autoamputation Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Spontaneous detachment (amputation) of an appendage from the body. (Human Phenotype Ontology, HP_0001218)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0001218
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Genes

11 genes associated with the autoamputation phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ATL1 atlastin GTPase 1
CCT5 chaperonin containing TCP1, subunit 5 (epsilon)
FAM134B family with sequence similarity 134, member B
GJB2 gap junction protein, beta 2, 26kDa
MPV17 MpV17 mitochondrial inner membrane protein
NGF nerve growth factor (beta polypeptide)
NTRK1 neurotrophic tyrosine kinase, receptor, type 1
RAB7A RAB7A, member RAS oncogene family
SPTLC1 serine palmitoyltransferase, long chain base subunit 1
SPTLC2 serine palmitoyltransferase, long chain base subunit 2
WNK1 WNK lysine deficient protein kinase 1