Gene: PLP1 ×
Source: UNIPROT ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs132630278
rs132630278
PLP1 ; RAB9B
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
PLP1 ; RAB9B
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
PLP1 ; RAB9B
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
PLP1 ; RAB9B
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
PLP1 ; RAB9B
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
PLP1 ; RAB9B
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
PLP1 ; RAB9B
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
PLP1 ; RAB9B
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
PLP1 ; RAB9B
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
PLP1 ; RAB9B
0.800 GeneticVariation UNIPROT Pelizaeus-Merzbacher disease: three novel mutations and implication for locus heterogeneity. 9894878

1999
dbSNP: rs132630278
rs132630278
PLP1 ; RAB9B
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: rs132630278
rs132630278
PLP1 ; RAB9B
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
PLP1 ; RAB9B
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
PLP1 ; RAB9B
0.800 GeneticVariation UNIPROT Pelizaeus-Merzbacher disease: three novel mutations and implication for locus heterogeneity. 9894878

1999
dbSNP: rs132630279
rs132630279
PLP1 ; RAB9B
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
PLP1 ; RAB9B
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: rs132630279
rs132630279
PLP1 ; RAB9B
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: rs132630280
rs132630280
PLP1 ; RAB9B
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: rs132630280
rs132630280
PLP1 ; RAB9B
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: rs132630280
rs132630280
PLP1 ; RAB9B
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: rs132630280
rs132630280
PLP1 ; RAB9B
0.800 GeneticVariation UNIPROT Pelizaeus-Merzbacher disease: three novel mutations and implication for locus heterogeneity. 9894878

1999
dbSNP: rs132630281
rs132630281
PLP1 ; RAB9B
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: rs132630281
rs132630281
PLP1 ; RAB9B
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: rs132630281
rs132630281
PLP1 ; RAB9B
0.800 GeneticVariation UNIPROT Pelizaeus-Merzbacher disease: three novel mutations and implication for locus heterogeneity. 9894878

1999
dbSNP: rs132630281
rs132630281
PLP1 ; RAB9B
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