DisGeNET - a database of gene-disease associations

GDNF, glial cell derived neurotrophic factor, 2668

N. diseases: 409; N. variants: 13

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:

rs104893891

Entrez Id:	2668;100861519
Gene Symbol:	GDNF;GDNF-AS1

GDNF;GDNF-AS1

CUI:	C3150974
Disease:

HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 3

0.800

GeneticVariation

UNIPROT

Germline mutations in glial cell line-derived neurotrophic factor (GDNF) and RET in a Hirschsprung disease patient.

8896568

1996

dbSNP:

rs104893891

Entrez Id:	2668;100861519
Gene Symbol:	GDNF;GDNF-AS1

GDNF;GDNF-AS1

CUI:	C3150974
Disease:

HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 3

0.800

GeneticVariation

UNIPROT

De novo mutation of GDNF, ligand for the RET/GDNFR-alpha receptor complex, in Hirschsprung disease.

8968758

1996

dbSNP:

rs104893891

Entrez Id:	2668;100861519
Gene Symbol:	GDNF;GDNF-AS1

GDNF;GDNF-AS1

CUI:	C3150974
Disease:

HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 3

0.800

GeneticVariation

UNIPROT

Germline mutations of the RET ligand GDNF are not sufficient to cause Hirschsprung disease.

8896569

1996

dbSNP:

rs104893891

Entrez Id:	2668;100861519
Gene Symbol:	GDNF;GDNF-AS1

GDNF;GDNF-AS1

CUI:	C3150974
Disease:

HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 3

0.800

GeneticVariation

UNIPROT

Pathogenesis of Hirschsprung's disease.

10917288

2000

dbSNP:

rs104893891

Entrez Id:	2668;100861519
Gene Symbol:	GDNF;GDNF-AS1

GDNF;GDNF-AS1

CUI:	C3150974
Disease:

HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 3

0.800

SusceptibilityMutation

CLINVAR

dbSNP:

rs121918536

Entrez Id:	2668;100861519
Gene Symbol:	GDNF;GDNF-AS1

GDNF;GDNF-AS1

CUI:	C3150974
Disease:

HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 3

0.800

GeneticVariation

UNIPROT

Germline mutations of the RET ligand GDNF are not sufficient to cause Hirschsprung disease.

8896569

1996

dbSNP:

rs121918536

Entrez Id:	2668;100861519
Gene Symbol:	GDNF;GDNF-AS1

GDNF;GDNF-AS1

CUI:	C3150974
Disease:

HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 3

0.800

SusceptibilityMutation

CLINVAR

dbSNP:

rs121918536

Entrez Id:	2668;100861519
Gene Symbol:	GDNF;GDNF-AS1

GDNF;GDNF-AS1

CUI:	C3150974
Disease:

HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 3

0.800

GeneticVariation

UNIPROT

Germline mutations in glial cell line-derived neurotrophic factor (GDNF) and RET in a Hirschsprung disease patient.

8896568

1996

dbSNP:

rs121918536

Entrez Id:	2668;100861519
Gene Symbol:	GDNF;GDNF-AS1

GDNF;GDNF-AS1

CUI:	C3150974
Disease:

HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 3

0.800

GeneticVariation

UNIPROT

Pathogenesis of Hirschsprung's disease.

10917288

2000

dbSNP:

rs121918536

Entrez Id:	2668;100861519
Gene Symbol:	GDNF;GDNF-AS1

GDNF;GDNF-AS1

CUI:	C3150974
Disease:

HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 3

0.800

GeneticVariation

UNIPROT

De novo mutation of GDNF, ligand for the RET/GDNFR-alpha receptor complex, in Hirschsprung disease.

8968758

1996

dbSNP:

rs36119840

Entrez Id:	2668;100861519
Gene Symbol:	GDNF;GDNF-AS1

GDNF;GDNF-AS1

CUI:	C0031511
Disease:

Pheochromocytoma

0.710

GeneticVariation

BEFREE

No GDNF mutations were identified in patients with familial phaeochromocytoma disease, but a c277C-->T (R93W) sequence variant was identified in one of 28 sporadic tumours.

9215674

1997

dbSNP:

rs36119840

Entrez Id:	2668;100861519
Gene Symbol:	GDNF;GDNF-AS1

GDNF;GDNF-AS1

CUI:	C0031511
Disease:

Pheochromocytoma

0.710

GeneticVariation

UNIPROT

No GDNF mutations were identified in patients with familial phaeochromocytoma disease, but a c277C-->T (R93W) sequence variant was identified in one of 28 sporadic tumours.

9215674

1997

dbSNP:

rs11747340

Entrez Id:	2668;100861519
Gene Symbol:	GDNF;GDNF-AS1

GDNF;GDNF-AS1

CUI:	C2985280
Disease:

Blood Protein Measurement

0.700

GeneticVariation

GWASCAT

Genome and epigenome wide studies of neurological protein biomarkers in the Lothian Birth Cohort 1936.

