Cardiomyopathies
Download as a tab-separated text file.
Genes associated with Cardiomyopathies:-
MYBPC3
- Genotator Score: 65.3
- 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:
-
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: 0.595
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: GeneCards, HuGE Navigator
-
MYH7
- Genotator Score: 63.3
- 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
-
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: 0.573
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: GeneCards, HuGE Navigator
-
HLA-DRB1
- Genotator Score: 55.8
- 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:
-
TNNT2
- Genotator Score: 51.8
- 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
-
Evidence:
- Pubmed Ids: 20038417, 19880069, 19853701, 19875404, 20031618, 19293840, 19150014, 19149795, 19253838, 19035361, 18506004, 18513529, 19412328, 18403758, 17101185, 16754800, 16789403, 16199542, 15769782, 15563892, 15387941, 14636924, 12473556, 12084606,
- HuGE Navigator Score: 0.47
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: GeneCards, HuGE Navigator
-
TNNI3
- Genotator Score: 42.1
- 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
- Evidence:
-
BAG3
- Genotator Score: 35.0
- 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
-
Evidence:
- Pubmed Ids:
- HuGE Navigator Score: 0.35
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
HSPB7
- Genotator Score: 35.0
- 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
-
Evidence:
- Pubmed Ids:
- HuGE Navigator Score: 0.35
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
PTHLH
- Genotator Score: 34.2
- 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
-
Evidence:
- Pubmed Ids:
- HuGE Navigator Score: 0.342
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
ADRB1
- Genotator Score: 25.0
- 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:
-
TPM1
- Genotator Score: 24.2
- 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:
-
PLN
- Genotator Score: 23.6
- Description: phospholamban
- Chromosome: 6, Band: 6q22.1
- Gene Synonyms: CMD1P, PLB
- Other Descriptions: OTTHUMP00000017092, cardiac phospholamban
- Cross-references: NCBI: 5350, Ensembl: ENSG00000198523
- Evidence:
-
CSRP3
- Genotator Score: 19.2
- 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:
-
ACTC1
- Genotator Score: 19.2
- 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:
-
ACE
- Genotator Score: 18.7
- 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
- Evidence:
-
SMAD3
- Genotator Score: 15.1
- 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
-
Evidence:
- Pubmed Ids:
- HuGE Navigator Score: 0.151
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
CXCL12
- Genotator Score: 15.1
- 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
-
Evidence:
- Pubmed Ids:
- HuGE Navigator Score: 0.151
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
MTHFD1L
- Genotator Score: 15.1
- 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
-
Evidence:
- Pubmed Ids:
- HuGE Navigator Score: 0.151
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
MIA3
- Genotator Score: 15.1
- 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:
-
Evidence:
- Pubmed Ids:
- HuGE Navigator Score: 0.151
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
APC
- Genotator Score: 15.1
- 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
-
Evidence:
- Pubmed Ids:
- HuGE Navigator Score: 0.151
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
LMNA
- Genotator Score: 14.5
- 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:
-
TCAP
- Genotator Score: 14.2
- 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:
-
MYL2
- Genotator Score: 14.2
- 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:
-
MYL3
- Genotator Score: 13.8
- 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:
-
LDB3
- Genotator Score: 12.4
- 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:
- Pubmed Ids: 19472918, 18513529,
- HuGE Navigator Score: 0.12
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: GeneCards, HuGE Navigator
-
TAZ
- Genotator Score: 9.5
- 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:
- Pubmed Ids:
- HuGE Navigator Score: 0.095
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: GeneCards, HuGE Navigator, PharmGKB, Uniprot, WikiGenes
-
TNF
- Genotator Score: 8.9
- 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:
-
DES
- Genotator Score: 8.5
- 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:
-
MYH6
- Genotator Score: 7.7
- 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:
- Pubmed Ids: 15998695,
- HuGE Navigator Score: 0.075
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: GeneCards, HuGE Navigator, PharmGKB
-
TTN
- Genotator Score: 7.6
- 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:
-
CYP11B2
- Genotator Score: 7.1
- 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:
-
AGT
- Genotator Score: 6.9
- 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:
-
TNNC1
- Genotator Score: 6.6
- 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: 0.062
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: GeneCards, HuGE Navigator
-
HLA-DQB1
- Genotator Score: 6.2
- 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:
-
SGCD
- Genotator Score: 5.9
- 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: 0.057
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: GeneCards, HuGE Navigator, WikiGenes
-
VCL
- Genotator Score: 5.5
