PRPH2, peripherin 2, 5961

N. diseases: 152; N. variants: 61
Disease: Adult-Onset Vitelliform Macular Dystrophy ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs61748432
rs61748432
Entrez Id: 5961
Gene Symbol: PRPH2
PRPH2
CUI: C1842914
Disease:
Adult-Onset Vitelliform Macular Dystrophy 		0.700 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: rs61748432
rs61748432
Entrez Id: 5961
Gene Symbol: PRPH2
PRPH2
CUI: C1842914
Disease:
Adult-Onset Vitelliform Macular Dystrophy 		0.700 GeneticVariation UNIPROT PRPH2 (Peripherin/RDS) mutations associated with different macular dystrophies in a Spanish population: a new mutation. 20213611 2011
dbSNP: rs61748432
rs61748432
Entrez Id: 5961
Gene Symbol: PRPH2
PRPH2
CUI: C1842914
Disease:
Adult-Onset Vitelliform Macular Dystrophy 		0.700 GeneticVariation UNIPROT High prevalence of mutations in peripherin/RDS in autosomal dominant macular dystrophies in a Spanish population. 17653047 2007
dbSNP: rs61748432
rs61748432
Entrez Id: 5961
Gene Symbol: PRPH2
PRPH2
CUI: C1842914
Disease:
Adult-Onset Vitelliform Macular Dystrophy 		0.700 GeneticVariation UNIPROT A novel RDS/peripherin gene mutation associated with diverse macular phenotypes. 15370544 2004
dbSNP: rs61748432
rs61748432
Entrez Id: 5961
Gene Symbol: PRPH2
PRPH2
CUI: C1842914
Disease:
Adult-Onset Vitelliform Macular Dystrophy 		0.700 GeneticVariation UNIPROT Adult vitelliform macular dystrophy is frequently associated with mutations in the peripherin/RDS gene. 9338584 1997