CEP290, centrosomal protein 290, 80184

N. diseases: 196; N. variants: 100
Disease: JOUBERT SYNDROME 5 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs371525247
rs371525247
Entrez Id: 80184
Gene Symbol: CEP290
CEP290
CUI: C1857780
Disease:
JOUBERT SYNDROME 5 		A 0.700 CausalMutation CLINVAR Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. 26092869 2015