CEP290, centrosomal protein 290, 80184

N. diseases: 196; N. variants: 100
Disease: Meckel-Gruber syndrome ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1555225566
rs1555225566
Entrez Id: 80184
Gene Symbol: CEP290
CEP290
CUI: C0265215
Disease:
Meckel-Gruber syndrome 		C 0.700 CausalMutation CLINVAR Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy. 23559409 2013