RPGRIP1, RPGR interacting protein 1, 57096

N. diseases: 121; N. variants: 36
Disease: Cone-Rod Dystrophy 13 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2750720
Disease: Cone-Rod Dystrophy 13
Cone-Rod Dystrophy 13 		0.700 CausalMutation disease CLINVAR NGS-based Molecular diagnosis of 105 eyeGENE(®) probands with Retinitis Pigmentosa. 26667666 2015
CUI: C2750720
Disease: Cone-Rod Dystrophy 13
Cone-Rod Dystrophy 13 		0.700 GeneticVariation disease CLINVAR Autozygome-guided exome sequencing in retinal dystrophy patients reveals pathogenetic mutations and novel candidate disease genes. 23105016 2013
CUI: C2750720
Disease: Cone-Rod Dystrophy 13
Cone-Rod Dystrophy 13 		0.700 CausalMutation disease CLINVAR Autozygome-guided exome sequencing in retinal dystrophy patients reveals pathogenetic mutations and novel candidate disease genes. 23105016 2013
CUI: C2750720
Disease: Cone-Rod Dystrophy 13
Cone-Rod Dystrophy 13 		0.700 CausalMutation disease CLINVAR Visual acuity in patients with Leber's congenital amaurosis and early childhood-onset retinitis pigmentosa. 20079931 2010
CUI: C2750720
Disease: Cone-Rod Dystrophy 13
Cone-Rod Dystrophy 13 		0.700 GeneticVariation disease UNIPROT Evidence of RPGRIP1 gene mutations associated with recessive cone-rod dystrophy. 12920076 2003
CUI: C2750720
Disease: Cone-Rod Dystrophy 13
Cone-Rod Dystrophy 13 		0.700 Biomarker disease GENOMICS_ENGLAND Evidence of RPGRIP1 gene mutations associated with recessive cone-rod dystrophy. 12920076 2003
CUI: C2750720
Disease: Cone-Rod Dystrophy 13
Cone-Rod Dystrophy 13 		0.700 GeneticVariation disease CLINVAR Complete exon-intron structure of the RPGR-interacting protein (RPGRIP1) gene allows the identification of mutations underlying Leber congenital amaurosis. 11528500 2001
CUI: C2750720
Disease: Cone-Rod Dystrophy 13
Cone-Rod Dystrophy 13 		0.700 GeneticVariation disease UNIPROT The retinitis pigmentosa GTPase regulator (RPGR) interacts with novel transport-like proteins in the outer segments of rod photoreceptors. 10958648 2000
CUI: C2750720
Disease: Cone-Rod Dystrophy 13
Cone-Rod Dystrophy 13 		0.700 Biomarker disease CTD_human
CUI: C2750720
Disease: Cone-Rod Dystrophy 13
Cone-Rod Dystrophy 13 		0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C2750720
Disease: Cone-Rod Dystrophy 13
Cone-Rod Dystrophy 13 		0.700 Biomarker disease GENOMICS_ENGLAND