PLP1, proteolipid protein 1, 5354

N. diseases: 160; N. variants: 43
Disease: SPASTIC PARAPLEGIA 2, X-LINKED (disorder) ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs878853076
rs878853076
Entrez Id: 5354;51209
Gene Symbol: PLP1;RAB9B
PLP1;RAB9B
CUI: C1839264
Disease:
SPASTIC PARAPLEGIA 2, X-LINKED (disorder) 		0.700 GeneticVariation UNIPROT A novel mutation in PLP1 causes severe hereditary spastic paraplegia type 2. 24103481 2014
dbSNP: rs878853076
rs878853076
Entrez Id: 5354;51209
Gene Symbol: PLP1;RAB9B
PLP1;RAB9B
CUI: C1839264
Disease:
SPASTIC PARAPLEGIA 2, X-LINKED (disorder) 		0.700 GeneticVariation UNIPROT Steroid-responsive neurologic relapses in a child with a proteolipid protein-1 mutation. 17438221 2007
dbSNP: rs878853076
rs878853076
Entrez Id: 5354;51209
Gene Symbol: PLP1;RAB9B
PLP1;RAB9B
CUI: C1839264
Disease:
SPASTIC PARAPLEGIA 2, X-LINKED (disorder) 		0.700 GeneticVariation UNIPROT A case of complicated spastic paraplegia 2 due to a point mutation in the proteolipid protein 1 gene. 15450775 2004
dbSNP: rs878853076
rs878853076
Entrez Id: 5354;51209
Gene Symbol: PLP1;RAB9B
PLP1;RAB9B
CUI: C1839264
Disease:
SPASTIC PARAPLEGIA 2, X-LINKED (disorder) 		0.700 GeneticVariation UNIPROT Genotype-phenotype correlation in inherited brain myelination defects due to proteolipid protein gene mutations. Clinical European Network on Brain Dysmyelinating Disease. 11093273 2000
dbSNP: rs878853076
rs878853076
Entrez Id: 5354;51209
Gene Symbol: PLP1;RAB9B
PLP1;RAB9B
CUI: C1839264
Disease:
SPASTIC PARAPLEGIA 2, X-LINKED (disorder) 		0.700 GeneticVariation UNIPROT Novel exon 3B proteolipid protein gene mutation causing late-onset spastic paraplegia type 2 with variable penetrance in female family members. 10319897 1999
dbSNP: rs878853076
rs878853076
Entrez Id: 5354;51209
Gene Symbol: PLP1;RAB9B
PLP1;RAB9B
CUI: C1839264
Disease:
SPASTIC PARAPLEGIA 2, X-LINKED (disorder) 		0.700 GeneticVariation UNIPROT X-linked spastic paraplegia due to a mutation (C506T; Ser169Phe) in exon 4 of the proteolipid protein gene (PLP). 9489796 1998
dbSNP: rs878853076
rs878853076
Entrez Id: 5354;51209
Gene Symbol: PLP1;RAB9B
PLP1;RAB9B
CUI: C1839264
Disease:
SPASTIC PARAPLEGIA 2, X-LINKED (disorder) 		0.700 GeneticVariation UNIPROT Refined genetic mapping and proteolipid protein mutation analysis in X-linked pure hereditary spastic paraplegia. 8780101 1996
dbSNP: rs878853076
rs878853076
Entrez Id: 5354;51209
Gene Symbol: PLP1;RAB9B
PLP1;RAB9B
CUI: C1839264
Disease:
SPASTIC PARAPLEGIA 2, X-LINKED (disorder) 		0.700 GeneticVariation UNIPROT A novel mutation in exon 6 (F236S) of the proteolipid protein gene is associated with spastic paraplegia. 8956049 1996
dbSNP: rs878853076
rs878853076
Entrez Id: 5354;51209
Gene Symbol: PLP1;RAB9B
PLP1;RAB9B
CUI: C1839264
Disease:
SPASTIC PARAPLEGIA 2, X-LINKED (disorder) 		0.700 GeneticVariation UNIPROT The rumpshaker mutation in spastic paraplegia. 7522741 1994
dbSNP: rs878853076
rs878853076
Entrez Id: 5354;51209
Gene Symbol: PLP1;RAB9B
PLP1;RAB9B
CUI: C1839264
Disease:
SPASTIC PARAPLEGIA 2, X-LINKED (disorder) 		0.700 GeneticVariation UNIPROT X-linked spastic paraplegia and Pelizaeus-Merzbacher disease are allelic disorders at the proteolipid protein locus. 8012387 1994