromosome: 3, Band: 3q23-q24
- Gene Synonyms: DKFZp586I1419, TAZ
- Other Descriptions: transcriptional co-activator with PDZ-binding motif (TAZ)
- Cross-references: NCBI: 25937, Ensembl: ENSG00000018408
-
Evidence:
- Pubmed Ids:
- HuGE Navigator Score: None
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: WikiGenes
-
DUSP4
- Genotator Score: 0.0
- Description: dual specificity phosphatase 4
- Chromosome: 8, Band: 8p12-p11
- Gene Synonyms: HVH2, MKP-2, MKP2, TYP
- Other Descriptions: MAP kinase phosphatase 2, VH1 homologous phosphatase 2, serine/threonine specific protein phosphatase
- Cross-references: NCBI: 1846, Ensembl: ENSG00000120875
-
Evidence:
- Pubmed Ids:
- HuGE Navigator Score: None
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: WikiGenes
-
IGLV3-9
- Genotator Score: 0.0
- Description: immunoglobulin lambda variable 3-9 (gene/pseudogene)
- Chromosome: 22, Band: 22q11.2
- Gene Synonyms: IGLV39, V2-6
- Other Descriptions:
- Cross-references: NCBI: 28804, Ensembl:
-
Evidence:
- Pubmed Ids:
- HuGE Navigator Score: None
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: GeneCards
-
DPM3
- Genotator Score: 0.0
- Description: dolichyl-phosphate mannosyltransferase polypeptide 3
- Chromosome: 1, Band: 1q22
- Gene Synonyms: MGC125904, MGC125905, MGC34275
- Other Descriptions: OTTHUMP00000033283, OTTHUMP00000033284, OTTHUMP00000033285, dolichol-phosphate mannose synthase subunit 3, dolichyl-phosphate beta-D-mannosyltransferase subunit 3, mannose-P-dolichol synthase subunit 3, prostin 1
- Cross-references: NCBI: 54344, Ensembl: ENSG00000179085
-
Evidence:
- Pubmed Ids:
- HuGE Navigator Score: None
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: GenAtlas
-
BMP10
- Genotator Score: 0.0
- Description: bone morphogenetic protein 10
- Chromosome: 2, Band: 2p14
- Gene Synonyms: MGC126783
- Other Descriptions: OTTHUMP00000159973
- Cross-references: NCBI: 27302, Ensembl: ENSG00000163217
- Evidence:
-
TGFB3
- Genotator Score: 0.0
- Description: "transforming growth factor, beta 3"
- Chromosome: 14, Band: 14q24
- Gene Synonyms: ARVD, FLJ16571, TGF-beta3
- Other Descriptions:
- Cross-references: NCBI: 7043, Ensembl: ENSG00000119699
-
Evidence:
- Pubmed Ids:
- HuGE Navigator Score: None
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: GenAtlas
-
ZIC3
- Genotator Score: 0.0
- Description: "Zic family member 3 (odd-paired homolog, Drosophila)"
- Chromosome: X, Band: Xq26.2
- Gene Synonyms: HTX, HTX1, ZNF203
- Other Descriptions: OTTHUMP00000024142, heterotaxy 1, zinc finger protein of the cerebellum 3
- Cross-references: NCBI: 7547, Ensembl: ENSG00000156925
-
Evidence:
- Pubmed Ids:
- HuGE Navigator Score: None
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: WikiGenes
- RCM2
-
RLN1
- Genotator Score: 0.0
- Description: relaxin 1
- Chromosome: 9, Band: 9p24.1
- Gene Synonyms: H1, RLXH1, bA12D24.3.1, bA12D24.3.2
- Other Descriptions: OTTHUMP00000021026, preprorelaxin H1, prorelaxin, relaxin H1
- Cross-references: NCBI: 6013, Ensembl: ENSG00000107018
-
Evidence:
- Pubmed Ids:
- HuGE Navigator Score: None
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: WikiGenes
-
SLC2A4
- Genotator Score: 0.0
- Description: "solute carrier family 2 (facilitated glucose transporter), member 4"
- Chromosome: 17, Band: 17p13
- Gene Synonyms: GLUT4
- Other Descriptions: glucose transporter 4, insulin-responsive glucose transporter type 4
- Cross-references: NCBI: 6517, Ensembl: ENSG00000181856
-
Evidence:
- Pubmed Ids:
- HuGE Navigator Score: None
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: GeneCards
- GJA1P1
-
PDE4D
- Genotator Score: 0.0
- Description: "phosphodiesterase 4D, cAMP-specific (phosphodiesterase E3 dunce homolog, Drosophila)"
- Chromosome: 5, Band: 5q12
- Gene Synonyms: DPDE3, HSPDE4D, PDE4DN2, STRK1
- Other Descriptions: "cAMP-specific phosphodiesterase 4D, cAMP-specific phosphodiesterase PDE4D6, dunce-like phosphodiesterase E3, phosphodiesterase 4D, phosphodiesterase 4D, cAMP-specific (dunce"
- Cross-references: NCBI: 5144, Ensembl: ENSG00000113448
-
Evidence:
- Pubmed Ids:
- HuGE Navigator Score: None
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: WikiGenes
-
CALR3
- Genotator Score: 0.0
- Description: calreticulin 3
- Chromosome: 19, Band: 19p13.11
- Gene Synonyms: CRT2, CT93, FLJ25355, MGC26577
- Other Descriptions: calreticulin 2
- Cross-references: NCBI: 125972, Ensembl: ENSG00000141979
- Evidence:
-
CNBP
- Genotator Score: 0.0
- Description: "CCHC-type zinc finger, nucleic acid binding protein"
- Chromosome: 3, Band: 3q21
- Gene Synonyms: CNBP1, DM2, FLJ11631, PROMM, RNF163, ZCCHC22, ZNF9
- Other Descriptions: cellular nucleic acid binding protein, erythroid differentiation-related, sterol regulatory element-binding protein, zinc finger protein 273, zinc finger protein 9, zinc finger protein 9 (a cellular retroviral nucleic acid binding protein)
- Cross-references: NCBI: 7555, Ensembl: ENSG00000169714
-
Evidence:
- Pubmed Ids:
- HuGE Navigator Score: None
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: WikiGenes
-
ECE1
- Genotator Score: 0.0
- Description: endothelin converting enzyme 1
- Chromosome: 1, Band: 1p36.1
- Gene Synonyms: ECE
- Other Descriptions: OTTHUMP00000002725
- Cross-references: NCBI: 1889, Ensembl: ENSG00000117298
-
Evidence:
- Pubmed Ids:
- HuGE Navigator Score: None
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: GeneCards
-
TEAD4
- Genotator Score: 0.0
- Description: TEA domain family member 4
- Chromosome: 12, Band: 12p13.3-p13.2
- Gene Synonyms: EFTR-2, MGC9014, RTEF1, TCF13L1, TEF-3, TEF3, TEFR-1, hRTEF-1B
- Other Descriptions: related transcription enhancer factor 1B, transcription factor 13-like 1, transcriptional enhancer factor 1-related, transcriptional enhancer factor 3
- Cross-references: NCBI: 7004, Ensembl: ENSG00000197905
-
Evidence:
- Pubmed Ids:
- HuGE Navigator Score: None
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: WikiGenes
-
TEF
- Genotator Score: 0.0
- Description: thyrotrophic embryonic factor
- Chromosome: 22, Band: 22q13|22q13.2
- Gene Synonyms: KIAA1655
- Other Descriptions: thyrotroph embryonic factor
- Cross-references: NCBI: 7008, Ensembl: ENSG00000167074
-
Evidence:
- Pubmed Ids:
- HuGE Navigator Score: None
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: WikiGenes
-
CMR1A
- Genotator Score: 0.0
- Description: "cardiomyopathy, restrictive 1A (autosomal dominant)"
