Sudden Death
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Genes associated with Sudden Death:-
KCNH2
- Genotator Score: 105.2
- Description: "potassium voltage-gated channel, subfamily H (eag-related), member 2"
- Chromosome: 7, Band: 7q35-q36
- Gene Synonyms: ERG1, HERG, HERG1, Kv11.1, LQT2, SQT1
- Other Descriptions: "ether-a-go-go-related potassium channel protein, voltage-gated potassium channel, subfamily H, member 2"
- Cross-references: NCBI: 3757, Ensembl: ENSG00000055118
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Evidence:
- Pubmed Ids: 19716085, 19305408, 19322600, 19149796, 19019189, 18808722, 18596570, 17905336, 17429906, 17227789, 17239714, 17210839, 16771953, 16487842, 16132053, 15840476, 15534720, 15851119, 15051636, 12849668, 12402336, 11743032, 11289718, 11136691,
- HuGE Navigator Score: 1.014
- GAD counts: yes=0, no=1, null=1
- Evidence Sources: GeneCards, HuGE Navigator, GenAtlas, WikiGenes, GAD
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KCNQ1
- Genotator Score: 105.0
- 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
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Evidence:
- Pubmed Ids: 19716085, 19305408, 19322600, 19149796, 18808722, 18651418, 18596570, 17905336, 17544529, 17470695, 17210839, 16487842, 16132053, 15840476, 15534720, 15851119, 15051636, 14678125, 12849668, 12402336, 11743032, 11289718, 11136691,
- HuGE Navigator Score: 1.004
- GAD counts: yes=0, no=0, null=1
- Evidence Sources: GeneCards, HuGE Navigator, GAD
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SCN5A
- Genotator Score: 81.7
- 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:
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Evidence:
- Pubmed Ids: 20137763, 20129283, 20110800, 20108749, 20004937, 19822451, 19716085, 19305408, 19322600, 19251209, 19149796, 18674739, 18596570, 18452875, 18355654, 17905336, 17544529, 17210839, 16771953, 16453024, 16415376, 16132053, 16061744, 15840476, 15851320, 15534720, 15338453, 15851119, 15051636, 11743032, 11289718, 11136691,
- HuGE Navigator Score: 0.723
- GAD counts: yes=3, no=0, null=1
- Evidence Sources: OMIM, GeneCards, HuGE Navigator, GenAtlas, PharmGKB, GAD
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KCNE1
- Genotator Score: 55.1
- 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:
-
KCNE2
- Genotator Score: 38.9
- 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:
-
NOS1AP
- Genotator Score: 31.9
- Description: nitric oxide synthase 1 (neuronal) adaptor protein
- Chromosome: 1, Band: 1q23.3
- Gene Synonyms: 6330408P19Rik, CAPON, MGC138500
- Other Descriptions: C-terminal PDZ domain ligand of neuronal nitric oxide synthase (CAPON), OTTHUMP00000025714, ligand of neuronal nitric oxide synthase with carboxyl-terminal PDZ domain
- Cross-references: NCBI: 9722, Ensembl: ENSG00000198929
- Evidence:
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PLN
- Genotator Score: 24.0
- Description: phospholamban
- Chromosome: 6, Band: 6q22.1
- Gene Synonyms: CMD1P, PLB
- Other Descriptions: OTTHUMP00000017092, cardiac phospholamban
- Cross-references: NCBI: 5350, Ensembl: ENSG00000198523
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Evidence:
- Pubmed Ids: 19305408,
- HuGE Navigator Score: 0.238
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
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MYBPC3
- Genotator Score: 19.5
- Description: "myosin binding protein C, cardiac"
- Chromosome: 11, Band: 11p11.2
- Gene Synonyms: CMH4, DKFZp779E1762, FHC, MYBP-C
- Other Descriptions: "myosin-binding protein C, cardiac"
- Cross-references: NCBI: 4607, Ensembl:
- Evidence:
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F5
- Genotator Score: 16.7
- 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:
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LMNA
- Genotator Score: 12.3
- 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
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Evidence:
- Pubmed Ids: 15551023,
- HuGE Navigator Score: 0.121
- GAD counts: yes=0, no=0, null=1
- Evidence Sources: GeneCards, HuGE Navigator, GAD
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SLC6A4
- Genotator Score: 11.1
- 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:
-
LIG3
- Genotator Score: 10.5
- Description: "ligase III, DNA, ATP-dependent"
- Chromosome: 17, Band: 17q11.2-q12
- Gene Synonyms: LIG2
- Other Descriptions: "ligase II, DNA, ATP-dependent, polydeoxyribonucleotide synthase"
- Cross-references: NCBI: 3980, Ensembl: ENSG00000005156
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Evidence:
- Pubmed Ids: 19305408,
- HuGE Navigator Score: 0.103
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
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RFFL
- Genotator Score: 10.5
- Description: ring finger and FYVE-like domain containing 1
- Chromosome: 17, Band: 17q12
- Gene Synonyms: CARP2, RIFIFYLIN, RNF189, RNF34L
- Other Descriptions: FYVE-RING finger protein SAKURA, caspases-8 and -10-associated RING finger protein 2, fring, rififylin
- Cross-references: NCBI: 117584, Ensembl: ENSG00000092871
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Evidence:
- Pubmed Ids: 19305408,
- HuGE Navigator Score: 0.103
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
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RNF207
- Genotator Score: 10.5
- Description: ring finger protein 207
- Chromosome: 1, Band: 1p36.31
- Gene Synonyms: C1orf188, FLJ32096, FLJ46380, FLJ46593
- Other Descriptions: OTTHUMP00000001377
- Cross-references: NCBI: 388591, Ensembl: ENSG00000158286
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Evidence:
- Pubmed Ids: 19305408,
- HuGE Navigator Score: 0.103
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
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LITAF
- Genotator Score: 10.5
- Description: lipopolysaccharide-induced TNF factor
- Chromosome: 16, Band: 16p13.13
- Gene Synonyms: FLJ38636, MGC116698, MGC116700, MGC116701, MGC125274, MGC125275, MGC125276, PIG7, SIMPLE, TP53I7
- Other Descriptions: LPS-induced TNF-alpha factor, lipopolysaccharide-induced TNF-alpha factor, lipopolysaccharide-induced tumor necrosis factor-alpha factor, p53-induced gene 7 protein, small integral membrane protein of lysosome/late endosome, tumor protein p53 inducible protein 7
- Cross-references: NCBI: 9516, Ensembl: ENSG00000189067
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Evidence:
- Pubmed Ids: 19305408,
- HuGE Navigator Score: 0.103
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
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NDRG4
- Genotator Score: 10.5
- Description: NDRG family member 4
- Chromosome: 16, Band: 16q21-q22.1
- Gene Synonyms: DKFZp686I1615, FLJ30586, FLJ42011, KIAA1180, MGC19632, SMAP-8
- Other Descriptions: smooth muscle-associated protein 8
- Cross-references: NCBI: 65009, Ensembl: ENSG00000103034
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Evidence:
- Pubmed Ids: 19305408,
- HuGE Navigator Score: 0.103
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
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GINS3
- Genotator Score: 10.5
- Description: GINS complex subunit 3 (Psf3 homolog)
- Chromosome: 16, Band: 16q21
- Gene Synonyms: FLJ13912, PSF3
- Other Descriptions: GINS complex subunit 3
- Cross-references: NCBI: 64785, Ensembl: ENSG00000181938
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Evidence:
- Pubmed Ids: 19305408,
- HuGE Navigator Score: 0.103
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
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ADRB2
- Genotator Score: 10.4
- 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
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Evidence:
- Pubmed Ids: 18534365, 17223428, 16618831,
- HuGE Navigator Score: 0.098
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
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ACE
- Genotator Score: 10.3
- 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:
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SCN10A
- Genotator Score: 10.3
- Description: "sodium channel, voltage-gated, type X, alpha subunit"
- Chromosome: 3, Band: 3p22-p21
- Gene Synonyms: Nav1.8, PN3, SNS, hPN3
- Other Descriptions: "sodium channel, voltage-gated, type X, alpha, sodium channel, voltage-gated, type X, alpha polypeptide"
- Cross-references: NCBI: 6336, Ensembl: ENSG00000185313
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Evidence:
- Pubmed Ids:
- HuGE Navigator Score: 0.103
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
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BAZ2B
- Genotator Score: 10.3
- Description: "bromodomain adjacent to zinc finger domain, 2B"
- Chromosome: 2, Band: 2q23-q24
- Gene Synonyms: DKFZp434H071, DKFZp762I0516, FLJ45644, WALp4
- Other Descriptions:
- Cross-references: NCBI: 29994, Ensembl: ENSG00000123636
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Evidence:
- Pubmed Ids:
- HuGE Navigator Score: 0.103
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
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CSMD2
- Genotator Score: 8.9
- Description: CUB and Sushi multiple domains 2
- Chromosome: 1, Band: 1p35.1-p34.3
- Gene Synonyms: KIAA1884, dJ1007G16.1, dJ1007G16.2, dJ947L8.1
- Other Descriptions: CUB and Sushi (SCR repeat) domain
- Cross-references: NCBI: 114784, Ensembl: ENSG00000121904
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Evidence:
- Pubmed Ids:
- HuGE Navigator Score: 0.089
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
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IL10
- Genotator Score: 7.9
- 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:
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ACADM
- Genotator Score: 7.1
- Description: "acyl-Coenzyme A dehydrogenase, C-4 to C-12 straight chain"
- Chromosome: 1, Band: 1p31
- Gene Synonyms: ACAD1, FLJ18227, FLJ93013, FLJ99884, MCAD, MCADH
- Other Descriptions: OTTHUMP00000011345, medium-chain acyl-CoA dehydrogenase, medium-chain specific acyl-CoA dehydrogenase
- Cross-references: NCBI: 34, Ensembl: ENSG00000117054
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Evidence:
- Pubmed Ids: 11263545,
- HuGE Navigator Score: 0.069
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: GeneCards, HuGE Navigator, GenAtlas
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MYH7
- Genotator Score: 6.9
- 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:
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TNNT2
- Genotator Score: 6.9
- Description: troponin T type 2 (cardiac)
- Chromosome: 1, Band: 1q32
- Gene Synonyms: CMH2, CMPD2, MGC3889, RCM3, TnTC, cTnT
- Other Descriptions: "OTTHUMP00000033864, OTTHUMP00000033867, cardiomyopathy, dilated 1D (autosomal dominant), cardiomyopathy, hypertrophic 2, troponin T type 2, cardiac, troponin T, cardiac muscle, troponin T2, cardiac"
- Cross-references: NCBI: 7139, Ensembl: ENSG00000118194
- Evidence:
-
ESR1
- Genotator Score: 6.8
- Description: estrogen receptor 1
- Chromosome: 6, Band: 6q25.1
