Source: GENOMICS_ENGLAND

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5354
Gene Symbol: PLP1
PLP1
CUI: C1839264
Disease: SPASTIC PARAPLEGIA 2, X-LINKED (disorder)
SPASTIC PARAPLEGIA 2, X-LINKED (disorder) 		1.000 Biomarker GENOMICS_ENGLAND A clinical approach to the diagnosis of patients with leukodystrophies and genetic leukoencephelopathies. 25655951

2015
Entrez Id: 5354
Gene Symbol: PLP1
PLP1
CUI: C1839264
Disease: SPASTIC PARAPLEGIA 2, X-LINKED (disorder)
SPASTIC PARAPLEGIA 2, X-LINKED (disorder) 		1.000 Biomarker GENOMICS_ENGLAND Genotype-phenotype correlation in inherited brain myelination defects due to proteolipid protein gene mutations. Clinical European Network on Brain Dysmyelinating Disease. 11093273

2000
Entrez Id: 5354
Gene Symbol: PLP1
PLP1
CUI: C1839264
Disease: SPASTIC PARAPLEGIA 2, X-LINKED (disorder)
SPASTIC PARAPLEGIA 2, X-LINKED (disorder) 		1.000 Biomarker GENOMICS_ENGLAND Novel nonsense proteolipid protein gene mutation as a cause of X-linked spastic paraplegia in twin males. 7488049

1995
Entrez Id: 5354
Gene Symbol: PLP1
PLP1
CUI: C1839264
Disease: SPASTIC PARAPLEGIA 2, X-LINKED (disorder)
SPASTIC PARAPLEGIA 2, X-LINKED (disorder) 		1.000 Biomarker GENOMICS_ENGLAND X-linked spastic paraplegia and Pelizaeus-Merzbacher disease are allelic disorders at the proteolipid protein locus. 8012387

1994
Entrez Id: 5354
Gene Symbol: PLP1
PLP1
CUI: C1839264
Disease: SPASTIC PARAPLEGIA 2, X-LINKED (disorder)
SPASTIC PARAPLEGIA 2, X-LINKED (disorder) 		1.000 Biomarker GENOMICS_ENGLAND A sex-linked recessive form of spastic paraplegia. 14452137

1962
Entrez Id: 5354
Gene Symbol: PLP1
PLP1
CUI: C1839264
Disease: SPASTIC PARAPLEGIA 2, X-LINKED (disorder)
SPASTIC PARAPLEGIA 2, X-LINKED (disorder) 		1.000 Biomarker GENOMICS_ENGLAND