- Chromosome: , Band:
- Gene Synonyms:
- Other Descriptions:
- Cross-references: NCBI: 1245, Ensembl:
- Evidence:
-
HSPE1
- Genotator Score: 0.0
- Description: heat shock 10kDa protein 1 (chaperonin 10)
- Chromosome: 2, Band: 2q33.1
- Gene Synonyms: CPN10, GROES, HSP10
- Other Descriptions: chaperonin 10, heat shock 10kD protein 1 (chaperonin 10), heat shock 10kDa protein 1
- Cross-references: NCBI: 3336, Ensembl: ENSG00000115541
-
Evidence:
- Pubmed Ids:
- HuGE Navigator Score: None
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: WikiGenes
-
FKRP
- Genotator Score: 0.0
- Description: fukutin related protein
- Chromosome: 19, Band: 19q13.32
- Gene Synonyms: FLJ12576, LGMD2I, MDC1C, MGC2991
- Other Descriptions: fukutin-related protein
- Cross-references: NCBI: 79147, Ensembl: ENSG00000181027
-
Evidence:
- Pubmed Ids:
- HuGE Navigator Score: None
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: GeneCards
-
MYO1E
- Genotator Score: 0.0
- Description: myosin IE
- Chromosome: 15, Band: 15q21-q22
- Gene Synonyms: HuncM-IC, MGC104638, MYO1C
- Other Descriptions: MYO1E variant protein, myosin-IC
- Cross-references: NCBI: 4643, Ensembl: ENSG00000157483
-
Evidence:
- Pubmed Ids:
- HuGE Navigator Score: None
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: WikiGenes
-
RHD
- Genotator Score: 0.0
- Description: "Rh blood group, D antigen"
- Chromosome: 1, Band: 1p36.11
- Gene Synonyms: CD240D, DIIIc, MGC165007, RH, RH30, RHCED, RHDVA(TT), RHDel, RHPII, RHXIII, Rh4, RhDCw, RhII, RhK562-II, RhPI
- Other Descriptions: D antigen (DCS), OTTHUMP00000003536, RH polypeptide 2, Rh blood group D antigen, Rh blood group antigen Evans, Rhesus system D polypeptide
- Cross-references: NCBI: 6007, Ensembl: ENSG00000187010
-
Evidence:
- Pubmed Ids:
- HuGE Navigator Score: None
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: WikiGenes
-
TEAD1
- Genotator Score: 0.0
- Description: TEA domain family member 1 (SV40 transcriptional enhancer factor)
- Chromosome: 11, Band: 11p15.2
- Gene Synonyms: AA, REF1, TCF13, TEF-1
- Other Descriptions: "SV40 transcriptional enhancer factor, TEA domain family member 1, atrophia areata, peripapillary chorioretinal degeneration, transcription factor 13, transcriptional enhancer factor 1"
- Cross-references: NCBI: 7003, Ensembl: ENSG00000187079
-
Evidence:
- Pubmed Ids:
- HuGE Navigator Score: None
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: WikiGenes
-
ANKH
- Genotator Score: 0.0
- Description: "ankylosis, progressive homolog (mouse)"
- Chromosome: 5, Band: 5p15.1
- Gene Synonyms: ANK, CCAL2, CMDJ, CPPDD, FLJ27166, HANK, MANK
- Other Descriptions: progressive ankylosis protein
- Cross-references: NCBI: 56172, Ensembl: ENSG00000154122
-
Evidence:
- Pubmed Ids:
- HuGE Navigator Score: None
- GAD counts: yes=0, no=0, null=1
- Evidence Sources: GAD
-
P2RX4
- Genotator Score: 0.0
- Description: "purinergic receptor P2X, ligand-gated ion channel, 4"
- Chromosome: 12, Band: 12q24.32
- Gene Synonyms: P2X4, P2X4R
- Other Descriptions: "ATP receptor, ATP-gated cation channel protein, P2X purinoceptor 4, P2X receptor, subunit 4, purinergic receptor P2X4, purinoceptor P2X4"
- Cross-references: NCBI: 5025, Ensembl: ENSG00000135124
-
Evidence:
- Pubmed Ids:
- HuGE Navigator Score: None
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: WikiGenes
-
VCP
- Genotator Score: 0.0
- Description: valosin-containing protein
- Chromosome: 9, Band: 9p13.3
- Gene Synonyms: IBMPFD, MGC131997, MGC148092, MGC8560, TERA, p97
- Other Descriptions: transitional endoplasmic reticulum ATPase, yeast Cdc48p homolog
- Cross-references: NCBI: 7415, Ensembl: ENSG00000165280
-
Evidence:
- Pubmed Ids:
- HuGE Navigator Score: None
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: WikiGenes
-
CMR2A
- Genotator Score: 0.0
- Description: "cardiomyopathy, restrictive 2A (autosomal recessive)"
- Chromosome: , Band:
- Gene Synonyms:
- Other Descriptions:
- Cross-references: NCBI: 1246, Ensembl:
- Evidence:
-
NDUFV2
- Genotator Score: 0.0
- Description: "NADH dehydrogenase (ubiquinone) flavoprotein 2, 24kDa"
- Chromosome: 18, Band: 18p11.31-p11.2
- Gene Synonyms:
- Other Descriptions: "NADH dehydrogenase ubiquinone flavoprotein 2, NADH dehydrogenase ubiquinone flavoprotein 2, mitochondrial, NADH-ubiquinone oxidoreductase flavoprotein 2, complex I, mitochondrial respitory chain, 24 kD subunit"
- Cross-references: NCBI: 4729, Ensembl: ENSG00000178127
-
Evidence:
- Pubmed Ids:
- HuGE Navigator Score: None
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: WikiGenes
-
CYC1
- Genotator Score: 0.0
- Description: cytochrome c-1
- Chromosome: 8, Band: 8q24.3
- Gene Synonyms: UQCR4
- Other Descriptions:
- Cross-references: NCBI: 1537, Ensembl: ENSG00000179091
-
Evidence:
- Pubmed Ids:
- HuGE Navigator Score: None
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: WikiGenes
-
NDUFS7
- Genotator Score: 0.0
- Description: "NADH dehydrogenase (ubiquinone) Fe-S protein 7, 20kDa (NADH-coenzyme Q reductase)"
- Chromosome: 19, Band: 19p13.3
- Gene Synonyms: CI-20KD, FLJ45860, FLJ46880, MGC120002, MY017, PSST
- Other Descriptions: "NADH dehydrogenase [ubiquinone] iron-sulfur protein 7, mitochondrial, NADH-coenzyme Q reductase, NADH-ubiquinone oxidoreductase Fe-S protein 7, NADH:ubiquinone oxidoreductase PSST subunit, complex I, mitochondrial respiratory chain, 20-KD subunit, complex I-20kD"
- Cross-references: NCBI: 374291, Ensembl: ENSG00000115286
- Evidence:
-
EXOG
- Genotator Score: 0.0
- Description: "endo/exonuclease (5'-3'), endonuclease G-like"
- Chromosome: 3, Band: 3p21.3
- Gene Synonyms: ENDOGL1, ENDOGL2, ENGL, ENGL-a, ENGL-b, ENGLA, ENGLB, MGC125944, MGC125945
- Other Descriptions: endonuclease G-like 1, endonuclease G-like 2
- Cross-references: NCBI: 9941, Ensembl: ENSG00000157036
-
Evidence:
- Pubmed Ids:
- HuGE Navigator Score: None
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: WikiGenes
-
CMR3A
- Genotator Score: 0.0
- Description: "cardiomyopathy, restrictive 3A (X-linked)"
- Chromosome: X, Band: Xpter-qter
- Gene Synonyms:
- Other Descriptions:
- Cross-references: NCBI: 1247, Ensembl:
- Evidence:
-
YAP1
- Genotator Score: 0.0
- Description: "Yes-associated protein 1, 65kDa"
- Chromosome: 11, Band: 11q13
- Gene Synonyms: YAP, YAP2, YAP65, YKI
- Other Descriptions: yes-associated protein 2
- Cross-references: NCBI: 10413, Ensembl: ENSG00000137693
