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Data Page / Candidate Gene List

showing CardioGenomics data available for the 148 candidate genes, sorted by gene symbol.

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Symbol Name Phenotype- genotype association SNP discovery SNP genotyping raw SNP genotypes LD structure Sarcomere mutations cDNA clones FHS genotyping status Chromosome
ACE Angiotensin Converting Enzyme data data data data data     tag SNPs and missense SNPs 17q23
ACTC Cardiac actin   data data data data data   tag SNPs and missense SNPs 15q11-q14
ADCY6 Adenylate cyclase 6 data data           missense SNPs only 12q13.12
ADCY9 adenylate cyclase 9   data data data       missense SNPs only 16p13.3
ADM Adrenomedulin data data data data data     tag SNPs and missense SNPs 11p15.4
ADRA1A Alpha 1A adrenergic receptor data data data data data     tag SNPs and missense SNPs 8p21-p11.2
ADRA1B Alpha 1B adrenergic receptor   data   data data     tag SNPs and missense SNPs 5q23-q32
ADRA1D Alpha 1D adrenergic receptor data   data data data     tag SNPs and missense SNPs 20p13
ADRB1 adrenergic, beta-1-, receptor       data data     tag SNPs and missense SNPs 10q24-q26
ADRB2 Beta 2 adrenergic receptor data data data data data     tag SNPs and missense SNPs 5q31-q32
Symbol Name Phenotype- genotype association SNP discovery SNP genotyping raw SNP genotypes LD structure Sarcomere mutations cDNA clones FHS genotyping status Chromosome
ADRBK1 Beta adrenergic receptor kinase 1   data data data       tag SNPs and missense SNPs in progress 11q13.2
ADRBK2 Adrenergic, beta, receptor kinase 2   data           tag SNPs and missense SNPs in progress 22q12.1
AGL amylo-1, 6-glucosidase, 4-alpha-glucanotransferase (glycogen debranching enzyme, glycogen storage disease type III) data data           missense SNPs only 1p21
AGT Angiotensinogen data data data data data     tag SNPs and missense SNPs 1q42-q43
AGTR1 Angiotensin receptor, type 1 data data data data data     tag SNPs and missense SNPs 3q21-q25
AGTR2 Angiotensin receptor, type 2 data data data data data     tag SNPs and missense SNPs Xq22-q23
AKT1 v-akt murine thymoma viral oncogene homolog 1   data         clone   14q32.32
AKT2 v-akt murine thymoma viral oncogene homolog 2   data             19q13.1-q13.2
ALMS1 Alstrom syndrome 1 data data           missense SNPs only 2p14-p13
ANK2 ankyrin 2, neuronal     data data         4q25-q27
Symbol Name Phenotype- genotype association SNP discovery SNP genotyping raw SNP genotypes LD structure Sarcomere mutations cDNA clones FHS genotyping status Chromosome
ANKRD1 Cardiac ankyrin protein data data           missense SNPs only 17p11.2
ARHA ras homolog gene family, member A             clone   3p21.3
AVP Arginine vasopressin   data           tag SNPs and missense SNPs in progress 20p13
BAD BCL2-antagonist of cell death   data           missense SNPs only 11q12.1
BAX BCL2-associated X protein   data         clone   19q13.3-q13.4
BCL2 B-cell CLL/lymphoma 2             clone   18q21.3
CALM1 Calmodulin 1   data           tag SNPs and missense SNPs in progress 14q24-q31
CALM2 Calmodulin 2   data             2p21
CALM3 Calmodulin 3   data             19q13.2-q13.3
CASQ2 calsequestrin 2 (cardiac muscle) data data           tag SNPs and missense SNPs in progress 1p13.3-p11
Symbol Name Phenotype- genotype association SNP discovery SNP genotyping raw SNP genotypes LD structure Sarcomere mutations cDNA clones FHS genotyping status Chromosome
CAT catalase     data data         11p13
CCL2 chemokine (C-C motif) ligand 2 data data         clone tag SNPs and missense SNPs in progress 17q11.2-q21.1
COL3A1 collagen, type III, alpha 1 (Ehlers-Danlos syndrome type IV, autosomal dominant) data data           missense SNPs only 2q31-q32.3
CREB1 cAMP responsive element binding protein 1   data             2q32.3-q34
CRP C-reactive protein, pentraxin-related               tag SNPs and missense SNPs in progress 1q21-q23
CYBA cytochrome b-245, alpha polypeptide     data data       tag SNPs and missense SNPs in progress 16q24
DES desmin                 2q35