- 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: 0.053
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: GeneCards, HuGE Navigator
-
ACTN2
- Genotator Score: 5.5
- 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: 0.053
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: GeneCards, HuGE Navigator
-
HFE
- Genotator Score: 5.2
- 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:
-
ADRB2
- Genotator Score: 5.2
- 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:
-
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:
- Pubmed Ids: 19853701, 19442892, 17851694,
- HuGE Navigator Score: 0.042
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
SCN5A
- Genotator Score: 4.8
- 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:
-
EMD
- Genotator Score: 4.5
- 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: 0.045
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: GeneCards, HuGE Navigator
-
ABCC9
- Genotator Score: 4.5
- 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: 0.045
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: GeneCards, HuGE Navigator
-
CTF1
- Genotator Score: 4.5
- 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: 0.045
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: GeneCards, HuGE Navigator
-
ADRA2C
- Genotator Score: 4.2
- 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: 0.034
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
CMA1
- Genotator Score: 4.0
- 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: 0.034
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
SOD2
- Genotator Score: 3.8
- 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: 0.034
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
GLA
- Genotator Score: 3.2
- 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: 0.028
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: GeneCards, HuGE Navigator, WikiGenes
-
HLA-DQA1
- Genotator Score: 3.1
- 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: 0.025
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
EDNRA
- Genotator Score: 3.1
- 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, 16582543, 11601839,
- HuGE Navigator Score: 0.025
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
CTLA4
- Genotator Score: 3.1
- 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: 0.025
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
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
-
ANKRD1
- Genotator Score: 2.9
- 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: 0.025
- 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:
- Pubmed Ids: 11557193, 11803605,
- HuGE Navigator Score: 0.025
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
PRKAG2
- Genotator Score: 2.9
- 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:
- Pubmed Ids: 20031618, 18403758,
- HuGE Navigator Score: 0.025
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: GeneCards, HuGE Navigator, WikiGenes
-
GPX1
- Genotator Score: 2.7
- 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: 0.025
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
IL6
- Genotator Score: 2.7
- 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: 0.025
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
IL10
- Genotator Score: 2.7
- 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:
- Pubmed Ids: 19099482,
- HuGE Navigator Score: 0.025
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator, WikiGenes
-
MYOZ2
- Genotator Score: 2.6
- 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: 19472918, 18591919, 17347475,
- HuGE Navigator Score: 0.02
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: GeneCards, HuGE Navigator
-
TRNL1
- Genotator Score: 2.6
- Description: mitochondrially encoded tRNA leucine 1 (UUA/G)
- Chromosome: MT, Band:
- Gene Synonyms: MTTL1
- Other Descriptions:
- Cross-references: NCBI: 4567, Ensembl:
-
Evidence:
- Pubmed Ids: 15782498, 15351082, 14680844,
- HuGE Navigator Score: 0.02
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
EDN1
- Genotator Score: 2.1
- Description: endothelin 1
- Chromosome: 6, Band: 6p24.1
- Gene Synonyms: ET1, HDLCQ7
- Other Descriptions: OTTHUMP00000016038, OTTHUMP00000039245
- Cross-references: NCBI: 1906, Ensembl: ENSG00000078401
-
Evidence:
- Pubmed Ids: 16582543, 11601839,
- HuGE Navigator Score: 0.017
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: GeneCards, HuGE Navigator
-
GSTT1
- Genotator Score: 2.1
- 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: 0.017
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
CCR5
- Genotator Score: 2.1
- 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: 0.017
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
HLA-DPB1
- Genotator Score: 2.1
- 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: 0.017
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
IL1RN
- Genotator Score: 2.1
- 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: 0.017
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
JPH2
- Genotator Score: 2.1
- 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: 0.017
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: GeneCards, HuGE Navigator
-
NOS3
- Genotator Score: 2.1
- 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,
- HuGE Navigator Score: 0.017
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
SELE
- Genotator Score: 2.1
- 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: 0.017
