mitral stenosis Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description A mitral valve disease that is characterized by the narrowing of the orifice of the mitral valve of the heart. (Human Disease Ontology, DOID_1754)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0001718
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Genes

9 genes associated with the mitral stenosis 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
ADAMTSL2 ADAMTS-like 2
CHST3 carbohydrate (chondroitin 6) sulfotransferase 3
FAM58A family with sequence similarity 58, member A
FBN1 fibrillin 1
GBA glucosidase, beta, acid
HGD homogentisate 1,2-dioxygenase
NOTCH2 notch 2
PRKAR1A protein kinase, cAMP-dependent, regulatory, type I, alpha