abnormality of the heart valves Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description An abnormality of a Cardiac valve. (Human Phenotype Ontology, HP_0001654)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0001654
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Genes

204 genes associated with the abnormality of the heart valves phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
A2ML1 alpha-2-macroglobulin-like 1
ABCC6 ATP-binding cassette, sub-family C (CFTR/MRP), member 6
ABCC9 ATP-binding cassette, sub-family C (CFTR/MRP), member 9
ACSL4 acyl-CoA synthetase long-chain family member 4
ACTB actin, beta
ADAMTS10 ADAM metallopeptidase with thrombospondin type 1 motif, 10
ADAMTSL2 ADAMTS-like 2
ADK adenosine kinase
AGA aspartylglucosaminidase
AGGF1 angiogenic factor with G patch and FHA domains 1
AIP aryl hydrocarbon receptor interacting protein
AKT3 v-akt murine thymoma viral oncogene homolog 3
AMMECR1 Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1
ANK1 ankyrin 1, erythrocytic
ANKRD11 ankyrin repeat domain 11
ANKS6 ankyrin repeat and sterile alpha motif domain containing 6
ARHGAP31 Rho GTPase activating protein 31
ARSB arylsulfatase B
ARVCF armadillo repeat gene deleted in velocardiofacial syndrome
B3GALT6 UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 6
B3GALTL beta 1,3-galactosyltransferase-like
B3GAT3 beta-1,3-glucuronyltransferase 3
B4GALT7 xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7
BAZ1B bromodomain adjacent to zinc finger domain, 1B
BCOR BCL6 corepressor
BCR breakpoint cluster region
BRAF B-Raf proto-oncogene, serine/threonine kinase
BRCA2 breast cancer 2, early onset
BRIP1 BRCA1 interacting protein C-terminal helicase 1
C12ORF57 chromosome 12 open reading frame 57
C4A complement component 4A (Rodgers blood group)
CBL Cbl proto-oncogene, E3 ubiquitin protein ligase
CBS cystathionine-beta-synthase
CCDC22 coiled-coil domain containing 22
CCND2 cyclin D2
CEP57 centrosomal protein 57kDa
CHD7 chromodomain helicase DNA binding protein 7
CHRNG cholinergic receptor, nicotinic, gamma (muscle)
CHST3 carbohydrate (chondroitin 6) sulfotransferase 3
CLCN7 chloride channel, voltage-sensitive 7
CLIP2 CAP-GLY domain containing linker protein 2
COL1A1 collagen, type I, alpha 1
COL1A2 collagen, type I, alpha 2
COL2A1 collagen, type II, alpha 1
COL3A1 collagen, type III, alpha 1
COL5A1 collagen, type V, alpha 1
COL5A2 collagen, type V, alpha 2
COMT catechol-O-methyltransferase
COX7B cytochrome c oxidase subunit VIIb
CRKL v-crk avian sarcoma virus CT10 oncogene homolog-like
CRYAB crystallin, alpha B
CYP24A1 cytochrome P450, family 24, subfamily A, polypeptide 1
D2HGDH D-2-hydroxyglutarate dehydrogenase
DNASE1L3 deoxyribonuclease I-like 3
DOCK6 dedicator of cytokinesis 6
DTNA dystrobrevin, alpha
EFEMP2 EGF containing fibulin-like extracellular matrix protein 2
EHMT1 euchromatic histone-lysine N-methyltransferase 1
ELN elastin
EOGT EGF domain-specific O-linked N-acetylglucosamine (GlcNAc) transferase
ERCC4 excision repair cross-complementation group 4
ESCO2 establishment of sister chromatid cohesion N-acetyltransferase 2
EVC Ellis van Creveld protein
EVC2 Ellis van Creveld syndrome 2
FAM58A family with sequence similarity 58, member A
FANCA Fanconi anemia, complementation group A
FANCB Fanconi anemia, complementation group B
FANCC Fanconi anemia, complementation group C
FANCD2 Fanconi anemia, complementation group D2
FANCE Fanconi anemia, complementation group E
FANCF Fanconi anemia, complementation group F
FANCG Fanconi anemia, complementation group G
FANCI Fanconi anemia, complementation group I
FANCL Fanconi anemia, complementation group L
FANCM Fanconi anemia, complementation group M
FBLN5 fibulin 5
FBN1 fibrillin 1
FBN2 fibrillin 2
FKTN fukutin
FLNA filamin A, alpha
FMR1 fragile X mental retardation 1
FOXF1 forkhead box F1
G6PC3 glucose 6 phosphatase, catalytic, 3
GABRD gamma-aminobutyric acid (GABA) A receptor, delta
GALNS galactosamine (N-acetyl)-6-sulfatase
GATA4 GATA binding protein 4
GATA6 GATA binding protein 6
GBA glucosidase, beta, acid
GDF1 growth differentiation factor 1
GJA1 gap junction protein, alpha 1, 43kDa
GLA galactosidase, alpha
GLB1 galactosidase, beta 1
GLI3 GLI family zinc finger 3
GNPTAB N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits
GNPTG N-acetylglucosamine-1-phosphate transferase, gamma subunit
GP1BB glycoprotein Ib (platelet), beta polypeptide
GPC3 glypican 3
GTF2I general transcription factor IIi
