rs104893891
|
GDNF;GDNF-AS1
|
HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 3
|
A |
0.800 |
SusceptibilityMutation |
CLINVAR |
|
|
|
rs121918536
|
GDNF;GDNF-AS1
|
HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 3
|
C |
0.800 |
SusceptibilityMutation |
CLINVAR |
|
|
|
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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
|
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 |
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
|
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 |
rs36119840
|
GDNF;GDNF-AS1
|
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 |
rs36119840
|
GDNF;GDNF-AS1
|
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 |
rs36119840
|
GDNF;GDNF-AS1
|
Congenital central hypoventilation
|
|
0.700 |
GeneticVariation |
UNIPROT |
Mutations of the RET-GDNF signaling pathway in Ondine's curse.
|
9497256 |
1998 |
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 |
Pathogenesis of Hirschsprung's disease.
|
10917288 |
2000 |
rs36119840
|
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 |
Pathogenesis of Hirschsprung's disease.
|
10917288 |
2000 |
rs760097344
|
GDNF;GDNF-AS1
|
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 |