EDNRB, endothelin receptor type B, 1910

N. diseases: 300; N. variants: 25
Disease: HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 2 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1838564
Disease: HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 2
HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 2 		0.600 GeneticVariation disease UNIPROT EDNRB mutations cause Waardenburg syndrome type II in the heterozygous state. 28236341 2017
CUI: C1838564
Disease: HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 2
HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 2 		0.600 Biomarker disease GENOMICS_ENGLAND A novel mutation in the endothelin B receptor gene in a moroccan family with shah-waardenburg syndrome. 25852447 2015
CUI: C1838564
Disease: HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 2
HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 2 		0.600 GeneticVariation disease UNIPROT Functional characterization of three mutations of the endothelin B receptor gene in patients with Hirschsprung's disease: evidence for selective loss of Gi coupling. 11471546 2001
CUI: C1838564
Disease: HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 2
HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 2 		0.600 Biomarker disease GENOMICS_ENGLAND Phenotypic variation in a family with mutations in two Hirschsprung-related genes (RET and endothelin receptor B). 9760196 1998
CUI: C1838564
Disease: HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 2
HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 2 		0.600 GeneticVariation disease UNIPROT Heterozygous endothelin receptor B (EDNRB) mutations in isolated Hirschsprung disease. 8852660 1996
CUI: C1838564
Disease: HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 2
HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 2 		0.600 GeneticVariation disease UNIPROT A homozygous mutation in the endothelin-3 gene associated with a combined Waardenburg type 2 and Hirschsprung phenotype (Shah-Waardenburg syndrome). 8630503 1996
CUI: C1838564
Disease: HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 2
HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 2 		0.600 GeneticVariation disease UNIPROT A missense mutation of the endothelin-B receptor gene in multigenic Hirschsprung's disease. 8001158 1994
CUI: C1838564
Disease: HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 2
HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 2 		0.600 SusceptibilityMutation disease CLINVAR