Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 57096
Gene Symbol: RPGRIP1
RPGRIP1
0.130 Biomarker disease BEFREE Rodent (Crb1, Lrat, Mertk, Rpe65, Rpgrip1), avian (Gucy2D) and canine (Rpe65) models for LCA and profound visual impairment have been successfully corrected employing adeno-associated virus or lentivirus-based gene therapy. 18632300 2008
Entrez Id: 57096
Gene Symbol: RPGRIP1
RPGRIP1
0.130 GeneticVariation disease BEFREE Mutations in RPGRIP1 have been shown to cause Leber congenital amaurosis, a group of retinal dystrophies that represent the most common genetic causes of congenital visual impairment in infants and children. 16806805 2006
Entrez Id: 57096
Gene Symbol: RPGRIP1
RPGRIP1
0.130 GeneticVariation disease BEFREE Younger patients with an AIPL1 or RPGRIP1 variation were found to have severely reduced vision. 16205573 2005
Entrez Id: 57096
Gene Symbol: RPGRIP1
RPGRIP1
0.130 GeneticVariation disease CLINVAR