- Gene Synonyms: DKFZp686N23123, ER, ESR, ESRA, Era, NR3A1
- Other Descriptions: OTTHUMP00000017718, OTTHUMP00000017719, estrogen receptor alpha
- Cross-references: NCBI: 2099, Ensembl: ENSG00000091831
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Evidence:
- Pubmed Ids: 17558892, 11894143,
- HuGE Navigator Score: 0.064
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
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ADRB1
- Genotator Score: 6.1
- 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:
-
ITGB3
- Genotator Score: 5.7
- Description: "integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)"
- Chromosome: 17, Band: 17q21.32
- Gene Synonyms: CD61, GP3A, GPIIIa
- Other Descriptions: "integrin beta chain, beta 3, platelet glycoprotein IIIa"
- Cross-references: NCBI: 3690, Ensembl: ENSG00000056345
- Evidence:
-
CACNA1C
- Genotator Score: 5.4
- Description: "calcium channel, voltage-dependent, L type, alpha 1C subunit"
- Chromosome: 12, Band: 12p13.3
- Gene Synonyms: CACH2, CACN2, CACNL1A1, CCHL1A1, CaV1.2, MGC120730, TS
- Other Descriptions: "DHPR, alpha-1 subunit, calcium channel, L type, alpha 1 polypeptide, isoform 1, cardic muscle, calcium channel, cardic dihydropyridine-sensitive, alpha-1 subunit, voltage-gated L-type calcium channel Cav1.2 alpha 1 subunit, splice variant 10*, voltage-gated calcium channel alpha subunit Cav1.2"
- Cross-references: NCBI: 775, Ensembl:
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Evidence:
- Pubmed Ids:
- HuGE Navigator Score: 0.054
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator, GenAtlas
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MAOA
- Genotator Score: 5.3
- Description: monoamine oxidase A
- Chromosome: X, Band: Xp11.3
- Gene Synonyms:
- Other Descriptions: OTTHUMP00000023165
- Cross-references: NCBI: 4128, Ensembl: ENSG00000189221
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Evidence:
- Pubmed Ids: 18810510, 18387780,
- HuGE Navigator Score: 0.049
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
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AGTR1
- Genotator Score: 4.7
- 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
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Evidence:
- Pubmed Ids: 19716087, 17223428, 16105049, 11696658,
- HuGE Navigator Score: 0.039
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
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IL6
- Genotator Score: 4.6
- 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:
-
IL1RN
- Genotator Score: 4.5
- 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
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Evidence:
- Pubmed Ids: 20092400, 20080142, 15325407,
- HuGE Navigator Score: 0.039
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
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TNF
- Genotator Score: 4.5
- 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
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Evidence:
- Pubmed Ids: 18633768, 18571009, 11257271,
- HuGE Navigator Score: 0.039
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: GeneCards, HuGE Navigator
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ZNF385B
- Genotator Score: 4.4
- Description: zinc finger protein 385B
- Chromosome: 2, Band: 2q31.2-q31.3
- Gene Synonyms: FLJ25270, ZFN533, ZNF533
- Other Descriptions: zinc finger protein 533
- Cross-references: NCBI: 151126, Ensembl: ENSG00000144331
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Evidence:
- Pubmed Ids:
- HuGE Navigator Score: 0.044
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
GPR37L1
- Genotator Score: 4.4
- Description: G protein-coupled receptor 37 like 1
- Chromosome: 1, Band: 1q32.1
- Gene Synonyms: ET(B)R-LP-2, ETBR-LP-2
- Other Descriptions: G-protein coupled receptor 37 like 1, OTTHUMP00000034103, endothelin type b receptor-like protein 2
- Cross-references: NCBI: 9283, Ensembl: ENSG00000170075
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Evidence:
- Pubmed Ids:
- HuGE Navigator Score: 0.044
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
DEGS2
- Genotator Score: 4.4
- Description: "degenerative spermatocyte homolog 2, lipid desaturase (Drosophila)"
- Chromosome: 14, Band: 14q32.2
- Gene Synonyms: C14orf66, DES2, FADS8
- Other Descriptions: "degenerative spermatocyte homolog 2, lipid desaturase, sphingolipid C4-hydroxylase/delta 4-desaturase, sphingolipid delta 4 desaturase/C-4 hydroxylase, sphingolipid delta(4)-desaturase/C4-hydroxylase"
- Cross-references: NCBI: 123099, Ensembl: ENSG00000168350
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Evidence:
- Pubmed Ids:
- HuGE Navigator Score: 0.044
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
LIN9
- Genotator Score: 4.4
- Description: lin-9 homolog (C. elegans)
- Chromosome: 1, Band: 1q42.12
- Gene Synonyms: BARA, BARPsv, Lin-9, TGS, TGS1
- Other Descriptions: TUDOR gene similar, lin-9 homolog, rb related pathway actor, type I interferon receptor beta chain-associated protein
- Cross-references: NCBI: 286826, Ensembl: ENSG00000183814
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Evidence:
- Pubmed Ids:
- HuGE Navigator Score: 0.044
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
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GRIA1
- Genotator Score: 4.4
- Description: "glutamate receptor, ionotropic, AMPA 1"
- Chromosome: 5, Band: 5q33|5q31.1
- Gene Synonyms: GLUH1, GLUR1, GLURA, HBGR1, MGC133252
- Other Descriptions: AMPA 1
- Cross-references: NCBI: 2890, Ensembl: ENSG00000155511
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Evidence:
- Pubmed Ids:
- HuGE Navigator Score: 0.044
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
AP1G2
- Genotator Score: 4.4
- Description: "adaptor-related protein complex 1, gamma 2 subunit"
- Chromosome: 14, Band: 14q11.2
- Gene Synonyms: G2AD
- Other Descriptions: "clathrin-associated/assembly/adaptor protein, large, gamma-2, gamma2-adaptin"
- Cross-references: NCBI: 8906, Ensembl: ENSG00000213983
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Evidence:
- Pubmed Ids:
- HuGE Navigator Score: 0.044
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
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ZNF592
- Genotator Score: 4.4
- Description: zinc finger protein 592
- Chromosome: 15, Band: 15q25.3
- Gene Synonyms: KIAA0211, MGC138437, MGC138439
- Other Descriptions:
- Cross-references: NCBI: 9640, Ensembl: ENSG00000166716
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Evidence:
- Pubmed Ids:
- HuGE Navigator Score: 0.044
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
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KCTD1
- Genotator Score: 4.4
- Description: potassium channel tetramerisation domain containing 1
- Chromosome: 18, Band: 18q11.2
- Gene Synonyms: C18orf5
- Other Descriptions: OTTHUMP00000162784
- Cross-references: NCBI: 284252, Ensembl: ENSG00000134504
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Evidence:
- Pubmed Ids:
- HuGE Navigator Score: 0.044
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
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CXADR
- Genotator Score: 4.4
- 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:
- HuGE Navigator Score: 0.044
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
GPC5
- Genotator Score: 4.4
- Description: glypican 5
- Chromosome: 13, Band: 13q32
- Gene Synonyms:
- Other Descriptions: OTTHUMP00000018551, bA93M14.1, glypican proteoglycan 5
- Cross-references: NCBI: 2262, Ensembl: ENSG00000179399
-
Evidence:
- Pubmed Ids:
- HuGE Navigator Score: 0.044
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
ACYP2
- Genotator Score: 4.4
- Description: "acylphosphatase 2, muscle type"
- Chromosome: 2, Band: 2p16.2
- Gene Synonyms: ACYM, ACYP
- Other Descriptions: acylphosphatase 2, acylphosphate phosphohydrolase
- Cross-references: NCBI: 98, Ensembl: ENSG00000170634
-
Evidence:
- Pubmed Ids:
- HuGE Navigator Score: 0.044
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
B4GALNT3
- Genotator Score: 4.4
- Description: "beta-1,4-N-acetyl-galactosaminyl transferase 3"
- Chromosome: 12, Band: 12p13.33
- Gene Synonyms: FLJ16224, FLJ40362
- Other Descriptions: "Beta4GalNAc-T3, N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N- acetylgalactosaminyltransferase, NGalNAc-T2, beta 1,4-N-acetylgalactosaminyltransferase-transferase 3"
- Cross-references: NCBI: 283358, Ensembl: ENSG00000139044
-
Evidence:
- Pubmed Ids:
- HuGE Navigator Score: 0.044
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
APOE
- Genotator Score: 3.6
- 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: 20031552, 18280677, 17537154,
- HuGE Navigator Score: 0.03
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: GeneCards, HuGE Navigator
-
PHOX2B
- Genotator Score: 3.6
- Description: paired-like homeobox 2b
- Chromosome: 4, Band: 4p12
- Gene Synonyms: NBPhox, PMX2B
- Other Descriptions: PHOX2B homeodomain protein, neuroblastoma paired-type homeobox protein, paired mesoderm homeobox 2b
- Cross-references: NCBI: 8929, Ensembl: ENSG00000109132
- Evidence:
-
F2
- Genotator Score: 3.6
- Description: coagulation factor II (thrombin)
- Chromosome: 11, Band: 11p11
- Gene Synonyms: PT
- Other Descriptions: coagulation factor II, prothrombin B-chain, serine protease
- Cross-references: NCBI: 2147, Ensembl: ENSG00000180210
-
Evidence:
- Pubmed Ids: 15813553, 12088785, 11095555,
- HuGE Navigator Score: 0.03
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
NOS3
- Genotator Score: 3.6
- 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: 16683402, 15846275, 12226742,
- HuGE Navigator Score: 0.03
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
AGT
- Genotator Score: 3.6
- 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:
- Pubmed Ids: 19716087, 17223428, 16105049,
- HuGE Navigator Score: 0.03
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
ADRA2B
- Genotator Score: 3.6
- Description: "adrenergic, alpha-2B-, receptor"
- Chromosome: 2, Band: 2p13-q13
- Gene Synonyms: ADRA2L1, ADRA2RL1, ADRARL1, ALPHA2BAR
- Other Descriptions: "ADRA2B adrenergic, alpha-2B-, receptor, G-protein coupled receptor, adrenergic receptor alpha 2B, alpha-2-adrenergic receptor-like 1, alpha-2B-adrenergic receptor"
- Cross-references: NCBI: 151, Ensembl: ENSG00000222040
-
Evidence:
- Pubmed Ids: 19781422, 19463119, 12535806,
- HuGE Navigator Score: 0.03
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
RYR2
- Genotator Score: 3.4
- 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:
-
PKP2
- Genotator Score: 3.4
- Description: plakophilin 2
- Chromosome: 12, Band: 12p11
- Gene Synonyms: ARVD9, MGC177501
- Other Descriptions:
- Cross-references: NCBI: 5318, Ensembl: ENSG00000057294
-
Evidence:
- Pubmed Ids: 20129281, 19427443,
- HuGE Navigator Score: 0.03
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator, GenAtlas
-
G6PC
- Genotator Score: 3.4
- Description: "glucose-6-phosphatase, catalytic subunit"
- Chromosome: 17, Band: 17q21
- Gene Synonyms: G6PT, GSD1, GSD1a, MGC163350
