Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 57096
Gene Symbol: RPGRIP1
RPGRIP1
0.010 GeneticVariation disease BEFREE Mutations in RPGRIP1 lead to the eye-restricted disease Leber congenital amaurosis, while mutations in RPGRIP1L are causative for Joubert and Meckel syndrome, which affect multiple organs and are at the severe end of the ciliopathy spectrum. 21685204 2011