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
MMP9
- Genotator Score: 2.1
- 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,
- HuGE Navigator Score: 0.017
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
TLR2
- Genotator Score: 2.1
- 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: 0.017
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
GSTM1
- Genotator Score: 2.1
- 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: 0.017
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
IL1B
- Genotator Score: 2.1
- 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, 17002905,
- HuGE Navigator Score: 0.017
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
HLA-A
- Genotator Score: 2.1
- 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: 0.017
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
HLA-B
- Genotator Score: 2.1
- 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: 0.017
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
CCL2
- Genotator Score: 2.1
- 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: 0.017
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
NFKBIL1
- Genotator Score: 2.1
- 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: 0.017
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
NFKB1
- Genotator Score: 1.9
- 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: 0.017
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
IL4
- Genotator Score: 1.9
- 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: 0.017
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
LAMP2
- Genotator Score: 1.9
- 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: 0.017
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: GeneCards, HuGE Navigator, WikiGenes
-
LTA
- Genotator Score: 1.9
- 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: 18190265,
- HuGE Navigator Score: 0.017
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
MBL2
- Genotator Score: 1.9
- 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: 0.017
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
IFNG
- Genotator Score: 1.7
- Description: "interferon, gamma"
- Chromosome: 12, Band: 12q14
- Gene Synonyms: IFG, IFI
- Other Descriptions:
- Cross-references: NCBI: 3458, Ensembl: ENSG00000111537
-
Evidence:
- Pubmed Ids:
- HuGE Navigator Score: 0.017
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
KCNE1
- Genotator Score: 1.7
- 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: 0.017
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
KCNE2
- Genotator Score: 1.7
- 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: 0.017
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
TTR
- Genotator Score: 1.7
- 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:
- HuGE Navigator Score: 0.017
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: GeneCards, HuGE Navigator
-
ADIPOQ
- Genotator Score: 1.7
- 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: 0.017
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
FXN
- Genotator Score: 1.6
- 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: 19772192, 18759347,
- HuGE Navigator Score: 0.012
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator, WikiGenes
-
MEF2A
- Genotator Score: 1.0
- 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: 0.008
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
ADORA3
- Genotator Score: 1.0
- 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: 0.008
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
EDN2
- Genotator Score: 1.0
- 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: 0.008
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
PDLIM3
- Genotator Score: 1.0
- 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: 0.008
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: GeneCards, HuGE Navigator
-
PTPN22
- Genotator Score: 1.0
- 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: 0.008
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
ADORA1
- Genotator Score: 1.0
- 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: 0.008
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
APOE
- Genotator Score: 1.0
- 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: 0.008
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
PPARGC1A
- Genotator Score: 1.0
- 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: 0.008
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
F5
- Genotator Score: 1.0
- 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,
- HuGE Navigator Score: 0.008
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
F2
- Genotator Score: 1.0
- 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,
- HuGE Navigator Score: 0.008
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
CCR2
- Genotator Score: 1.0
- 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: 0.008
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
RYR2
- Genotator Score: 1.0
- 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:
- Pubmed Ids: 16769042,
- HuGE Navigator Score: 0.008
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: GeneCards, HuGE Navigator
-
HLA-DPA1
- Genotator Score: 1.0
- 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: 0.008
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
SLC11A1
- Genotator Score: 1.0
- 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: 0.008
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
ADRB3
