PLP1, proteolipid protein 1, 5354

N. diseases: 160; N. variants: 43
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0013421
Disease: Dystonia
Dystonia
0.400 Biomarker phenotype GENOMICS_ENGLAND Genotype-phenotype correlation in inherited brain myelination defects due to proteolipid protein gene mutations. Clinical European Network on Brain Dysmyelinating Disease. 11093273 2000
CUI: C0013421
Disease: Dystonia
Dystonia
0.400 Biomarker phenotype HPO
CUI: C0013421
Disease: Dystonia
Dystonia
0.400 Biomarker phenotype GENOMICS_ENGLAND
CUI: C0013421
Disease: Dystonia
Dystonia
0.400 Biomarker phenotype GENOMICS_ENGLAND