Disease: JOUBERT SYNDROME 10 (disorder) ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs312262830
rs312262830
Entrez Id: 8481
Gene Symbol: OFD1
OFD1
CUI: C2749019
Disease:
JOUBERT SYNDROME 10 (disorder) 		T 0.700 CausalMutation CLINVAR CNS involvement in OFD1 syndrome: a clinical, molecular, and neuroimaging study. 24884629 2014
dbSNP: rs312262830
rs312262830
Entrez Id: 8481
Gene Symbol: OFD1
OFD1
CUI: C2749019
Disease:
JOUBERT SYNDROME 10 (disorder) 		T 0.700 CausalMutation CLINVAR Mutational spectrum of the oral-facial-digital type I syndrome: a study on a large collection of patients. 18546297 2008