rs121918536
|
GDNF;GDNF-AS1
|
HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 3
|
C |
0.800 |
SusceptibilityMutation |
CLINVAR |
|
|
|
rs104893891
|
GDNF;GDNF-AS1
|
HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 3
|
A |
0.800 |
SusceptibilityMutation |
CLINVAR |
|
|
|
rs11747340
|
GDNF;GDNF-AS1
|
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 |
rs104893891
|
GDNF;GDNF-AS1
|
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 |
rs104893891
|
GDNF;GDNF-AS1
|
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 |
rs104893891
|
GDNF;GDNF-AS1
|
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 |
rs104893891
|
GDNF;GDNF-AS1
|
HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 3
|
|
0.800 |
GeneticVariation |
UNIPROT |
Pathogenesis of Hirschsprung's disease.
|
10917288 |
2000 |
rs121918536
|
GDNF;GDNF-AS1
|
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 |
rs121918536
|
GDNF;GDNF-AS1
|
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 |
rs121918536
|
GDNF;GDNF-AS1
|
HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 3
|
|
0.800 |
GeneticVariation |
UNIPROT |
Pathogenesis of Hirschsprung's disease.
|
10917288 |
2000 |
rs121918536
|
GDNF;GDNF-AS1
|
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 |
rs36119840
|
GDNF;GDNF-AS1
|
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 |
rs36119840
|
GDNF;GDNF-AS1
|
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 |
rs36119840
|
GDNF;GDNF-AS1
|
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 |
rs36119840
|
GDNF;GDNF-AS1
|
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 |
rs36119840
|
GDNF;GDNF-AS1
|
Congenital central hypoventilation
|
|
0.700 |
GeneticVariation |
UNIPROT |
An official ATS clinical policy statement: Congenital central hypoventilation syndrome: genetic basis, diagnosis, and management.
|
20208042 |
2010 |
rs36119840
|
GDNF;GDNF-AS1
|
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 |
rs36119840
|
GDNF;GDNF-AS1
|
HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 3
|
|
0.700 |
GeneticVariation |
UNIPROT |
Pathogenesis of Hirschsprung's disease.
|
10917288 |
2000 |
rs36119840
|
GDNF;GDNF-AS1
|
Congenital central hypoventilation
|
|
0.700 |
GeneticVariation |
UNIPROT |
Mutations of the RET-GDNF signaling pathway in Ondine's curse.
|
9497256 |
1998 |
rs4574573
|
GDNF-AS1;LINC02117
|
Serum total cholesterol measurement
|
|
0.700 |
GeneticVariation |
GWASCAT |
Very low-depth whole-genome sequencing in complex trait association studies.
|
30576415 |
2019 |
rs777451569
|
GDNF;GDNF-AS1
|
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 |
rs777451569
|
GDNF;GDNF-AS1
|
HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 3
|
|
0.700 |
GeneticVariation |
UNIPROT |
Pathogenesis of Hirschsprung's disease.
|
10917288 |
2000 |
rs777451569
|
GDNF;GDNF-AS1
|
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 |
rs777451569
|
GDNF;GDNF-AS1
|
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 |
rs760097344
|
GDNF;GDNF-AS1
|
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 |