-
Evidence:
- Pubmed Ids:
- HuGE Navigator Score: None
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: WikiGenes
-
ACAD8
- Genotator Score: 0.0
- Description: "acyl-Coenzyme A dehydrogenase family, member 8"
- Chromosome: 11, Band: 11q25
- Gene Synonyms: ACAD-8, FLJ22590
- Other Descriptions: acyl-coenzyme A dehydrogenase 8
- Cross-references: NCBI: 27034, Ensembl: ENSG00000151498
-
Evidence:
- Pubmed Ids:
- HuGE Navigator Score: None
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: GenAtlas
-
ACAD9
- Genotator Score: 0.0
- Description: "acyl-Coenzyme A dehydrogenase family, member 9"
- Chromosome: 3, Band: 3q21.3
- Gene Synonyms: ACAD-9, FLJ23533, MGC14452, NPD002
- Other Descriptions: acyl-CoA dehydrogenase 9, very-long-chain acyl-CoA dehydrogenase VLCAD
- Cross-references: NCBI: 28976, Ensembl: ENSG00000177646
-
Evidence:
- Pubmed Ids:
- HuGE Navigator Score: None
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: GenAtlas
-
NDUFS2
- Genotator Score: 0.0
- Description: "NADH dehydrogenase (ubiquinone) Fe-S protein 2, 49kDa (NADH-coenzyme Q reductase)"
- Chromosome: 1, Band: 1q23
- Gene Synonyms:
- Other Descriptions: NADH dehydrogenase (ubiquinone) Fe-S protein 2, NADH-ubiquinone oxidoreductase Fe-S protein 2, NADH-ubiquinone oxidoreductase NDUFS2 subunit, OTTHUMP00000032241
- Cross-references: NCBI: 4720, Ensembl: ENSG00000158864
-
Evidence:
- Pubmed Ids:
- HuGE Navigator Score: None
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: WikiGenes
-
ATPAF2
- Genotator Score: 0.0
- Description: ATP synthase mitochondrial F1 complex assembly factor 2
- Chromosome: 17, Band: 17p11.2
- Gene Synonyms: ATP12, ATP12p, LP3663, MGC29736
- Other Descriptions:
- Cross-references: NCBI: 91647, Ensembl: ENSG00000171953
-
Evidence:
- Pubmed Ids:
- HuGE Navigator Score: None
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: GenAtlas
-
NEXN
- Genotator Score: 0.0
- Description: nexilin (F actin binding protein)
- Chromosome: 1, Band: 1p31.1
- Gene Synonyms: MGC104234, MGC138865, MGC138866, NELIN
- Other Descriptions: "OTTHUMP00000038336, nexilin, NELIN"
- Cross-references: NCBI: 91624, Ensembl: ENSG00000162614
- Evidence:
-
PMM2
- Genotator Score: 0.0
- Description: phosphomannomutase 2
- Chromosome: 16, Band: 16p13.3-p13.2
- Gene Synonyms: CDG1, CDG1a, CDGS
- Other Descriptions:
- Cross-references: NCBI: 5373, Ensembl: ENSG00000140650
-
Evidence:
- Pubmed Ids:
- HuGE Navigator Score: None
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: GenAtlas
-
PRPF6
- Genotator Score: 0.0
- Description: PRP6 pre-mRNA processing factor 6 homolog (S. cerevisiae)
- Chromosome: 20, Band: 20q13.33
- Gene Synonyms: ANT-1, C20orf14, TOM, U5-102K, hPrp6
- Other Descriptions: OTTHUMP00000031625, PRP6 pre-mRNA processing factor 6 homolog, U5 snRNP-associated 102 kDa protein, androgen receptor N-terminal domain transactivating protein-1, p102 U5 small nuclear ribonucleoprotein particle-binding protein, putative mitochondrial outer membrane protein import receptor
- Cross-references: NCBI: 24148, Ensembl: ENSG00000101161
-
Evidence:
- Pubmed Ids:
- HuGE Navigator Score: None
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: WikiGenes
-
ACADVL
- Genotator Score: 0.0
- Description: "acyl-Coenzyme A dehydrogenase, very long chain"
- Chromosome: 17, Band: 17p13-p11
- Gene Synonyms: ACAD6, LCACD, VLCAD
- Other Descriptions:
- Cross-references: NCBI: 37, Ensembl: ENSG00000072778
- Evidence:
-
CASQ2
- Genotator Score: 0.0
- Description: calsequestrin 2 (cardiac muscle)
- Chromosome: 1, Band: 1p13.3-p11
- Gene Synonyms: FLJ26321, FLJ93514, PDIB2
- Other Descriptions: "OTTHUMP00000013749, calsequestrin 2, fast-twitch, cardiac muscle, cardiac calsequestrin 2"
- Cross-references: NCBI: 845, Ensembl: ENSG00000118729
- Evidence:
-
IVNS1ABP
- Genotator Score: 0.0
- Description: influenza virus NS1A binding protein
- Chromosome: 1, Band: 1q25.1-q31.1
- Gene Synonyms: DKFZp686K06216, FLARA3, FLJ10069, FLJ10411, FLJ10962, FLJ35593, FLJ36593, HSPC068, KIAA0850, ND1, NS-1, NS1-BP, NS1BP
- Other Descriptions: NCX downstream gene 1, NS1-binding protein, OTTHUMP00000033394, aryl hydrocarbon receptor-associated 3
- Cross-references: NCBI: 10625, Ensembl: ENSG00000116679
-
Evidence:
- Pubmed Ids:
- HuGE Navigator Score: None
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator, WikiGenes
-
FLT1
- Genotator Score: 0.0
- Description: fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor)
- Chromosome: 13, Band: 13q12
- Gene Synonyms: FLT, VEGFR1
- Other Descriptions: fms-related tyrosine kinase 1, vascular endothelial growth factor receptor 1
- Cross-references: NCBI: 2321, Ensembl: ENSG00000102755
- Evidence:
-
KLK1
- Genotator Score: 0.0
- Description: kallikrein 1
- Chromosome: 19, Band: 19q13.3
- Gene Synonyms: KLKR, Klk6, hK1
- Other Descriptions: "glandular kallikrein 1, kallikrein 1, renal/pancreas/salivary, kallikrein serine protease 1, tissue kallikrein"
- Cross-references: NCBI: 3816, Ensembl: ENSG00000167748
-
Evidence:
- Pubmed Ids:
- HuGE Navigator Score: None
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: WikiGenes
-
GDF15
- Genotator Score: 0.0
- Description: growth differentiation factor 15
- Chromosome: 19, Band: 19p13.11
- Gene Synonyms: GDF-15, MIC-1, MIC1, NAG-1, PDF, PLAB, PTGFB
- Other Descriptions: NSAID (nonsteroidal anti-inflammatory drug)-activated protein 1, PTGF-beta, prostate differentiation factor
- Cross-references: NCBI: 9518, Ensembl: ENSG00000130513
-
Evidence:
- Pubmed Ids:
- HuGE Navigator Score: None
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: WikiGenes
-
PDLIM7
- Genotator Score: 0.0
- Description: PDZ and LIM domain 7 (enigma)
- Chromosome: 5, Band: 5q35.3
- Gene Synonyms: LMP1
- Other Descriptions: 1110003B01Rik, LIM domain protein, PDZ and LIM domain 7
- Cross-references: NCBI: 9260, Ensembl: ENSG00000196923
-
Evidence:
- Pubmed Ids:
- HuGE Navigator Score: None
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: WikiGenes
-
UTRN
- Genotator Score: 0.0
- Description: utrophin
- Chromosome: 6, Band: 6q24
- Gene Synonyms: DMDL, DRP, DRP1, FLJ23678
- Other Descriptions: OTTHUMP00000017350, OTTHUMP00000040139, dystrophin-related protein
- Cross-references: NCBI: 7402, Ensembl: ENSG00000152818
- Evidence:
-
HTRA2
- Genotator Score: 0.0
- Description: HtrA serine peptidase 2
- Chromosome: 2, Band: 2p12
