large hands Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0001176
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Genes

22 genes associated with the large hands phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ABCC9 ATP-binding cassette, sub-family C (CFTR/MRP), member 9
AGPAT2 1-acylglycerol-3-phosphate O-acyltransferase 2
ASNS asparagine synthetase (glutamine-hydrolyzing)
BSCL2 Berardinelli-Seip congenital lipodystrophy 2 (seipin)
CAV1 caveolin 1, caveolae protein, 22kDa
EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit
FOS FBJ murine osteosarcoma viral oncogene homolog
INSR insulin receptor
KDM5C lysine (K)-specific demethylase 5C
KIT v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
NSD1 nuclear receptor binding SET domain protein 1
PDGFRA platelet-derived growth factor receptor, alpha polypeptide
PHF8 PHD finger protein 8
PHGDH phosphoglycerate dehydrogenase
PIGL phosphatidylinositol glycan anchor biosynthesis, class L
PRKAR1A protein kinase, cAMP-dependent, regulatory, type I, alpha
PSAT1 phosphoserine aminotransferase 1
RNU4ATAC RNA, U4atac small nuclear (U12-dependent splicing)
RPS6KA3 ribosomal protein S6 kinase, 90kDa, polypeptide 3
SDHB succinate dehydrogenase complex, subunit B, iron sulfur (Ip)
SDHC succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa
SHANK3 SH3 and multiple ankyrin repeat domains 3