- Other Descriptions:
- Cross-references: NCBI: 2538, Ensembl: ENSG00000131482
-
Evidence:
- Pubmed Ids: 20004937, 15918042,
- HuGE Navigator Score: 0.02
- GAD counts: yes=1, no=0, null=0
- Evidence Sources: HuGE Navigator, GAD
-
TH
- Genotator Score: 3.4
- Description: tyrosine hydroxylase
- Chromosome: 11, Band: 11p15.5
- Gene Synonyms: TYH
- Other Descriptions: OTTHUMP00000011225, OTTHUMP00000011226, tyrosine 3-monooxygenase
- Cross-references: NCBI: 7054, Ensembl: ENSG00000180176
-
Evidence:
- Pubmed Ids: 18534229, 16139102,
- HuGE Navigator Score: 0.03
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
GP1BA
- Genotator Score: 3.4
- Description: "glycoprotein Ib (platelet), alpha polypeptide"
- Chromosome: 17, Band: 17pter-p12
- Gene Synonyms: BSS, CD42B, CD42b-alpha, GP1B, MGC34595
- Other Descriptions: platelet glycoprotein Ib alpha polypeptide, platelet membrane glycoprotein 1b-alpha subunit
- Cross-references: NCBI: 2811, Ensembl:
-
Evidence:
- Pubmed Ids: 17619827, 11514372,
- HuGE Navigator Score: 0.02
- GAD counts: yes=1, no=0, null=1
- Evidence Sources: HuGE Navigator, GAD
-
TNNI3
- Genotator Score: 3.2
- 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:
- Pubmed Ids: 18403758,
- HuGE Navigator Score: 0.03
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
KCND3
- Genotator Score: 2.6
- Description: "potassium voltage-gated channel, Shal-related subfamily, member 3"
- Chromosome: 1, Band: 1p13.3
- Gene Synonyms: KCND3L, KCND3S, KSHIVB, KV4.3, MGC142035, MGC142037
- Other Descriptions: OTTHUMP00000013771, OTTHUMP00000013772, OTTHUMP00000063948, potassium ionic channel Kv4.3, sha1-related potassium channel Kv4.3, voltage-gated K+ channel, voltage-gated potassium channel Kv4.3
- Cross-references: NCBI: 3752, Ensembl: ENSG00000171385
-
Evidence:
- Pubmed Ids: 15563876,
- HuGE Navigator Score: 0.024
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
PON1
- Genotator Score: 2.4
- Description: paraoxonase 1
- Chromosome: 7, Band: 7q21.3
- Gene Synonyms: ESA, MVCD5, PON
- Other Descriptions: arylesterase B-type, esterase A, paraoxonase B-type, serum aryldiakylphosphatase
- Cross-references: NCBI: 5444, Ensembl: ENSG00000005421
-
Evidence:
- Pubmed Ids: 16683402, 15284530,
- HuGE Navigator Score: 0.02
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: GeneCards, HuGE Navigator
-
GNB3
- Genotator Score: 2.4
- Description: "guanine nucleotide binding protein (G protein), beta polypeptide 3"
- Chromosome: 12, Band: 12p13
- Gene Synonyms:
- Other Descriptions: "G protein, beta-3 subunit, GTP-binding regulatory protein beta-3 chain, guanine nucleotide-binding protein G(I)/G(S)/G(T) beta subunit 3, guanine nucleotide-binding protein, beta-3 subunit, hypertension associated protein, transducin beta chain 3"
- Cross-references: NCBI: 2784, Ensembl: ENSG00000111664
-
Evidence:
- Pubmed Ids: 16938762, 16139102,
- HuGE Navigator Score: 0.02
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
IL18
- Genotator Score: 2.4
- Description: interleukin 18 (interferon-gamma-inducing factor)
- Chromosome: 11, Band: 11q22.2-q22.3
- Gene Synonyms: IGIF, IL-18, IL-1g, IL1F4, MGC12320
- Other Descriptions: IL-1 gamma, interferon-gamma-inducing factor, interleukin 18, interleukin-1 gamma, interleukin-18
- Cross-references: NCBI: 3606, Ensembl:
-
Evidence:
- Pubmed Ids: 19687159, 17765248,
- HuGE Navigator Score: 0.02
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: GeneCards, HuGE Navigator
-
MMP3
- Genotator Score: 2.4
- 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: 15823277, 12204805,
- HuGE Navigator Score: 0.02
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: GeneCards, HuGE Navigator
-
IL1B
- Genotator Score: 2.4
- 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: 20080142, 15325407,
- HuGE Navigator Score: 0.02
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
SREBF2
- Genotator Score: 2.4
- Description: sterol regulatory element binding transcription factor 2
- Chromosome: 22, Band: 22q13
- Gene Synonyms: SREBP2, bHLHd2
- Other Descriptions: OTTHUMP00000028740, sterol regulatory element-binding protein 2, sterol regulatory element-binding transcription factor 2
- Cross-references: NCBI: 6721, Ensembl: ENSG00000198911
-
Evidence:
- Pubmed Ids: 20111910, 19116028,
- HuGE Navigator Score: 0.02
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
ACE2
- Genotator Score: 2.4
- 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: 19716087, 18208662,
- HuGE Navigator Score: 0.02
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: GeneCards, HuGE Navigator
-
LIPC
- Genotator Score: 2.4
- Description: "lipase, hepatic"
- Chromosome: 15, Band: 15q21-q23
- Gene Synonyms: HDLCQ12, HL, HTGL, LIPH
- Other Descriptions: lipase C
- Cross-references: NCBI: 3990, Ensembl: ENSG00000166035
-
Evidence:
- Pubmed Ids: 16793047, 17537154,
- HuGE Navigator Score: 0.02
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: GeneCards, HuGE Navigator
-
SNTA1
- Genotator Score: 2.4
- Description: "syntrophin, alpha 1 (dystrophin-associated protein A1, 59kDa, acidic component)"
- Chromosome: 20, Band: 20q11.2
- Gene Synonyms: SNT1, TACIP1, dJ1187J4.5
- Other Descriptions: OTTHUMP00000030650, acidic alpha 1 syntrophin, pro-TGF-alpha cytoplasmic domain-interacting protein 1
- Cross-references: NCBI: 6640, Ensembl: ENSG00000101400
-
Evidence:
- Pubmed Ids: 20009079, 19684871,
- HuGE Navigator Score: 0.02
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: GeneCards, HuGE Navigator
-
SERPINE1
- Genotator Score: 2.2
- Description: "serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1"
- Chromosome: 7, Band: 7q21.3-q22
- Gene Synonyms: PAI, PAI-1, PAI1, PLANH1
- Other Descriptions: "plasminogen activator inhibitor, type I, plasminogen activator inhibitor-1, serine (or cysteine) proteinase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1"
- Cross-references: NCBI: 5054, Ensembl: ENSG00000106366
-
Evidence:
- Pubmed Ids: 11457467,
- HuGE Navigator Score: 0.01
- GAD counts: yes=1, no=0, null=0
- Evidence Sources: GeneCards, HuGE Navigator, GAD
-
SCN2B
- Genotator Score: 2.2
- Description: "sodium channel, voltage-gated, type II, beta"
- Chromosome: 11, Band: 11q23
- Gene Synonyms:
- Other Descriptions: "neuronal voltage-gated sodium channel beta 2 subunit, sodium channel beta 2 subunit, sodium channel, voltage-gated, type II, beta polypeptide"
- Cross-references: NCBI: 6327, Ensembl: ENSG00000149575
-
Evidence:
- Pubmed Ids: 20137763,
- HuGE Navigator Score: 0.02
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
JUP
- Genotator Score: 2.2
- 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: 20129281,
- HuGE Navigator Score: 0.02
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: GeneCards, HuGE Navigator, GenAtlas
-
VEGFA
- Genotator Score: 2.2
- Description: vascular endothelial growth factor A
- Chromosome: 6, Band: 6p12
- Gene Synonyms: MGC70609, MVCD1, VEGF, VEGF-A, VPF
- Other Descriptions: vascular endothelial growth factor isoform VEGF165, vascular permeability factor
- Cross-references: NCBI: 7422, Ensembl: ENSG00000112715
-
Evidence:
- Pubmed Ids: 16916659,
- HuGE Navigator Score: 0.01
- GAD counts: yes=1, no=0, null=0
- Evidence Sources: HuGE Navigator, GAD
-
SCN1B
- Genotator Score: 2.2
- Description: "sodium channel, voltage-gated, type I, beta"
- Chromosome: 19, Band: 19q13.1
- Gene Synonyms: GEFSP1
- Other Descriptions: "sodium channel beta-1 subunit, sodium channel, voltage-gated, type I, beta polypeptide"
- Cross-references: NCBI: 6324, Ensembl: ENSG00000105711
-
Evidence:
- Pubmed Ids: 20137763,
- HuGE Navigator Score: 0.02
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator, GenAtlas
-
SLC6A3
- Genotator Score: 2.2
- Description: "solute carrier family 6 (neurotransmitter transporter, dopamine), member 3"
- Chromosome: 5, Band: 5p15.3
- Gene Synonyms: DAT, DAT1
- Other Descriptions: dopamine transporter, variable number tandem repeat (VNTR)
- Cross-references: NCBI: 6531, Ensembl: ENSG00000142319
-
Evidence:
- Pubmed Ids: 18810510,
- HuGE Navigator Score: 0.02
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
DSG2
- Genotator Score: 2.2
- 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: 20129281,
- HuGE Navigator Score: 0.02
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: GeneCards, HuGE Navigator
-
CASQ2
- Genotator Score: 2.2
- Description: calsequestrin 2 (cardiac muscle)
- Chromosome: 1, Band: 1p13.3-p11
- Gene Synonyms: FLJ26321, FLJ93514, PDIB2
- Other Descriptions: "OTTHUMP00000013749, calsequestrin 2, fast-twitch, cardiac muscle, cardiac calsequestrin 2"
- Cross-references: NCBI: 845, Ensembl: ENSG00000118729
-
Evidence:
- Pubmed Ids: 19709828,
- HuGE Navigator Score: 0.02
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: GeneCards, HuGE Navigator, WikiGenes
-
DSC2
- Genotator Score: 2.2
- 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: 20129281,
- HuGE Navigator Score: 0.02
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: GeneCards, HuGE Navigator, GenAtlas
-
MBL2
- Genotator Score: 2.0
- 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:
- HuGE Navigator Score: 0.02
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
GCK
- Genotator Score: 1.8
- Description: glucokinase (hexokinase 4)
- Chromosome: 7, Band: 7p15.3-p15.1
- Gene Synonyms: GK, GLK, HHF3, HK4, HKIV, HXKP, MODY2
- Other Descriptions: "ATP:D-hexose 6-phosphotransferase, OTTHUMP00000024521, OTTHUMP00000159308, glucokinase, hexokinase D, pancreatic isozyme"
- Cross-references: NCBI: 2645, Ensembl: ENSG00000106633
-
Evidence:
- Pubmed Ids: 15918042, 12515438,
- HuGE Navigator Score: 0.014
- GAD counts: yes=0, no=0, null=2
- Evidence Sources: HuGE Navigator, GAD
-
TSPYL1
- Genotator Score: 1.4
- Description: TSPY-like 1
- Chromosome: 6, Band: 6q22-q23
- Gene Synonyms: TSPYL
- Other Descriptions: "OTTHUMP00000017052, testis-specific-like protein, Y encoded"
- Cross-references: NCBI: 7259, Ensembl:
-
Evidence:
- Pubmed Ids: 19463995, 16418600,
- HuGE Navigator Score: 0.02
- GAD counts: yes=0, no=1, null=0
- Evidence Sources: HuGE Navigator, WikiGenes, GAD
-
PTGS2
- Genotator Score: 1.2
- Description: prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)
- Chromosome: 1, Band: 1q25.2-q25.3
- Gene Synonyms: COX-2, COX2, GRIPGHS, PGG/HS, PGHS-2, PHS-2, hCox-2
- Other Descriptions: OTTHUMP00000033524, cyclooxygenase 2b, prostaglandin G/H synthase and cyclooxygenase, prostaglandin-endoperoxide synthase 2
- Cross-references: NCBI: 5743, Ensembl: ENSG00000073756
-
Evidence:
- Pubmed Ids: 18385811,
- HuGE Navigator Score: 0.01
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: GeneCards, HuGE Navigator
-
SLC9A3
- Genotator Score: 1.2
- Description: "solute carrier family 9 (sodium/hydrogen exchanger), member 3"
- Chromosome: 5, Band: 5p15.3
- Gene Synonyms: MGC126718, MGC126720, NHE3
- Other Descriptions: "OTTHUMP00000115364, solute carrier family 9 (sodium/hydrogen exchanger), isoform 3"
- Cross-references: NCBI: 6550, Ensembl: ENSG00000066230
-
Evidence:
- Pubmed Ids: 19772970,
- HuGE Navigator Score: 0.01
