Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs386833751
rs386833751
CC2D2A
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		A 0.700 CausalMutation CLINVAR Genotype-phenotype correlation in CC2D2A-related Joubert syndrome reveals an association with ventriculomegaly and seizures. 22241855

2012
dbSNP: rs386833751
rs386833751
CC2D2A
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		A 0.700 CausalMutation CLINVAR CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290. 18950740

2008