Right Ventricular Hypertrophy Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description In this case the right ventricle is more muscular than normal, causing a characteristic boot-shaped (coeur-en-sabot) appearance as seen on anterior- posterior chest x-rays. Right ventricular hypertrophy is commonly associated with any form of right ventricular outflow obstruction or pulmonary hypertension, which may in turn owe its origin to left-sided disease. The echocardiographic signs are thickening of the anterior right ventricular wall and the septum. Cavity size is usually normal, or slightly enlarged. In many cases there is associated volume overload present due to tricuspid regurgitation, in the absence of this, septal motion is normal. (Human Phenotype Ontology, HP_0001667)
External Link https://www.disgenet.org/browser/0/1/0/C0162770
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Genes

152 genes associated with the disease Right Ventricular Hypertrophy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
ACE angiotensin I converting enzyme
AGT angiotensinogen (serpin peptidase inhibitor, clade A, member 8)
AGTR1 angiotensin II receptor, type 1
AHSA1 AHA1, activator of heat shock 90kDa protein ATPase homolog 1 (yeast)
AIMP2 aminoacyl tRNA synthetase complex-interacting multifunctional protein 2
AKT1 v-akt murine thymoma viral oncogene homolog 1
ARSA arylsulfatase A
ATIC 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase
ATOH8 atonal homolog 8 (Drosophila)
BMPR2 bone morphogenetic protein receptor, type II (serine/threonine kinase)
CA9 carbonic anhydrase IX
CCL2 chemokine (C-C motif) ligand 2
CCN1 cellular communication network factor 1
CDKN1A cyclin-dependent kinase inhibitor 1A (p21, Cip1)
COLQ collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase
COX3
CRK v-crk avian sarcoma virus CT10 oncogene homolog
CSF3 colony stimulating factor 3 (granulocyte)
CSRP3 cysteine and glycine-rich protein 3 (cardiac LIM protein)
CXCL12 chemokine (C-X-C motif) ligand 12
CXCL8 chemokine (C-X-C motif) ligand 8
CYBB cytochrome b-245, beta polypeptide
DDAH1 dimethylarginine dimethylaminohydrolase 1
DNMT1 DNA (cytosine-5-)-methyltransferase 1
DYSF dysferlin
EDN1 endothelin 1
EDNRB endothelin receptor type B
ELN elastin
EPAS1 endothelial PAS domain protein 1
EPHB2 EPH receptor B2
ESR2 estrogen receptor 2 (ER beta)
EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit
FASN fatty acid synthase
FGF21 fibroblast growth factor 21
FOXM1 forkhead box M1
FSTL1 follistatin-like 1
FZD4 frizzled class receptor 4
GDF2 growth differentiation factor 2
GPR151 G protein-coupled receptor 151
GPRC5C G protein-coupled receptor, class C, group 5, member C
GPRC5D G protein-coupled receptor, class C, group 5, member D
GPRC6A G protein-coupled receptor, class C, group 6, member A
GRAP2 GRB2-related adaptor protein 2
GRK2 G protein-coupled receptor kinase 2
HAND2 heart and neural crest derivatives expressed 2
HDAC1 histone deacetylase 1
HDAC5 histone deacetylase 5
HEXIM1 hexamethylene bis-acetamide inducible 1
HIF1A hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)
HMOX1 heme oxygenase 1
IFNA1 interferon, alpha 1
IFNA13 interferon, alpha 13
IGF1 insulin-like growth factor 1 (somatomedin C)
IGF1R insulin-like growth factor 1 receptor
IL10 interleukin 10
IL13 interleukin 13
IL33 interleukin 33
IL4 interleukin 4
IL6 interleukin 6
KCNK3 potassium channel, two pore domain subfamily K, member 3
KEAP1 kelch-like ECH-associated protein 1
KLF4 Kruppel-like factor 4 (gut)
LAMB2 laminin, beta 2 (laminin S)
LEPR leptin receptor
LGR6 leucine-rich repeat containing G protein-coupled receptor 6
LPAR3 lysophosphatidic acid receptor 3
MAPK1 mitogen-activated protein kinase 1