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
EDN1
- Genotator Score: 1.2
- 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: 15240857,
- HuGE Navigator Score: 0.01
- GAD counts: yes=0, no=0, null=1
- Evidence Sources: HuGE Navigator, GAD
-
AGTR2
- Genotator Score: 1.2
- 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: 19716087,
- HuGE Navigator Score: 0.01
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
CTGF
- Genotator Score: 1.2
- Description: connective tissue growth factor
- Chromosome: 6, Band: 6q23.1
- Gene Synonyms: CCN2, HCS24, IGFBP8, MGC102839, NOV2
- Other Descriptions: OTTHUMP00000017213, hypertrophic chondrocyte-specific protein 24, insulin-like growth factor-binding protein 8
- Cross-references: NCBI: 1490, Ensembl: ENSG00000118523
-
Evidence:
- Pubmed Ids: 20004937,
- HuGE Navigator Score: 0.01
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
PHOX2A
- Genotator Score: 1.2
- Description: paired-like homeobox 2a
- Chromosome: 11, Band: 11q13.2
- Gene Synonyms: ARIX, CFEOM2, FEOM2, MGC52227, NCAM2, PMX2A
- Other Descriptions: aristaless homeobox homolog, arix homeodomain protein
- Cross-references: NCBI: 401, Ensembl: ENSG00000165462
-
Evidence:
- Pubmed Ids: 15240857,
- HuGE Navigator Score: 0.01
- GAD counts: yes=0, no=0, null=1
- Evidence Sources: HuGE Navigator, GAD
-
CYP1A1
- Genotator Score: 1.2
- Description: "cytochrome P450, family 1, subfamily A, polypeptide 1"
- Chromosome: 15, Band: 15q24.1
- Gene Synonyms: AHH, AHRR, CP11, CYP1, P1-450, P450-C, P450DX
- Other Descriptions: "aryl hydrocarbon hydroxylase, cytochrome P1-450, dioxin-inducible, cytochrome P450 1A1, cytochrome P450, subfamily I (aromatic compound-inducible), polypeptide 1, flavoprotein-linked monooxygenase, xenobiotic monooxygenase"
- Cross-references: NCBI: 1543, Ensembl: ENSG00000140465
-
Evidence:
- Pubmed Ids: 16763966,
- HuGE Navigator Score: 0.01
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
GSTT1
- Genotator Score: 1.2
- Description: glutathione S-transferase theta 1
- Chromosome: 22, Band: 22q11.23
- Gene Synonyms:
- Other Descriptions:
- Cross-references: NCBI: 2952, Ensembl: ENSG00000184674
-
Evidence:
- Pubmed Ids: 16763966,
- HuGE Navigator Score: 0.01
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
CYP2E1
- Genotator Score: 1.2
- Description: "cytochrome P450, family 2, subfamily E, polypeptide 1"
- Chromosome: 10, Band: 10q24.3-qter
- Gene Synonyms: CPE1, CYP2E, P450-J, P450C2E
- Other Descriptions: "OTTHUMP00000020813, OTTHUMP00000046571, cytochrome P450 2E1, cytochrome P450, subfamily IIE (ethanol-inducible), polypeptide 1, flavoprotein-linked monooxygenase, microsomal monooxygenase, xenobiotic monooxygenase"
- Cross-references: NCBI: 1571, Ensembl: ENSG00000130649
-
Evidence:
- Pubmed Ids: 11696658,
- HuGE Navigator Score: 0.01
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
HLA-DRB1
- Genotator Score: 1.2
- 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:
- Pubmed Ids: 17124999,
- HuGE Navigator Score: 0.01
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
CYP2B6
- Genotator Score: 1.2
- Description: "cytochrome P450, family 2, subfamily B, polypeptide 6"
- Chromosome: 19, Band: 19q13.2
- Gene Synonyms: CPB6, CYP2B, CYPIIB6, IIB1, P450
- Other Descriptions: "cytochrome P450, subfamily IIB (phenobarbital-inducible), polypeptide 6"
- Cross-references: NCBI: 1555, Ensembl: ENSG00000197408
-
Evidence:
- Pubmed Ids: 17329992,
- HuGE Navigator Score: 0.01
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
BDKRB2
- Genotator Score: 1.2
- Description: bradykinin receptor B2
- Chromosome: 14, Band: 14q32.1-q32.2
- Gene Synonyms: B2R, BK-2, BK2, BKR2, BRB2, DKFZp686O088
- Other Descriptions:
- Cross-references: NCBI: 624, Ensembl: ENSG00000168398
-
Evidence:
- Pubmed Ids: 19716087,
- HuGE Navigator Score: 0.01
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
KCNJ2
- Genotator Score: 1.2
- Description: "potassium inwardly-rectifying channel, subfamily J, member 2"
- Chromosome: 17, Band: 17q23.1-q24.2
- Gene Synonyms: HHBIRK1, HHIRK1, IRK1, KIR2.1, LQT7, SQT3
- Other Descriptions: cardiac inward rectifier potassium channel, inward rectifier K+ channel KIR2.1, inward rectifier potassium channel 2, potassium inwardly-rectifying channel J2
- Cross-references: NCBI: 3759, Ensembl: ENSG00000123700
-
Evidence:
- Pubmed Ids: 17210839,
- HuGE Navigator Score: 0.01
- GAD counts: yes=0, no=0, null=1
- Evidence Sources: GeneCards, HuGE Navigator, GAD
-
ADCYAP1
- Genotator Score: 1.2
- Description: adenylate cyclase activating polypeptide 1 (pituitary)
- Chromosome: 18, Band: 18p11
- Gene Synonyms: MGC126852, PACAP
- Other Descriptions: OTTHUMP00000162201, adenylate cyclase activating polypeptide
- Cross-references: NCBI: 116, Ensembl: ENSG00000141433
-
Evidence:
- Pubmed Ids: 19120039,
- HuGE Navigator Score: 0.01
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
BMP2
- Genotator Score: 1.2
- Description: bone morphogenetic protein 2
- Chromosome: 20, Band: 20p12
- Gene Synonyms: BMP2A
- Other Descriptions: OTTHUMP00000030228
- Cross-references: NCBI: 650, Ensembl: ENSG00000125845
-
Evidence:
- Pubmed Ids: 15240857,
- HuGE Navigator Score: 0.01
- GAD counts: yes=0, no=0, null=1
- Evidence Sources: HuGE Navigator, GAD
-
EN1
- Genotator Score: 1.2
- Description: engrailed homeobox 1
- Chromosome: 2, Band: 2q13-q21
- Gene Synonyms:
- Other Descriptions: OTTHUMP00000162091, engrailed homolog 1
- Cross-references: NCBI: 2019, Ensembl: ENSG00000163064
-
Evidence:
- Pubmed Ids: 15240857,
- HuGE Navigator Score: 0.01
- GAD counts: yes=0, no=0, null=1
- Evidence Sources: HuGE Navigator, GAD
-
USF1
- Genotator Score: 1.2
- Description: upstream transcription factor 1
- Chromosome: 1, Band: 1q22-q23
- Gene Synonyms: FCHL, FCHL1, HYPLIP1, MLTF, MLTFI, UEF, bHLHb11
- Other Descriptions: OTTHUMP00000029691, OTTHUMP00000029693, major late transcription factor 1, upstream stimulatory factor 1
- Cross-references: NCBI: 7391, Ensembl: ENSG00000158773
-
Evidence:
- Pubmed Ids: 18276913,
- HuGE Navigator Score: 0.01
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
PTPN11
- Genotator Score: 1.2
- Description: "protein tyrosine phosphatase, non-receptor type 11"
- Chromosome: 12, Band: 12q24
- Gene Synonyms: BPTP3, CFC, MGC14433, NS1, PTP-1D, PTP2C, SH-PTP2, SH-PTP3, SHP2
- Other Descriptions: protein tyrosine phosphatase-2, protein-tyrosine phosphatase 2C
- Cross-references: NCBI: 5781, Ensembl: ENSG00000179295
-
Evidence:
- Pubmed Ids: 18241070,
- HuGE Navigator Score: 0.01
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
NPY
- Genotator Score: 1.2
- Description: neuropeptide Y
- Chromosome: 7, Band: 7p15.1
- Gene Synonyms: PYY4
- Other Descriptions:
- Cross-references: NCBI: 4852, Ensembl: ENSG00000122585
-
Evidence:
- Pubmed Ids: 18054939,
- HuGE Navigator Score: 0.01
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: GeneCards, HuGE Navigator
-
KCNJ11
- Genotator Score: 1.2
- Description: "potassium inwardly-rectifying channel, subfamily J, member 11"
- Chromosome: 11, Band: 11p15.1
- Gene Synonyms: BIR, HHF2, IKATP, KIR6.2, MGC133230, PHHI, TNDM3
- Other Descriptions: ATP-sensitive inward rectifier potassium channel 11, beta-cell inward rectifier subunit, inwardly rectifying potassium channel KIR6.2, potassium inwardly-rectifying channel J11
- Cross-references: NCBI: 3767, Ensembl: ENSG00000187486
-
Evidence:
- Pubmed Ids: 14871556,
- HuGE Navigator Score: 0.01
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
CETP
- Genotator Score: 1.2
- Description: "cholesteryl ester transfer protein, plasma"
- Chromosome: 16, Band: 16q21
- Gene Synonyms: HDLCQ10
- Other Descriptions: lipid transfer protein
- Cross-references: NCBI: 1071, Ensembl: ENSG00000087237
-
Evidence:
- Pubmed Ids: 17666459,
- HuGE Navigator Score: 0.01
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: GeneCards, HuGE Navigator
-
SCAP
- Genotator Score: 1.2
- Description: SREBF chaperone
- Chromosome: 3, Band: 3p21.31
- Gene Synonyms: KIAA0199
- Other Descriptions: SREBF chaperone protein, SREBP cleavage activating protein, SREBP cleavage-activating protein, sterol regulatory element binding protein cleavage-activating protein
- Cross-references: NCBI: 22937, Ensembl: ENSG00000114650
-
Evidence:
- Pubmed Ids: 19116028,
- HuGE Navigator Score: 0.01
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
TPH2
- Genotator Score: 1.2
- Description: tryptophan hydroxylase 2
- Chromosome: 12, Band: 12q21.1
- Gene Synonyms: FLJ37295, MGC138871, MGC138872, NTPH
- Other Descriptions: neuronal tryptophan hydroxylase, tryptophan 5-monooxygenase 2
- Cross-references: NCBI: 121278, Ensembl: ENSG00000139287
-
Evidence:
- Pubmed Ids: 18387780,
- HuGE Navigator Score: 0.01
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
HLA-DQB1
- Genotator Score: 1.2
- 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:
- Pubmed Ids: 17124999,
- HuGE Navigator Score: 0.01
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
SFTPA1
- Genotator Score: 1.2
- Description: surfactant protein A1
- Chromosome: 10, Band: 10q22.3
- Gene Synonyms: COLEC4, FLJ51913, SFTP1, SP-A, SP-A1
- Other Descriptions: "surfactant, pulmonary-associated protein A1, surfactant, pulmonary-associated protein A1A"
- Cross-references: NCBI: 653509, Ensembl:
-
Evidence:
- Pubmed Ids: 18983439,
- HuGE Navigator Score: 0.01
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
TLX3
- Genotator Score: 1.2
- Description: T-cell leukemia homeobox 3
- Chromosome: 5, Band: 5q35.1
- Gene Synonyms: HOX11L2, MGC29804, RNX
- Other Descriptions: "T-cell leukemia, homeobox 3, homeo box 11-like 2"
- Cross-references: NCBI: 30012, Ensembl: ENSG00000164438
-
Evidence:
- Pubmed Ids: 15240857,
- HuGE Navigator Score: 0.01
- GAD counts: yes=0, no=0, null=1
- Evidence Sources: HuGE Navigator, GAD
-
THBS2
- Genotator Score: 1.2
- Description: thrombospondin 2
- Chromosome: 6, Band: 6q27
- Gene Synonyms: TSP2
- Other Descriptions: OTTHUMP00000042899
- Cross-references: NCBI: 7058, Ensembl: ENSG00000186340
-
Evidence:
- Pubmed Ids: 19631562,
- HuGE Navigator Score: 0.01
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: GeneCards, HuGE Navigator
-
ACTC1
- Genotator Score: 1.2
- 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:
- Pubmed Ids: 18403758,
- HuGE Navigator Score: 0.01
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
SFTPA2
- Genotator Score: 1.2
- Description: surfactant protein A2
- Chromosome: 10, Band: 10q22.3
- Gene Synonyms: COLEC5, MGC189761, SP-A2, SPA2, SPAII
- Other Descriptions: "OTTHUMP00000019932, surfactant, pulmonary-associated protein A2, surfactant, pulmonary-associated protein A2A"
- Cross-references: NCBI: 729238, Ensembl:
-
Evidence:
- Pubmed Ids: 18983439,
- HuGE Navigator Score: 0.01
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
HTR2A
- Genotator Score: 1.2
- 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: 18771483,
- HuGE Navigator Score: 0.01
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
MICB
- Genotator Score: 1.2
