rs121918130, INPP5E

N. diseases: 18
Disease: Familial aplasia of the vermis ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Familial aplasia of the vermis
CUI: C0431399
Disease: Familial aplasia of the vermis
0.700 GeneticVariation CLINVAR Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies. 19668216 2009