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: rs1431917892
rs1431917892
Entrez Id: 56623
Gene Symbol: INPP5E
INPP5E
CUI: C0431399
Disease:
Familial aplasia of the vermis 		G 0.700 GeneticVariation CLINVAR Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disorders. 23386033 2013
dbSNP: rs121918130
rs121918130
Entrez Id: 56623
Gene Symbol: INPP5E
INPP5E
CUI: C0431399
Disease:
Familial aplasia of the vermis 		A 0.700 GeneticVariation CLINVAR Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies. 19668216 2009
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
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