- Genotator Score: 1.0
- 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: 0.008
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
DMD
- Genotator Score: 1.0
- 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:
- Pubmed Ids: 16246949,
- HuGE Navigator Score: 0.008
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
IL23R
- Genotator Score: 1.0
- 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: 0.008
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
MYOZ1
- Genotator Score: 1.0
- Description: myozenin 1
- Chromosome: 10, Band: 10q22.1
- Gene Synonyms: CS-2, FATZ, MYOZ
- Other Descriptions: OTTHUMP00000019817, calsarcin-2
- Cross-references: NCBI: 58529, Ensembl: ENSG00000177791
-
Evidence:
- Pubmed Ids: 19472918,
- HuGE Navigator Score: 0.008
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
MYOZ3
- Genotator Score: 1.0
- Description: myozenin 3
- Chromosome: 5, Band: 5q33.1
- Gene Synonyms: CS-3, CS3, FRP3
- Other Descriptions: FATZ related protein 3, calsarcin 3
- Cross-references: NCBI: 91977, Ensembl: ENSG00000164591
-
Evidence:
- Pubmed Ids: 19472918,
- HuGE Navigator Score: 0.008
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
PKP2
- Genotator Score: 1.0
- Description: plakophilin 2
- Chromosome: 12, Band: 12p11
- Gene Synonyms: ARVD9, MGC177501
- Other Descriptions:
- Cross-references: NCBI: 5318, Ensembl: ENSG00000057294
-
Evidence:
- Pubmed Ids: 19427443,
- HuGE Navigator Score: 0.008
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: GeneCards, HuGE Navigator
-
RTN4
- Genotator Score: 1.0
- 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: 0.008
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
TRNT
- Genotator Score: 1.0
- Description: mitochondrially encoded tRNA threonine
- Chromosome: MT, Band:
- Gene Synonyms: MTTT
- Other Descriptions:
- Cross-references: NCBI: 4576, Ensembl:
-
Evidence:
- Pubmed Ids: 14680844,
- HuGE Navigator Score: 0.008
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
EDNRB
- Genotator Score: 1.0
- 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: 0.008
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
SLC22A5
- Genotator Score: 1.0
- 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: 0.008
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
ICAM1
- Genotator Score: 1.0
- 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: 0.008
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
AR
- Genotator Score: 1.0
- 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: 18617186,
- HuGE Navigator Score: 0.008
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
SLC3A1
- Genotator Score: 1.0
- 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: 0.008
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
FLNC
- Genotator Score: 1.0
- Description: "filamin C, gamma (actin binding protein 280)"
- Chromosome: 7, Band: 7q32-q35
- Gene Synonyms: ABP-280, ABP280A, ABPA, ABPL, FLJ10186, FLN2
- Other Descriptions: "ABP-L, gamma filamin, filamin 2, gamma filamin"
- Cross-references: NCBI: 2318, Ensembl: ENSG00000128591
-
Evidence:
- Pubmed Ids: 19472918,
- HuGE Navigator Score: 0.008
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
PLA2G7
- Genotator Score: 1.0
- 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: 0.008
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
IL12B
- Genotator Score: 1.0
- 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: 0.008
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
NPPA
- Genotator Score: 1.0
- 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: 0.008
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: GeneCards, HuGE Navigator
-
SGCZ
- Genotator Score: 1.0
- Description: sarcoglycan zeta
- Chromosome: 8, Band: 8p22
- Gene Synonyms: MGC149397, ZSG1
- Other Descriptions: OTTHUMP00000116054, zeta-sarcoglycan
- Cross-references: NCBI: 137868, Ensembl: ENSG00000185053
-
Evidence:
- Pubmed Ids: 19472918,
- HuGE Navigator Score: 0.008
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
TRIM17
- Genotator Score: 1.0
- Description: tripartite motif-containing 17
- Chromosome: 1, Band: 1q42
- Gene Synonyms: RBCC, RNF16, terf
- Other Descriptions: RING finger protein terf, ring finger protein 16, testis RING finger protein
- Cross-references: NCBI: 51127, Ensembl: ENSG00000162931
-
Evidence:
- Pubmed Ids: 19472918,
- HuGE Navigator Score: 0.008
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
TRIM11
- Genotator Score: 1.0
- Description: tripartite motif-containing 11
- Chromosome: 1, Band: 1q42.13
- Gene Synonyms: BIA1, RNF92
- Other Descriptions:
- Cross-references: NCBI: 81559, Ensembl: ENSG00000154370
-
Evidence:
- Pubmed Ids: 19472918,
- HuGE Navigator Score: 0.008
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
CALM3
- Genotator Score: 1.0
- 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: 0.008
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
FCGR2A
- Genotator Score: 1.0
- 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: 0.008
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
IL2
- Genotator Score: 1.0
- 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: 0.008
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
MICB
- Genotator Score: 1.0
- 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
-
Evidence:
- Pubmed Ids: 16101831,
- HuGE Navigator Score: 0.008
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
MICA
- Genotator Score: 1.0