- Gene Synonyms: OMI, PARK13, PRSS25
- Other Descriptions: "HtrA-like serine protease, Omi stress-regulated endoprotease, high temperature requirement protein A2, protease, serine, 25"
- Cross-references: NCBI: 27429, Ensembl: ENSG00000115317
-
Evidence:
- Pubmed Ids:
- HuGE Navigator Score: None
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: WikiGenes
-
VPS13A
- Genotator Score: 0.0
- Description: vacuolar protein sorting 13 homolog A (S. cerevisiae)
- Chromosome: 9, Band: 9q21
- Gene Synonyms: CHAC, CHOREIN, FLJ42030, KIAA0986
- Other Descriptions: vacuolar protein sorting 13A
- Cross-references: NCBI: 23230, Ensembl: ENSG00000197969
-
Evidence:
- Pubmed Ids:
- HuGE Navigator Score: None
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: WikiGenes
-
S100A1
- Genotator Score: 0.0
- Description: S100 calcium binding protein A1
- Chromosome: 1, Band: 1q21
- Gene Synonyms: S100, S100-alpha, S100A
- Other Descriptions: "OTTHUMP00000035100, S100 alpha, S100 calcium-binding protein A1, S100 protein, alpha polypeptide"
- Cross-references: NCBI: 6271, Ensembl: ENSG00000160678
-
Evidence:
- Pubmed Ids:
- HuGE Navigator Score: None
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: WikiGenes
-
C12ORF62
- Genotator Score: 0.0
- Description: chromosome 12 open reading frame 62
- Chromosome: 12, Band: 12q13.13
- Gene Synonyms: MGC14288
- Other Descriptions: hypothetical protein LOC84987
- Cross-references: NCBI: 84987, Ensembl: ENSG00000178449
-
Evidence:
- Pubmed Ids:
- HuGE Navigator Score: None
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: GenAtlas
-
ABCC11
- Genotator Score: 0.0
- Description: "ATP-binding cassette, sub-family C (CFTR/MRP), member 11"
- Chromosome: 16, Band: 16q12.1
- Gene Synonyms: EWWD, MRP8, WW
- Other Descriptions: "ATP-binding cassette protein C11, ATP-binding cassette transporter MRP8, ATP-binding cassette, sub-family C, member 11, OTTHUMP00000164191, multi-resistance protein 8"
- Cross-references: NCBI: 85320, Ensembl: ENSG00000121270
-
Evidence:
- Pubmed Ids:
- HuGE Navigator Score: None
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: WikiGenes
-
PDE4DIP
- Genotator Score: 0.0
- Description: phosphodiesterase 4D interacting protein
- Chromosome: 1, Band: 1q12
- Gene Synonyms: CMYA2, DKFZp781J054, MGC75440, MMGL
- Other Descriptions: OTTHUMP00000015726, OTTHUMP00000015727, cardiomyopathy associated 2, myomegalin
- Cross-references: NCBI: 9659, Ensembl: ENSG00000178104
- Evidence:
-
MDH1
- Genotator Score: 0.0
- Description: "malate dehydrogenase 1, NAD (soluble)"
- Chromosome: 2, Band: 2p13.3
- Gene Synonyms: MDH-s, MDHA, MGC:1375, MOR2
- Other Descriptions: cytosolic malate dehydrogenase, soluble malate dehydrogenase
- Cross-references: NCBI: 4190, Ensembl: ENSG00000014641
-
Evidence:
- Pubmed Ids:
- HuGE Navigator Score: None
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: WikiGenes
-
CHKB
- Genotator Score: 0.0
- Description: choline kinase beta
- Chromosome: 22, Band: 22q13.33
- Gene Synonyms: CHETK, CHKL, CKEKB, EKB
- Other Descriptions: choline kinase-like, choline/ethanolamine kinase
- Cross-references: NCBI: 1120, Ensembl: ENSG00000100288
-
Evidence:
- Pubmed Ids:
- HuGE Navigator Score: None
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: GeneCards
-
DAG1
- Genotator Score: 0.0
- Description: dystroglycan 1 (dystrophin-associated glycoprotein 1)
- Chromosome: 3, Band: 3p21
- Gene Synonyms: 156DAG, A3a, AGRNR, DAG
- Other Descriptions: alpha-dystroglycan, beta-dystroglycan, dystroglycan 1, dystrophin-associated glycoprotein-1
- Cross-references: NCBI: 1605, Ensembl: ENSG00000173402
-
Evidence:
- Pubmed Ids:
- HuGE Navigator Score: None
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: WikiGenes
-
XK
- Genotator Score: 0.0
- Description: X-linked Kx blood group (McLeod syndrome)
- Chromosome: X, Band: Xp21.1
- Gene Synonyms: KX, X1k, XKR1
- Other Descriptions: "Kell blood group precursor (McLeod phenotype), Kx antigen, OTTHUMP00000031911, XK, Kell blood group complex subunit (McLeod syndrome), XK-related protein 1, membrane transport protein XK"
- Cross-references: NCBI: 7504, Ensembl: ENSG00000047597
-
Evidence:
- Pubmed Ids:
- HuGE Navigator Score: None
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: WikiGenes
-
TCF21
- Genotator Score: 0.0
- Description: transcription factor 21
- Chromosome: 6, Band: 6pter-qter
- Gene Synonyms: POD1, bHLHa23
- Other Descriptions: OTTHUMP00000017238, OTTHUMP00000017239, capsulin, epicardin, podocyte-expressed 1
- Cross-references: NCBI: 6943, Ensembl: ENSG00000118526
- Evidence:
-
EMB
- Genotator Score: 0.0
- Description: embigin homolog (mouse)
- Chromosome: 5, Band: 5q11.1
- Gene Synonyms: MGC71745
- Other Descriptions: embigin
- Cross-references: NCBI: 133418, Ensembl: ENSG00000170571
-
Evidence:
- Pubmed Ids:
- HuGE Navigator Score: None
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: WikiGenes
-
LAMA2
- Genotator Score: 0.0
- Description: "laminin, alpha 2"
- Chromosome: 6, Band: 6q22-q23
- Gene Synonyms: LAMM
- Other Descriptions: OTTHUMP00000017189, laminin M, laminin alpha 2 subunit, merosin heavy chain
- Cross-references: NCBI: 3908, Ensembl: ENSG00000196569
-
Evidence:
- Pubmed Ids:
- HuGE Navigator Score: None
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: GeneCards
-
LAMA4
- Genotator Score: 0.0
- Description: "laminin, alpha 4"
- Chromosome: 6, Band: 6q21
- Gene Synonyms: DKFZp686D23145, LAMA3, LAMA4*-1
- Other Descriptions: OTTHUMP00000017039, OTTHUMP00000017043, laminin alpha 4 chain
- Cross-references: NCBI: 3910, Ensembl: ENSG00000112769
- Evidence:
-
ALG12
- Genotator Score: 0.0
- Description: "asparagine-linked glycosylation 12, alpha-1,6-mannosyltransferase homolog (S. cerevisiae)"
- Chromosome: 22, Band: 22q13.33
- Gene Synonyms: ECM39, MGC111358, MGC3136, PP14673, hALG12
- Other Descriptions: "alpha-1,6-mannosyltransferase ALG12, asparagine-linked glycosylation 12 homolog (S. cerevisiae, alpha-1,6-mannosyltransferase), asparagine-linked glycosylation 12 homolog (yeast, alpha-1,6-mannosyltransferase), dolichyl-P-mannose:Man-7-GlcNAc-2-PP-dolichyl-alpha-6-mannosyltransferase, mannosyltransferase ALG12 homolog, membrane protein SB87"
- Cross-references: NCBI: 79087, Ensembl: ENSG00000182858
-
Evidence:
- Pubmed Ids:
- HuGE Navigator Score: None
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: GenAtlas
-
MYBPC2
- Genotator Score: 0.0
