PLP1, proteolipid protein 1, 5354

N. diseases: 160; N. variants: 43
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs132630287
rs132630287
Entrez Id: 5354;51209
Gene Symbol: PLP1;RAB9B
PLP1;RAB9B
CUI: C1839264
Disease:
SPASTIC PARAPLEGIA 2, X-LINKED (disorder) 		0.800 GeneticVariation UNIPROT A novel mutation in PLP1 causes severe hereditary spastic paraplegia type 2. 24103481 2014
dbSNP: rs132630288
rs132630288
Entrez Id: 5354;51209
Gene Symbol: PLP1;RAB9B
PLP1;RAB9B
CUI: C1839264
Disease:
SPASTIC PARAPLEGIA 2, X-LINKED (disorder) 		0.800 GeneticVariation UNIPROT A novel mutation in PLP1 causes severe hereditary spastic paraplegia type 2. 24103481 2014
dbSNP: rs132630287
rs132630287
Entrez Id: 5354;51209
Gene Symbol: PLP1;RAB9B
PLP1;RAB9B
CUI: C1839264
Disease:
SPASTIC PARAPLEGIA 2, X-LINKED (disorder) 		0.800 GeneticVariation UNIPROT Steroid-responsive neurologic relapses in a child with a proteolipid protein-1 mutation. 17438221 2007
dbSNP: rs132630288
rs132630288
Entrez Id: 5354;51209
Gene Symbol: PLP1;RAB9B
PLP1;RAB9B
CUI: C1839264
Disease:
SPASTIC PARAPLEGIA 2, X-LINKED (disorder) 		0.800 GeneticVariation UNIPROT Steroid-responsive neurologic relapses in a child with a proteolipid protein-1 mutation. 17438221 2007
dbSNP: rs132630287
rs132630287
Entrez Id: 5354;51209
Gene Symbol: PLP1;RAB9B
PLP1;RAB9B
CUI: C1839264
Disease:
SPASTIC PARAPLEGIA 2, X-LINKED (disorder) 		0.800 GeneticVariation UNIPROT A case of complicated spastic paraplegia 2 due to a point mutation in the proteolipid protein 1 gene. 15450775 2004
dbSNP: rs132630288
rs132630288
Entrez Id: 5354;51209
Gene Symbol: PLP1;RAB9B
PLP1;RAB9B
CUI: C1839264
Disease:
SPASTIC PARAPLEGIA 2, X-LINKED (disorder) 		0.800 GeneticVariation UNIPROT A case of complicated spastic paraplegia 2 due to a point mutation in the proteolipid protein 1 gene. 15450775 2004
dbSNP: rs132630278
rs132630278
Entrez Id: 5354;51209
Gene Symbol: PLP1;RAB9B
PLP1;RAB9B
CUI: C0205711
Disease:
Pelizaeus-Merzbacher Disease 		0.800 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: rs132630279
rs132630279
Entrez Id: 5354;51209
Gene Symbol: PLP1;RAB9B
PLP1;RAB9B
CUI: C0205711
Disease:
Pelizaeus-Merzbacher Disease 		0.800 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: rs132630280
rs132630280
Entrez Id: 5354;51209
Gene Symbol: PLP1;RAB9B
PLP1;RAB9B
CUI: C0205711
Disease:
Pelizaeus-Merzbacher Disease 		0.800 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: rs132630281
rs132630281
Entrez Id: 5354;51209
Gene Symbol: PLP1;RAB9B
PLP1;RAB9B
CUI: C0205711
Disease:
Pelizaeus-Merzbacher Disease 		0.800 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: rs132630282
rs132630282
Entrez Id: 5354;51209
Gene Symbol: PLP1;RAB9B
PLP1;RAB9B
CUI: C0205711
Disease:
Pelizaeus-Merzbacher Disease 		0.800 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: rs132630283
rs132630283
Entrez Id: 5354;51209
Gene Symbol: PLP1;RAB9B
PLP1;RAB9B
CUI: C0205711
Disease:
Pelizaeus-Merzbacher Disease 		0.800 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: rs132630284
rs132630284
Entrez Id: 5354;51209
Gene Symbol: PLP1;RAB9B
PLP1;RAB9B
CUI: C0205711
Disease:
Pelizaeus-Merzbacher Disease 		0.800 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: rs132630285
rs132630285
Entrez Id: 5354;51209
Gene Symbol: PLP1;RAB9B
PLP1;RAB9B
CUI: C0205711
Disease:
Pelizaeus-Merzbacher Disease 		0.800 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: rs132630287
rs132630287
