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
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: 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: 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: 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: 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: 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: 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: 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: rs11747340
rs11747340
Entrez Id: 2668;100861519
Gene Symbol: GDNF;GDNF-AS1
GDNF;GDNF-AS1
CUI: C2985280
Disease:
Blood Protein Measurement
A 0.700 GeneticVariation GWASCAT Genome and epigenome wide studies of neurological protein biomarkers in the Lothian Birth Cohort 1936. 31320639 2019
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 An official ATS clinical policy statement: Congenital central hypoventilation syndrome: genetic basis, diagnosis, and management. 20208042 2010
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: 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: 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: 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: 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 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 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 of the RET ligand GDNF are not sufficient to cause Hirschsprung disease. 8896569 1996
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 Intraspinal administration of human spinal cord-derived neural progenitor cells in the G93A-SOD1 mouse model of ALS delays symptom progression, prolongs survival and increases expression of endogenous neurotrophic factors. 25641599 2017
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 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