Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6121
Gene Symbol: RPE65
RPE65
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		0.500 GeneticVariation CLINVAR A comprehensive clinical and biochemical functional study of a novel RPE65 hypomorphic mutation. 18599565

2008
Entrez Id: 6121
Gene Symbol: RPE65
RPE65
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		0.500 GeneticVariation CLINVAR Here we report that the analysis of RPE65 in a collection of about 100 unselected retinal-dystrophy patients of different ethnic origin revealed five that are likely to be pathogenic mutations, including a missense mutation (Pro363Thr), two point mutations affecting splicing (912 + 1G-->T and 65 + 5G-->A) and two small re-arrangements (ins144T and 831del8) on a total of nine alleles of five patients with arCSRD. 9326941

1997