mitral valve prolapse Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description A mitral valve disease where one or both of the cusps of the mitral valve bulge or collapse backward in the left atrium during systole. (Human Disease Ontology, DOID_988)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0001634
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Genes

28 genes associated with the mitral valve prolapse 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
B3GAT3 beta-1,3-glucuronyltransferase 3
BCOR BCL6 corepressor
CBS cystathionine-beta-synthase
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
FBN1 fibrillin 1
FBN2 fibrillin 2
FLNA filamin A, alpha
FMR1 fragile X mental retardation 1
HRAS Harvey rat sarcoma viral oncogene homolog
KRAS Kirsten rat sarcoma viral oncogene homolog
POLG polymerase (DNA directed), gamma
SKI SKI proto-oncogene
SLC29A3 solute carrier family 29 (equilibrative nucleoside transporter), member 3
SMAD3 SMAD family member 3
SMAD4 SMAD family member 4
TGFB2 transforming growth factor, beta 2
TGFBR1 transforming growth factor, beta receptor 1
TGFBR2 transforming growth factor, beta receptor II (70/80kDa)
TNXB tenascin XB
VPS13B vacuolar protein sorting 13 homolog B (yeast)
VWF von Willebrand factor
ZNF469 zinc finger protein 469