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: rs771866500
rs771866500
Entrez Id: 56623
Gene Symbol: INPP5E
INPP5E
CUI: C0431399
Disease:
Familial aplasia of the vermis 		0.010 GeneticVariation BEFREE Here, we report the detailed clinical phenotypes of two sisters with a novel homozygous variant in INPP5E (NM_019892.4: c.1565G>C, NP_063945.2: p.Gly552Ala), expanding the phenotype associated with Joubert syndrome type 1. 29052317 2017