- 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: 0.01
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
MICA
- Genotator Score: 1.2
- 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: 0.01
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
MMP9
- Genotator Score: 1.2
- 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: 15823277,
- HuGE Navigator Score: 0.01
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
ADH1C
- Genotator Score: 1.2
- Description: "alcohol dehydrogenase 1C (class I), gamma polypeptide"
- Chromosome: 4, Band: 4q21-q23
- Gene Synonyms: ADH3
- Other Descriptions: "ADH, gamma subunit, alcohol dehydrogenase 3 (class I), gamma polypeptide, aldehyde reductase, class I alcohol dehydrogenase, gamma subunit"
- Cross-references: NCBI: 126, Ensembl:
-
Evidence:
- Pubmed Ids: 11696658,
- HuGE Navigator Score: 0.01
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
ADH1B
- Genotator Score: 1.2
- Description: "alcohol dehydrogenase 1B (class I), beta polypeptide"
- Chromosome: 4, Band: 4q21-q23
- Gene Synonyms: ADH2, DKFZp686C06125
- Other Descriptions: "ADH, beta subunit, alcohol dehydrogenase 2 (class I), beta polypeptide, aldehyde reductase, class I alcohol dehydrogenase, beta subunit"
- Cross-references: NCBI: 125, Ensembl: ENSG00000196616
-
Evidence:
- Pubmed Ids: 11696658,
- HuGE Navigator Score: 0.01
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
TLR4
- Genotator Score: 1.2
- 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: 17101559,
- HuGE Navigator Score: 0.01
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: GeneCards, HuGE Navigator
-
GP6
- Genotator Score: 1.2
- Description: glycoprotein VI (platelet)
- Chromosome: 19, Band: 19q13.4
- Gene Synonyms: GPIV, GPVI, MGC138168
- Other Descriptions: platelet collagen receptor, platelet glycoprotein VI
- Cross-references: NCBI: 51206, Ensembl: ENSG00000088053
-
Evidence:
- Pubmed Ids: 15306180,
- HuGE Navigator Score: 0.01
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator, WikiGenes
-
IL1A
- Genotator Score: 1.2
- 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: 20080142,
- HuGE Navigator Score: 0.01
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
RET
- Genotator Score: 1.2
- Description: ret proto-oncogene
- Chromosome: 10, Band: 10q11.2
- Gene Synonyms: CDHF12, HSCR1, MEN2A, MEN2B, MTC1, PTC, RET-ELE1, RET51
- Other Descriptions: "RET transforming sequence, cadherin family member 12, hydroxyaryl-protein kinase, oncogene RET, receptor tyrosine kinase, ret proto-oncogene (multiple endocrine neoplasia and medullary thyroid carcinoma 1, Hirschsprung disease)"
- Cross-references: NCBI: 5979, Ensembl: ENSG00000165731
-
Evidence:
- Pubmed Ids: 15240857,
- HuGE Navigator Score: 0.01
- GAD counts: yes=0, no=0, null=1
- Evidence Sources: HuGE Navigator, GAD
-
ASCL1
- Genotator Score: 1.2
- Description: achaete-scute complex homolog 1 (Drosophila)
- Chromosome: 12, Band: 12q23.2
- Gene Synonyms: ASH1, HASH1, MASH1, bHLHa46
- Other Descriptions: achaete scute protein, achaete-scute complex homolog 1, achaete-scute complex-like 1
- Cross-references: NCBI: 429, Ensembl: ENSG00000139352
-
Evidence:
- Pubmed Ids: 15240857,
- HuGE Navigator Score: 0.01
- GAD counts: yes=0, no=0, null=1
- Evidence Sources: HuGE Navigator, GAD
-
DSP
- Genotator Score: 1.2
- 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: 20129281,
- HuGE Navigator Score: 0.01
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
BAT1
- Genotator Score: 1.2
- 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: 0.01
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
CAV3
- Genotator Score: 1.2
- 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: 17210839,
- HuGE Navigator Score: 0.01
- GAD counts: yes=0, no=0, null=1
- Evidence Sources: GeneCards, HuGE Navigator, GAD
-
MYL2
- Genotator Score: 1.2
- 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:
- Pubmed Ids: 18403758,
- HuGE Navigator Score: 0.01
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
MYL3
- Genotator Score: 1.2
- 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:
- Pubmed Ids: 18403758,
- HuGE Navigator Score: 0.01
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
ECE1
- Genotator Score: 1.2
- 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: 15240857,
- HuGE Navigator Score: 0.01
- GAD counts: yes=0, no=0, null=1
- Evidence Sources: HuGE Navigator, GAD
-
SFTPD
- Genotator Score: 1.2
- Description: surfactant protein D
- Chromosome: 10, Band: 10q22.2-q23.1
- Gene Synonyms: COLEC7, PSP-D, SFTP4, SP-D
- Other Descriptions: "OTTHUMP00000019944, collectin 7, pulmonary surfactant apoprotein, pulmonary surfactant-associated protein D, surfactant, pulmonary-associated protein D, surfactant-associated protein, pulmonary 4"
- Cross-references: NCBI: 6441, Ensembl: ENSG00000133661
-
Evidence:
- Pubmed Ids: 18983439,
- HuGE Navigator Score: 0.01
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
ADRA2C
- Genotator Score: 1.2
- 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: 17223428,
- HuGE Navigator Score: 0.01
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
NFKBIL1
- Genotator Score: 1.2
- 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: 16101831,
- HuGE Navigator Score: 0.01
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
LAMP2
- Genotator Score: 1.2
- 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: 0.01
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
UCP2
- Genotator Score: 1.2
- Description: "uncoupling protein 2 (mitochondrial, proton carrier)"
- Chromosome: 11, Band: 11q13
- Gene Synonyms: BMIQ4, SLC25A8, UCPH
- Other Descriptions: uncoupling protein 2
- Cross-references: NCBI: 7351, Ensembl: ENSG00000175567
-
Evidence:
- Pubmed Ids: 18192542,
- HuGE Navigator Score: 0.01
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
ALDH2
- Genotator Score: 1.2
- Description: aldehyde dehydrogenase 2 family (mitochondrial)
- Chromosome: 12, Band: 12q24.2
- Gene Synonyms: ALDH-E2, ALDHI, ALDM, MGC1806
- Other Descriptions: ALDH class 2, acetaldehyde dehydrogenase 2, liver mitochondrial ALDH, mitochondrial aldehyde dehydrogenase 2, nucleus-encoded mitochondrial aldehyde dehydrogenase 2
- Cross-references: NCBI: 217, Ensembl: ENSG00000111275
-
Evidence:
- Pubmed Ids: 11696658,
- HuGE Navigator Score: 0.01
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
CPB2
- Genotator Score: 1.2
- Description: carboxypeptidase B2 (plasma)
- Chromosome: 13, Band: 13q14.11
- Gene Synonyms: CPU, PCPB, TAFI
- Other Descriptions: "OTTHUMP00000018364, OTTHUMP00000018365, carboxypeptidase B-like protein, carboxypeptidase B2 (plasma, carboxypeptidase U), carboxypeptidase U, plasma carboxypeptidase B2, thrombin-activable fibrinolysis inhibitor, thrombin-activatable fibrinolysis inhibitor"
- Cross-references: NCBI: 1361, Ensembl: ENSG00000080618
-
Evidence:
- Pubmed Ids: 19017260,
- HuGE Navigator Score: 0.01
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
CYP11B2
- Genotator Score: 1.2
- 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:
- Pubmed Ids: 11696658,
- HuGE Navigator Score: 0.01
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
PRKAG2
- Genotator Score: 1.2
- 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: 18403758,
- HuGE Navigator Score: 0.01
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: GeneCards, HuGE Navigator
-
FEV
- Genotator Score: 1.2
- Description: FEV (ETS oncogene family)
- Chromosome: 2, Band: 2q36
- Gene Synonyms: HSRNAFEV, PET-1
- Other Descriptions: FEV (fifth Ewing variant), OTTHUMP00000164098
- Cross-references: NCBI: 54738, Ensembl: ENSG00000163497
-
Evidence:
- Pubmed Ids: 19707175,
- HuGE Navigator Score: 0.01
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
LTA
- Genotator Score: 1.2
- 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: 11257271,
- HuGE Navigator Score: 0.01
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
KNG1
- Genotator Score: 1.2
- Description: kininogen 1
- Chromosome: 3, Band: 3q27
- Gene Synonyms: BDK, KNG
- Other Descriptions: alpha-2-thiol proteinase inhibitor, bradykinin
- Cross-references: NCBI: 3827, Ensembl: ENSG00000113889
-
Evidence:
- Pubmed Ids: 19716087,
- HuGE Navigator Score: 0.01
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
ND1
- Genotator Score: 1.2
- 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: 17429906,
- HuGE Navigator Score: 0.01
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
ND3
- Genotator Score: 1.2
- Description: mitochondrially encoded NADH dehydrogenase 3
- Chromosome: MT, Band:
- Gene Synonyms: MTND3
- Other Descriptions: NADH dehydrogenase subunit 3
- Cross-references: NCBI: 4537, Ensembl:
-
Evidence:
- Pubmed Ids: 17429907,
- HuGE Navigator Score: 0.01
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
CHRM2
- Genotator Score: 1.2
- 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: 0.01
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
TCAP
- Genotator Score: 1.2
- 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:
- Pubmed Ids: 15582318,
- HuGE Navigator Score: 0.01
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
SLC37A4
- Genotator Score: 1.2
- Description: "solute carrier family 37 (glucose-6-phosphate transporter), member 4"
- Chromosome: 11, Band: 11q23.3
- Gene Synonyms: G6PT1, G6PT2, G6PT3, GSD1b, GSD1c, GSD1d, MGC15729, PRO0685, TRG19
- Other Descriptions: "glucose-6-phosphatase, transport (glucose) protein 3, glucose-6-phosphatase, transport (glucose-6-phosphate) protein 1, glucose-6-phosphatase, transport (phosphate/pyrophosphate) protein 2, glucose-6-phosphate translocase, glucose-6-phosphate transporter 1, microsomal glucose-6-phosphate transporter, solute carrier family 37 (glycerol-6-phosphate transporter), member 4"
- Cross-references: NCBI: 2542, Ensembl:
-
Evidence:
- Pubmed Ids: 17354259,
- HuGE Navigator Score: 0.01
- GAD counts: yes=0, no=0, null=1
- Evidence Sources: HuGE Navigator, GAD
-
TPM1
- Genotator Score: 1.2
- 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:
- Pubmed Ids: 18403758,
- HuGE Navigator Score: 0.01
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: GeneCards, HuGE Navigator, WikiGenes
-
MTHFR
- Genotator Score: 1.2
- Description: "5,10-methylenetetrahydrofolate reductase (NADPH)"
- Chromosome: 1, Band: 1p36.3
- Gene Synonyms:
- Other Descriptions: "5,10-methylenetetrahydrofolate reductase, OTTHUMP00000002367, OTTHUMP00000002368, methylenetetrahydrofolate reductase intermediate form"
- Cross-references: NCBI: 4524, Ensembl: ENSG00000177000
-
Evidence:
- Pubmed Ids: 15813553,
- HuGE Navigator Score: 0.01
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
REN
- Genotator Score: 1.2
- Description: renin
- Chromosome: 1, Band: 1q32
- Gene Synonyms: FLJ10761
- Other Descriptions: "OTTHUMP00000034311, angiotensin-forming enzyme, angiotensinogenase, renin precursor, renal"
- Cross-references: NCBI: 5972, Ensembl: ENSG00000143839
-
Evidence:
- Pubmed Ids: 19716087,
- HuGE Navigator Score: 0.01
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
HRC
- Genotator Score: 1.2
