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Data Page / Candidate Gene List

showing CardioGenomics data available for the 60 genes in which phenotype-genotype association and/or gene-environment interaction studies have been completed for cardiac structure and function, sorted by gene symbol.

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More CardioGenomics data can be accessed from this page.

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
ADCY6 Adenylate cyclase 6 data data           missense SNPs only 12q13.12
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
ADRA1D Alpha 1D adrenergic receptor data   data data data     tag SNPs and missense SNPs 20p13
ADRB2 Beta 2 adrenergic receptor data data data data data     tag SNPs and missense SNPs 5q31-q32
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
Symbol Name Phenotype- genotype association SNP discovery SNP genotyping raw SNP genotypes LD structure Sarcomere mutations cDNA clones FHS genotyping status Chromosome
ALMS1 Alstrom syndrome 1 data data           missense SNPs only 2p14-p13
ANKRD1 Cardiac ankyrin protein data data           missense SNPs only 17p11.2
CASQ2 calsequestrin 2 (cardiac muscle) data data           tag SNPs and missense SNPs in progress 1p13.3-p11
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
DSP desmoplakin (DPI, DPII) data data           missense SNPs only 6pter-p21
EDN1 Endothelin 1 data data           tag SNPs and missense SNPs in progress 6p24.1
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
Symbol Name Phenotype- genotype association SNP discovery SNP genotyping raw SNP genotypes LD structure Sarcomere mutations cDNA clones FHS genotyping status Chromosome
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
GBE1 glucan (1,4-alpha-), branching enzyme 1 (glycogen branching enzyme, Andersen disease, glycogen storage disease type IV) data data           missense SNPs only 3
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
IGF1 Insulin-like growth factor 1 data data data data     clone tag SNPs and missense SNPs in progress 12q22-q23
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
Symbol Name Phenotype- genotype association SNP discovery SNP genotyping raw SNP genotypes LD structure Sarcomere mutations cDNA clones FHS genotyping status Chromosome
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
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
MYOCD myocardin data data           missense SNPs only 17p11.2
NGFB Nerve growth factor beta data data data data       missense SNPs only 1p13.1
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
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
PIK3CA phosphoinositide-3-kinase, catalytic, alpha polypeptide data data           missense SNPs only 3q26.3
PIK3CG phosphoinositide-3-kinase, catalytic, gamma polypeptide data data data data       tag SNPs and missense SNPs in progress 7q22.3
Symbol Name Phenotype- genotype association SNP discovery SNP genotyping raw SNP genotypes LD structure Sarcomere mutations cDNA clones FHS genotyping status Chromosome
PIK3R2 Phosphoinositide-3-kinase, regulatory subunit, polypeptide 2 data data data data       missense SNPs only 19q13.2-q13.4
PPARG peroxisome proliferator-activated receptor-gamma data data     data   clone tag SNPs and missense SNPs in progress 3p25
PRKACG Protein kinase, cAMP-dependent, catalytic, gamma data data           missense SNPs only 9q13
PRKAR2B Protein kinase, cAMP-dependent, regulatory, type II, beta data data data data       missense SNPs only 7q22-q31.1
REN Renin data data data data data     tag SNPs and missense SNPs 1q32
SERPINE1 serine (or cysteine) proteinase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1 data           clone   7q21.3-q22
SOD2 superoxide dismutase 2, mitochondrial data   data data       tag SNPs and missense SNPs in progress 6q25
TMOD4 tropomodulin 4 (muscle) data data           missense SNPs only 1q12
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





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