Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5354
Gene Symbol: PLP1
PLP1
0.120 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
0.120 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
0.120 Biomarker disease HPO