mitral regurgitation Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0001653
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Genes

24 genes associated with the mitral regurgitation phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ADAMTS10 ADAM metallopeptidase with thrombospondin type 1 motif, 10
AGA aspartylglucosaminidase
B3GALT6 UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 6
CBL Cbl proto-oncogene, E3 ubiquitin protein ligase
CHST3 carbohydrate (chondroitin 6) sulfotransferase 3
COL1A2 collagen, type I, alpha 2
CRYAB crystallin, alpha B
DTNA dystrobrevin, alpha
ELN elastin
FBLN5 fibulin 5
FBN1 fibrillin 1
FBN2 fibrillin 2
FLNA filamin A, alpha
G6PC3 glucose 6 phosphatase, catalytic, 3
IDUA iduronidase, alpha-L-
IRX5 iroquois homeobox 5
LMNA lamin A/C
PDSS1 prenyl (decaprenyl) diphosphate synthase, subunit 1
PIK3R2 phosphoinositide-3-kinase, regulatory subunit 2 (beta)
POLG polymerase (DNA directed), gamma
PRDM16 PR domain containing 16
RPS6KA3 ribosomal protein S6 kinase, 90kDa, polypeptide 3
SMAD3 SMAD family member 3
SMAD4 SMAD family member 4