DSP desmoplakin (DPI, DPII) data data           missense SNPs only 6pter-p21
DTR diphtheria toxin receptor (heparin-binding epidermal growth factor-like growth factor)                 5q23
EDN1 Endothelin 1 data data           tag SNPs and missense SNPs in progress 6p24.1
Symbol Name Phenotype- genotype association SNP discovery SNP genotyping raw SNP genotypes LD structure Sarcomere mutations cDNA clones FHS genotyping status Chromosome
ELN elastin (supravalvular aortic stenosis, Williams-Beuren syndrome) data data data data       missense SNPs only 7q11.1-q21.1
FBN1 fibrillin 1 (Marfan syndrome) data data data data       tag SNPs and missense SNPs in progress 15q21.1
FBN2 fibrillin 2 (congenital contractural arachnodactyly) data data           missense SNPs only 5q23-q31
FHL1 four and a half LIM domains 1   data data data          
FHL2 four and a half LIM domains 2     data data         2q12-2q14
FHL3 four and a half LIM domains 3     data data          
FRAP1 FK506 binding protein 12-rapamycin associated protein 1   data           missense SNPs only 1p36.3-p36.2
FYN FYN oncogene related to SRC, FGR, YES data data           missense SNPs only 6q21
GAA glucosidase, alpha; acid (Pompe disease, glycogen storage disease type II) data             missense SNPs only 17q23
GATA4 GATA binding protein 4 data data           missense SNPs only 8p23.1-p22
Symbol Name Phenotype- genotype association SNP discovery SNP genotyping raw SNP genotypes LD structure Sarcomere mutations cDNA clones FHS genotyping status Chromosome
GBE1 glucan (1,4-alpha-), branching enzyme 1 (glycogen branching enzyme, Andersen disease, glycogen storage disease type IV) data data           missense SNPs only 3
GNAI1 Guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 1   data             7q21
GNAI2 Guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 2   data             3p21
GNAQ Guanine nucleotide binding protein (G protein), q polypeptide data data           missense SNPs only 9q21
GNAS Guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1 data data data data       missense SNPs only 20q13.2-q13.3
HMOX1 heme oxygenase (decycling) 1     data data         22q12
HRAS v-Ha-ras Harvey rat sarcoma viral oncogene homolog   data         clone   11p15.5
ICAM1 intercellular adhesion molecule 1 (CD54), human rhinovirus receptor                 19p13.3-p13.2
IGF1 Insulin-like growth factor 1 data data data data     clone tag SNPs and missense SNPs in progress 12q22-q23
IL1B Interleukin 1, beta   data         clone tag SNPs and missense SNPs in progress 2q14
Symbol Name Phenotype- genotype association SNP discovery SNP genotyping raw SNP genotypes LD structure Sarcomere mutations cDNA clones FHS genotyping status Chromosome
IL6R interleukin 6 receptor data data         clone tag SNPs and missense SNPs in progress 1
IL6ST Interleukin 6 signal transducer (gp130,oncostatin M receptor) data data data data       tag SNPs and missense SNPs in progress 5q11
KBTBD10 Sarcomeric muscle protein data data data data       missense SNPs only 2q31.1
KCNE1 potassium voltage-gated channel, Isk-related family, member 1     data data         21q22.1-q22.2
KCNE2 potassium voltage-gated channel, Isk-related family, member 2     data data         21q22.1
KCNH2 potassium voltage-gated channel, subfamily H (eag-related), member 2 data data data data         7q35-q36
KCNQ1 potassium voltage-gated channel, KQT-like subfamily, member 1 data data data data         11p15.5
LIFR Leukemia inhibitory factor receptor data data data data data     tag SNPs and missense SNPs 5p13-p12
LMNA lamin A/C   data           tag SNPs and missense SNPs in progress 1q21.2-q21.3
MAP2K1 mitogen-activated protein kinase kinase 1   data             15q22.1-q22.33
Symbol Name Phenotype- genotype association SNP discovery SNP genotyping raw SNP genotypes LD structure Sarcomere mutations cDNA clones FHS genotyping status Chromosome
MAP2K4 Mitogen-activated protein kinase kinase 4   data         clone   17p11.2
MAP2K5 mitogen-activated protein kinase kinase 5   data           missense SNPs only  
MAP2K6 Mitogen-activated protein kinase kinase 6   data         clone   17q24.3-q25.1
