abnormality of the mitral valve Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description An abnormality of the mitral valve. (Human Phenotype Ontology, HP_0001633)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0001633
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Genes

86 genes associated with the abnormality of the mitral valve phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ABCC6 ATP-binding cassette, sub-family C (CFTR/MRP), member 6
ADAMTS10 ADAM metallopeptidase with thrombospondin type 1 motif, 10
ADAMTSL2 ADAMTS-like 2
AGA aspartylglucosaminidase
AIP aryl hydrocarbon receptor interacting protein
AKT3 v-akt murine thymoma viral oncogene homolog 3
ANK1 ankyrin 1, erythrocytic
ANKRD11 ankyrin repeat domain 11
B3GALT6 UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 6
B3GAT3 beta-1,3-glucuronyltransferase 3
BAZ1B bromodomain adjacent to zinc finger domain, 1B
BCOR BCL6 corepressor
BRAF B-Raf proto-oncogene, serine/threonine kinase
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
CHST3 carbohydrate (chondroitin 6) sulfotransferase 3
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
COX7B cytochrome c oxidase subunit VIIb
CRYAB crystallin, alpha B
DTNA dystrobrevin, alpha
ELN elastin
FAM58A family with sequence similarity 58, member A
FBLN5 fibulin 5
FBN1 fibrillin 1
FBN2 fibrillin 2
FLNA filamin A, alpha
FMR1 fragile X mental retardation 1
G6PC3 glucose 6 phosphatase, catalytic, 3
GBA glucosidase, beta, acid
GJA1 gap junction protein, alpha 1, 43kDa
GLA galactosidase, alpha
GTF2I general transcription factor IIi
GTF2IRD1 GTF2I repeat domain containing 1
HCCS holocytochrome c synthase
HGD homogentisate 1,2-dioxygenase
HLA-B major histocompatibility complex, class I, B
HRAS Harvey rat sarcoma viral oncogene homolog
IDUA iduronidase, alpha-L-
IL10 interleukin 10
IL12RB2 interleukin 12 receptor, beta 2
IL23R interleukin 23 receptor
IRX5 iroquois homeobox 5
KIAA0196 KIAA0196
KRAS Kirsten rat sarcoma viral oncogene homolog
LIMK1 LIM domain kinase 1
LMNA lamin A/C
LTBP2 latent transforming growth factor beta binding protein 2
MEFV Mediterranean fever
NKX2-5 NK2 homeobox 5
NOD2 nucleotide-binding oligomerization domain containing 2
NOTCH2 notch 2
PDSS1 prenyl (decaprenyl) diphosphate synthase, subunit 1
PIK3R2 phosphoinositide-3-kinase, regulatory subunit 2 (beta)
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
RAF1 Raf-1 proto-oncogene, serine/threonine kinase
RFC2 replication factor C (activator 1) 2, 40kDa
RPS6KA3 ribosomal protein S6 kinase, 90kDa, polypeptide 3
SH3PXD2B SH3 and PX domains 2B
SKI SKI proto-oncogene
SLC29A3 solute carrier family 29 (equilibrative nucleoside transporter), member 3
SMAD3 SMAD family member 3
SMAD4 SMAD family member 4
STAT4 signal transducer and activator of transcription 4
TBL2 transducin (beta)-like 2
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
TNXB tenascin XB
VPS13B vacuolar protein sorting 13 homolog B (yeast)
VWF von Willebrand factor
ZNF469 zinc finger protein 469