- Description: "myosin binding protein C, fast type"
- Chromosome: 19, Band: 19q13.33
- Gene Synonyms: MGC163408, MYBPC, MYBPCF
- Other Descriptions: "fast-type muscle myosin-binding-protein C, myosin-binding protein C, fast-type"
- Cross-references: NCBI: 4606, Ensembl:
-
Evidence:
- Pubmed Ids:
- HuGE Navigator Score: None
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: GeneCards
-
MYBPC1
- Genotator Score: 0.0
- Description: "myosin binding protein C, slow type"
- Chromosome: 12, Band: 12q23.2
- Gene Synonyms: MYBPCC, MYBPCS, slow-type
- Other Descriptions: "myosin-binding protein C, slow-type, skeletal muscle C-protein"
- Cross-references: NCBI: 4604, Ensembl: ENSG00000196091
-
Evidence:
- Pubmed Ids:
- HuGE Navigator Score: None
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: GeneCards
-
GJA5
- Genotator Score: 0.0
- Description: "gap junction protein, alpha 5, 40kDa"
- Chromosome: 1, Band: 1q21.1
- Gene Synonyms: CX40, MGC11185
- Other Descriptions: OTTHUMP00000015905, connexin 40
- Cross-references: NCBI: 2702, Ensembl: ENSG00000143140
-
Evidence:
- Pubmed Ids:
- HuGE Navigator Score: None
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: WikiGenes
-
MCCC1
- Genotator Score: 0.0
- Description: methylcrotonoyl-Coenzyme A carboxylase 1 (alpha)
- Chromosome: 3, Band: 3q27
- Gene Synonyms: DKFZp686B20267, FLJ25545, MCC-B, MCCA
- Other Descriptions: 3-methylcrotonyl-CoA carboxylase biotin-containing subunit, 3-methylcrotonyl-CoA:carbon dioxide ligase subunit alpha
- Cross-references: NCBI: 56922, Ensembl: ENSG00000078070
-
Evidence:
- Pubmed Ids:
- HuGE Navigator Score: None
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: WikiGenes
-
LMOD1
- Genotator Score: 0.0
- Description: leiomodin 1 (smooth muscle)
- Chromosome: 1, Band: 1q32
- Gene Synonyms: 1D, 64kD, D1, FLJ55689, SM-LMOD
- Other Descriptions: leimodin 1 (smooth muscle), thyroid and eye muscle autoantigen D1 (64kD)
- Cross-references: NCBI: 25802, Ensembl: ENSG00000163431
-
Evidence:
- Pubmed Ids:
- HuGE Navigator Score: None
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: WikiGenes
-
DNAJC19
- Genotator Score: 0.0
- Description: "DnaJ (Hsp40) homolog, subfamily C, member 19"
- Chromosome: 3, Band: 3q26.33
- Gene Synonyms: TIM14, TIMM14
- Other Descriptions: "DnaJ homolog, subfamily C, member 19, homolog of yeast TIM14"
- Cross-references: NCBI: 131118, Ensembl: ENSG00000205981
- Evidence:
-
COX15
- Genotator Score: 0.0
- Description: "COX15 homolog, cytochrome c oxidase assembly protein (yeast)"
- Chromosome: 10, Band: 10q24
- Gene Synonyms:
- Other Descriptions: COX15 homolog, OTTHUMP00000020263, OTTHUMP00000020264, cytochrome c oxidase subunit 15
- Cross-references: NCBI: 1355, Ensembl: ENSG00000014919
- Evidence:
-
ADAM11
- Genotator Score: 0.0
- Description: ADAM metallopeptidase domain 11
- Chromosome: 17, Band: 17q21.3
- Gene Synonyms: MDC
- Other Descriptions: "a disintegrin and metalloproteinase domain 11, metalloproteinase-like, disintegrin-like, cysteine-rich protein"
- Cross-references: NCBI: 4185, Ensembl: ENSG00000073670
-
Evidence:
- Pubmed Ids:
- HuGE Navigator Score: None
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: WikiGenes
-
SLC25A4
- Genotator Score: 0.0
- Description: "solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4"
- Chromosome: 4, Band: 4q35
- Gene Synonyms: AAC1, ANT, ANT1, PEO2, PEO3, T1
- Other Descriptions: adenine nucleotide translocator 1 (skeletal muscle)
- Cross-references: NCBI: 291, Ensembl: ENSG00000151729
- Evidence:
-
ADC
- Genotator Score: 0.0
- Description: arginine decarboxylase
- Chromosome: 1, Band: 1p33-p34.3
- Gene Synonyms: AZI2, KIAA1945, ODC-p, ODC1L
- Other Descriptions: ODC antizyme inhibitor-2, OTTHUMP00000004284, OTTHUMP00000004285, antizyme inhibitor 2, ornithine decarboxylase like, ornithine decarboxylase-like, ornithine decarboxylase-paralog
- Cross-references: NCBI: 113451, Ensembl: ENSG00000142920
-
Evidence:
- Pubmed Ids:
- HuGE Navigator Score: None
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: WikiGenes
-
SGCA
- Genotator Score: 0.0
- Description: "sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein)"
- Chromosome: 17, Band: 17q21
- Gene Synonyms: 50-DAG, A2, ADL, DAG2, DMDA2, LGMD2D, SCARMD1, adhalin
- Other Descriptions: "50kD DAG, sarcoglycan, alpha"
- Cross-references: NCBI: 6442, Ensembl: ENSG00000108823
- Evidence:
-
SGCB
- Genotator Score: 0.0
- Description: "sarcoglycan, beta (43kDa dystrophin-associated glycoprotein)"
- Chromosome: 4, Band: 4q12
- Gene Synonyms: A3b, LGMD2E, SGC
- Other Descriptions: "OTTHUMP00000158880, beta-sarcoglycan(43kD dystrophin-associated glycoprotein), limb girdle muscular dystrophy 2E (non-linked families), sarcoglycan, beta, sarcoglycan, beta (43kD dystrophin-associated glycoprotein)"
- Cross-references: NCBI: 6443, Ensembl: ENSG00000163069
-
Evidence:
- Pubmed Ids:
- HuGE Navigator Score: None
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: WikiGenes
- IGKV5-2
-
FKBP1B
- Genotator Score: 0.0
- Description: "FK506 binding protein 1B, 12.6 kDa"
- Chromosome: 2, Band: 2p23.3
- Gene Synonyms: FKBP12.6, FKBP1L, OTK4, PKBP1L, PPIase
- Other Descriptions: FK506-binding protein 1-like, FK506-binding protein 12.6, OTTHUMP00000116040, OTTHUMP00000116041, calstabin 2, immunophilin FKBP12.6, peptidyl-prolyl cis-trans isomerase, rotamase
- Cross-references: NCBI: 2281, Ensembl: ENSG00000119782
-
Evidence:
- Pubmed Ids:
- HuGE Navigator Score: None
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: WikiGenes
-
PRKAA2
- Genotator Score: 0.0
- Description: "protein kinase, AMP-activated, alpha 2 catalytic subunit"
- Chromosome: 1, Band: 1p31
- Gene Synonyms: AMPK, AMPK2, PRKAA
- Other Descriptions: "5'-AMP-activated protein kinase, catalytic alpha-2 chain, AMP-activated protein kinase alpha 2 catalytic subunit, AMPK-alpha-2 chain, OTTHUMP00000009993"
- Cross-references: NCBI: 5563, Ensembl: ENSG00000162409
-
Evidence:
- Pubmed Ids:
- HuGE Navigator Score: None
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: WikiGenes
-
AGK
- Genotator Score: 0.0
- Description: acylglycerol kinase
- Chromosome: 7, Band: 7q34
- Gene Synonyms: FLJ10842, MULK
- Other Descriptions: multi-substrate lipid kinase, multiple substrate lipid kinase
- Cross-references: NCBI: 55750, Ensembl: ENSG00000006530
-
Evidence:
- Pubmed Ids:
- HuGE Navigator Score: None