- 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: 0.008
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
TLR1
- Genotator Score: 1.0
- 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: 0.008
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
TIRAP
- Genotator Score: 1.0
- 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: 0.008
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
TLR5
- Genotator Score: 1.0
- 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: 0.008
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
MMP3
- Genotator Score: 1.0
- 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,
- HuGE Navigator Score: 0.008
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
MMP1
- Genotator Score: 1.0
- 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: 0.008
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
TLR9
- Genotator Score: 1.0
- 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: 0.008
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
MYOCD
- Genotator Score: 1.0
- 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: 0.008
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
IL1A
- Genotator Score: 1.0
- 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: 17002905,
- HuGE Navigator Score: 0.008
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
EGFR
- Genotator Score: 1.0
- 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: 0.008
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
HLA-C
- Genotator Score: 1.0
- 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: 0.008
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
HLA-G
- Genotator Score: 1.0
- 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: 0.008
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
HSPB6
- Genotator Score: 1.0
- 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: 0.008
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
NEURL2
- Genotator Score: 1.0
- Description: neuralized homolog 2 (Drosophila)
- Chromosome: 20, Band: 20q13.12
- Gene Synonyms: C20orf163, MGC125934, MGC125935, OZZ, Ozz-E3
- Other Descriptions: OTTHUMP00000031186, neuralized-like 2, neuralized-like protein 2
- Cross-references: NCBI: 140825, Ensembl: ENSG00000124257
-
Evidence:
- Pubmed Ids: 19472918,
- HuGE Navigator Score: 0.008
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
BAT1
- Genotator Score: 1.0
- 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: 0.008
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
CYP19A1
- Genotator Score: 1.0
- 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: 0.008
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
FKTN
- Genotator Score: 1.0
- 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: 0.008
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: GeneCards, HuGE Navigator
-
DSG2
- Genotator Score: 1.0
- 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:
- Pubmed Ids: 18678517,
- HuGE Navigator Score: 0.008
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: GeneCards, HuGE Navigator
-
HP
- Genotator Score: 1.0
- 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: 0.008
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
CXADR
- Genotator Score: 1.0
- 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
-
Evidence:
- Pubmed Ids: 19100061,
- HuGE Navigator Score: 0.008
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: GeneCards, HuGE Navigator
-
CAT
- Genotator Score: 1.0
- 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: 0.008
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
APLN
- Genotator Score: 1.0
- 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: 0.008
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: GeneCards, HuGE Navigator
-
ESR1
- Genotator Score: 1.0
- 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: 0.008
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
KTN1
- Genotator Score: 1.0
- Description: kinectin 1 (kinesin receptor)
- Chromosome: 14, Band: 14q22.1
- Gene Synonyms: CG1, KIAA0004, KNT, MGC133337, MU-RMS-40.19
- Other Descriptions: CG-1 antigen, OTTHUMP00000179010, OTTHUMP00000179011, OTTHUMP00000179012, kinectin 1, kinesin receptor
- Cross-references: NCBI: 3895, Ensembl: ENSG00000126777
-
Evidence:
- Pubmed Ids: 19472918,
- HuGE Navigator Score: 0.008
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
ESR2
- Genotator Score: 1.0
- 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: 0.008
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
CHRM2
- Genotator Score: 1.0
- 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: 0.008
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: GeneCards, HuGE Navigator
-
ITGB1BP2
- Genotator Score: 1.0
- 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: 0.008
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: GeneCards, HuGE Navigator
-
IRX4
- Genotator Score: 1.0
- 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: 0.008
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
ENO3
- Genotator Score: 1.0
- Description: "enolase 3 (beta, muscle)"
- Chromosome: 17, Band: 17pter-p11
- Gene Synonyms: MSE
- Other Descriptions: 2-phospho-D-glycerate hydrolyase, OTTHUMP00000125242, enolase 3, muscle specific enolase, skeletal muscle enolase
- Cross-references: NCBI: 2027, Ensembl: ENSG00000108515
-
Evidence:
- Pubmed Ids: 19472918,
- HuGE Navigator Score: 0.008
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
PAFAH1B1
- Genotator Score: 1.0
