DisGeNET - a database of gene-disease associations

GDAP1, ganglioside induced differentiation associated protein 1, 54332

N. diseases: 96; N. variants: 44

Source: ALL

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

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs104894076

Entrez Id:	54332
Gene Symbol:	GDAP1

GDAP1

CUI:	C1859198
Disease:

CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A (disorder)

0.800

GeneticVariation

UNIPROT

CMT4A: identification of a Hispanic GDAP1 founder mutation.

12601710

2003

dbSNP:

rs104894076

Entrez Id:	54332
Gene Symbol:	GDAP1

GDAP1

CUI:	C1859198
Disease:

CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A (disorder)

0.800

GeneticVariation

UNIPROT

GDAP1, the protein causing Charcot-Marie-Tooth disease type 4A, is expressed in neurons and is associated with mitochondria.

15772096

2005

dbSNP:

rs104894076

Entrez Id:	54332
Gene Symbol:	GDAP1

GDAP1

CUI:	C1859198
Disease:

CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A (disorder)

0.800

GeneticVariation

UNIPROT

Ganglioside-induced differentiation-associated protein-1 is mutant in Charcot-Marie-Tooth disease type 4A/8q21.

11743579

2002

dbSNP:

rs104894076

Entrez Id:	54332
Gene Symbol:	GDAP1

GDAP1

CUI:	C1859198
Disease:

CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A (disorder)

0.800

GeneticVariation

UNIPROT

Ganglioside-induced differentiation associated protein 1 is a regulator of the mitochondrial network: new implications for Charcot-Marie-Tooth disease.

16172208

2005

dbSNP:

rs104894078

Entrez Id:	54332
Gene Symbol:	GDAP1

GDAP1

CUI:	C1842983
Disease:

CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2K

0.800

GeneticVariation

UNIPROT

The mutational spectrum in a cohort of Charcot-Marie-Tooth disease type 2 among the Han Chinese in Taiwan.

22206013

2011

dbSNP:

rs104894078

Entrez Id:	54332
Gene Symbol:	GDAP1

GDAP1

CUI:	C1842983
Disease:

CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2K

0.800

GeneticVariation

UNIPROT

The GST domain of GDAP1 is a frequent target of mutations in the dominant form of axonal Charcot Marie Tooth type 2K.

20685671

2010

dbSNP:

rs104894078

Entrez Id:	54332
Gene Symbol:	GDAP1

GDAP1

CUI:	C1842983
Disease:

CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2K

0.800

GeneticVariation

UNIPROT

Clinical and mutational spectrum of Japanese patients with Charcot-Marie-Tooth disease caused by GDAP1 variants.

28244113

2017

dbSNP:

rs104894078

Entrez Id:	54332
Gene Symbol:	GDAP1

GDAP1

CUI:	C1842983
Disease:

CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2K

0.800

GeneticVariation

UNIPROT

GDAP1 mutations in Italian axonal Charcot-Marie-Tooth patients: Phenotypic features and clinical course.

26525999

2016

dbSNP:

rs104894078

Entrez Id:	54332
Gene Symbol:	GDAP1

GDAP1

CUI:	C1842983
Disease:

CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2K

0.800

GeneticVariation

UNIPROT

GDAP1, the protein causing Charcot-Marie-Tooth disease type 4A, is expressed in neurons and is associated with mitochondria.

15772096

2005

dbSNP:

rs121908113

Entrez Id:	54332
Gene Symbol:	GDAP1

GDAP1

CUI:	C1842983
Disease:

CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2K

0.800

GeneticVariation

UNIPROT

GDAP1 mutations in Italian axonal Charcot-Marie-Tooth patients: Phenotypic features and clinical course.

26525999

2016

dbSNP:

rs121908113

Entrez Id:	54332
Gene Symbol:	GDAP1

GDAP1

CUI:	C1842983
Disease:

CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2K

0.800

GeneticVariation

UNIPROT

The GST domain of GDAP1 is a frequent target of mutations in the dominant form of axonal Charcot Marie Tooth type 2K.

20685671

2010

dbSNP:

rs121908113

Entrez Id:	54332
Gene Symbol:	GDAP1

GDAP1

CUI:	C1842983
Disease:

CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2K

0.800

GeneticVariation

UNIPROT

Clinical and mutational spectrum of Japanese patients with Charcot-Marie-Tooth disease caused by GDAP1 variants.

28244113

2017

dbSNP:

rs121908113

Entrez Id:	54332
Gene Symbol:	GDAP1

GDAP1

CUI:	C1842983
Disease:

CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2K

0.800

GeneticVariation

UNIPROT

GDAP1, the protein causing Charcot-Marie-Tooth disease type 4A, is expressed in neurons and is associated with mitochondria.

