PLP1, proteolipid protein 1, 5354

N. diseases: 160; N. variants: 43
Disease: Spastic Paraplegia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		0.140 GeneticVariation disease BEFREE Elucidation of the pathogenic mechanism and potential treatment strategy for a female patient with spastic paraplegia derived from a single-nucleotide deletion in PLP1. 31004103 2019
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		0.140 Biomarker disease BEFREE Two other less severe phenotypes were subsequently described, including the spastic paraplegia syndrome and PLP1-null disease. 29478609 2018
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		0.140 GeneticVariation disease BEFREE PLP1 gene mutations are associated with a large spectrum of X-linked dysmyelinating disorders ranging from hypomyelinating leukodystrophy, Pelizaeus-Merzbacher disease (PMD), to spastic paraplegia (SPG2) according to the nature of the mutation. 18470932 2008
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		0.140 GeneticVariation disease BEFREE Transgenic mice carrying extra copies of the Plp gene provide a valid model of PMD/SPG due to gene duplication. 9672418 1998
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		0.140 Biomarker disease HPO