Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5744
Gene Symbol: PTHLH
PTHLH
0.020 GeneticVariation disease BEFREE Pelizaeus-Merzbacher disease (PMD) and a complicated form of familial spastic paraparesis (spastic paraplegia 2 [SPG2]) are X-linked development disorders of myelin formation caused by a mutation in the proteolipid protein (PLP) gene.Spastic paraplegia 2 is allelic to PMD. 12580714 2003
Entrez Id: 5744
Gene Symbol: PTHLH
PTHLH
0.020 GeneticVariation disease BEFREE Here we review the dosage effects and mutations of the proteolipid protein (PLP) gene that causes Pelizaeus-Merzbacher disease (PMD) and spastic paraplegia Type 2 (SPG2) disorders of CNS myelination. 11535114 2002