- 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: 0.008
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
HRC
- Genotator Score: 1.0
- 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: 0.008
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: GeneCards, HuGE Navigator
-
PTPRC
- Genotator Score: 1.0
- 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: 0.008
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
KL
- Genotator Score: 1.0
- Description: klotho
- Chromosome: 13, Band: 13q12
- Gene Synonyms:
- Other Descriptions: OTTHUMP00000018796
- Cross-references: NCBI: 9365, Ensembl: ENSG00000133116
-
Evidence:
- Pubmed Ids: 19246844,
- HuGE Navigator Score: 0.008
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
KCNN3
- Genotator Score: 1.0
- Description: "potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3"
- Chromosome: 1, Band: 1q21.3
- Gene Synonyms: KCa2.3, SK3, SKCA3, hSK3
- Other Descriptions: OTTHUMP00000035369, OTTHUMP00000042458, OTTHUMP00000042459, small conductance calcium-activated potassium channel protein 3
- Cross-references: NCBI: 3782, Ensembl: ENSG00000143603
-
Evidence:
- Pubmed Ids: 19472917,
- HuGE Navigator Score: 0.008
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
ACE2
- Genotator Score: 1.0
- 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: 0.008
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: GeneCards, HuGE Navigator
-
DSC2
- Genotator Score: 1.0
- 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:
- Pubmed Ids: 18678517,
- HuGE Navigator Score: 0.008
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: GeneCards, HuGE Navigator
-
KCNE1L
- Genotator Score: 0.8
- 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: 0.008
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
MASP2
- Genotator Score: 0.8
- 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: 0.008
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
STAT5B
- Genotator Score: 0.8
- 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: 0.008
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
AGTR2
- Genotator Score: 0.8
- 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: 0.008
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: GeneCards, HuGE Navigator
-
MIR499
- Genotator Score: 0.8
- 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: 0.008
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
BRAP
- Genotator Score: 0.8
- 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: 0.008
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
RETN
- Genotator Score: 0.8
- 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: 0.008
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
CX3CR1
- Genotator Score: 0.8
- 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: 0.008
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
ENPP1
- Genotator Score: 0.8
- 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: 0.008
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
KRAS
- Genotator Score: 0.8
- 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:
- HuGE Navigator Score: 0.008
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
NKX2-5
- Genotator Score: 0.8
- 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: 0.008
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
KLF10
- Genotator Score: 0.8
- 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: 0.008
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
PPARA
- Genotator Score: 0.8
- 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: 0.008
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
IL4R
- Genotator Score: 0.8
- 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: 0.008
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
CBR3
- Genotator Score: 0.8
- 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: 0.008
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
PSEN1
- Genotator Score: 0.8
- 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: 0.008
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator, WikiGenes
-
KCNH2
- Genotator Score: 0.8
- 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: 0.008
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
CBR1
- Genotator Score: 0.8
- 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: 0.008
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
KCNE3
- Genotator Score: 0.8
- 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: 0.008
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
KCNE4
- Genotator Score: 0.8
- 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: 0.008
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
STAT3
- Genotator Score: 0.8
- 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: 0.008
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
MIR146A
- Genotator Score: 0.8
- 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: 0.008
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
OGG1
- Genotator Score: 0.8
- 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: 0.008
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
HTR2A
- Genotator Score: 0.8
- 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: 0.008
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
SLC6A4
- Genotator Score: 0.8
- 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:
- HuGE Navigator Score: 0.008
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
TLR3
- Genotator Score: 0.8
