EDNRB, endothelin receptor type B, 1910

N. diseases: 215; N. variants: 15
Source: BEFREE ×
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1848519
Disease: WAARDENBURG SYNDROME, TYPE 4A
WAARDENBURG SYNDROME, TYPE 4A 		1.000 GeneticVariation disease BEFREE There are three types of WS4 (WS4A-C) caused by mutations in endothelin receptor type B, endothelin 3, and SRY-box 10 (SOX10), respectively. 28128317 2017
CUI: C1848519
Disease: WAARDENBURG SYNDROME, TYPE 4A
WAARDENBURG SYNDROME, TYPE 4A 		1.000 GeneticVariation disease BEFREE In condition, molecular level analysis was efficient to identify the causative variant p.V4907D in GPR98 and p.V185M in EDNRB, also was helpful to confirm the clinical diagnosis of USH2 and WS4. 29106856 2017
CUI: C1848519
Disease: WAARDENBURG SYNDROME, TYPE 4A
WAARDENBURG SYNDROME, TYPE 4A 		1.000 GeneticVariation disease BEFREE Mutations of the EDNRB gene, EDN3 gene, or SOX10 gene are responsible for WS4. 24440785 2014
CUI: C1848519
Disease: WAARDENBURG SYNDROME, TYPE 4A
WAARDENBURG SYNDROME, TYPE 4A 		1.000 Biomarker disease BEFREE Three disease-causing genes have been identified so far for WS4: EDNRB, EDN3, and SOX10. 24311220 2014
CUI: C1848519
Disease: WAARDENBURG SYNDROME, TYPE 4A
WAARDENBURG SYNDROME, TYPE 4A 		1.000 GeneticVariation disease BEFREE In this study, we have identified 3 novel mutations in EDNRB gene associated with WS4 in Pakistani patients. 21547364 2012
CUI: C1848519
Disease: WAARDENBURG SYNDROME, TYPE 4A
WAARDENBURG SYNDROME, TYPE 4A 		1.000 GeneticVariation disease BEFREE 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
CUI: C1848519
Disease: WAARDENBURG SYNDROME, TYPE 4A
WAARDENBURG SYNDROME, TYPE 4A 		1.000 GeneticVariation disease BEFREE In addition, the EDNRB, EDN3 and SOX10 genes were sequenced in order to identify the pathogenic mutation responsible for the WS4 observed in these patients. 21531202 2011
CUI: C1848519
Disease: WAARDENBURG SYNDROME, TYPE 4A
WAARDENBURG SYNDROME, TYPE 4A 		1.000 GeneticVariation disease BEFREE 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
CUI: C1848519
Disease: WAARDENBURG SYNDROME, TYPE 4A
WAARDENBURG SYNDROME, TYPE 4A 		1.000 Biomarker 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
CUI: C1848519
Disease: WAARDENBURG SYNDROME, TYPE 4A
WAARDENBURG SYNDROME, TYPE 4A 		1.000 GeneticVariation disease BEFREE The WS-HSCR association (Shah-Waardenburg syndrome) is a rare autosomal recessive condition that occasionally has been ascribed to mutations of the endothelin-receptor B (EDNRB) gene. 8630502 1996
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		0.700 GeneticVariation disease BEFREE Hirschsprung disease (HSCR), a multifactorial disorder of enteric nervous system (ENS) development, is associated with at least 24 genes and seven chromosomal loci, with RET and EDNRB as its major genes. 31313802 2019
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		0.700 AlteredExpression disease BEFREE The increased expression of EDNRB induced by decreased Gli1 expression may represent a novel mechanism in HSCR. 29484400 2018
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		0.700 GeneticVariation disease BEFREE Our findings suggested that autosomal recessive mutation in EDNRB may underlie a part of WS1 with the current diagnostic criteria, and supported that Hirschsprung's disease is a multifactorial genetic disease which requires additional factors. 28502583 2018
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		0.700 GeneticVariation disease BEFREE In the present study, we demonstrated that SEMA3A expression is increased in the EDNRB-/- HD model on P2, suggesting that SEMA3A may interfere with ENCC migration, resulting in an absence of enteric neurons. 29224790 2018
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		0.700 AlteredExpression disease BEFREE The clinical association between Trisomy 21 (Down syndrome) and aganglionosis (Hirschsprung disease; DS-HSCR) is well-established, being of the order of 5% and remains the most common congenital association with Hirschsprung disease. 30218169 2018
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		0.700 GeneticVariation disease BEFREE Future studies investigating the disease-associated mutations in the already identified HSCR genes should provide insights into the genetic basis of HSCR in twins. 28601901 2017
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		0.700 GeneticVariation disease BEFREE Interestingly, homozygous (and very rare heterozygous) EDNRB mutations are already described in type IV WS (i.e., in association with Hirschsprung disease [HD]) and heterozygous mutations in isolated HD. 28236341 2017
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		0.700 Biomarker disease BEFREE HSCR (aganglionic megacolon) is a frequent diagnostic and clinical challenge in perinatology and pediatric surgery, and a major cause of neonatal intestinal obstruction. 27682968 2017
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		0.700 Biomarker disease BEFREE We sequenced RET and EDNRB in 57 HSCR patients. 26395553 2016
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		0.700 GeneticVariation disease BEFREE Transmission of S-HSCR was observed in 13 (31%), which was associated with EDNRB variation. 25638620 2015
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		0.700 GeneticVariation disease BEFREE We report a novel non-sense EDNRB gene mutation in a girl with HSCR and her mother and grandmother with HSCR and MS. We propose that this EDNRB gene mutation plays a role in the etiology of HSCR and also makes the subjects susceptible to MS. 24726125 2014
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		0.700 Biomarker disease BEFREE To explore a potential methodology for treating aganglionic megacolon, neural stem cells (NSCs) expressing engineered endothelin receptor type B (EDNRB) and glial cell-derived neurotrophic factor (GDNF) genes were transplanted into the aganglionic megacolon mice. 23512482 2013
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		0.700 PosttranslationalModification disease BEFREE Our study demonstrates that epigenetic inactivation of the EDNRB gene may play a role in the development of HSCR. 23579558 2013
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		0.700 GeneticVariation disease BEFREE Hirschsprung disease (HSCR) genetics is a paradigm for the study and understanding of multigenic disorders. 23671607 2013
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		0.700 GeneticVariation disease BEFREE Here, we present the extension of a previous study of a Spanish series of HSCR trios to an international cohort of 162 HSCR trios to validate the generality of the underlying functional basis of the Hirschsprung's disease mechanisms previously found. 24289864 2013