MAPK14 mitogen-activated protein kinase 14
MAPK8 mitogen-activated protein kinase 8
MCAT malonyl CoA:ACP acyltransferase (mitochondrial)
MCPH1 microcephalin 1
MED13 mediator complex subunit 13
MMP2 matrix metallopeptidase 2
MMP9 matrix metallopeptidase 9
MMRN1 multimerin 1
MRGPRX1 MAS-related GPR, member X1
MRGPRX3 MAS-related GPR, member X3
MRGPRX4 MAS-related GPR, member X4
MTOR mechanistic target of rapamycin (serine/threonine kinase)
MTPN myotrophin
MYH4 myosin, heavy chain 4, skeletal muscle
MYH7 myosin, heavy chain 7, cardiac muscle, beta
NFATC2 nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2
NFE2L2 nuclear factor, erythroid 2-like 2
NIPBL Nipped-B homolog (Drosophila)
NLRP3 NLR family, pyrin domain containing 3
NOD2 nucleotide-binding oligomerization domain containing 2
NONO non-POU domain containing, octamer-binding
NOS1 nitric oxide synthase 1 (neuronal)
NOS3 nitric oxide synthase 3 (endothelial cell)
NOTCH1 notch 1
NOX1 NADPH oxidase 1
NOX4 NADPH oxidase 4
NPPA natriuretic peptide A
NRF1 nuclear respiratory factor 1
NSD2 nuclear receptor binding SET domain protein 2
ORAI1 ORAI calcium release-activated calcium modulator 1
OXER1 oxoeicosanoid (OXE) receptor 1
PDE5A phosphodiesterase 5A, cGMP-specific
PDK1 pyruvate dehydrogenase kinase, isozyme 1
PIGN phosphatidylinositol glycan anchor biosynthesis, class N
PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
PIK3CB phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta
PIK3CD phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta
PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma
PLAT plasminogen activator, tissue
PMEL premelanosome protein
POLDIP2 polymerase (DNA-directed), delta interacting protein 2
PPARG peroxisome proliferator-activated receptor gamma
PPARGC1A peroxisome proliferator-activated receptor gamma, coactivator 1 alpha
PPIA peptidylprolyl isomerase A (cyclophilin A)
PPP3CA protein phosphatase 3, catalytic subunit, alpha isozyme
PPP3CB protein phosphatase 3, catalytic subunit, beta isozyme
PRKAA1 protein kinase, AMP-activated, alpha 1 catalytic subunit
PRKAA2 protein kinase, AMP-activated, alpha 2 catalytic subunit
PRKAB1 protein kinase, AMP-activated, beta 1 non-catalytic subunit
PRKAG2 protein kinase, AMP-activated, gamma 2 non-catalytic subunit
PRKCA protein kinase C, alpha
PRKCD protein kinase C, delta
PSMD11 proteasome (prosome, macropain) 26S subunit, non-ATPase, 11
PTEN phosphatase and tensin homolog
PTK2 protein tyrosine kinase 2
PTPN11 protein tyrosine phosphatase, non-receptor type 11
RELN reelin
REN renin
RGN regucalcin
RNF19A ring finger protein 19A, RBR E3 ubiquitin protein ligase
RYR2 ryanodine receptor 2 (cardiac)
SELENON selenoprotein N
SESN2 sestrin 2
SFTPB surfactant protein B
SGCG sarcoglycan, gamma (35kDa dystrophin-associated glycoprotein)
SIRT1 sirtuin 1
SLC16A1 solute carrier family 16 (monocarboxylate transporter), member 1
SLC9A1 solute carrier family 9, subfamily A (NHE1, cation proton antiporter 1), member 1
SOD2 superoxide dismutase 2, mitochondrial
STAMBP STAM binding protein
STIL SCL/TAL1 interrupting locus
SUCNR1 succinate receptor 1
TEK TEK tyrosine kinase, endothelial
TGFA transforming growth factor, alpha
TGFB1 transforming growth factor, beta 1
TLR4 toll-like receptor 4
TNC tenascin C
TRPC1 transient receptor potential cation channel, subfamily C, member 1
TRPC4 transient receptor potential cation channel, subfamily C, member 4
TTN titin
UCP2 uncoupling protein 2 (mitochondrial, proton carrier)
UCP3 uncoupling protein 3 (mitochondrial, proton carrier)
VEGFA vascular endothelial growth factor A
VIPAS39 VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog
VPS33B vacuolar protein sorting 33 homolog B (yeast)