GTF2IRD1 GTF2I repeat domain containing 1
GUSB glucuronidase, beta
HCCS holocytochrome c synthase
HGD homogentisate 1,2-dioxygenase
HIRA histone cell cycle regulator
HLA-B major histocompatibility complex, class I, B
HRAS Harvey rat sarcoma viral oncogene homolog
IDS iduronate 2-sulfatase
IDUA iduronidase, alpha-L-
IFT122 intraflagellar transport 122
IGFBP7 insulin-like growth factor binding protein 7
IL10 interleukin 10
IL12B interleukin 12B
IL12RB2 interleukin 12 receptor, beta 2
IL23R interleukin 23 receptor
INVS inversin
IRX5 iroquois homeobox 5
KANSL1 KAT8 regulatory NSL complex subunit 1
KAT6B K(lysine) acetyltransferase 6B
KCNAB2 potassium channel, voltage gated subfamily A regulatory beta subunit 2
KCNE5 potassium channel, voltage gated subfamily E regulatory beta subunit 5
KCNJ8 potassium channel, inwardly rectifying subfamily J, member 8
KIAA0196 KIAA0196
KIF7 kinesin family member 7
KRAS Kirsten rat sarcoma viral oncogene homolog
LETM1 leucine zipper-EF-hand containing transmembrane protein 1
LIMK1 LIM domain kinase 1
LMNA lamin A/C
LTBP2 latent transforming growth factor beta binding protein 2
MAP2K1 mitogen-activated protein kinase kinase 1
MAP2K2 mitogen-activated protein kinase kinase 2
MAPK1 mitogen-activated protein kinase 1
MEFV Mediterranean fever
MLX MLX, MAX dimerization protein
MYH11 myosin, heavy chain 11, smooth muscle
MYH7 myosin, heavy chain 7, cardiac muscle, beta
NAA10 N(alpha)-acetyltransferase 10, NatA catalytic subunit
NELFA negative elongation factor complex member A
NF1 neurofibromin 1
NKX2-5 NK2 homeobox 5
NOD2 nucleotide-binding oligomerization domain containing 2
NOTCH1 notch 1
NOTCH2 notch 2
NPHP3 nephronophthisis 3 (adolescent)
NR2F2 nuclear receptor subfamily 2, group F, member 2
NRAS neuroblastoma RAS viral (v-ras) oncogene homolog
NRXN1 neurexin 1
NSDHL NAD(P) dependent steroid dehydrogenase-like
PALB2 partner and localizer of BRCA2
PDSS1 prenyl (decaprenyl) diphosphate synthase, subunit 1
PIGL phosphatidylinositol glycan anchor biosynthesis, class L
PIK3R2 phosphoinositide-3-kinase, regulatory subunit 2 (beta)
PKD1 polycystic kidney disease 1 (autosomal dominant)
PLOD1 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1
POLG polymerase (DNA directed), gamma
PRDM16 PR domain containing 16
PRDM5 PR domain containing 5
PRKAR1A protein kinase, cAMP-dependent, regulatory, type I, alpha
PTPN11 protein tyrosine phosphatase, non-receptor type 11
RAB23 RAB23, member RAS oncogene family
RAD51C RAD51 paralog C
RAF1 Raf-1 proto-oncogene, serine/threonine kinase
RBPJ recombination signal binding protein for immunoglobulin kappa J region
RFC2 replication factor C (activator 1) 2, 40kDa
RIT1 Ras-like without CAAX 1
ROR2 receptor tyrosine kinase-like orphan receptor 2
RPL26 ribosomal protein L26
RPS6KA3 ribosomal protein S6 kinase, 90kDa, polypeptide 3
SALL1 spalt-like transcription factor 1
SCN5A sodium channel, voltage gated, type V alpha subunit
SEMA3E sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E
SH2B1 SH2B adaptor protein 1
SH3PXD2B SH3 and PX domains 2B
SHOC2 soc-2 suppressor of clear homolog (C. elegans)
SKI SKI proto-oncogene
SLC29A3 solute carrier family 29 (equilibrative nucleoside transporter), member 3
SLC2A10 solute carrier family 2 (facilitated glucose transporter), member 10
SLX4 SLX4 structure-specific endonuclease subunit
SMAD3 SMAD family member 3
SMAD4 SMAD family member 4
SMAD6 SMAD family member 6
SNIP1 Smad nuclear interacting protein 1
SNX10 sorting nexin 10
SOS1 son of sevenless homolog 1 (Drosophila)
STAT4 signal transducer and activator of transcription 4
STRA6 stimulated by retinoic acid 6
TAB2 TGF-beta activated kinase 1/MAP3K7 binding protein 2
TAF2 TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa
TBL2 transducin (beta)-like 2
TBX1 T-box 1
TCIRG1 T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3
TGFB2 transforming growth factor, beta 2
TGFBR1 transforming growth factor, beta receptor 1
TGFBR2 transforming growth factor, beta receptor II (70/80kDa)
TLR4 toll-like receptor 4
TMEM70 transmembrane protein 70
TNFSF11 tumor necrosis factor (ligand) superfamily, member 11
TNXB tenascin XB
TTC37 tetratricopeptide repeat domain 37
UFD1L ubiquitin fusion degradation 1 like (yeast)
VPS13B vacuolar protein sorting 13 homolog B (yeast)
VWF von Willebrand factor
WHSC1 Wolf-Hirschhorn syndrome candidate 1
ZEB2 zinc finger E-box binding homeobox 2
ZIC3 Zic family member 3
ZNF469 zinc finger protein 469