Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 2
CUI: C1838564
Disease: HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 2
0.800 GeneticVariation UNIPROT EDNRB mutations cause Waardenburg syndrome type II in the heterozygous state. 28236341 2017
HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 2
CUI: C1838564
Disease: HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 2
0.800 GeneticVariation 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
HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 2
CUI: C1838564
Disease: HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 2
0.800 GeneticVariation UNIPROT Heterozygous endothelin receptor B (EDNRB) mutations in isolated Hirschsprung disease. 8852660 1996
HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 2
CUI: C1838564
Disease: HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 2
0.800 GeneticVariation UNIPROT A homozygous mutation in the endothelin-3 gene associated with a combined Waardenburg type 2 and Hirschsprung phenotype (Shah-Waardenburg syndrome). 8630503 1996
HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 2
CUI: C1838564
Disease: HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 2
0.800 GeneticVariation UNIPROT A missense mutation of the endothelin-B receptor gene in multigenic Hirschsprung's disease. 8001158 1994
HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 2
CUI: C1838564
Disease: HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 2
0.800 SusceptibilityMutation CLINVAR
WAARDENBURG SYNDROME, TYPE 4A
CUI: C1848519
Disease: WAARDENBURG SYNDROME, TYPE 4A
0.700 CausalMutation CLINVAR
Hirschsprung Disease
CUI: C0019569
Disease: Hirschsprung Disease
0.010 GeneticVariation BEFREE The mutation is dosage sensitive, in that W276C homozygotes and heterozygotes have a 74% and a 21% risk, respectively, of developing HSCR. 8001158 1994