15772096

2005

dbSNP:

rs121908113

Entrez Id:	54332
Gene Symbol:	GDAP1

GDAP1

CUI:	C1842983
Disease:

CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2K

0.800

GeneticVariation

UNIPROT

The mutational spectrum in a cohort of Charcot-Marie-Tooth disease type 2 among the Han Chinese in Taiwan.

22206013

2011

dbSNP:

rs16938910

Entrez Id:	54332
Gene Symbol:	GDAP1

GDAP1

CUI:	C0003873
Disease:

Rheumatoid Arthritis

0.800

GeneticVariation

GWASDB

Genome-wide association analysis implicates the involvement of eight loci with response to tocilizumab for the treatment of rheumatoid arthritis.

22491018

2013

dbSNP:

rs16938910

Entrez Id:	54332
Gene Symbol:	GDAP1

GDAP1

CUI:	C0003873
Disease:

Rheumatoid Arthritis

0.800

GeneticVariation

GWASCAT

Genome-wide association analysis implicates the involvement of eight loci with response to tocilizumab for the treatment of rheumatoid arthritis.

22491018

2013

dbSNP:

rs267606842

Entrez Id:	54332
Gene Symbol:	GDAP1

GDAP1

CUI:	C1842983
Disease:

CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2K

0.800

GeneticVariation

UNIPROT

Clinical and mutational spectrum of Japanese patients with Charcot-Marie-Tooth disease caused by GDAP1 variants.

28244113

2017

dbSNP:

rs267606842

Entrez Id:	54332
Gene Symbol:	GDAP1

GDAP1

CUI:	C1842983
Disease:

CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2K

0.800

GeneticVariation

UNIPROT

The GST domain of GDAP1 is a frequent target of mutations in the dominant form of axonal Charcot Marie Tooth type 2K.

20685671

2010

dbSNP:

rs267606842

Entrez Id:	54332
Gene Symbol:	GDAP1

GDAP1

CUI:	C1842983
Disease:

CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2K

0.800

GeneticVariation

UNIPROT

GDAP1, the protein causing Charcot-Marie-Tooth disease type 4A, is expressed in neurons and is associated with mitochondria.

15772096

2005

dbSNP:

rs267606842

Entrez Id:	54332
Gene Symbol:	GDAP1

GDAP1

CUI:	C1842983
Disease:

CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2K

0.800

GeneticVariation

UNIPROT

The mutational spectrum in a cohort of Charcot-Marie-Tooth disease type 2 among the Han Chinese in Taiwan.

22206013

2011

dbSNP:

rs267606842

Entrez Id:	54332
Gene Symbol:	GDAP1

GDAP1

CUI:	C1842983
Disease:

CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2K

0.800

GeneticVariation

UNIPROT

GDAP1 mutations in Italian axonal Charcot-Marie-Tooth patients: Phenotypic features and clinical course.

26525999

2016

dbSNP:

rs28937906

Entrez Id:	54332
Gene Symbol:	GDAP1

GDAP1

CUI:	C1842197
Disease:

Charcot-Marie-Tooth Disease, Recessive Intermediate A

0.800

GeneticVariation

UNIPROT

GDAP1, the protein causing Charcot-Marie-Tooth disease type 4A, is expressed in neurons and is associated with mitochondria.

15772096

2005

dbSNP:

rs28937906

Entrez Id:	54332
Gene Symbol:	GDAP1

GDAP1

CUI:	C1842197
Disease:

Charcot-Marie-Tooth Disease, Recessive Intermediate A

0.800

GeneticVariation

UNIPROT

Mutations in GDAP1: autosomal recessive CMT with demyelination and axonopathy.

12499475

2002

dbSNP:

rs28937906

Entrez Id:	54332
Gene Symbol:	GDAP1

GDAP1

CUI:	C1842197
Disease:

Charcot-Marie-Tooth Disease, Recessive Intermediate A

0.800

GeneticVariation

UNIPROT

Mutations in the ganglioside-induced differentiation-associated protein-1 (GDAP1) gene in intermediate type autosomal recessive Charcot-Marie-Tooth neuropathy.

12566285

2003

dbSNP:

rs28937906

Entrez Id:	54332
Gene Symbol:	GDAP1

GDAP1

CUI:	C1842197
Disease:

Charcot-Marie-Tooth Disease, Recessive Intermediate A

0.800

GeneticVariation

UNIPROT

Ganglioside-induced differentiation associated protein 1 is a regulator of the mitochondrial network: new implications for Charcot-Marie-Tooth disease.

16172208

2005