- 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: 0.01
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
RAF1
- Genotator Score: 1.2
- Description: v-raf-1 murine leukemia viral oncogene homolog 1
- Chromosome: 3, Band: 3p25
- Gene Synonyms: CRAF, NS5, Raf-1, c-Raf
- Other Descriptions: Oncogene RAF1, raf proto-oncogene serine/threonine protein kinase
- Cross-references: NCBI: 5894, Ensembl: ENSG00000132155
-
Evidence:
- Pubmed Ids: 18241070,
- HuGE Navigator Score: 0.01
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
ANXA5
- Genotator Score: 1.2
- Description: annexin A5
- Chromosome: 4, Band: 4q26-q28|4q28-q32
- Gene Synonyms: ANX5, ENX2, PP4
- Other Descriptions: anchorin CII, annexin 5, endonexin II, lipocortin V, placental anticoagulant protein I
- Cross-references: NCBI: 308, Ensembl: ENSG00000164111
-
Evidence:
- Pubmed Ids: 16025836,
- HuGE Navigator Score: 0.01
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
AMPD1
- Genotator Score: 1.2
- Description: adenosine monophosphate deaminase 1 (isoform M)
- Chromosome: 1, Band: 1p13
- Gene Synonyms: MAD, MADA
- Other Descriptions: OTTHUMP00000013665, OTTHUMP00000059283, adenosine monophosphate deaminase-1 (muscle)
- Cross-references: NCBI: 270, Ensembl: ENSG00000116748
-
Evidence:
- Pubmed Ids: 15135700,
- HuGE Navigator Score: 0.01
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
VWF
- Genotator Score: 1.2
- Description: von Willebrand factor
- Chromosome: 12, Band: 12p13.3
- Gene Synonyms: F8VWF, VWD
- Other Descriptions: coagulation factor VIII VWF
- Cross-references: NCBI: 7450, Ensembl: ENSG00000110799
-
Evidence:
- Pubmed Ids: 17619827,
- HuGE Navigator Score: 0.01
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
MPO
- Genotator Score: 1.2
- Description: myeloperoxidase
- Chromosome: 17, Band: 17q23.1
- Gene Synonyms:
- Other Descriptions:
- Cross-references: NCBI: 4353, Ensembl: ENSG00000005381
-
Evidence:
- Pubmed Ids: 12861032,
- HuGE Navigator Score: 0.01
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
CPT1A
- Genotator Score: 1.0
- Description: carnitine palmitoyltransferase 1A (liver)
- Chromosome: 11, Band: 11q13.1-q13.2
- Gene Synonyms: CPT1, CPT1-L, L-CPT1
- Other Descriptions: "carnitine palmitoyltransferase 1A liver, carnitine palmitoyltransferase I, liver"
- Cross-references: NCBI: 1374, Ensembl: ENSG00000110090
-
Evidence:
- Pubmed Ids:
- HuGE Navigator Score: 0.01
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
CD14
- Genotator Score: 1.0
- Description: CD14 molecule
- Chromosome: 5, Band: 5q22-q32|5q31.1
- Gene Synonyms:
- Other Descriptions: CD14 antigen, monocyte differentiation antigen CD14
- Cross-references: NCBI: 929, Ensembl: ENSG00000170458
-
Evidence:
- Pubmed Ids:
- HuGE Navigator Score: 0.01
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
CACNA2D1
- Genotator Score: 1.0
- Description: "calcium channel, voltage-dependent, alpha 2/delta subunit 1"
- Chromosome: 7, Band: 7q21-q22
- Gene Synonyms: CACNA2, CACNL2A, CCHL2A
- Other Descriptions: "calcium channel, L type, alpha 2 polypeptide, dihydropyridine-sensitive L-type, calcium channel alpha-2/delta subunit"
- Cross-references: NCBI: 781, Ensembl: ENSG00000153956
-
Evidence:
- Pubmed Ids:
- HuGE Navigator Score: 0.01
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
SCN4B
- Genotator Score: 1.0
- Description: "sodium channel, voltage-gated, type IV, beta"
- Chromosome: 11, Band: 11q23.3
- Gene Synonyms:
- Other Descriptions: sodium channel beta-4 subunit
- Cross-references: NCBI: 6330, Ensembl: ENSG00000177098
-
Evidence:
- Pubmed Ids:
- HuGE Navigator Score: 0.01
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: GeneCards, HuGE Navigator
-
SCN3B
- Genotator Score: 1.0
- Description: "sodium channel, voltage-gated, type III, beta"
- Chromosome: 11, Band: 11q23.3
- Gene Synonyms: HSA243396, SCNB3
- Other Descriptions: voltage-gated sodium channel beta-3 subunit
- Cross-references: NCBI: 55800, Ensembl: ENSG00000166257
-
Evidence:
- Pubmed Ids:
- HuGE Navigator Score: 0.01
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator, GenAtlas
-
AQP4
- Genotator Score: 1.0
- Description: aquaporin 4
- Chromosome: 18, Band: 18q11.2-q12.1
- Gene Synonyms: HMIWC2, MGC22454, MIWC
- Other Descriptions: aquaporin type4, aquaporin-4, mercurial-insensitive water channel
- Cross-references: NCBI: 361, Ensembl: ENSG00000171885
-
Evidence:
- Pubmed Ids:
- HuGE Navigator Score: 0.01
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
APOB
- Genotator Score: 1.0
- Description: apolipoprotein B (including Ag(x) antigen)
- Chromosome: 2, Band: 2p24-p23
- Gene Synonyms: FLDB, LDLCQ4
- Other Descriptions: OTTHUMP00000115994, apoB-100, apoB-48, apolipoprotein B, apolipoprotein B48
- Cross-references: NCBI: 338, Ensembl: ENSG00000084674
-
Evidence:
- Pubmed Ids:
- HuGE Navigator Score: 0.01
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
BDNF
- Genotator Score: 1.0
- Description: brain-derived neurotrophic factor
- Chromosome: 11, Band: 11p13
- Gene Synonyms: MGC34632
- Other Descriptions: neurotrophin
- Cross-references: NCBI: 627, Ensembl: ENSG00000176697
-
Evidence:
- Pubmed Ids:
- HuGE Navigator Score: 0.01
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
CACNB2
- Genotator Score: 1.0
- Description: "calcium channel, voltage-dependent, beta 2 subunit"
- Chromosome: 10, Band: 10p12
- Gene Synonyms: CACNLB2, CAVB2, FLJ23743, MYSB
- Other Descriptions: OTTHUMP00000019254, OTTHUMP00000019255, OTTHUMP00000019256, OTTHUMP00000196786, myasthenic (Lambert-Eaton) syndrome antigen B
- Cross-references: NCBI: 783, Ensembl: ENSG00000165995
-
Evidence:
- Pubmed Ids:
- HuGE Navigator Score: 0.01
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator, GenAtlas
-
GPD1L
- Genotator Score: 1.0
- Description: glycerol-3-phosphate dehydrogenase 1-like
- Chromosome: 3, Band: 3p22.3
- Gene Synonyms: KIAA0089
- Other Descriptions:
- Cross-references: NCBI: 23171, Ensembl: ENSG00000152642
-
Evidence:
- Pubmed Ids:
- HuGE Navigator Score: 0.01
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: GeneCards, HuGE Navigator, GenAtlas
-
NKX2-5
- Genotator Score: 1.0
- 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: 0.01
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: GeneCards, HuGE Navigator
-
TGFBR2
- Genotator Score: 1.0
- Description: "transforming growth factor, beta receptor II (70/80kDa)"
- Chromosome: 3, Band: 3p22
- Gene Synonyms: AAT3, FAA3, LDS1B, LDS2B, MFS2, RIIC, TAAD2, TGFR-2, TGFbeta-RII
- Other Descriptions: "TGF-beta receptor type IIB, TGF-beta type II receptor, transforming growth factor beta receptor type IIC, transforming growth factor, beta receptor II, transforming growth factor, beta receptor II (70-80kD)"
- Cross-references: NCBI: 7048, Ensembl: ENSG00000163513
-
Evidence:
- Pubmed Ids:
- HuGE Navigator Score: 0.01
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
KCNJ8
- Genotator Score: 1.0
- Description: "potassium inwardly-rectifying channel, subfamily J, member 8"
- Chromosome: 12, Band: 12p11.23
- Gene Synonyms: KIR6.1, uKATP-1
- Other Descriptions: ATP-sensitive inward rectifier potassium channel 8, inwardly rectifying potassium channel KIR6.1, potassium inwardly-rectifying channel J8
- Cross-references: NCBI: 3764, Ensembl: ENSG00000121361
-
Evidence:
- Pubmed Ids:
- HuGE Navigator Score: 0.01
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: GeneCards, HuGE Navigator, WikiGenes
-
LDLR
- Genotator Score: 1.0
- Description: low density lipoprotein receptor
- Chromosome: 19, Band: 19p13.3
- Gene Synonyms: FH, FHC, LDLCQ2
- Other Descriptions: LDL receptor, low-density lipoprotein receptor class A domain-containing protein 3
- Cross-references: NCBI: 3949, Ensembl: ENSG00000130164
-
Evidence:
- Pubmed Ids:
- HuGE Navigator Score: 0.01
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
GJA1
- Genotator Score: 1.0
- 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: 0.01
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
BAG3
- Genotator Score: 1.0
- 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: 0.01
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
FMO3
- Genotator Score: 1.0
- Description: flavin containing monooxygenase 3
- Chromosome: 1, Band: 1q23-q25
- Gene Synonyms: FMOII, MGC34400, TMAU, dJ127D3.1
- Other Descriptions: Flavin-containing monooxygenase-3, OTTHUMP00000033540
- Cross-references: NCBI: 2328, Ensembl: ENSG00000007933
-
Evidence:
- Pubmed Ids:
- HuGE Navigator Score: 0.01
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
SOD1
- Genotator Score: 1.0
- Description: "superoxide dismutase 1, soluble"
- Chromosome: 21, Band: 21q22.1|21q22.11
- Gene Synonyms: ALS, ALS1, IPOA, SOD, homodimer
- Other Descriptions: "Cu/Zn superoxide dismutase, SOD, soluble, indophenoloxidase A, superoxide dismutase, cystolic"
- Cross-references: NCBI: 6647, Ensembl: ENSG00000142168
-
Evidence:
- Pubmed Ids:
- HuGE Navigator Score: 0.01
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
ANK2
- Genotator Score: 0.6
- Description: "ankyrin 2, neuronal"
- Chromosome: 4, Band: 4q25-q27
- Gene Synonyms: DKFZp686M09125, DKFZp686P0948, FLJ38277, LQT4
- Other Descriptions: "OTTHUMP00000163834, ankyrin 2, ankyrin B, ankyrin, brain, ankyrin, nonerythroid, ankyrin-2, nonerythrocytic, brank-2"
- Cross-references: NCBI: 287, Ensembl: ENSG00000145362
-
Evidence:
- Pubmed Ids: 15851119,
- HuGE Navigator Score: 0.004
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: GeneCards, HuGE Navigator
-
KCND2
- Genotator Score: 0.6
- Description: "potassium voltage-gated channel, Shal-related subfamily, member 2"
- Chromosome: 7, Band: 7q31
- Gene Synonyms: KIAA1044, KV4.2, MGC119702, MGC119703, RK5
- Other Descriptions: voltage-gated potassium channel Kv4.2, voltage-sensitive potassium channel
- Cross-references: NCBI: 3751, Ensembl: ENSG00000184408
-
Evidence:
- Pubmed Ids: 15563876,
- HuGE Navigator Score: 0.004
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
KCNQ1OT1
- Genotator Score: 0.6
- Description: KCNQ1 overlapping transcript 1 (non-protein coding)
- Chromosome: 11, Band: 11p15
- Gene Synonyms: FLJ41078, KCNQ10T1, KvDMR1, KvLQT1-AS, LIT1, NCRNA00012
- Other Descriptions:
- Cross-references: NCBI: 10984, Ensembl:
-
Evidence:
- Pubmed Ids: 15851119,
- HuGE Navigator Score: 0.004
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: HuGE Navigator
-
IFNG
- Genotator Score: 0.2
- Description: "interferon, gamma"
- Chromosome: 12, Band: 12q14
- Gene Synonyms: IFG, IFI
- Other Descriptions:
- Cross-references: NCBI: 3458, Ensembl: ENSG00000111537
-
Evidence:
- Pubmed Ids: 16916659,
- HuGE Navigator Score: 0.01
- GAD counts: yes=0, no=1, null=0
- Evidence Sources: HuGE Navigator, GAD
-
IL4
- Genotator Score: 0.2
- 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: 16916659,
- HuGE Navigator Score: 0.01
- GAD counts: yes=0, no=1, null=0
- Evidence Sources: HuGE Navigator, GAD
-
TGFB1
- Genotator Score: 0.2
- 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: 16916659,
- HuGE Navigator Score: 0.01
- GAD counts: yes=0, no=1, null=0
