Source: CLINGEN

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1910
Gene Symbol: EDNRB
EDNRB
CUI: C1848519
Disease: WAARDENBURG SYNDROME, TYPE 4A
WAARDENBURG SYNDROME, TYPE 4A 		1.000 Biomarker CLINGEN Homozygous EDNRB mutation in a patient with Waardenburg syndrome type 1. 28502583

2018
Entrez Id: 1910
Gene Symbol: EDNRB
EDNRB
CUI: C1848519
Disease: WAARDENBURG SYNDROME, TYPE 4A
WAARDENBURG SYNDROME, TYPE 4A 		1.000 Biomarker CLINGEN EDNRB mutations cause Waardenburg syndrome type II in the heterozygous state. 28236341

2017
Entrez Id: 1910
Gene Symbol: EDNRB
EDNRB
CUI: C1848519
Disease: WAARDENBURG SYNDROME, TYPE 4A
WAARDENBURG SYNDROME, TYPE 4A 		1.000 Biomarker CLINGEN 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
CUI: C1848519
Disease: WAARDENBURG SYNDROME, TYPE 4A
WAARDENBURG SYNDROME, TYPE 4A 		1.000 Biomarker CLINGEN Impairments of endothelin receptor B (Ednrb/EDNRB) cause the development of Waardenburg-Shah syndrome with congenital hearing loss, hypopigmentation, and megacolon disease in mice and humans. 21715336

2011
Entrez Id: 1910
Gene Symbol: EDNRB
EDNRB
CUI: C1848519
Disease: WAARDENBURG SYNDROME, TYPE 4A
WAARDENBURG SYNDROME, TYPE 4A 		1.000 Biomarker CLINGEN Molecular Study of Three Lebanese and Syrian Patients with Waardenburg Syndrome and Report of Novel Mutations in the EDNRB and MITF Genes. 21373256

2011
Entrez Id: 1910
Gene Symbol: EDNRB
EDNRB
CUI: C1848519
Disease: WAARDENBURG SYNDROME, TYPE 4A
WAARDENBURG SYNDROME, TYPE 4A 		1.000 Biomarker CLINGEN We investigated a case of WS4 together with all members of her nuclear family for the alteration of the EDNRB gene by using PCR-SSCP and direct sequencing technique. 16237557

2005
Entrez Id: 1910
Gene Symbol: EDNRB
EDNRB
CUI: C1848519
Disease: WAARDENBURG SYNDROME, TYPE 4A
WAARDENBURG SYNDROME, TYPE 4A 		1.000 Biomarker CLINGEN A mouse model of Waardenburg syndrome type 4 with a new spontaneous mutation of the endothelin-B receptor gene. 11773966

2002