31320639

2019

dbSNP:

rs36119840

Entrez Id:	2668;100861519
Gene Symbol:	GDNF;GDNF-AS1

GDNF;GDNF-AS1

CUI:	C3150974
Disease:

HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 3

0.700

GeneticVariation

UNIPROT

Germline mutations of the RET ligand GDNF are not sufficient to cause Hirschsprung disease.

8896569

1996

dbSNP:

rs36119840

Entrez Id:	2668;100861519
Gene Symbol:	GDNF;GDNF-AS1

GDNF;GDNF-AS1

CUI:	C3150974
Disease:

HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 3

0.700

GeneticVariation

UNIPROT

De novo mutation of GDNF, ligand for the RET/GDNFR-alpha receptor complex, in Hirschsprung disease.

8968758

1996

dbSNP:

rs36119840

Entrez Id:	2668;100861519
Gene Symbol:	GDNF;GDNF-AS1

GDNF;GDNF-AS1

CUI:	C1275808
Disease:

Congenital central hypoventilation

0.700

GeneticVariation

UNIPROT

An official ATS clinical policy statement: Congenital central hypoventilation syndrome: genetic basis, diagnosis, and management.

20208042

2010

dbSNP:

rs36119840

Entrez Id:	2668;100861519
Gene Symbol:	GDNF;GDNF-AS1

GDNF;GDNF-AS1

CUI:	C3150974
Disease:

HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 3

0.700

GeneticVariation

UNIPROT

Germline mutations in glial cell line-derived neurotrophic factor (GDNF) and RET in a Hirschsprung disease patient.

8896568

1996

dbSNP:

rs36119840

Entrez Id:	2668;100861519
Gene Symbol:	GDNF;GDNF-AS1

GDNF;GDNF-AS1

CUI:	C3150974
Disease:

HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 3

0.700

GeneticVariation

UNIPROT

Pathogenesis of Hirschsprung's disease.

10917288

2000

dbSNP:

rs36119840

Entrez Id:	2668;100861519
Gene Symbol:	GDNF;GDNF-AS1

GDNF;GDNF-AS1

CUI:	C1275808
Disease:

Congenital central hypoventilation

0.700

GeneticVariation

UNIPROT

Mutations of the RET-GDNF signaling pathway in Ondine's curse.

9497256

1998

dbSNP:

rs777451569

Entrez Id:	2668;100861519
Gene Symbol:	GDNF;GDNF-AS1

GDNF;GDNF-AS1

CUI:	C3150974
Disease:

HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 3

0.700

GeneticVariation

UNIPROT

De novo mutation of GDNF, ligand for the RET/GDNFR-alpha receptor complex, in Hirschsprung disease.

8968758

1996

dbSNP:

rs777451569

Entrez Id:	2668;100861519
Gene Symbol:	GDNF;GDNF-AS1

GDNF;GDNF-AS1

CUI:	C3150974
Disease:

HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 3

0.700

GeneticVariation

UNIPROT

Pathogenesis of Hirschsprung's disease.

10917288

2000

dbSNP:

rs777451569

Entrez Id:	2668;100861519
Gene Symbol:	GDNF;GDNF-AS1

GDNF;GDNF-AS1

CUI:	C3150974
Disease:

HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 3

0.700

GeneticVariation

UNIPROT

Germline mutations in glial cell line-derived neurotrophic factor (GDNF) and RET in a Hirschsprung disease patient.

8896568

1996

dbSNP:

rs777451569

Entrez Id:	2668;100861519
Gene Symbol:	GDNF;GDNF-AS1

GDNF;GDNF-AS1

CUI:	C3150974
Disease:

HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 3

0.700

GeneticVariation

UNIPROT

Germline mutations of the RET ligand GDNF are not sufficient to cause Hirschsprung disease.

8896569

1996

dbSNP:

rs760097344

Entrez Id:	2668;100861519
Gene Symbol:	GDNF;GDNF-AS1

GDNF;GDNF-AS1

CUI:	C0002736
Disease:

Amyotrophic Lateral Sclerosis

0.030

GeneticVariation

BEFREE

To evaluate the therapeutic potential of human neural progenitor cells (hNPs) in amyotrophic lateral sclerosis (ALS), we transplanted hNPs or growth factor (GF)-expressing hNPs into the central nervous system (CNS) of mutant Cu/Zn superoxide dismutase (SOD1(G93A)) transgenic mice.

19322031

2009

dbSNP:

rs760097344

Entrez Id:	2668;100861519
Gene Symbol:	GDNF;GDNF-AS1

GDNF;GDNF-AS1

CUI:	C0002736
Disease:

Amyotrophic Lateral Sclerosis

0.030

GeneticVariation

BEFREE

Because adeno-associated virus (AAV) has been developed as an attractive gene delivery system with proven safety, we explored the therapeutic efficacy of intramuscular delivery of the GDNF gene mediated by an AAV vector (AAV-GDNF) in the G93A mouse model of ALS.

12177190

2002