- Evidence Sources: HuGE Navigator, GAD
-
ITGA2
- Genotator Score: 0.2
- Description: "integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)"
- Chromosome: 5, Band: 5q23-q31
- Gene Synonyms: BR, CD49B, GPIa, VLA-2, VLAA2
- Other Descriptions: "integrin alpha 2, platelet antigen Br, platelet glycoprotein GPIa, platelet glycoprotein Ia, very late activation protein 2 receptor, alpha-2 subunit"
- Cross-references: NCBI: 3673, Ensembl: ENSG00000164171
-
Evidence:
- Pubmed Ids: 12208476,
- HuGE Navigator Score: 0.01
- GAD counts: yes=0, no=1, null=2
- Evidence Sources: HuGE Navigator, GAD
-
UCP1
- Genotator Score: 0.2
- Description: "uncoupling protein 1 (mitochondrial, proton carrier)"
- Chromosome: 4, Band: 4q28-q31
- Gene Synonyms: SLC25A7, UCP
- Other Descriptions: mitochondrial brown fat uncoupling protein, thermogenin, uncoupling protein 1
- Cross-references: NCBI: 7350, Ensembl: ENSG00000109424
-
Evidence:
- Pubmed Ids: 12029453,
- HuGE Navigator Score: 0.01
- GAD counts: yes=0, no=1, null=0
- Evidence Sources: HuGE Navigator, GAD
-
SLN
- Genotator Score: 0.2
- Description: sarcolipin
- Chromosome: 11, Band: 11q22-q23
- Gene Synonyms: MGC12301, MGC125854, MGC125855
- Other Descriptions:
- Cross-references: NCBI: 6588, Ensembl: ENSG00000170290
-
Evidence:
- Pubmed Ids: 17010328,
- HuGE Navigator Score: 0.01
- GAD counts: yes=0, no=1, null=0
- Evidence Sources: HuGE Navigator, GAD
-
SRP68
- Genotator Score: 0.0
- Description: signal recognition particle 68kDa
- Chromosome: 17, Band: 17q25.1
- Gene Synonyms:
- Other Descriptions:
- Cross-references: NCBI: 6730, Ensembl: ENSG00000167881
-
Evidence:
- Pubmed Ids:
- HuGE Navigator Score: None
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: WikiGenes
-
CYP2D6
- Genotator Score: 0.0
- Description: "cytochrome P450, family 2, subfamily D, polypeptide 6"
- Chromosome: 22, Band: 22q13.1
- Gene Synonyms: CPD6, CYP2D, CYP2D@, CYP2DL1, MGC120389, MGC120390, P450-DB1, P450C2D, P450DB1
- Other Descriptions: "cytochrome P450 2D6, cytochrome P450, subfamily IID (debrisoquine, sparteine, etc., -metabolizing), polypeptide 6, cytochrome P450, subfamily IID (debrisoquine, sparteine, etc., -metabolizing)-like 1, debrisoquine 4-hydroxylase, flavoprotein-linked monooxygenase, microsomal monooxygenase, xenobiotic monooxygenase"
- Cross-references: NCBI: 1565, Ensembl: ENSG00000100197
- Evidence:
-
MECP2
- Genotator Score: 0.0
- Description: methyl CpG binding protein 2 (Rett syndrome)
- Chromosome: X, Band: Xq28
- Gene Synonyms: AUTSX3, DKFZp686A24160, MRX16, MRX79, MRXS13, MRXSL, PPMX, RTS, RTT
- Other Descriptions: OTTHUMP00000026021, methyl CpG binding protein 2
- Cross-references: NCBI: 4204, Ensembl: ENSG00000169057
-
Evidence:
- Pubmed Ids:
- HuGE Navigator Score: None
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: GeneCards
-
SERPINF2
- Genotator Score: 0.0
- Description: "serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 2"
- Chromosome: 17, Band: 17p13
- Gene Synonyms: A2AP, AAP, ALPHA-2-PI, API, PLI
- Other Descriptions: "alpha-2-antiplasmin, alpha-2-plasmin inhibitor, serine (or cysteine) proteinase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 2"
- Cross-references: NCBI: 5345, Ensembl: ENSG00000167711
-
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:
- Pubmed Ids:
- HuGE Navigator Score: None
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: GeneCards
-
ADSL
- Genotator Score: 0.0
- Description: adenylosuccinate lyase
- Chromosome: 22, Band: 22q13.1|22q13.2
- Gene Synonyms: AMPS, ASASE, ASL
- Other Descriptions: OTTHUMP00000028724, adenylosuccinase
- Cross-references: NCBI: 158, Ensembl: ENSG00000100357
-
Evidence:
- Pubmed Ids:
- HuGE Navigator Score: None
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: GeneCards
-
SRP72
- Genotator Score: 0.0
- Description: signal recognition particle 72kDa
- Chromosome: 4, Band: 4q11
- Gene Synonyms:
- Other Descriptions:
- Cross-references: NCBI: 6731, Ensembl: ENSG00000174780
-
Evidence:
- Pubmed Ids:
- HuGE Navigator Score: None
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: WikiGenes
-
HADHA
- Genotator Score: 0.0
- Description: "hydroxyacyl-Coenzyme A dehydrogenase/3-ketoacyl-Coenzyme A thiolase/enoyl-Coenzyme A hydratase (trifunctional protein), alpha subunit"
- Chromosome: 2, Band: 2p23
- Gene Synonyms: ECHA, GBP, HADH, LCHAD, MGC1728, MTPA, TP-ALPHA
- Other Descriptions: "3-ketoacyl-Coenzyme A (CoA) thiolase, alpha subunit, 3-oxoacyl-CoA thiolase, 78 kDa gastrin-binding protein, OTTHUMP00000122457, mitochondrial long-chain 2-enoyl-Coenzyme A (CoA) hydratase, alpha subunit, mitochondrial long-chain L-3-hydroxyacyl-Coenzyme A (CoA) dehydrogenase, alpha subunit, mitochondrial trifunctional enzyme, alpha subunit, mitochondrial trifunctional protein, alpha subunit"
- Cross-references: NCBI: 3030, Ensembl: ENSG00000084754
-
Evidence:
- Pubmed Ids:
- HuGE Navigator Score: None
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: WikiGenes
-
NR1H2
- Genotator Score: 0.0
- Description: "nuclear receptor subfamily 1, group H, member 2"
- Chromosome: 19, Band: 19q13.3-q13.3
- Gene Synonyms: LXR-b, LXRB, NER, NER-I, RIP15, UNR
- Other Descriptions: LX receptor beta, liver X receptor beta, liver X receptor-beta, nuclear orphan receptor LXR-beta, oxysterols receptor LXR-beta, steroid hormone-nuclear receptor NER, ubiquitously-expressed nuclear receptor
- Cross-references: NCBI: 7376, Ensembl: ENSG00000131408
-
Evidence:
- Pubmed Ids:
- HuGE Navigator Score: None
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: GeneCards
-
CYP2C9
- Genotator Score: 0.0
- Description: "cytochrome P450, family 2, subfamily C, polypeptide 9"
- Chromosome: 10, Band: 10q24
- Gene Synonyms: CPC9, CYP2C, CYP2C10, MGC149605, MGC88320, P450IIC9
- Other Descriptions: "OTTHUMP00000020135, cytochrome P-450 S-mephenytoin 4-hydroxylase, cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 10, cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 9, cytochrome p4502C9, flavoprotein-linked monooxygenase, microsomal monooxygenase, xenobiotic monooxygenase"
- Cross-references: NCBI: 1559, Ensembl: ENSG00000138109
-
Evidence:
- Pubmed Ids:
- HuGE Navigator Score: None
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: PharmGKB
-
EPM2A
- Genotator Score: 0.0
- Description: "epilepsy, progressive myoclonus type 2A, Lafora disease (laforin)"
- Chromosome: 6, Band: 6q24
- Gene Synonyms: EPM2, MELF
- Other Descriptions: "OTTHUMP00000017360, epilepsy, progressive myoclonus type 2, Lafora disease (laforin), laforin"
- Cross-references: NCBI: 7957, Ensembl: ENSG00000112425
-
Evidence:
- Pubmed Ids:
- HuGE Navigator Score: None
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: GeneCards
-
KCNJ5
- Genotator Score: 0.0
- Description: "potassium inwardly-rectifying channel, subfamily J, member 5"
- Chromosome: 11, Band: 11q24
- Gene Synonyms: CIR, GIRK4, KATP1, KIR3.4
- Other Descriptions: "G protein-activated inward rectifier potassium channel 4 (GIRK4) (Potassium channel, inwardly rectifying, subfamily J, member 5) (Inward rectifier K+ channel Kir3.4) (Heart KATP channel) (KATP-1) (Cardiac inward rectifier) (CIR)..., cardiac ATP-sensitive potassium channel, cardiac inward rectifier, heart KATP channel, inward rectifier K+ channel KIR3.4, potassium inwardly-rectifying channel J5"
- Cross-references: NCBI: 3762, Ensembl: ENSG00000120457
-
Evidence:
- Pubmed Ids:
- HuGE Navigator Score: None
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: GeneCards
-
CYP2C19
- Genotator Score: 0.0
- Description: "cytochrome P450, family 2, subfamily C, polypeptide 19"
- Chromosome: 10, Band: 10q24.1-q24.3
- Gene Synonyms: CPCJ, CYP2C, P450C2C, P450IIC19
- Other Descriptions: "OTTHUMP00000020132, OTTHUMP00000059588, S-mephenytoin 4-hydroxylase, cytochrome P-450 II C, cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 19, flavoprotein-linked monooxygenase, mephenytoin 4'-hydroxylase, microsomal monooxygenase, xenobiotic monooxygenase"
- Cross-references: NCBI: 1557, Ensembl: ENSG00000165841
-
Evidence:
- Pubmed Ids:
- HuGE Navigator Score: None
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: PharmGKB
-
KCNMA1
- Genotator Score: 0.0
- Description: "potassium large conductance calcium-activated channel, subfamily M, alpha member 1"
- Chromosome: 10, Band: 10q22.3
- Gene Synonyms: BKTM, DKFZp686K1437, KCa1.1, MGC71881, MaxiK, SAKCA, SLO, SLO-ALPHA, SLO1, bA205K10.1, mSLO1
- Other Descriptions: BKCA alpha subunit, Drosophila slowpoke-like, OTTHUMP00000019904, OTTHUMP00000060198, OTTHUMP00000064154, OTTHUMP00000064155, OTTHUMP00000064156, OTTHUMP00000064157, OTTHUMP00000064158, OTTHUMP00000064159, OTTHUMP00000064160, OTTHUMP00000064161, OTTHUMP00000064162, OTTHUMP00000064164, OTTHUMP00000064165, large conductance calcium-activated potassium channel subfamily M alpha member 1, stretch-activated Kca channel
- Cross-references: NCBI: 3778, Ensembl: ENSG00000156113
-
Evidence:
- Pubmed Ids:
- HuGE Navigator Score: None
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: GeneCards
- ARVD3
- ARVD4
- ARVD6
-
CYP27A1
- Genotator Score: 0.0
- Description: "cytochrome P450, family 27, subfamily A, polypeptide 1"
- Chromosome: 2, Band: 2q33-qter
- Gene Synonyms: CP27, CTX, CYP27
- Other Descriptions: "5-beta-cholestane-3-alpha, 7-alpha, 12-alpha-triol 26-hydroxylase, 5-beta-cholestane-3-alpha, 7-alpha, 12-alpha-triol 27-hydroxylase, cholestanetriol 26-monooxygenase, cytochrome P-450C27/25, cytochrome P450, subfamily XXVIIA (steroid 27-hydroxylase, cerebrotendinous xanthomatosis), polypeptide 1, sterol 26-hydroxylase, sterol 27-hydroxylase, vitamin D(3) 25-hydroxylase"
- Cross-references: NCBI: 1593, Ensembl: ENSG00000135929
-
Evidence:
- Pubmed Ids:
- HuGE Navigator Score: None
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: GeneCards
-
NPPB
- Genotator Score: 0.0
- 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:
- HuGE Navigator Score: None
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: GeneCards
-
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
-
ETFDH
- Genotator Score: 0.0
- Description: electron-transferring-flavoprotein dehydrogenase
- Chromosome: 4, Band: 4q32-q35
- Gene Synonyms: ETFQO, MADD
- Other Descriptions: ETF dehydrogenase, ETF-ubiquinone oxidoreductase, electron transfer flavoprotein ubiquinone oxidoreductase
- Cross-references: NCBI: 2110, Ensembl: ENSG00000171503
-
Evidence:
- Pubmed Ids:
- HuGE Navigator Score: None
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: GeneCards
-
SERPINC1
- Genotator Score: 0.0
- Description: "serpin peptidase inhibitor, clade C (antithrombin), member 1"
- Chromosome: 1, Band: 1q23-q25.1
- Gene Synonyms: AT3, ATIII, MGC22579
- Other Descriptions: "OTTHUMP00000035393, antithrombin (aa 375-432), antithrombin III, coding sequence signal peptide antithrombin part 1, serine (or cysteine) proteinase inhibitor, clade C (antithrombin), member 1, serine-cysteine proteinase inhibitor clade C member 1, serpin peptidase inhibitor, clade C, member 1, signal peptide antithrombin part 1"
- Cross-references: NCBI: 462, Ensembl: ENSG00000117601
