Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5354
Gene Symbol: PLP1
PLP1
0.140 GeneticVariation disease BEFREE Xq22 deletions that encompass PLP1 (Xq22-PLP1-DEL) are notable for variable expressivity of neurological disease traits in females ranging from a mild late-onset form of spastic paraplegia type 2 (MIM# 312920), sometimes associated with skewed X-inactivation, to an early-onset neurological disease trait (EONDT) of severe developmental delay, intellectual disability, and behavioral abnormalities. 31448840 2020
Entrez Id: 5354
Gene Symbol: PLP1
PLP1
0.140 GeneticVariation disease BEFREE Pelizaeus-Merzbacher disease (PMD) is an X-linked leukodystrophy caused by mutations in Proteolipid Protein 1 (PLP1), encoding a major myelin protein, resulting in profound developmental delay and early lethality. 31585094 2019
Entrez Id: 5354
Gene Symbol: PLP1
PLP1
0.140 GeneticVariation disease BEFREE Pelizaeus-Merzbacher disease (PMD; MIM#312080) is a rare X-linked leukodystrophy presenting with motor developmental delay associated with spasticity and nystagmus. 22490426 2012
Entrez Id: 5354
Gene Symbol: PLP1
PLP1
0.140 GeneticVariation disease BEFREE We report that a deletion of 19 base pairs (bp) in intron 3 of the proteolipid protein (PLP/DM20) gene causes a neurological disease characterized by mild developmental delay, followed by progressive decline of acquired motor and cognitive milestones. 12325077 2002
Entrez Id: 5354
Gene Symbol: PLP1
PLP1
0.140 Biomarker disease HPO