Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6103
Gene Symbol: RPGR
RPGR
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders
0.100 CausalMutation CLINVAR X-linked retinitis pigmentosa: mutation spectrum of the RPGR and RP2 genes and correlation with visual function. 10937588

2000

Entrez Id: 6103
Gene Symbol: RPGR
RPGR
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders
0.100 CausalMutation CLINVAR X-linked retinitis pigmentosa in two families with a missense mutation in the RPGR gene and putative change of glycine to valine at codon 60. 9855162

1998

Entrez Id: 6103
Gene Symbol: RPGR
RPGR
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders
0.100 CausalMutation CLINVAR Spectrum of mutations in the RPGR gene that are identified in 20% of families with X-linked retinitis pigmentosa. 9399904

1997

Entrez Id: 6103
Gene Symbol: RPGR
RPGR
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders
0.100 GeneticVariation CLINVAR