CLUAP1, clusterin associated protein 1, 23059

N. diseases: 18; N. variants: 5
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: rs769705065
rs769705065
Entrez Id: 23059
Gene Symbol: CLUAP1
CLUAP1
CUI: C0431399
Disease:
Familial aplasia of the vermis 		T 0.700 GeneticVariation CLINVAR Compound heterozygous alterations in intraflagellar transport protein CLUAP1 in a child with a novel Joubert and oral-facial-digital overlap syndrome. 28679688 2017