Disease: Familial aplasia of the vermis ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1564430716
rs1564430716
Entrez Id: 56623
Gene Symbol: INPP5E
INPP5E
CUI: C0431399
Disease:
Familial aplasia of the vermis 		C 0.700 CausalMutation CLINVAR INPP5E mutations cause primary cilium signaling defects, ciliary instability and ciliopathies in human and mouse. 19668215 2009