GDNF, glial cell derived neurotrophic factor, 2668

N. diseases: 409; N. variants: 13
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		0.700 Biomarker disease BEFREE Glial cell line-derived neurotrophic factor differentially stimulates ret mutants associated with the multiple endocrine neoplasia type 2 syndromes and Hirschsprung's disease. 9681515 1998
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		0.700 GeneticVariation disease BEFREE To investigate the contribution of GDNF to the phenotype observed in this kindred, we scanned the coding region of GDNF in the patient with MEN2/HSCR, but no mutation was found. 9745455 1998
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		0.700 AlteredExpression disease BEFREE GDNF expression was studied immunohistochemically in surgical specimens from 30 HD cases (27 classic forms and 3 ultralong forms) and from 10 age-matched controls. 9473110 1998
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		0.700 GeneticVariation disease BEFREE Recent studies have shown that mutations in endothelin-B receptor (EDNRB), endothelin-3, RET, glial cell line-derived neurotrophic factor (GDNF) genes are responsible for the occurrence of congenital aganglionosis. 9721987 1998
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		0.700 Biomarker disease BEFREE Moreover, GDNF has been implicated in rare cases of HSCR. 9545641 1998
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		0.700 GeneticVariation disease 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
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		0.700 Biomarker disease BEFREE As Gdnf and Ret have been linked to the development of Hirschsprung disease (HSCR), it seems likely that Gfra1 could also be a susceptibility gene for HSCR. 9465906 1997
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		0.700 Biomarker disease CTD_human Germline mutations in glial cell line-derived neurotrophic factor (GDNF) and RET in a Hirschsprung disease patient. 8896568 1996
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		0.700 Biomarker disease MGD Defects in enteric innervation and kidney development in mice lacking GDNF. 8657307 1996
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		0.700 Biomarker disease CTD_human De novo mutation of GDNF, ligand for the RET/GDNFR-alpha receptor complex, in Hirschsprung disease. 8968758 1996
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		0.700 GeneticVariation disease BEFREE Germline mutations of the RET ligand GDNF are not sufficient to cause Hirschsprung disease. 8896569 1996
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		0.700 Biomarker disease BEFREE No haplotype sharing was evident in any of 36 HSCR kindreds typed for microsatellite markers surrounding GDNF on human chromosome 5p. 8896568 1996
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		0.700 GeneticVariation disease BEFREE Thus, our data are consistent with a causative role for GDNF mutations in some HSCR cases. 8968758 1996
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		0.700 Biomarker disease HPO
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		0.650 Biomarker disease BEFREE RET, a transmembrane receptor tyrosine kinase and a receptor for the glial cell-derived neurotrophic factor family ligands, was one of the first oncogenes to be identified, and has been shown to be an oncogene in thyroid cancer and pheochromocytoma. 22751117 2013
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		0.650 Biomarker disease BEFREE The RET-activating ligand GDNF was anti-apoptotic for mouse pheochromocytoma but not for PC12 cells. 19551609 2009
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		0.650 Biomarker disease BEFREE GDNF exerts similar effects on human pheochromocytoma cells in primary cultures. 12139916 2002
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		0.650 Biomarker disease BEFREE Expression analysis of RET and the GDNF/GFRalpha-1 and NTN/GFRalpha-2 ligand complexes in pheochromocytomas and paragangliomas. 10998441 2000
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		0.650 GeneticVariation disease BEFREE These findings suggest that although GDNF mutations do not appear to have a major role in the pathogenesis of familial or sporadic phaeochromocytomas, allelic variation at the GDNF locus may modify phaeochromocytoma susceptibility. 9215674 1997
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		0.650 Biomarker disease CTD_human These findings suggest that although GDNF mutations do not appear to have a major role in the pathogenesis of familial or sporadic phaeochromocytomas, allelic variation at the GDNF locus may modify phaeochromocytoma susceptibility. 9215674 1997
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		0.650 GeneticVariation disease UNIPROT These findings suggest that although GDNF mutations do not appear to have a major role in the pathogenesis of familial or sporadic phaeochromocytomas, allelic variation at the GDNF locus may modify phaeochromocytoma susceptibility. 9215674 1997
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		0.650 Biomarker disease HPO
CUI: C3150974
Disease: HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 3
HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 3 		0.600 Biomarker disease GENOMICS_ENGLAND Segregation at three loci explains familial and population risk in Hirschsprung disease. 11953745 2002
CUI: C3150974
Disease: HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 3
HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 3 		0.600 GeneticVariation disease UNIPROT Pathogenesis of Hirschsprung's disease. 10917288 2000
CUI: C1275808
Disease: Congenital central hypoventilation
Congenital central hypoventilation 		0.600 GeneticVariation disease UNIPROT Mutations of the RET-GDNF signaling pathway in Ondine's curse. 9497256 1998