Source: CLINVAR

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 1910
Gene Symbol: EDNRB
EDNRB 		endothelin receptor type B 0.470 0.846 9.2E-03
CUI: C1848519
Disease: WAARDENBURG SYNDROME, TYPE 4A
WAARDENBURG SYNDROME, TYPE 4A 		disease 1.000 moderate 1.000 0 7 1994 2018
Entrez Id: 1910
Gene Symbol: EDNRB
EDNRB 		endothelin receptor type B 0.470 0.846 9.2E-03
CUI: C0085758
Disease: Aganglionosis, Colonic
Aganglionosis, Colonic 		disease 0.650 strong 1.000 0 2 1996 2015
Entrez Id: 1910
Gene Symbol: EDNRB
EDNRB 		endothelin receptor type B 0.470 0.846 9.2E-03
CUI: C1838099
Disease: ABCD syndrome
ABCD syndrome 		disease 0.610 None 1.000 0 1 1995 2015
Entrez Id: 1910
Gene Symbol: EDNRB
EDNRB 		endothelin receptor type B 0.470 0.846 9.2E-03
CUI: C1838564
Disease: HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 2
HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 2 		disease 0.600 strong 1.000 0 5 1994 2017
Entrez Id: 1910
Gene Symbol: EDNRB
EDNRB 		endothelin receptor type B 0.470 0.846 9.2E-03
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		disease 0.300 None 1.000 0 2 2011 2011
Entrez Id: 1910
Gene Symbol: EDNRB
EDNRB 		endothelin receptor type B 0.470 0.846 9.2E-03
CUI: C0345240
Disease: Total intestinal aganglionosis
Total intestinal aganglionosis 		disease 0.300 None 1.000 0 2 2011 2011
Entrez Id: 1910
Gene Symbol: EDNRB
EDNRB 		endothelin receptor type B 0.470 0.846 9.2E-03
CUI: C1384666
Disease: hearing impairment
hearing impairment 		phenotype 0.100 None 0 3
Entrez Id: 1910
Gene Symbol: EDNRB
EDNRB 		endothelin receptor type B 0.470 0.846 9.2E-03
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		phenotype 0.100 None 0 1
Entrez Id: 1910
Gene Symbol: EDNRB
EDNRB 		endothelin receptor type B 0.470 0.846 9.2E-03
CUI: C0423318
Disease: Heterochromia iridis
Heterochromia iridis 		phenotype 0.100 None 0 1
Entrez Id: 1910
Gene Symbol: EDNRB
EDNRB 		endothelin receptor type B 0.470 0.846 9.2E-03
CUI: C0267373
Disease: Intestinal hemorrhage NOS
Intestinal hemorrhage NOS 		phenotype 0.100 None 0 2
Entrez Id: 1910
Gene Symbol: EDNRB
EDNRB 		endothelin receptor type B 0.470 0.846 9.2E-03
CUI: C0162429
Disease: Malnutrition
Malnutrition 		disease 0.100 None 0 2
Entrez Id: 1910
Gene Symbol: EDNRB
EDNRB 		endothelin receptor type B 0.470 0.846 9.2E-03
CUI: C0162316
Disease: Iron deficiency anemia
Iron deficiency anemia 		disease 0.100 None 0 2
Entrez Id: 1910
Gene Symbol: EDNRB
EDNRB 		endothelin receptor type B 0.470 0.846 9.2E-03
CUI: C4023346
Disease: Aganglionosis of the small intestine
Aganglionosis of the small intestine 		phenotype 0.100 None 0 2