PLP1, proteolipid protein 1, 5354

N. diseases: 160; N. variants: 43
Disease: Peripheral demyelinating neuropathy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0270922
Disease: Peripheral demyelinating neuropathy
Peripheral demyelinating neuropathy 		0.010 GeneticVariation disease BEFREE We have found that null mutations of the PLP gene cause demyelinating peripheral neuropathy, whereas duplications and a proline 14 to leucine mutation do not affect nerve function. 10586260 1999