-
Evidence:
- Pubmed Ids:
- HuGE Navigator Score: None
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: GeneCards
-
KCNE3
- Genotator Score: 0.0
- 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: None
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: GenAtlas
- MMVP1
-
NPR1
- Genotator Score: 0.0
- Description: natriuretic peptide receptor A/guanylate cyclase A (atrionatriuretic peptide receptor A)
- Chromosome: 1, Band: 1q21-q22
- Gene Synonyms: ANPRA, ANPa, GUC2A, GUCY2A, NPRA
- Other Descriptions: OTTHUMP00000035155, atrionatriuretic peptide receptor A, guanylate cyclase A, natriuretic peptide A type receptor, natriuretic peptide receptor 1, natriuretic peptide receptor A
- Cross-references: NCBI: 4881, Ensembl: ENSG00000169418
-
Evidence:
- Pubmed Ids:
- HuGE Navigator Score: None
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: GeneCards
-
NLRP12
- Genotator Score: 0.0
- Description: "NLR family, pyrin domain containing 12"
- Chromosome: 19, Band: 19q13.41
- Gene Synonyms: CLR19.3, FCAS2, NALP12, PAN6, PYPAF7, RNO, RNO2
- Other Descriptions: "NACHT, LRR and PYD containing protein 12, NACHT, leucine rich repeat and PYD containing 12, OTTHUMP00000067226, PYRIN-containing APAF1-like protein 7, monarch 1, nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 12, regulated by nitric oxide"
- Cross-references: NCBI: 91662, Ensembl: ENSG00000142405
-
Evidence:
- Pubmed Ids:
- HuGE Navigator Score: None
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: WikiGenes
-
ENAH
- Genotator Score: 0.0
- Description: enabled homolog (Drosophila)
- Chromosome: 1, Band: 1q42.12
- Gene Synonyms: ENA, MENA, NDPP1
- Other Descriptions: OTTHUMP00000035863, enabled homolog
- Cross-references: NCBI: 55740, Ensembl: ENSG00000154380
-
Evidence:
- Pubmed Ids:
- HuGE Navigator Score: None
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: WikiGenes
-
TGFB3
- Genotator Score: 0.0
- Description: "transforming growth factor, beta 3"
- Chromosome: 14, Band: 14q24
- Gene Synonyms: ARVD, FLJ16571, TGF-beta3
- Other Descriptions:
- Cross-references: NCBI: 7043, Ensembl: ENSG00000119699
- Evidence:
-
APOA1
- Genotator Score: 0.0
- Description: apolipoprotein A-I
- Chromosome: 11, Band: 11q23-q24
- Gene Synonyms: MGC117399
- Other Descriptions: OTTHUMP00000069346, OTTHUMP00000069347, OTTHUMP00000069348
- Cross-references: NCBI: 335, Ensembl: ENSG00000118137
-
Evidence:
- Pubmed Ids:
- HuGE Navigator Score: None
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: GeneCards
-
CPOX
- Genotator Score: 0.0
- Description: coproporphyrinogen oxidase
- Chromosome: 3, Band: 3q12
- Gene Synonyms: CPO, CPX, HCP
- Other Descriptions: "coproporphyrinogen oxidase (coproporphyria, harderoporphyria)"
- Cross-references: NCBI: 1371, Ensembl: ENSG00000080819
-
Evidence:
- Pubmed Ids:
- HuGE Navigator Score: None
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: GeneCards
-
MB
- Genotator Score: 0.0
- Description: myoglobin
- Chromosome: 22, Band: 22q13.1
- Gene Synonyms: MGC13548, PVALB
- Other Descriptions:
- Cross-references: NCBI: 4151, Ensembl: ENSG00000198125
-
Evidence:
- Pubmed Ids:
- HuGE Navigator Score: None
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: GeneCards
-
NR0B1
- Genotator Score: 0.0
- Description: "nuclear receptor subfamily 0, group B, member 1"
- Chromosome: X, Band: Xp21.3-p21.2
- Gene Synonyms: AHC, AHCH, AHX, DAX-1, DAX1, DSS, GTD, HHG, NROB1
- Other Descriptions: OTTHUMP00000023102, nuclear hormone receptor
- Cross-references: NCBI: 190, Ensembl: ENSG00000169297
-
Evidence:
- Pubmed Ids:
- HuGE Navigator Score: None
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: GeneCards
-
CCL2
- Genotator Score: 0.0
- 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:
- HuGE Navigator Score: None
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: GeneCards
-
FGA
- Genotator Score: 0.0
- Description: fibrinogen alpha chain
- Chromosome: 4, Band: 4q28
- Gene Synonyms: Fib2, MGC119422, MGC119423, MGC119425
- Other Descriptions: "fibrinogen, A alpha polypeptide, fibrinogen, alpha chain, isoform alpha preproprotein, fibrinogen, alpha polypeptide"
- Cross-references: NCBI: 2243, Ensembl: ENSG00000171560
-
Evidence:
- Pubmed Ids:
- HuGE Navigator Score: None
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: GeneCards
-
ALB
- Genotator Score: 0.0
- Description: albumin
- Chromosome: 4, Band: 4q11-q13
- Gene Synonyms: DKFZp779N1935, PRO0883, PRO0903, PRO1341
- Other Descriptions: cell growth inhibiting protein 42, growth-inhibiting protein 20, serum albumin
- Cross-references: NCBI: 213, Ensembl: ENSG00000163631
-
Evidence:
- Pubmed Ids:
- HuGE Navigator Score: None
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: GeneCards
-
LIAS
- Genotator Score: 0.0
- Description: lipoic acid synthetase
- Chromosome: 4, Band: 4p14
- Gene Synonyms: HUSSY-01, LAS, LIP1, MGC23245
- Other Descriptions: lipoate synthase
- Cross-references: NCBI: 11019, Ensembl: ENSG00000121897
-
Evidence:
- Pubmed Ids:
- HuGE Navigator Score: None
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: WikiGenes
-
TET1
- Genotator Score: 0.0
- Description: tet oncogene 1
- Chromosome: 10, Band: 10q21
- Gene Synonyms: CXXC6, FLJ10839, FLJ41442, KIAA1676, LCX, bA119F7.1
- Other Descriptions: CXXC finger 6, OTTHUMP00000019708, OTTHUMP00000060749, leukemia-associated protein with a CXXC domain, ten-eleven translocation-1
- Cross-references: NCBI: 80312, Ensembl: ENSG00000138336
-
Evidence:
- Pubmed Ids:
- HuGE Navigator Score: None
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: WikiGenes
-
ANKH
- Genotator Score: 0.0
- Description: "ankylosis, progressive homolog (mouse)"
- Chromosome: 5, Band: 5p15.1
- Gene Synonyms: ANK, CCAL2, CMDJ, CPPDD, FLJ27166, HANK, MANK
- Other Descriptions: progressive ankylosis protein
- Cross-references: NCBI: 56172, Ensembl: ENSG00000154122
-
Evidence:
- Pubmed Ids:
- HuGE Navigator Score: None
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: WikiGenes
-
GLS
- Genotator Score: 0.0
- Description: glutaminase
- Chromosome: 2, Band: 2q32-q34
- Gene Synonyms: AAD20, DKFZp686O15119, FLJ10358, GLS1, KIAA0838
- Other Descriptions: "K-glutaminase, L-glutamine amidohydrolase, glutaminase C, glutaminase, phosphate-activated"
- Cross-references: NCBI: 2744, Ensembl: ENSG00000115419
-
Evidence:
- Pubmed Ids:
- HuGE Navigator Score: None
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: WikiGenes
-
CPT2
- Genotator Score: 0.0
- Description: carnitine palmitoyltransferase 2
- Chromosome: 1, Band: 1p32
- Gene Synonyms: CPT1, CPTASE
- Other Descriptions: OTTHUMP00000010493, carnitine O-palmitoyltransferase, carnitine palmitoyltransferase II
- Cross-references: NCBI: 1376, Ensembl: ENSG00000157184
-
Evidence:
- Pubmed Ids:
- HuGE Navigator Score: None
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: WikiGenes
-
PNMT
- Genotator Score: 0.0
- Description: phenylethanolamine N-methyltransferase
- Chromosome: 17, Band: 17q21-q22
- Gene Synonyms: MGC34570, PENT, PNMTase
- Other Descriptions: OTTHUMP00000164271, noradrenaline N-methyltransferase, phenylethanolamine N-methylase
- Cross-references: NCBI: 5409, Ensembl: ENSG00000141744
-
Evidence:
- Pubmed Ids:
- HuGE Navigator Score: None
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: GeneCards
-
CRP
- Genotator Score: 0.0
- Description: "C-reactive protein, pentraxin-related"
- Chromosome: 1, Band: 1q21-q23
- Gene Synonyms: MGC149895, MGC88244, PTX1
- Other Descriptions: OTTHUMP00000033307
- Cross-references: NCBI: 1401, Ensembl: ENSG00000132693
-
Evidence:
- Pubmed Ids:
- HuGE Navigator Score: None
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: GeneCards
-
TRPM4
- Genotator Score: 0.0
- Description: "transient receptor potential cation channel, subfamily M, member 4"
- Chromosome: 19, Band: 19q13.33
- Gene Synonyms: FLJ20041, TRPM4B
- Other Descriptions:
- Cross-references: NCBI: 54795, Ensembl: ENSG00000130529
-
Evidence:
- Pubmed Ids:
- HuGE Navigator Score: None
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: GeneCards
-
ACADL
- Genotator Score: 0.0
- Description: "acyl-Coenzyme A dehydrogenase, long chain"
- Chromosome: 2, Band: 2q34-q35
- Gene Synonyms: ACAD4, FLJ94052, LCAD
- Other Descriptions: long-chain acyl-CoA dehydrogenase
- Cross-references: NCBI: 33, Ensembl: ENSG00000115361
-
Evidence:
- Pubmed Ids:
- HuGE Navigator Score: None
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: GenAtlas
-
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:
-
PF4
- Genotator Score: 0.0
- Description: platelet factor 4
- Chromosome: 4, Band: 4q12-q21
- Gene Synonyms: CXCL4, MGC138298, SCYB4
- Other Descriptions: chemokine (C-X-C motif) ligand 4, platelet factor 4 (chemokine (C-X-C motif) ligand 4)
- Cross-references: NCBI: 5196, Ensembl: ENSG00000163737
-
Evidence:
- Pubmed Ids:
- HuGE Navigator Score: None
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: GeneCards
-
GRAMD4
- Genotator Score: 0.0
- Description: GRAM domain containing 4
- Chromosome: 22, Band: 22q13.31
- Gene Synonyms: DIP, KIAA0767, MGC149847, MGC90497, dA59H18.1, dJ439F8.1
- Other Descriptions: OTTHUMP00000028695, death-inducing-protein
- Cross-references: NCBI: 23151, Ensembl: ENSG00000075240
-
Evidence:
- Pubmed Ids:
- HuGE Navigator Score: None
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: PharmGKB
-
CDC2L6
- Genotator Score: 0.0
- Description: cell division cycle 2-like 6 (CDK8-like)
- Chromosome: 6, Band: 6q21
- Gene Synonyms: CDK11, KIAA1028, bA346C16.3
- Other Descriptions: CDK8-like cyclin-dependent kinase, OTTHUMP00000017005, OTTHUMP00000040460, cyclin-dependent kinase (CDC2-like) 11, death-preventing kinase
- Cross-references: NCBI: 23097, Ensembl: ENSG00000155111
-
Evidence:
- Pubmed Ids:
- HuGE Navigator Score: None
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: PharmGKB
-
FBN1
- Genotator Score: 0.0
- Description: fibrillin 1
- Chromosome: 15, Band: 15q21.1
- Gene Synonyms: FBN, MASS, MFS1, OCTD, SGS, WMS
- Other Descriptions: fibrillin 15
- Cross-references: NCBI: 2200, Ensembl: ENSG00000166147
-
Evidence:
- Pubmed Ids:
- HuGE Navigator Score: None
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: GeneCards
-
NUP155
- Genotator Score: 0.0
- Description: nucleoporin 155kDa
- Chromosome: 5, Band: 5p13.1
- Gene Synonyms: KIAA0791, N155
- Other Descriptions: nuclear pore complex protein Nup155
- Cross-references: NCBI: 9631, Ensembl: ENSG00000113569
-
Evidence:
- Pubmed Ids:
- HuGE Navigator Score: None
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: GenAtlas
-
ADIPOQ
- Genotator Score: 0.0
- 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: 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:
-
SP4
- Genotator Score: 0.0
- Description: Sp4 transcription factor
- Chromosome: 7, Band: 7p15.3
- Gene Synonyms: HF1B, MGC130008, MGC130009, SPR-1
- Other Descriptions:
- Cross-references: NCBI: 6671, Ensembl: ENSG00000105866
-
Evidence:
- Pubmed Ids:
- HuGE Navigator Score: None
- GAD counts: yes=0, no=0, null=0
- Evidence Sources: WikiGenes