GDNF, glial cell derived neurotrophic factor, 2668

N. diseases: 409; N. variants: 13
Disease: HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 3 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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: C3150974
Disease: HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 3
HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 3 		0.600 Biomarker disease GENOMICS_ENGLAND De novo mutation of GDNF, ligand for the RET/GDNFR-alpha receptor complex, in Hirschsprung disease. 8968758 1996
CUI: C3150974
Disease: HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 3
HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 3 		0.600 GeneticVariation disease UNIPROT Germline mutations of the RET ligand GDNF are not sufficient to cause Hirschsprung disease. 8896569 1996
CUI: C3150974
Disease: HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 3
HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 3 		0.600 GeneticVariation disease UNIPROT De novo mutation of GDNF, ligand for the RET/GDNFR-alpha receptor complex, in Hirschsprung disease. 8968758 1996
CUI: C3150974
Disease: HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 3
HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 3 		0.600 GeneticVariation disease UNIPROT Germline mutations in glial cell line-derived neurotrophic factor (GDNF) and RET in a Hirschsprung disease patient. 8896568 1996
CUI: C3150974
Disease: HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 3
HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 3 		0.600 SusceptibilityMutation disease CLINVAR