- 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: 0.008
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
NUDT1
- Genotator Score: 0.8
- 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: 0.008
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
ADORA2A
- Genotator Score: 0.8
- 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: 0.008
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
MIR196A2
- Genotator Score: 0.8
- 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: 0.008
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
PTPN1
- Genotator Score: 0.8
- 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: 0.008
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
KCNQ1
- Genotator Score: 0.8
- 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: 0.008
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
BOP
- Genotator Score: 0.8
- Description:
- Chromosome: 6, Band: 6q16.3-q22.1
- Gene Synonyms:
- Other Descriptions:
- Cross-references: NCBI: 100294715, Ensembl:
-
Evidence:
- Pubmed Ids:
- HuGE Navigator Score: 0.008
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
MURC
- Genotator Score: 0.8
- 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: 0.008
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
FRMD4B
- Genotator Score: 0.8
- 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: 0.008
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
TRNV
- Genotator Score: 0.5
- 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: 0.003
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
NPPB
- Genotator Score: 0.5
- 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: 0.003
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: GeneCards, HuGE Navigator
-
SLC6A2
- Genotator Score: 0.5
- 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: 0.003
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
ADRA1D
- Genotator Score: 0.5
- 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: 0.003
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
ND1
- Genotator Score: 0.5
- Description: mitochondrially encoded NADH dehydrogenase 1
- Chromosome: MT, Band:
- Gene Synonyms: MTND1
- Other Descriptions: NADH dehydrogenase subunit 1
- Cross-references: NCBI: 4535, Ensembl:
-
Evidence:
- Pubmed Ids: 14680844,
- HuGE Navigator Score: 0.003
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
CMYA5
- Genotator Score: 0.3
- 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:
- Pubmed Ids:
- HuGE Navigator Score: 0.003
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: GeneCards, HuGE Navigator, PharmGKB
-
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:
- Pubmed Ids:
- HuGE Navigator Score: None
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: GeneCards
-
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
- LGMD1D
- ATP6
-
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
-
JUP
- Genotator Score: 0.0
- 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:
- Pubmed Ids:
- HuGE Navigator Score: None
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: GeneCards
-
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:
-
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:
- Pubmed Ids:
- HuGE Navigator Score: None
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: GeneCards
-
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
-
ADRBK1
- Genotator Score: 0.0
- 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:
- HuGE Navigator Score: None
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: GeneCards
-
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:
-
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
-
COX3
- Genotator Score: 0.0
- Description: mitochondrially encoded cytochrome c oxidase III
- Chromosome: MT, Band:
- Gene Synonyms: COIII, MTCO3
- Other Descriptions: cytochrome c oxidase subunit III
- Cross-references: NCBI: 4514, Ensembl:
-
Evidence:
- Pubmed Ids:
- HuGE Navigator Score: None
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: Uniprot
-
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
-
TBX20
- Genotator Score: 0.0
- Description: T-box 20
- Chromosome: 7, Band: 7p15-p14
- Gene Synonyms: ASD4
- Other Descriptions: T-box protein 20, T-box transcription factor TBX20
- Cross-references: NCBI: 57057, Ensembl: ENSG00000164532
-
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:
- Pubmed Ids:
- HuGE Navigator Score: None
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: GeneCards
-
GJA1
- Genotator Score: 0.0
- Description: "gap junction protein, alpha 1, 43kDa"
- Chromosome: 6, Band: 6q21-q23.2
- Gene Synonyms: CX43, DFNB38, GJAL, ODDD
- Other Descriptions: "OTTHUMP00000017111, connexin 43, gap junction 43 kDa heart protein, gap junction protein, alpha-like"
- Cross-references: NCBI: 2697, Ensembl: ENSG00000152661
-
Evidence:
- Pubmed Ids:
- HuGE Navigator Score: None
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: Uniprot
-
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:
- Pubmed Ids:
- HuGE Navigator Score: None
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: GeneCards
-
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:
- 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: Uniprot
- CMD1K
- CMD1H
-
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:
- Pubmed Ids:
- HuGE Navigator Score: None
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: GeneCards
-
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:
