Source: UNIPROT

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5961
Gene Symbol: PRPH2
PRPH2
CUI: C1842475
Disease: Retinitis Pigmentosa 7
Retinitis Pigmentosa 7 		0.910 GeneticVariation UNIPROT In Vivo Analysis of Disease-Associated Point Mutations Unveils Profound Differences in mRNA Splicing of Peripherin-2 in Rod and Cone Photoreceptors. 26796962

2016
Entrez Id: 5961
Gene Symbol: PRPH2
PRPH2
CUI: C1842475
Disease: Retinitis Pigmentosa 7
Retinitis Pigmentosa 7 		0.910 GeneticVariation UNIPROT Next-generation genetic testing for retinitis pigmentosa. 22334370

2012
Entrez Id: 5961
Gene Symbol: PRPH2
PRPH2
CUI: C1842475
Disease: Retinitis Pigmentosa 7
Retinitis Pigmentosa 7 		0.910 GeneticVariation UNIPROT Phenotypic variability and long-term follow-up of patients with known and novel PRPH2/RDS gene mutations. 19038374

2009
Entrez Id: 5961
Gene Symbol: PRPH2
PRPH2
CUI: C1842475
Disease: Retinitis Pigmentosa 7
Retinitis Pigmentosa 7 		0.910 GeneticVariation UNIPROT Prevalence of disease-causing mutations in families with autosomal dominant retinitis pigmentosa: a screen of known genes in 200 families. 16799052

2006
Entrez Id: 5961
Gene Symbol: PRPH2
PRPH2
CUI: C1842475
Disease: Retinitis Pigmentosa 7
Retinitis Pigmentosa 7 		0.910 GeneticVariation UNIPROT Peripherin/RDS gene mutation (Pro210Leu) and polymorphisms in Japanese patients with retinal dystrophies. 11485765

2001
Entrez Id: 5961
Gene Symbol: PRPH2
PRPH2
CUI: C1842475
Disease: Retinitis Pigmentosa 7
Retinitis Pigmentosa 7 		0.910 GeneticVariation UNIPROT Three novel RDS-peripherin mutations (689delT, 857del17, G208D) in Spanish families affected with autosomal dominant retinal degenerations. Mutations in brief no. 147. Online. 10627133

1998
Entrez Id: 5961
Gene Symbol: PRPH2
PRPH2
CUI: C1842475
Disease: Retinitis Pigmentosa 7
Retinitis Pigmentosa 7 		0.910 GeneticVariation UNIPROT A peripherin/retinal degeneration slow mutation (Pro-210-Arg) associated with macular and peripheral retinal degeneration. 7862413

1995
Entrez Id: 5961
Gene Symbol: PRPH2
PRPH2
CUI: C1842475
Disease: Retinitis Pigmentosa 7
Retinitis Pigmentosa 7 		0.910 GeneticVariation UNIPROT A novel mutation (Asn244Lys) in the peripherin/RDS gene causing autosomal dominant retinitis pigmentosa associated with bull's-eye maculopathy detected by nonradioisotopic SSCP. 8020945

1994
Entrez Id: 5961
Gene Symbol: PRPH2
PRPH2
CUI: C1842475
Disease: Retinitis Pigmentosa 7
Retinitis Pigmentosa 7 		0.910 GeneticVariation UNIPROT Autosomal dominant retinitis pigmentosa: a novel mutation at the peripherin/RDS locus in the original 6p-linked pedigree. 1427912

1992
Entrez Id: 5961
Gene Symbol: PRPH2
PRPH2
CUI: C1842475
Disease: Retinitis Pigmentosa 7
Retinitis Pigmentosa 7 		0.910 GeneticVariation UNIPROT Mutations in the human retinal degeneration slow gene in autosomal dominant retinitis pigmentosa. 1684223

1991
Entrez Id: 5961
Gene Symbol: PRPH2
PRPH2
CUI: C1842475
Disease: Retinitis Pigmentosa 7
Retinitis Pigmentosa 7 		0.910 GeneticVariation UNIPROT A three-base-pair deletion in the peripherin-RDS gene in one form of retinitis pigmentosa. 1749427

1991