Entrez Id: 5354;51209
Gene Symbol: PLP1;RAB9B
PLP1;RAB9B
CUI: C1839264
Disease:
SPASTIC PARAPLEGIA 2, X-LINKED (disorder) 		0.800 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: rs132630288
rs132630288
Entrez Id: 5354;51209
Gene Symbol: PLP1;RAB9B
PLP1;RAB9B
CUI: C1839264
Disease:
SPASTIC PARAPLEGIA 2, X-LINKED (disorder) 		0.800 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: rs132630289
rs132630289
Entrez Id: 5354;51209
Gene Symbol: PLP1;RAB9B
PLP1;RAB9B
CUI: C0205711
Disease:
Pelizaeus-Merzbacher Disease 		0.800 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: rs132630278
rs132630278
Entrez Id: 5354;51209
Gene Symbol: PLP1;RAB9B
PLP1;RAB9B
CUI: C0205711
Disease:
Pelizaeus-Merzbacher Disease 		0.800 GeneticVariation UNIPROT Pelizaeus-Merzbacher disease: three novel mutations and implication for locus heterogeneity. 9894878 1999
dbSNP: rs132630278
rs132630278
Entrez Id: 5354;51209
Gene Symbol: PLP1;RAB9B
PLP1;RAB9B
CUI: C0205711
Disease:
Pelizaeus-Merzbacher Disease 		0.800 GeneticVariation UNIPROT Different mutations in the same codon of the proteolipid protein gene, PLP, may help in correlating genotype with phenotype in Pelizaeus-Merzbacher disease/X-linked spastic paraplegia (PMD/SPG2). 9934976 1999
dbSNP: rs132630278
rs132630278
Entrez Id: 5354;51209
Gene Symbol: PLP1;RAB9B
PLP1;RAB9B
CUI: C0205711
Disease:
Pelizaeus-Merzbacher Disease 		0.800 GeneticVariation UNIPROT Proteolipoprotein gene analysis in 82 patients with sporadic Pelizaeus-Merzbacher Disease: duplications, the major cause of the disease, originate more frequently in male germ cells, but point mutations do not. The Clinical European Network on Brain Dysmyelinating Disease. 10417279 1999
dbSNP: rs132630278
rs132630278
Entrez Id: 5354;51209
Gene Symbol: PLP1;RAB9B
PLP1;RAB9B
CUI: C0205711
Disease:
Pelizaeus-Merzbacher Disease 		0.800 GeneticVariation UNIPROT A novel mutation (A246T) in exon 6 of the proteolipid protein gene associated with connatal Pelizaeus-Merzbacher disease. 10425042 1999
dbSNP: rs132630279
rs132630279
Entrez Id: 5354;51209
Gene Symbol: PLP1;RAB9B
PLP1;RAB9B
CUI: C0205711
Disease:
Pelizaeus-Merzbacher Disease 		0.800 GeneticVariation UNIPROT A novel mutation (A246T) in exon 6 of the proteolipid protein gene associated with connatal Pelizaeus-Merzbacher disease. 10425042 1999
dbSNP: rs132630279
rs132630279
Entrez Id: 5354;51209
Gene Symbol: PLP1;RAB9B
PLP1;RAB9B
CUI: C0205711
Disease:
Pelizaeus-Merzbacher Disease 		0.800 GeneticVariation UNIPROT Proteolipoprotein gene analysis in 82 patients with sporadic Pelizaeus-Merzbacher Disease: duplications, the major cause of the disease, originate more frequently in male germ cells, but point mutations do not. The Clinical European Network on Brain Dysmyelinating Disease. 10417279 1999
dbSNP: rs132630279
rs132630279
Entrez Id: 5354;51209
Gene Symbol: PLP1;RAB9B
PLP1;RAB9B
CUI: C0205711
Disease:
Pelizaeus-Merzbacher Disease 		0.800 GeneticVariation UNIPROT Pelizaeus-Merzbacher disease: three novel mutations and implication for locus heterogeneity. 9894878 1999
dbSNP: rs132630279
rs132630279
Entrez Id: 5354;51209
Gene Symbol: PLP1;RAB9B
PLP1;RAB9B
CUI: C0205711
Disease:
Pelizaeus-Merzbacher Disease 		0.800 GeneticVariation UNIPROT Different mutations in the same codon of the proteolipid protein gene, PLP, may help in correlating genotype with phenotype in Pelizaeus-Merzbacher disease/X-linked spastic paraplegia (PMD/SPG2). 9934976 1999