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: GenAtlas
-
AGL
- Genotator Score: 0.0
- Description: "amylo-1, 6-glucosidase, 4-alpha-glucanotransferase"
- Chromosome: 1, Band: 1p21
- Gene Synonyms: GDE
- Other Descriptions: "OTTHUMP00000012500, OTTHUMP00000012501, OTTHUMP00000012502, OTTHUMP00000012503, OTTHUMP00000012504, OTTHUMP00000012505, amylo-1,6-glucosidase, 4-alpha-glucanotransferase, glycogen debranching enzyme"
- Cross-references: NCBI: 178, Ensembl: ENSG00000162688
-
Evidence:
- Pubmed Ids:
- HuGE Navigator Score: None
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: WikiGenes
-
DTNA
- Genotator Score: 0.0
- Description: "dystrobrevin, alpha"
- Chromosome: 18, Band: 18q12
- Gene Synonyms: D18S892E, DRP3, DTN, FLJ96209, LVNC1
- Other Descriptions: OTTHUMP00000163154, OTTHUMP00000163155, dystrobrevin alpha, dystrophin-related protein 3
- Cross-references: NCBI: 1837, Ensembl: ENSG00000134769
-
Evidence:
- Pubmed Ids:
- HuGE Navigator Score: None
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: GenAtlas
-
ATP1A1
- Genotator Score: 0.0
- Description: "ATPase, Na+/K+ transporting, alpha 1 polypeptide"
- Chromosome: 1, Band: 1p21
- Gene Synonyms: MGC3285, MGC51750
- Other Descriptions: "Na+, K+ ATPase alpha subunit, Na+/K+ -ATPase alpha 1 subunit, Na+/K+ ATPase 1, Na, K-ATPase, alpha-A catalytic polypeptide, Na,K-ATPase alpha-1 subunit, Na,K-ATPase catalytic subunit alpha-A protein, OTTHUMP00000013935, sodium pump 1, sodium-potassium-ATPase, alpha 1 polypeptide"
- Cross-references: NCBI: 476, Ensembl: ENSG00000163399
-
Evidence:
- Pubmed Ids:
- HuGE Navigator Score: None
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: WikiGenes
- TRNG
-
ATP6V1E1
- Genotator Score: 0.0
- Description: "ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E1"
- Chromosome: 22, Band: 22pter-q11.2|22q11.1
- Gene Synonyms: ATP6E, ATP6E2, ATP6V1E, P31, Vma4
- Other Descriptions: "ATPase, H+ transporting, lysosomal (vacuolar proton pump) 31kD, H(+)-transporting two-sector ATPase, 31kDa subunit, H+-transporting ATP synthase chain E, vacuolar, V-ATPase, subunit E, vacuolar H+ ATPase E1"
- Cross-references: NCBI: 529, Ensembl: ENSG00000131100
-
Evidence:
- Pubmed Ids:
- HuGE Navigator Score: None
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: WikiGenes
-
HFE2
- Genotator Score: 0.0
- Description: hemochromatosis type 2 (juvenile)
- Chromosome: 1, Band: 1q21.1
- Gene Synonyms: HFE2A, HJV, JH, MGC23953, RGMC
- Other Descriptions: "OTTHUMP00000015582, OTTHUMP00000015583, OTTHUMP00000059680, RGM domain family, member C, hemochromatosis type 2 protein, hemojuvelin"
- Cross-references: NCBI: 148738, Ensembl: ENSG00000168509
- Evidence:
-
SLC25A20
- Genotator Score: 0.0
- Description: "solute carrier family 25 (carnitine/acylcarnitine translocase), member 20"
- Chromosome: 3, Band: 3p21.31
- Gene Synonyms: CAC, CACT
- Other Descriptions: carnitine/acylcarnitine carrier protein, carnitine/acylcarnitine translocase
- Cross-references: NCBI: 788, Ensembl: ENSG00000178537
-
Evidence:
- Pubmed Ids:
- HuGE Navigator Score: None
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: WikiGenes
-
MYO6
- Genotator Score: 0.0
- Description: myosin VI
- Chromosome: 6, Band: 6q13
- Gene Synonyms: DFNA22, DFNB37, KIAA0389
- Other Descriptions: OTTHUMP00000016760
- Cross-references: NCBI: 4646, Ensembl: ENSG00000196586
-
Evidence:
- Pubmed Ids:
- HuGE Navigator Score: None
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: OMIM
-
TRIM37
- Genotator Score: 0.0
- Description: tripartite motif-containing 37
- Chromosome: 17, Band: 17q23.2
- Gene Synonyms: KIAA0898, MUL, POB1, TEF3
- Other Descriptions: RING-B-box-coiled-coil protein, tripartite motif-containing 37 protein
- Cross-references: NCBI: 4591, Ensembl: ENSG00000108395
-
Evidence:
- Pubmed Ids:
- HuGE Navigator Score: None
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: WikiGenes
-
CAV3
- Genotator Score: 0.0
- Description: caveolin 3
- Chromosome: 3, Band: 3p25
- Gene Synonyms: LGMD1C, LQT9, MGC126100, MGC126101, MGC126129, VIP-21, VIP21
- Other Descriptions: M-caveolin
- Cross-references: NCBI: 859, Ensembl: ENSG00000182533
- Evidence:
-
SRI
- Genotator Score: 0.0
- Description: sorcin
- Chromosome: 7, Band: 7q21.1
- Gene Synonyms: FLJ26259, SCN
- Other Descriptions: H_RG167B05.1, calcium binding protein amplified in mutlidrug-resistant cells
- Cross-references: NCBI: 6717, Ensembl: ENSG00000075142
- Evidence:
-
MYL4
- Genotator Score: 0.0
- Description: "myosin, light chain 4, alkali; atrial, embryonic"
- Chromosome: 17, Band: 17q21-qter
- Gene Synonyms: ALC1, AMLC, GT1, PRO1957
- Other Descriptions: "atrial/embryonic alkali myosin light chain, myosin, atrial/fetal muscle, light chain, myosin, light polypeptide 4, alkali; atrial, embryonic"
- Cross-references: NCBI: 4635, Ensembl: ENSG00000198336
-
Evidence:
- Pubmed Ids:
- HuGE Navigator Score: None
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: WikiGenes
-
OBSCN
- Genotator Score: 0.0
- Description: "obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF"
- Chromosome: 1, Band: 1q42.13
- Gene Synonyms: DKFZp666E245, FLJ14124, KIAA1556, KIAA1639, MGC120409, MGC120410, MGC120411, MGC120412, MGC138590, UNC89
- Other Descriptions: "obscurin, myosin light chain kinase, obscurin-MLCK, obscurin-RhoGEF"
- Cross-references: NCBI: 84033, Ensembl:
- Evidence:
-
SLC25A12
- Genotator Score: 0.0
- Description: "solute carrier family 25 (mitochondrial carrier, Aralar), member 12"
- Chromosome: 2, Band: 2q24
- Gene Synonyms: AGC1, ARALAR
- Other Descriptions: "araceli hiperlarga, calcium binding mitochondrial carrier superfamily member Aralar1, mitochondrial aspartate glutamate carrier 1, solute carrier family 25, member 12"
- Cross-references: NCBI: 8604, Ensembl: ENSG00000115840
-
Evidence:
- Pubmed Ids:
- HuGE Navigator Score: None
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: WikiGenes
-
TMPO
- Genotator Score: 0.0
- Description: thymopoietin
- Chromosome: 12, Band: 12q22
- Gene Synonyms: CMD1T, LAP2, LEMD4, MGC61508, PRO0868, TP
- Other Descriptions: LEM domain containing 4, lamina-associated polypeptide 2
- Cross-references: NCBI: 7112, Ensembl: ENSG00000120802
-
Evidence:
- Pubmed Ids:
- HuGE Navigator Score: None
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: WikiGenes
-
CPT2
- Genotator Score: 0.0
- Description: carnitine palmitoyltransferase 2