MAPK1 Mitogen-activated protein kinase 1   data             22q11.21
MAPK14 Mitogen-activated protein kinase 14   data             6p21.3-p21.2
MAPK8 Mitogen-activated protein kinase 8   data data data     clone   10q11.1
MARCKSL1 MARCKS-like protein   data             1p34
MEF2A Myocyte enhancer factor 2A   data             15q26
MEF2B Myocyte enhancer factor 2B   data             19p12
MEF2C Myocyte enhancer factor 2C   data             5q14
Symbol Name Phenotype- genotype association SNP discovery SNP genotyping raw SNP genotypes LD structure Sarcomere mutations cDNA clones FHS genotyping status Chromosome
MEF2D Myocyte enhancer factor 2D   data             1q12-q23
MMP2 matrix metalloproteinase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)   data             16q13-q21
MMP9 matrix metalloproteinase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)   data           tag SNPs and missense SNPs in progress 20q12-q13
MPO myeloperoxidase data data data data       tag SNPs and missense SNPs in progress 17q21.3-q23
MYBPC3 Cardiac myosin binding protein C data data data data data data   tag SNPs and missense SNPs 11p11.2
MYH6 myosin, heavy polypeptide 6, cardiac muscle, alpha (cardiomyopathy, hypertrophic 1) data data data data       missense SNPs only 14q11.2-q13
MYH7 beta-cardiac myosin heavy chain data data data data data data   tag SNPs and missense SNPs 14q12
MYL1 Myosin regulatory light chain 1 data   data data data     tag SNPs and missense SNPs 2q33-q34
MYL2 Myosin regulatory light chain data   data data data data   tag SNPs and missense SNPs 12q23-q24.3
MYL3 myosin essential light chain, cardiac data data data data data data   tag SNPs and missense SNPs 3p21.3-p21.2
Symbol Name Phenotype- genotype association SNP discovery SNP genotyping raw SNP genotypes LD structure Sarcomere mutations cDNA clones FHS genotyping status Chromosome
MYLK2 myosin light chain kinase 2, skeletal muscle   data data data         20q13.31
MYOCD myocardin data data           missense SNPs only 17p11.2
NFATC4 Nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4   data             14q11.2
NGFB Nerve growth factor beta data data data data       missense SNPs only 1p13.1
NGFR Nerve growth factor receptor   data data data         17q21-q22
NKX2-5 NK2 transcription factor related, locus 5   data           missense SNPs only 5q34
NOS2A Nitric oxidase synthase 2A (inducible) data data data data       tag SNPs and missense SNPs in progress 17q11.2-q12
NOS3 Nitric oxidase synthase 3(endothelial) data data data data data     tag SNPs and missense SNPs 7q36
NPPA Atrial natriuretic peptide (ANP) data data data data data     tag SNPs and missense SNPs 1p36.2
NPPB Brain natriuretic peptide (BNP) data data data data data     tag SNPs and missense SNPs 1p36.2
Symbol Name Phenotype- genotype association SNP discovery SNP genotyping raw SNP genotypes LD structure Sarcomere mutations cDNA clones FHS genotyping status Chromosome
NPR1 Natriuretic peptide receptor A/guanylate cyclase A (atrionatriuretic peptide receptor A) data data   data data     tag SNPs and missense SNPs 1q21-q22
NPR2 Natriuretic peptide receptor B/guanylate cyclase B (atrionatriuretic peptide receptor B) data data data data data     tag SNPs and missense SNPs 9p21-p12
NRG1 Neuregulin 1   data             8p21-p12
NRG2 Neuregulin 2                 5q23-q33
PIK3CA phosphoinositide-3-kinase, catalytic, alpha polypeptide data data           missense SNPs only 3q26.3
PIK3CB phosphoinositide-3-kinase, catalytic, beta polypeptide   data             3q21-qter
PIK3CD phosphoinositide-3-kinase, catalytic, delta polypeptide   data             1p36.2
PIK3CG phosphoinositide-3-kinase, catalytic, gamma polypeptide data data data data       tag SNPs and missense SNPs in progress 7q22.3
PIK3R1 Phosphoinositide-3-kinase, regulatory subunit, polypeptide 1   data             5q12-q13
PIK3R2 Phosphoinositide-3-kinase, regulatory subunit, polypeptide 2 data data data data       missense SNPs only 19q13.2-q13.4
