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:

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:

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:

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:

rs397515441

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:

rs397515442

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:

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:

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:

rs397515441

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:

rs397515442

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:

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:

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:

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:

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:

rs397515441

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:

rs397515442

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:

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:

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:

rs397515441

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:

rs397515442

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:

rs4471028

Entrez Id:	54332
Gene Symbol:	GDAP1

GDAP1

CUI:	C0455829
Disease:

Waist Circumference

0.800

GeneticVariation

GWASCAT

The top SNPs to be associated with mean BMI and mean WC by GEE were rs110683 (p-value 1.22*10(-7)) and rs4471028 (p-values 1.96*10(-7)).

17903300

2007

dbSNP:

rs4471028

Entrez Id:	54332
Gene Symbol:	GDAP1

GDAP1

CUI:	C0455829
Disease:

Waist Circumference

0.800

GeneticVariation

GWASDB

The top SNPs to be associated with mean BMI and mean WC by GEE were rs110683 (p-value 1.22*10(-7)) and rs4471028 (p-values 1.96*10(-7)).

17903300

2007

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