- Pubmed Ids:
- HuGE Navigator Score: None
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: GeneCards
-
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:
- Pubmed Ids:
- HuGE Navigator Score: None
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: GeneCards
-
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:
- Pubmed Ids:
- HuGE Navigator Score: None
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: GeneCards
- CMD2A
-
PSEN2
- Genotator Score: 0.0
- 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: 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:
- Pubmed Ids:
- HuGE Navigator Score: None
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: GeneCards
-
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
-
GNPTAB
- Genotator Score: 0.0
- Description: "N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits"
- Chromosome: 12, Band: 12q23.2
- Gene Synonyms: DKFZp762B226, GNPTA, ICD, KIAA1208, MGC4170
- Other Descriptions: GlcNAc phosphotransferase, N-acetylglucosamine-1-phosphate transferase, UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosamine, alpha-beta GlcNAc-1-phosphotransferase, glucosamine (UDP-N-acetyl)-lysosomal-enzyme N-acetylglucosamine phosphotransferase (mucolipidoses II & III)
- Cross-references: NCBI: 79158, Ensembl: ENSG00000111670
-
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
- RBM20
-
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
-
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:
- Pubmed Ids:
- HuGE Navigator Score: None
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: GeneCards
-
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
-
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
-
GATA4
- Genotator Score: 0.0
- 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:
- HuGE Navigator Score: None
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: GeneCards
-
DSP
- Genotator Score: 0.0
- 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:
- Pubmed Ids:
- HuGE Navigator Score: None
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: GeneCards
-
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:
- Pubmed Ids:
- HuGE Navigator Score: None
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: GeneCards
-
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
- CMR1A
-
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
- XRS
- CMR2A
-
TPSAB1
- Genotator Score: 0.0
- Description: tryptase alpha/beta 1
- Chromosome: 16, Band: 16p13.3
- Gene Synonyms: TPS1, TPS2, TPSB1
- Other Descriptions: mast cell alpha II tryptase, mast cell beta I tryptase, tryptase alpha II, tryptase beta 1, tryptase beta I, tryptase-I, tryptase-III
- Cross-references: NCBI: 7177, Ensembl: ENSG00000172236
-
Evidence:
- Pubmed Ids:
- HuGE Navigator Score: None
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: WikiGenes
- CMR3A
-
ND4
- Genotator Score: 0.0
- Description: mitochondrially encoded NADH dehydrogenase 4
- Chromosome: MT, Band:
- Gene Synonyms: MTND4
- Other Descriptions: NADH dehydrogenase subunit 4
- Cross-references: NCBI: 4538, Ensembl:
-
Evidence:
- Pubmed Ids:
- HuGE Navigator Score: None
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: Uniprot
-
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
-
ND5
- Genotator Score: 0.0
- Description: mitochondrially encoded NADH dehydrogenase 5
- Chromosome: MT, Band:
- Gene Synonyms: MTND5
- Other Descriptions: NADH dehydrogenase subunit 5
- Cross-references: NCBI: 4540, Ensembl:
-
Evidence:
- Pubmed Ids:
- HuGE Navigator Score: None
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: Uniprot
-
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:
- Pubmed Ids:
- HuGE Navigator Score: None
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: GeneCards
-
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:
- Pubmed Ids:
- HuGE Navigator Score: None
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: GeneCards
-
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:
- Pubmed Ids:
- HuGE Navigator Score: None
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: GeneCards
-
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:
-
XIRP2
- Genotator Score: 0.0
- 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:
-
GAA
- Genotator Score: 0.0
- 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:
- HuGE Navigator Score: None
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: GeneCards
- CYTB
-
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:
- Pubmed Ids:
- HuGE Navigator Score: None
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: GeneCards
-
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
-
HAND1
- Genotator Score: 0.0
- Description: heart and neural crest derivatives expressed 1
- Chromosome: 5, Band: 5q33
- Gene Synonyms: Hxt, Thing1, bHLHa27, eHand
- Other Descriptions: basic helix-loop-helix transcription factor HAND1
- Cross-references: NCBI: 9421, Ensembl: ENSG00000113196
-
Evidence:
- Pubmed Ids:
- HuGE Navigator Score: None
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: WikiGenes
-
SCO2
- Genotator Score: 0.0
- 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:
- Pubmed Ids:
- HuGE Navigator Score: None
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: GeneCards
-
TMEM43
- Genotator Score: 0.0
- 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:
- HuGE Navigator Score: None
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: GeneCards