PRPH2, peripherin 2, 5961

N. diseases: 152; N. variants: 61
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121918567
rs121918567
Entrez Id: 5961
Gene Symbol: PRPH2
PRPH2
CUI: C2751290
Disease:
CHOROIDAL DYSTROPHY, CENTRAL AREOLAR 2 		0.800 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
dbSNP: rs61755802
rs61755802
Entrez Id: 5961
Gene Symbol: PRPH2
PRPH2
CUI: C4551999
Disease:
MACULAR DYSTROPHY, PATTERNED, 1 		0.800 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
dbSNP: rs61755806
rs61755806
Entrez Id: 5961
Gene Symbol: PRPH2
PRPH2
CUI: C1842475
Disease:
Retinitis Pigmentosa 7 		0.800 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
dbSNP: rs61755816
rs61755816
Entrez Id: 5961
Gene Symbol: PRPH2
PRPH2
CUI: C1842475
Disease:
Retinitis Pigmentosa 7 		0.800 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
dbSNP: rs61755781
rs61755781
Entrez Id: 5961
Gene Symbol: PRPH2
PRPH2
CUI: C1842914
Disease:
Adult-Onset Vitelliform Macular Dystrophy 		0.800 GeneticVariation UNIPROT Clinical utility gene card for: BEST1-related dystrophies (Bestrophinopathies). 22234150 2012
dbSNP: rs61755806
rs61755806
Entrez Id: 5961
Gene Symbol: PRPH2
PRPH2
CUI: C1842475
Disease:
Retinitis Pigmentosa 7 		0.800 GeneticVariation UNIPROT Next-generation genetic testing for retinitis pigmentosa. 22334370 2012
dbSNP: rs61755816
rs61755816
Entrez Id: 5961
Gene Symbol: PRPH2
PRPH2
CUI: C1842475
Disease:
Retinitis Pigmentosa 7 		0.800 GeneticVariation UNIPROT Next-generation genetic testing for retinitis pigmentosa. 22334370 2012
dbSNP: rs121918567
rs121918567
Entrez Id: 5961
Gene Symbol: PRPH2
PRPH2
CUI: C2751290
Disease:
CHOROIDAL DYSTROPHY, CENTRAL AREOLAR 2 		0.800 GeneticVariation UNIPROT PRPH2 (Peripherin/RDS) mutations associated with different macular dystrophies in a Spanish population: a new mutation. 20213611 2011
dbSNP: rs121918567
rs121918567
Entrez Id: 5961
Gene Symbol: PRPH2
PRPH2
CUI: C2751290
Disease:
CHOROIDAL DYSTROPHY, CENTRAL AREOLAR 2 		0.800 GeneticVariation UNIPROT Phenotypic variability and long-term follow-up of patients with known and novel PRPH2/RDS gene mutations. 19038374 2009
dbSNP: rs61755806
rs61755806
Entrez Id: 5961
Gene Symbol: PRPH2
PRPH2
CUI: C1842475
Disease:
Retinitis Pigmentosa 7 		0.800 GeneticVariation UNIPROT Phenotypic variability and long-term follow-up of patients with known and novel PRPH2/RDS gene mutations. 19038374 2009
dbSNP: rs61755816
rs61755816
Entrez Id: 5961
Gene Symbol: PRPH2
PRPH2
CUI: C1842475
Disease:
Retinitis Pigmentosa 7 		0.800 GeneticVariation UNIPROT Phenotypic variability and long-term follow-up of patients with known and novel PRPH2/RDS gene mutations. 19038374 2009
dbSNP: rs121918567
rs121918567
Entrez Id: 5961
Gene Symbol: PRPH2
PRPH2
CUI: C2751290
Disease:
CHOROIDAL DYSTROPHY, CENTRAL AREOLAR 2 		0.800 GeneticVariation UNIPROT Clinical findings in a multigeneration family with autosomal dominant central areolar choroidal dystrophy associated with an Arg195Leu mutation in the peripherin/RDS gene. 16832026 2006
dbSNP: rs61755806
rs61755806
Entrez Id: 5961
Gene Symbol: PRPH2
PRPH2
CUI: C1842475
Disease:
