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: C0037771
Disease: Paraparesis, Spastic
Paraparesis, Spastic
0.120 Biomarker phenotype BEFREE The authors suggest that PLP1 testing might be considered in the evaluation of women with spastic paraparesis, cognitive decline and WM changes. 28320130 2017
CUI: C0037771
Disease: Paraparesis, Spastic
Paraparesis, Spastic
0.120 Biomarker phenotype BEFREE One mother, obligate carrier, presented complicated SPG2 (spastic paraparesis). 27179222 2016
CUI: C0037771
Disease: Paraparesis, Spastic
Paraparesis, Spastic
0.120 Biomarker phenotype HPO