Gene: EDNRB ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1910
Gene Symbol: EDNRB
EDNRB 		0.650 Biomarker disease BEFREE EdnrB was deleted from the neural crest (EdnrBNCC-/-) resulting in mutants with defective NCC migration, distal colonic aganglionosis and the development of enterocolitis. 26061883 2015
Entrez Id: 1910
Gene Symbol: EDNRB
EDNRB 		0.650 Biomarker disease GENOMICS_ENGLAND A novel mutation in the endothelin B receptor gene in a moroccan family with shah-waardenburg syndrome. 25852447 2015
Entrez Id: 1910
Gene Symbol: EDNRB
EDNRB 		0.650 GeneticVariation disease BEFREE Cumulative effects of the RET and EDNRB genes contribute to long-segment and total colonic aganglionosis. 25638620 2015
Entrez Id: 1910
Gene Symbol: EDNRB
EDNRB 		0.650 GeneticVariation disease BEFREE In contrast to S-HSCR, genetic variations in TCA aggregated to the important tyrosine kinase (intracellular) region in 5 patients suggesting a possible pathogenetic link. 19853744 2009
Entrez Id: 1910
Gene Symbol: EDNRB
EDNRB 		0.650 Biomarker disease BEFREE To study the development of colonic aganglionosis we have utilized a novel knockout mouse (Ednrb(flex3/flex3)), in which the expression of a null Ednrb allele and YFP is confined to NCCs. 19700623 2009
Entrez Id: 1910
Gene Symbol: EDNRB
EDNRB 		0.650 GeneticVariation disease BEFREE Four types of WS have been classified to date; in WS type IV (WS4), patients additionally have colonic aganglionosis (Hirschsprung disease, HSCR). 10528251 1999
Entrez Id: 1910
Gene Symbol: EDNRB
EDNRB 		0.650 Biomarker disease CTD_human Germline mutations in glial cell line-derived neurotrophic factor (GDNF) and RET in a Hirschsprung disease patient. 8896568 1996
Entrez Id: 1910
Gene Symbol: EDNRB
EDNRB 		0.650 GeneticVariation disease CLINVAR