PLP1, proteolipid protein 1, 5354

N. diseases: 160; N. variants: 43
Disease: Leukodystrophy, Hypomyelinating, 2 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1837355
Disease: Leukodystrophy, Hypomyelinating, 2
Leukodystrophy, Hypomyelinating, 2 		0.020 GeneticVariation disease BEFREE PMD is caused by mutations in the gene encoding for the proteolipid protein 1 (PLP1), whereas PMLD1 is associated with mutations in the gene encoding for the gap junction protein gamma 2 (GJC2). 31270756 2019
CUI: C1837355
Disease: Leukodystrophy, Hypomyelinating, 2
Leukodystrophy, Hypomyelinating, 2 		0.020 Biomarker disease BEFREE This finding confirms the hypothesis that NAAG may be involved in myelination-related processes and can be considered as a useful diagnostic marker not only for patients with the PLP1 related disorder, but also in those with Pelizaeus-Merzbacher like hypomyelinating disease due to other defined genetic causes, such as PMLD1. 17881259 2008