EDNRB, endothelin receptor type B, 1910

N. diseases: 215; N. variants: 15
Disease: ABCD syndrome ×
Source: BEFREE ×
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1838099
Disease: ABCD syndrome
ABCD syndrome 		0.610 GeneticVariation disease BEFREE Therefore, we screened DNA of the index patient of the ABCD syndrome family for mutations in the endothelin B receptor (EDNRB) gene, a gene known to be involved in Shah-Waardenburg syndrome. 11891690 2002