Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 57096
Gene Symbol: RPGRIP1
RPGRIP1
0.150 Biomarker disease BEFREE Author Correction: Variabilities in retinal function and structure in a canine model of cone-rod dystrophy associated with RPGRIP1 support multigenic etiology. 30139995 2018
Entrez Id: 57096
Gene Symbol: RPGRIP1
RPGRIP1
0.150 GeneticVariation disease BEFREE Mutations in the RPGR-interacting protein 1 (RPGRIP1) gene cause recessive Leber congenital amaurosis (LCA), juvenile retinitis pigmentosa (RP) and cone-rod dystrophy. 29203866 2017
Entrez Id: 57096
Gene Symbol: RPGRIP1
RPGRIP1
0.150 GeneticVariation disease BEFREE A form of canine cone-rod dystrophy (cord1) was originally associated with a homozygous insertion in RPGRIP1 (RPGRIP1 <sup>ins/ins</sup>) as the primary disease locus while a homozygous deletion in MAP9 (MAP9 <sup>del/del</sup>) was later identified as a modifier associated with the early onset form. 28993665 2017
Entrez Id: 57096
Gene Symbol: RPGRIP1
RPGRIP1
0.150 GeneticVariation disease BEFREE To address the last issue, we evaluated gene therapy in the retinitis pigmentosa GTPase regulator interacting protein 1 (RPGRIP1)-deficient dog, a model exhibiting a severe cone-rod dystrophy similar to that seen in humans. 24091916 2014
Entrez Id: 57096
Gene Symbol: RPGRIP1
RPGRIP1
0.150 GeneticVariation disease BEFREE Canine RPGRIP1 mutation establishes cone-rod dystrophy in miniature longhaired dachshunds as a homologue of human Leber congenital amaurosis. 16806805 2006
Entrez Id: 57096
Gene Symbol: RPGRIP1
RPGRIP1
0.150 Biomarker disease HPO