Disease: Branchiootic syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4273131
Disease: Branchiootic syndrome
Branchiootic syndrome 		0.540 GeneticVariation disease BEFREE Whole exome sequencing identifies a mutation in EYA1 and GLI3 in a patient with branchio‑otic syndrome and esophageal atresia: Coincidence or a digenic mode of inheritance? 29257230 2018
CUI: C4273131
Disease: Branchiootic syndrome
Branchiootic syndrome 		0.540 GeneticVariation disease BEFREE Novel partial duplication of EYA1 causes branchiootic syndrome in a large Brazilian family. 25926005 2015
CUI: C4273131
Disease: Branchiootic syndrome
Branchiootic syndrome 		0.540 Biomarker disease BEFREE Diagnostic criteria indicated that the two patients were affected by BOS1 (Branchio-Otic Syndrome 1). 24803398 2014
CUI: C4273131
Disease: Branchiootic syndrome
Branchiootic syndrome 		0.540 GermlineCausalMutation disease ORPHANET Mutational analysis of EYA1, SIX1 and SIX5 genes and strategies for management of hearing loss in patients with BOR/BO syndrome. 23840632 2013
CUI: C4273131
Disease: Branchiootic syndrome
Branchiootic syndrome 		0.540 GeneticVariation disease BEFREE A novel nonsense mutation in the EYA1 gene associated with branchio-oto-renal/branchiootic syndrome in an Afrikaner kindred. 16813606 2006
CUI: C4273131
Disease: Branchiootic syndrome
Branchiootic syndrome 		0.540 GermlineCausalMutation disease ORPHANET BOR and BO syndromes are allelic defects of EYA1. 9359046 1998
CUI: C4273131
Disease: Branchiootic syndrome
Branchiootic syndrome 		0.540 Biomarker disease CTD_human