GDNF, glial cell derived neurotrophic factor, 2668

N. diseases: 409; N. variants: 13
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104893891
rs104893891
Entrez Id: 2668;100861519
Gene Symbol: GDNF;GDNF-AS1
GDNF;GDNF-AS1
CUI: C3150974
Disease:
HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 3
A 0.800 SusceptibilityMutation CLINVAR
dbSNP: rs121918536
rs121918536
Entrez Id: 2668;100861519
Gene Symbol: GDNF;GDNF-AS1
GDNF;GDNF-AS1
CUI: C3150974
Disease:
HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 3
C 0.800 SusceptibilityMutation CLINVAR
dbSNP: rs104893891
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: rs121918536
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: rs36119840
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: rs777451569
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: rs104893891
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: rs121918536
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: rs36119840
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: rs777451569
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: rs104893891
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: rs121918536
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
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: rs777451569
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: rs36119840
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
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: rs36119840
rs36119840
Entrez Id: 2668;100861519
Gene Symbol: GDNF;GDNF-AS1
GDNF;GDNF-AS1
CUI: C1611743
Disease:
Familial (FPAH)
0.010 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
rs36119840
Entrez Id: 2668;100861519
Gene Symbol: GDNF;GDNF-AS1
GDNF;GDNF-AS1
CUI: C0019569
Disease:
Hirschsprung Disease
0.010 GeneticVariation BEFREE GDNF sequence variants including R93W have been suggested previously to represent low penetrance susceptibility mutations for Hirschsprung disease and the R93W was not identified in 376 control alleles studied by others. 9215674 1997
dbSNP: rs36119840
rs36119840
Entrez Id: 2668;100861519
Gene Symbol: GDNF;GDNF-AS1
GDNF;GDNF-AS1
CUI: C4551683
Disease:
Adrenal Gland Pheochromocytoma
0.010 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
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: rs104893891
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: rs121918536
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: rs36119840
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: rs777451569
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: rs760097344
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