- Chromosome: 1, Band: 1p32
- Gene Synonyms: CPT1, CPTASE
- Other Descriptions: OTTHUMP00000010493, carnitine O-palmitoyltransferase, carnitine palmitoyltransferase II
- Cross-references: NCBI: 1376, Ensembl: ENSG00000157184
-
Evidence:
- Pubmed Ids:
- HuGE Navigator Score: None
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: WikiGenes
-
PCBP1
- Genotator Score: 0.0
- Description: poly(rC) binding protein 1
- Chromosome: 2, Band: 2p13-p12
- Gene Synonyms: HNRPE1, HNRPX, hnRNP-E1, hnRNP-X
- Other Descriptions: alpha-CP1, heterogeneous nuclear ribonucleoprotein E1, heterogenous nuclear ribonucleoprotein E1, heterogenous nuclear ribonucleoprotein X, nucleic acid binding protein sub 2.3
- Cross-references: NCBI: 5093, Ensembl: ENSG00000169564
-
Evidence:
- Pubmed Ids:
- HuGE Navigator Score: None
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: WikiGenes
-
SOX13
- Genotator Score: 0.0
- Description: SRY (sex determining region Y)-box 13
- Chromosome: 1, Band: 1q32
- Gene Synonyms: ICA12, MGC117216, Sox-13
- Other Descriptions: SRY-box 13, SRY-related HMG-box gene 13, islet cell antibody 12, type 1 diabetes autoantigen
- Cross-references: NCBI: 9580, Ensembl:
-
Evidence:
- Pubmed Ids:
- HuGE Navigator Score: None
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: WikiGenes
-
MPP2
- Genotator Score: 0.0
- Description: "membrane protein, palmitoylated 2 (MAGUK p55 subfamily member 2)"
- Chromosome: 17, Band: 17q12-q21
- Gene Synonyms: DKFZp686A06252, DKFZp686J2189, DKFZp761D0712, DLG2
- Other Descriptions: "MAGUK p55 subfamily member 2, discs large, homolog 2, palmitoylated membrane protein 2"
- Cross-references: NCBI: 4355, Ensembl: ENSG00000108852
-
Evidence:
- Pubmed Ids:
- HuGE Navigator Score: None
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: GeneCards
-
TMEM70
- Genotator Score: 0.0
- Description: transmembrane protein 70
- Chromosome: 8, Band: 8q21.11
- Gene Synonyms: FLJ20533
- Other Descriptions:
- Cross-references: NCBI: 54968, Ensembl: ENSG00000175606
- Evidence:
-
EYA4
- Genotator Score: 0.0
- Description: eyes absent homolog 4 (Drosophila)
- Chromosome: 6, Band: 6q23
- Gene Synonyms: CMD1J, DFNA10
- Other Descriptions: OTTHUMP00000017235, OTTHUMP00000040267, dJ78N10.1 (eyes absent), eyes absent 4
- Cross-references: NCBI: 2070, Ensembl: ENSG00000112319
- Evidence:
-
XIRP1
- Genotator Score: 0.0
- Description: xin actin-binding repeat containing 1
- Chromosome: 3, Band: 3p22.2
- Gene Synonyms: CMYA1, DKFZp451D042, DKFZp779C1255, DKFZp779C1947, Xin
- Other Descriptions: cardiomyopathy associated 1
- Cross-references: NCBI: 165904, Ensembl: ENSG00000168334
- Evidence:
-
NANOS3
- Genotator Score: 0.0
- Description: nanos homolog 3 (Drosophila)
- Chromosome: 19, Band: 19p13.12
- Gene Synonyms: MGC120114, NANOS1L, NOS3
- Other Descriptions: nanos homolog 3
- Cross-references: NCBI: 342977, Ensembl:
-
Evidence:
- Pubmed Ids:
- HuGE Navigator Score: None
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: WikiGenes
-
DNAH8
- Genotator Score: 0.0
- Description: "dynein, axonemal, heavy chain 8"
- Chromosome: 6, Band: 6p21.31-p21.1
- Gene Synonyms: ATPase, FLJ25850, FLJ36115, FLJ36334, hdhc9
- Other Descriptions: "OTTHUMP00000017871, OTTHUMP00000039711, dynein, axonemal, heavy polypeptide 8"
- Cross-references: NCBI: 1769, Ensembl: ENSG00000124721
- Evidence:
-
MYOT
- Genotator Score: 0.0
- Description: myotilin
- Chromosome: 5, Band: 5q31
- Gene Synonyms: LGMD1, LGMD1A, TTID
- Other Descriptions: titin immunoglobulin domain protein (myotilin)
- Cross-references: NCBI: 9499, Ensembl: ENSG00000120729
-
Evidence:
- Pubmed Ids:
- HuGE Navigator Score: None
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: GeneCards
-
MYOF
- Genotator Score: 0.0
- Description: myoferlin
- Chromosome: 10, Band: 10q24
- Gene Synonyms: FER1L3, FLJ36571, FLJ90777
- Other Descriptions: "OTTHUMP00000020111, OTTHUMP00000020112, OTTHUMP00000059585, fer-1-like 3, myoferlin"
- Cross-references: NCBI: 26509, Ensembl: ENSG00000138119
-
Evidence:
- Pubmed Ids:
- HuGE Navigator Score: None
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: WikiGenes
-
NDUFA5
- Genotator Score: 0.0
- Description: "NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 5, 13kDa"
- Chromosome: 7, Band: 7q32
- Gene Synonyms: B13, CI-13KD-B, DKFZp781K1356, FLJ12147, NUFM, UQOR13
- Other Descriptions: "Complex I-13KD-B, NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 5, NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 5 (13kD, B13), type I dehydrogenase, ubiquinone reductase"
- Cross-references: NCBI: 4698, Ensembl: ENSG00000128609
-
Evidence:
- Pubmed Ids:
- HuGE Navigator Score: None
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: WikiGenes
- HPT
-
NUP155
- Genotator Score: 0.0
- Description: nucleoporin 155kDa
- Chromosome: 5, Band: 5p13.1
- Gene Synonyms: KIAA0791, N155
- Other Descriptions: nuclear pore complex protein Nup155
- Cross-references: NCBI: 9631, Ensembl: ENSG00000113569
-
Evidence:
- Pubmed Ids:
- HuGE Navigator Score: None
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: GenAtlas
-
SLC6A8
- Genotator Score: 0.0
- Description: "solute carrier family 6 (neurotransmitter transporter, creatine), member 8"
- Chromosome: X, Band: Xq28
- Gene Synonyms: CRT, CRTR, CT1, MGC87396
- Other Descriptions: OTTHUMP00000025945, creatine transporter SLC6A8, sodium- and chloride-dependent creatine transporter 1, solute carrier family 6 member 8
- Cross-references: NCBI: 6535, Ensembl: ENSG00000130821
-
Evidence:
- Pubmed Ids:
- HuGE Navigator Score: None
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: WikiGenes
-
MYPN
- Genotator Score: 0.0
- Description: myopalladin
- Chromosome: 10, Band: 10q21.3
- Gene Synonyms: MYOP
- Other Descriptions: "OTTHUMP00000060740, sarcomeric protein myopalladin, 145 kDa (MYOP)"
- Cross-references: NCBI: 84665, Ensembl: ENSG00000138347
- Evidence:
-
RCE1
- Genotator Score: 0.0
- Description: "RCE1 homolog, prenyl protein peptidase (S. cerevisiae)"
- Chromosome: 11, Band: 11q13
- Gene Synonyms: FACE2, RCE1A, RCE1B
- Other Descriptions: "RCE1 homolog, prenyl protein protease, farnesylated protein-converting enzyme 2, prenyl protein peptidase RCE1, prenyl protein-specific endoprotease 2"
- Cross-references: NCBI: 9986, Ensembl: ENSG00000173653
-
Evidence:
- Pubmed Ids:
- HuGE Navigator Score: None
