Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6103
Gene Symbol: RPGR
RPGR
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
0.800 CausalMutation CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709

2019

Entrez Id: 6103
Gene Symbol: RPGR
RPGR
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
0.800 CausalMutation CLINVAR A comprehensive mutation analysis of RP2 and RPGR in a North American cohort of families with X-linked retinitis pigmentosa. 11992260

2002

Entrez Id: 6103
Gene Symbol: RPGR
RPGR
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
0.800 GeneticVariation CLINVAR A comprehensive mutation analysis of RP2 and RPGR in a North American cohort of families with X-linked retinitis pigmentosa. 11992260

2002

Entrez Id: 6103
Gene Symbol: RPGR
RPGR
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
0.800 CausalMutation CLINVAR Mutational hot spot within a new RPGR exon in X-linked retinitis pigmentosa. 10932196

2000

Entrez Id: 6103
Gene Symbol: RPGR
RPGR
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
0.800 GeneticVariation CLINVAR Mutational hot spot within a new RPGR exon in X-linked retinitis pigmentosa. 10932196

2000