Symbol Name Phenotype- genotype association SNP discovery SNP genotyping raw SNP genotypes LD structure Sarcomere mutations cDNA clones FHS genotyping status Chromosome
PIK3R3 Phosphoinositide-3-kinase, regulatory subunit, polypeptide 3   data             1p33
PLN phospholamban   data           tag SNPs and missense SNPs in progress 6
PON1 paraoxonase 1   data data data         7q21-q22
PPARG peroxisome proliferator-activated receptor-gamma data data     data   clone tag SNPs and missense SNPs in progress 3p25
PPP3CA Calcineurin A alpha   data             4q21-q24
PPP3CB Calcineurin A beta   data             10q21-q22
PPP3CC protein phosphatase 3 (formerly 2B), catalytic subunit, gamma isoform (calcineurin A gamma)   data           missense SNPs only 8
PPP3R1 Calcineurin B   data             2p15
PRKACA Protein kinase, cAMP-dependent, catalytic, alpha   data             19p13.1
PRKACB Protein kinase, cAMP-dependent, catalytic, beta   data data data         1p36.1
Symbol Name Phenotype- genotype association SNP discovery SNP genotyping raw SNP genotypes LD structure Sarcomere mutations cDNA clones FHS genotyping status Chromosome
PRKACG Protein kinase, cAMP-dependent, catalytic, gamma data data           missense SNPs only 9q13
PRKAG2 protein kinase, AMP-activated, gamma 2 non-catalytic subunit   data data data         7q35-q36
PRKAR1A Protein kinase, cAMP-dependent, regulatory, type I, alpha   data             17q23-q24
PRKAR1B Protein kinase, cAMP-dependent, regulatory, type I, beta                 7pter-p22
PRKAR2A Protein kinase, cAMP-dependent, regulatory, type II, alpha                 3p21.3-p21.2
PRKAR2B Protein kinase, cAMP-dependent, regulatory, type II, beta data data data data       missense SNPs only 7q22-q31.1
PRKCB1 protein kinase C, beta 1   data             16p12
RAC1 ras-related C3 botulinum toxin substrate 1 (rho family, small GTP binding protein Rac1)   data             7p22
RAF1 v-raf-1 murine leukemia viral oncogene homolog 1   data         clone   3p25
REN Renin data data data data data     tag SNPs and missense SNPs 1q32
Symbol Name Phenotype- genotype association SNP discovery SNP genotyping raw SNP genotypes LD structure Sarcomere mutations cDNA clones FHS genotyping status Chromosome
RYR2 ryanodine receptor 2 (cardiac)                 1
SCN5A sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)     data data         3p21
SERPINE1 serine (or cysteine) proteinase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1 data           clone   7q21.3-q22
SOD1 superoxide dismutase 1, soluble (amyotrophic lateral sclerosis 1 (adult))   data data data         21q22.1
SOD2 superoxide dismutase 2, mitochondrial data   data data       tag SNPs and missense SNPs in progress 6q25
SOD3 superoxide dismutase 3, extracellular               tag SNPs and missense SNPs in progress 4pter-q21
SRC v-src sarcoma (Schmidt-Ruppin A-2) viral oncogene homolog (avian)   data             20q12-q13
SRF Serum response factor   data             6p21.31
TBX5 T-box 5   data             12q24.1
TIMP1 tissue inhibitor of metalloproteinase 1 (erythroid potentiating activity, collagenase inhibitor)   data           tag SNPs and missense SNPs in progress Xp11.3-p11.23
Symbol Name Phenotype- genotype association SNP discovery SNP genotyping raw SNP genotypes LD structure Sarcomere mutations cDNA clones FHS genotyping status Chromosome
TMOD3 tropomodulin 3 (ubiquitous)   data             15q21.1-.2
TMOD4 tropomodulin 4 (muscle) data data           missense SNPs only 1q12
TNF Tumor necrosis factor (TNF superfamily, member 2)   data         clone tag SNPs and missense SNPs in progress 6p21.3
TNFSF4 tumor necrosis factor (ligand) superfamily, member 4 (tax-transcriptionally activated glycoprotein 1, 34kDa     data           1q25
TNNI3 Cardiac troponin I   data data data data data   tag SNPs and missense SNPs 19q13.4
TNNT2 Cardiac troponin T2 data data data data data data   tag SNPs and missense SNPs 1q32
TPM1 Tropomyosin 1 (alpha) data data data data data data   tag SNPs and missense SNPs 15q22.1
VEGF Vascular endothelial growth factor   data         clone   6p12





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