DisGeNET - a database of gene-disease associations

Pelizaeus-Merzbacher Disease, C0205711

Gene: PLP1 ×

Source: CURATED ×

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs398123467

PLP1 ; RAB9B

0.700

GeneticVariation

UNIPROT

Jimpy(msd) mouse mutation and connatal Pelizaeus-Merzbacher disease.

9482656

1998

dbSNP:

rs132630286

PLP1 ; RAB9B

0.700

GeneticVariation

UNIPROT

Mutations in the proteolipid protein gene in Japanese families with Pelizaeus-Merzbacher disease.

9008538

1997

dbSNP:

rs398123466

PLP1 ; RAB9B

0.700

GeneticVariation

UNIPROT

Mutations in the proteolipid protein gene in Japanese families with Pelizaeus-Merzbacher disease.

9008538

1997

dbSNP:

rs398123467

PLP1 ; RAB9B

0.700

GeneticVariation

UNIPROT

Mutations in the proteolipid protein gene in Japanese families with Pelizaeus-Merzbacher disease.

9008538

1997

dbSNP:

rs132630286

PLP1 ; RAB9B

0.700

GeneticVariation

UNIPROT

A novel mutation in exon 3 of the proteolipid protein gene in Pelizaeus-Merzbacher disease.

7531827

1995

dbSNP:

rs132630286

PLP1 ; RAB9B

0.700

GeneticVariation

UNIPROT

Pelizaeus-Merzbacher disease: a point mutation in exon 6 of the proteolipid protein (PLP) gene.

7541731

1995

dbSNP:

rs132630286

PLP1 ; RAB9B

0.700

GeneticVariation

UNIPROT

In-frame deletion in the proteolipid protein gene of a family with Pelizaeus-Merzbacher disease.

7539213

1995

dbSNP:

rs132630286

PLP1 ; RAB9B

0.700

GeneticVariation

UNIPROT

Pelizaeus-Merzbacher disease caused by a de novo mutation that originated in exon 2 of the maternal great-grandfather of the propositus.

7573159

1995

dbSNP:

rs398123466

PLP1 ; RAB9B

0.700

GeneticVariation

UNIPROT

A novel mutation in exon 3 of the proteolipid protein gene in Pelizaeus-Merzbacher disease.

7531827

1995

dbSNP:

rs398123466

PLP1 ; RAB9B

0.700

GeneticVariation

UNIPROT

In-frame deletion in the proteolipid protein gene of a family with Pelizaeus-Merzbacher disease.

7539213

1995

dbSNP:

rs398123466

PLP1 ; RAB9B

0.700

GeneticVariation

UNIPROT

Pelizaeus-Merzbacher disease caused by a de novo mutation that originated in exon 2 of the maternal great-grandfather of the propositus.

7573159

1995

dbSNP:

rs398123466

PLP1 ; RAB9B

0.700

GeneticVariation

UNIPROT

Pelizaeus-Merzbacher disease: a point mutation in exon 6 of the proteolipid protein (PLP) gene.

7541731

1995

dbSNP:

rs398123467

PLP1 ; RAB9B

0.700

GeneticVariation

UNIPROT

A novel mutation in exon 3 of the proteolipid protein gene in Pelizaeus-Merzbacher disease.

7531827

1995

dbSNP:

rs398123467

PLP1 ; RAB9B

0.700

GeneticVariation

UNIPROT

In-frame deletion in the proteolipid protein gene of a family with Pelizaeus-Merzbacher disease.

7539213

1995

dbSNP:

rs398123467

PLP1 ; RAB9B

0.700

GeneticVariation

UNIPROT

Pelizaeus-Merzbacher disease: a point mutation in exon 6 of the proteolipid protein (PLP) gene.

7541731

1995

dbSNP:

rs398123467

PLP1 ; RAB9B

0.700

GeneticVariation

UNIPROT

Pelizaeus-Merzbacher disease caused by a de novo mutation that originated in exon 2 of the maternal great-grandfather of the propositus.

7573159

1995

dbSNP:

rs132630286

PLP1 ; RAB9B

0.700

GeneticVariation

UNIPROT

Comparison of statistics for candidate-gene association studies using cases and parents.

8037216

1994

dbSNP:

rs398123466

PLP1 ; RAB9B

0.700

GeneticVariation

UNIPROT

Comparison of statistics for candidate-gene association studies using cases and parents.

8037216

1994

dbSNP:

rs398123467

PLP1 ; RAB9B

0.700

GeneticVariation

UNIPROT

Comparison of statistics for candidate-gene association studies using cases and parents.

8037216

1994

dbSNP:

rs132630286

PLP1 ; RAB9B

0.700

GeneticVariation

UNIPROT

Direct sequencing of the PLP gene and PLP mRNAs from the brain of the PMD patient revealed a G to T transition in exon V of the PLP gene, which leads to a glycine to cysteine substitution at residue 220.

7683951

1993

dbSNP:

rs398123466

PLP1 ; RAB9B

0.700

GeneticVariation

UNIPROT

A missense mutation in the proteolipid protein gene responsible for Pelizaeus-Merzbacher disease in a Japanese family.

7683951

1993

dbSNP:

rs398123467

PLP1 ; RAB9B

0.700

GeneticVariation

UNIPROT

A missense mutation in the proteolipid protein gene responsible for Pelizaeus-Merzbacher disease in a Japanese family.

7683951

1993

dbSNP:

rs132630286

PLP1 ; RAB9B

0.700

GeneticVariation

UNIPROT

Pelizaeus-Merzbacher disease: detection of mutations Thr181----Pro and Leu223----Pro in the proteolipid protein gene, and prenatal diagnosis.

1384324

1992

dbSNP:

rs398123466

PLP1 ; RAB9B

0.700

GeneticVariation

UNIPROT

Pelizaeus-Merzbacher disease: detection of mutations Thr181----Pro and Leu223----Pro in the proteolipid protein gene, and prenatal diagnosis.

1384324

1992

dbSNP:

rs398123467

PLP1 ; RAB9B

0.700

GeneticVariation

UNIPROT

Pelizaeus-Merzbacher disease: detection of mutations Thr181----Pro and Leu223----Pro in the proteolipid protein gene, and prenatal diagnosis.

1384324

1992