Gene: PLP1 ×
Source: CURATED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs797045064
rs797045064
PLP1 ; RAB9B
G 0.700 CausalMutation CLINVAR Molecular diagnostic experience of whole-exome sequencing in adult patients. 26633545

2016
dbSNP: rs797045064
rs797045064
PLP1 ; RAB9B
G 0.700 CausalMutation CLINVAR Degree of hypomyelination and magnetic resonance spectroscopy findings in patients with Pelizaeus Merzbacher phenotype. 12910435

2003
dbSNP: rs132630286
rs132630286
PLP1 ; RAB9B
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: rs398123466
rs398123466
PLP1 ; RAB9B
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: rs398123467
rs398123467
PLP1 ; RAB9B
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: rs132630286
rs132630286
PLP1 ; RAB9B
0.700 GeneticVariation UNIPROT Pelizaeus-Merzbacher disease: three novel mutations and implication for locus heterogeneity. 9894878

1999
dbSNP: rs132630286
rs132630286
PLP1 ; RAB9B
0.700 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: rs132630286
rs132630286
PLP1 ; RAB9B
0.700 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: rs132630286
rs132630286
PLP1 ; RAB9B
0.700 GeneticVariation UNIPROT A novel mutation (A246T) in exon 6 of the proteolipid protein gene associated with connatal Pelizaeus-Merzbacher disease. 10425042

1999
dbSNP: rs398123466
rs398123466
PLP1 ; RAB9B
0.700 GeneticVariation UNIPROT A novel mutation (A246T) in exon 6 of the proteolipid protein gene associated with connatal Pelizaeus-Merzbacher disease. 10425042

1999
dbSNP: rs398123466
rs398123466
PLP1 ; RAB9B
0.700 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: rs398123466
rs398123466
PLP1 ; RAB9B
0.700 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: rs398123466
rs398123466
PLP1 ; RAB9B
0.700 GeneticVariation UNIPROT Pelizaeus-Merzbacher disease: three novel mutations and implication for locus heterogeneity. 9894878

1999
dbSNP: rs398123467
rs398123467
PLP1 ; RAB9B
0.700 GeneticVariation UNIPROT Pelizaeus-Merzbacher disease: three novel mutations and implication for locus heterogeneity. 9894878

1999
dbSNP: rs398123467
rs398123467
PLP1 ; RAB9B
0.700 GeneticVariation UNIPROT A novel mutation (A246T) in exon 6 of the proteolipid protein gene associated with connatal Pelizaeus-Merzbacher disease. 10425042

1999
dbSNP: rs398123467
rs398123467
PLP1 ; RAB9B
0.700 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: rs398123467
rs398123467
PLP1 ; RAB9B
0.700 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: rs132630286
rs132630286
PLP1 ; RAB9B
0.700 GeneticVariation UNIPROT Connatal Pelizaeus-Merzbacher disease: a missense mutation in exon 4 of the proteolipid protein (PLP) gene. 9747038

1998
dbSNP: rs132630286
rs132630286
PLP1 ; RAB9B
0.700 GeneticVariation UNIPROT Jimpy(msd) mouse mutation and connatal Pelizaeus-Merzbacher disease. 9482656

1998
dbSNP: rs132630286
rs132630286
PLP1 ; RAB9B
0.700 GeneticVariation UNIPROT Duplication of the proteolipid protein gene is the major cause of Pelizaeus-Merzbacher disease. 9633722

1998
dbSNP: rs398123466
rs398123466
PLP1 ; RAB9B
0.700 GeneticVariation UNIPROT Jimpy(msd) mouse mutation and connatal Pelizaeus-Merzbacher disease. 9482656

1998
dbSNP: rs398123466
rs398123466
PLP1 ; RAB9B
0.700 GeneticVariation UNIPROT Connatal Pelizaeus-Merzbacher disease: a missense mutation in exon 4 of the proteolipid protein (PLP) gene. 9747038

1998
dbSNP: rs398123466
rs398123466
PLP1 ; RAB9B
0.700 GeneticVariation UNIPROT Duplication of the proteolipid protein gene is the major cause of Pelizaeus-Merzbacher disease. 9633722

1998
dbSNP: rs398123467
rs398123467
PLP1 ; RAB9B
0.700 GeneticVariation UNIPROT Connatal Pelizaeus-Merzbacher disease: a missense mutation in exon 4 of the proteolipid protein (PLP) gene. 9747038

1998
dbSNP: rs398123467
rs398123467
PLP1 ; RAB9B
0.700 GeneticVariation UNIPROT Duplication of the proteolipid protein gene is the major cause of Pelizaeus-Merzbacher disease. 9633722

1998