PRPH, peripherin, 5630

N. diseases: 73; N. variants: 2
Disease: Amyotrophic Lateral Sclerosis ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs58599399
rs58599399
Entrez Id: 5630;101927267
Gene Symbol: PRPH;LOC101927267
PRPH;LOC101927267
CUI: C0002736
Disease:
Amyotrophic Lateral Sclerosis 		0.010 GeneticVariation BEFREE Seven variants were not identified in a panel of at least 245 matched controls, including 2 missense variations, namely p.R133P and p.D141Y, each identified in one heterozygous patient. p.R133P was newly identified whereas p.D141Y was previously described in one homozygous sporadic ALS patient. 20363051 2011