Retinitis Pigmentosa 7 		0.800 GeneticVariation UNIPROT Prevalence of disease-causing mutations in families with autosomal dominant retinitis pigmentosa: a screen of known genes in 200 families. 16799052 2006
dbSNP: rs61755816
rs61755816
Entrez Id: 5961
Gene Symbol: PRPH2
PRPH2
CUI: C1842475
Disease:
Retinitis Pigmentosa 7 		0.800 GeneticVariation UNIPROT Prevalence of disease-causing mutations in families with autosomal dominant retinitis pigmentosa: a screen of known genes in 200 families. 16799052 2006
dbSNP: rs61755802
rs61755802
Entrez Id: 5961
Gene Symbol: PRPH2
PRPH2
CUI: C4551999
Disease:
MACULAR DYSTROPHY, PATTERNED, 1 		0.800 GeneticVariation UNIPROT A novel mutation in the RDS gene in an Italian family with pattern dystrophy. 16024869 2005
dbSNP: rs61755806
rs61755806
Entrez Id: 5961
Gene Symbol: PRPH2
PRPH2
CUI: C1842475
Disease:
Retinitis Pigmentosa 7 		0.800 GeneticVariation UNIPROT Peripherin/RDS gene mutation (Pro210Leu) and polymorphisms in Japanese patients with retinal dystrophies. 11485765 2001
dbSNP: rs61755816
rs61755816
Entrez Id: 5961
Gene Symbol: PRPH2
PRPH2
CUI: C1842475
Disease:
Retinitis Pigmentosa 7 		0.800 GeneticVariation UNIPROT Peripherin/RDS gene mutation (Pro210Leu) and polymorphisms in Japanese patients with retinal dystrophies. 11485765 2001
dbSNP: rs61755802
rs61755802
Entrez Id: 5961
Gene Symbol: PRPH2
PRPH2
CUI: C4551999
Disease:
MACULAR DYSTROPHY, PATTERNED, 1 		0.800 GeneticVariation UNIPROT Founder effect, seen in the British population, of the 172 peripherin/RDS mutation-and further refinement of genetic positioning of the peripherin/RDS gene. 9443872 1998
dbSNP: rs61755806
rs61755806
Entrez Id: 5961
Gene Symbol: PRPH2
PRPH2
CUI: C1842475
Disease:
Retinitis Pigmentosa 7 		0.800 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
dbSNP: rs61755816
rs61755816
Entrez Id: 5961
Gene Symbol: PRPH2
PRPH2
CUI: C1842475
Disease:
Retinitis Pigmentosa 7 		0.800 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
dbSNP: rs61755806
rs61755806
Entrez Id: 5961
Gene Symbol: PRPH2
PRPH2
CUI: C1842475
Disease:
Retinitis Pigmentosa 7 		0.800 GeneticVariation UNIPROT A peripherin/retinal degeneration slow mutation (Pro-210-Arg) associated with macular and peripheral retinal degeneration. 7862413 1995
dbSNP: rs61755816
rs61755816
Entrez Id: 5961
Gene Symbol: PRPH2
PRPH2
CUI: C1842475
Disease:
Retinitis Pigmentosa 7 		0.800 GeneticVariation UNIPROT A peripherin/retinal degeneration slow mutation (Pro-210-Arg) associated with macular and peripheral retinal degeneration. 7862413 1995
dbSNP: rs61755806
rs61755806
Entrez Id: 5961
Gene Symbol: PRPH2
PRPH2
CUI: C1842475
Disease:
Retinitis Pigmentosa 7 		0.800 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
dbSNP: rs61755816
rs61755816
Entrez Id: 5961
Gene Symbol: PRPH2
PRPH2
CUI: C1842475
Disease:
Retinitis Pigmentosa 7 		0.800 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
dbSNP: rs61755802
rs61755802
Entrez Id: 5961
Gene Symbol: PRPH2
PRPH2
CUI: C4551999
Disease:
MACULAR DYSTROPHY, PATTERNED, 1 		0.800 GeneticVariation UNIPROT Butterfly-shaped pigment dystrophy of the fovea caused by a point mutation in codon 167 of the RDS gene. 8485574 1993