AHI1, Abelson helper integration site 1, 54806

N. diseases: 18; N. variants: 68
Disease: Familial aplasia of the vermis ×
Source: CURATED ×
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs777668842
rs777668842
Entrez Id: 54806
Gene Symbol: AHI1
AHI1
CUI: C0431399
Disease:
Familial aplasia of the vermis 		A 0.700 CausalMutation CLINVAR Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. 26092869 2015
dbSNP: rs777668842
rs777668842
Entrez Id: 54806
Gene Symbol: AHI1
AHI1
CUI: C0431399
Disease:
Familial aplasia of the vermis 		A 0.700 CausalMutation CLINVAR AHI1 mutations cause both retinal dystrophy and renal cystic disease in Joubert syndrome. 16155189 2006
dbSNP: rs777668842
rs777668842
Entrez Id: 54806
Gene Symbol: AHI1
AHI1
CUI: C0431399
Disease:
Familial aplasia of the vermis 		A 0.700 CausalMutation CLINVAR AHI1 gene mutations cause specific forms of Joubert syndrome-related disorders. 16453322 2006