PRPH, peripherin, 5630

N. diseases: 73; N. variants: 2
Disease: AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4016314
Disease: AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO
AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO 		0.400 Biomarker phenotype GENOMICS_ENGLAND A frameshift deletion in peripherin gene associated with amyotrophic lateral sclerosis. 15322088 2004
CUI: C4016314
Disease: AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO
AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO 		0.400 SusceptibilityMutation phenotype CLINVAR