Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6102
Gene Symbol: RP2
RP2
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		0.100 GeneticVariation CLINVAR X-linked retinitis pigmentosa: RPGR mutations in most families with definite X linkage and clustering of mutations in a short sequence stretch of exon ORF15. 12657579

2003
Entrez Id: 6102
Gene Symbol: RP2
RP2
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		0.100 CausalMutation CLINVAR Protein-truncation mutations in the RP2 gene in a North American cohort of families with X-linked retinitis pigmentosa. 10053026

1999