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: WikiGenes
-
ILK
- Genotator Score: 0.0
- Description: integrin-linked kinase
- Chromosome: 11, Band: 11p15.5-p15.4
- Gene Synonyms: DKFZp686F1765, P59
- Other Descriptions:
- Cross-references: NCBI: 3611, Ensembl: ENSG00000166333
- Evidence:
- LGMD1D
-
MYH1
- Genotator Score: 0.0
- Description: "myosin, heavy chain 1, skeletal muscle, adult"
- Chromosome: 17, Band: 17p13.1
- Gene Synonyms: MGC133384, MYHSA1, MYHa, MyHC-2X/D
- Other Descriptions: "myosin heavy chain IIx/d, myosin, heavy polypeptide 1, skeletal muscle, adult"
- Cross-references: NCBI: 4619, Ensembl: ENSG00000109061
-
Evidence:
- Pubmed Ids:
- HuGE Navigator Score: None
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: WikiGenes
-
CRYAB
- Genotator Score: 0.0
- Description: "crystallin, alpha B"
- Chromosome: 11, Band: 11q22.3-q23.1
- Gene Synonyms: CRYA2, CTPP2, HSPB5
- Other Descriptions: alpha B crystallin, alpha crystallin B chain, heat-shock 20 kD like-protein
- Cross-references: NCBI: 1410, Ensembl: ENSG00000109846
-
Evidence:
- Pubmed Ids:
- HuGE Navigator Score: None
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: GeneCards
-
UGCG
- Genotator Score: 0.0
- Description: UDP-glucose ceramide glucosyltransferase
- Chromosome: 9, Band: 9q31
- Gene Synonyms: GCS, GLCT1
- Other Descriptions: OTTHUMP00000021925, UDP-glucose:N-acylsphingosine D-glucosyltransferase, ceramide glucosyltransferase, glucosylceramide synthase
- Cross-references: NCBI: 7357, Ensembl: ENSG00000148154
-
Evidence:
- Pubmed Ids:
- HuGE Navigator Score: None
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: WikiGenes
-
MYLK2
- Genotator Score: 0.0
- Description: myosin light chain kinase 2
- Chromosome: 20, Band: 20q13.31
- Gene Synonyms: KMLC, MLCK, MLCK2, skMLCK
- Other Descriptions: "OTTHUMP00000030560, OTTHUMP00000030561, OTTHUMP00000030562, myosin light chain kinase 2, skeletal muscle, skeletal muscle myosin light chain kinase, skeletal myosin light chain kinase"
- Cross-references: NCBI: 85366, Ensembl: ENSG00000101306
- Evidence:
- DFNA40
-
CTNNA1
- Genotator Score: 0.0
- Description: "catenin (cadherin-associated protein), alpha 1, 102kDa"
- Chromosome: 5, Band: 5q31
- Gene Synonyms: CAP102, FLJ36832, FLJ52416
- Other Descriptions: "alpha-E-catenin, alpha-catenin, alphaE-catenin, cadherin-associated protein,102kDa, catenin (cadherin-associated protein), alpha 1 (102kD), catenin, alpha 1"
- Cross-references: NCBI: 1495, Ensembl: ENSG00000044115
-
Evidence:
- Pubmed Ids:
- HuGE Navigator Score: None
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: WikiGenes
-
SSPN
- Genotator Score: 0.0
- Description: sarcospan (Kras oncogene-associated gene)
- Chromosome: 12, Band: 12p11.2
- Gene Synonyms: DAGA5, KRAG, NSPN, SPN1, SPN2, nanospan
- Other Descriptions: Kirsten-ras associated, microspan, sarcospan
- Cross-references: NCBI: 8082, Ensembl: ENSG00000123096
-
Evidence:
- Pubmed Ids:
- HuGE Navigator Score: None
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: WikiGenes
-
HLA-DQA2
- Genotator Score: 0.0
- Description: "major histocompatibility complex, class II, DQ alpha 2"
- Chromosome: 6, Band: 6p21.3
- Gene Synonyms: HLA-DXA
- Other Descriptions: OTTHUMP00000029144
- Cross-references: NCBI: 3118, Ensembl: ENSG00000204276
-
Evidence:
- Pubmed Ids:
- HuGE Navigator Score: None
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: WikiGenes
-
CTNNA3
- Genotator Score: 0.0
- Description: "catenin (cadherin-associated protein), alpha 3"
- Chromosome: 10, Band: 10q22.2
- Gene Synonyms: MGC26194, MGC75041, VR22
- Other Descriptions: "OTTHUMP00000019684, alpha-T-catenin, alpha-catenin-like protein, catenin, alpha 3"
- Cross-references: NCBI: 29119, Ensembl: ENSG00000183230
-
Evidence:
- Pubmed Ids:
- HuGE Navigator Score: None
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: WikiGenes
-
C10ORF2
- Genotator Score: 0.0
- Description: chromosome 10 open reading frame 2
- Chromosome: 10, Band: 10q23.3-q24.3
- Gene Synonyms: ATXN8, FLJ21832, IOSCA, PEO, PEO1, PEOA3, SANDO, SCA8, TWINL
- Other Descriptions: OTTHUMP00000020296, ataxin 8, gp4-like protein with intramitochondrial nucleoid localization, twinkle
- Cross-references: NCBI: 56652, Ensembl: ENSG00000107815
-
Evidence:
- Pubmed Ids:
- HuGE Navigator Score: None
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: WikiGenes
-
RYR1
- Genotator Score: 0.0
- Description: ryanodine receptor 1 (skeletal)
- Chromosome: 19, Band: 19q13.1
- Gene Synonyms: CCO, MHS, MHS1, RYDR, RYR, SKRR
- Other Descriptions: central core disease of muscle, ryanodine receptor type1, sarcoplasmic reticulum calcium release channel, skeletal muscle ryanodine receptor, type 1-like ryanodine receptor
- Cross-references: NCBI: 6261, Ensembl: ENSG00000196218
- Evidence:
-
PAFAH1B1
- Genotator Score: -0.2
- Description: "platelet-activating factor acetylhydrolase, isoform Ib, subunit 1 (45kDa)"
- Chromosome: 17, Band: 17p13.3
- Gene Synonyms: LIS1, LIS2, MDCR, MDS, PAFAH
- Other Descriptions: "lissencephaly 1 protein, platelet-activating factor acetylhydrolase, isoform Ib, alpha subunit, platelet-activating factor acetylhydrolase, isoform Ib, alpha subunit 45kDa"
- Cross-references: NCBI: 5048, Ensembl: ENSG00000007168
-
Evidence:
- Pubmed Ids: 16761416,
- HuGE Navigator Score: 0.006
- GAD counts: yes=0, no=1, null=0
- Evidence Sources: HuGE Navigator, GAD
-
PTPRC
- Genotator Score: -0.2
- Description: "protein tyrosine phosphatase, receptor type, C"
- Chromosome: 1, Band: 1q31-q32
- Gene Synonyms: B220, CD45, CD45R, GP180, LCA, LY5, T200
- Other Descriptions: "CD45 antigen, T200 glycoprotein, T200 leukocyte common antigen, glycoprotein, leukocyte-common antigen, protein tyrosine phosphatase, receptor type, c polypeptide"
- Cross-references: NCBI: 5788, Ensembl: ENSG00000081237
-
Evidence:
- Pubmed Ids: 16360841,
- HuGE Navigator Score: 0.006
- GAD counts: yes=0, no=1, null=0
- Evidence Sources: HuGE Navigator, GAD
-
NPPB
- Genotator Score: -1.6
- Description: natriuretic peptide precursor B
- Chromosome: 1, Band: 1p36.2
- Gene Synonyms: BNP
- Other Descriptions: OTTHUMP00000002506, OTTHUMP00000044486, brain type natriuretic peptide, natriuretic protein
- Cross-references: NCBI: 4879, Ensembl: ENSG00000120937
-
Evidence:
- Pubmed Ids: 17343213,
- HuGE Navigator Score: 0.002
- GAD counts: yes=0, no=2, null=0
- Evidence Sources: GeneCards, HuGE Navigator, GAD