PRPH, peripherin, 5630

N. diseases: 73; N. variants: 2
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Amyotrophic Lateral Sclerosis, Sporadic
0.310 GeneticVariation disease BEFREE A novel peripherin gene (PRPH) mutation identified in one sporadic amyotrophic lateral sclerosis patient. 20363051 2011
Amyotrophic Lateral Sclerosis, Sporadic
0.310 Biomarker disease CTD_human