Disease: Branchiootorenal Syndrome 1 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4551702
Disease: Branchiootorenal Syndrome 1
Branchiootorenal Syndrome 1 		0.710 GeneticVariation disease BEFREE A total of three rare missense mutations were detected, including heterozygous c.244G>A in LMNA, c.546C>G in potassium voltage‑gated channel subfamily KQT (KCNQ4) and c.1276G>A in EYA transcriptional coactivator and phosphatase 1 (EYA1), indicating a glutamic acid to lysine substitution at amino acid 82 (p.E82K) in LMNA, a p.F182L in KCNQ4 (a mutation associated with pathogenic deafness) and p.G426S in EYA1 (associated with Branchiootorenal syndrome 1 and Branchiootic syndrome 1 pathogenesis). 30221713 2018
CUI: C4551702
Disease: Branchiootorenal Syndrome 1
Branchiootorenal Syndrome 1 		0.710 CausalMutation disease CLINVAR Whole-exome sequencing in the molecular diagnosis of individuals with congenital anomalies of the kidney and urinary tract and identification of a new causative gene. 27657687 2017
CUI: C4551702
Disease: Branchiootorenal Syndrome 1
Branchiootorenal Syndrome 1 		0.710 CausalMutation disease CLINVAR A clinically driven variant prioritization framework outperforms purely computational approaches for the diagnostic analysis of singleton WES data. 28832562 2017
CUI: C4551702
Disease: Branchiootorenal Syndrome 1
Branchiootorenal Syndrome 1 		0.710 CausalMutation disease CLINVAR Comprehensive genetic testing in the clinical evaluation of 1119 patients with hearing loss. 26969326 2016
CUI: C4551702
Disease: Branchiootorenal Syndrome 1
Branchiootorenal Syndrome 1 		0.710 CausalMutation disease CLINVAR BOR-syndrome-associated Eya1 mutations lead to enhanced proteasomal degradation of Eya1 protein. 24489909 2014
CUI: C4551702
Disease: Branchiootorenal Syndrome 1
Branchiootorenal Syndrome 1 		0.710 CausalMutation disease CLINVAR Mutation screening of the EYA1, SIX1, and SIX5 genes in a large cohort of patients harboring branchio-oto-renal syndrome calls into question the pathogenic role of SIX5 mutations. 21280147 2011
CUI: C4551702
Disease: Branchiootorenal Syndrome 1
Branchiootorenal Syndrome 1 		0.710 GeneticVariation disease UNIPROT Mutation screening of the EYA1, SIX1, and SIX5 genes in a large cohort of patients harboring branchio-oto-renal syndrome calls into question the pathogenic role of SIX5 mutations. 21280147 2011
CUI: C4551702
Disease: Branchiootorenal Syndrome 1
Branchiootorenal Syndrome 1 		0.710 CausalMutation disease CLINVAR EYA1 mutations associated with the branchio-oto-renal syndrome result in defective otic development in Xenopus laevis. 19951260 2010
CUI: C4551702
Disease: Branchiootorenal Syndrome 1
Branchiootorenal Syndrome 1 		0.710 CausalMutation disease CLINVAR Branchio-oto-renal syndrome (BOR): novel mutations in the EYA1 gene, and a review of the mutational genetics of BOR. 18220287 2008
CUI: C4551702
Disease: Branchiootorenal Syndrome 1
Branchiootorenal Syndrome 1 		0.710 CausalMutation disease CLINVAR Stickler and branchio-oto-renal syndromes in a patient with mutations in EYA1 and COL2A1 genes. 18177466 2008
CUI: C4551702
Disease: Branchiootorenal Syndrome 1
Branchiootorenal Syndrome 1 		0.710 Biomarker disease GENOMICS_ENGLAND Point mutation of an EYA1-gene splice site in a patient with oto-facio-cervical syndrome. 16441263 2006
CUI: C4551702
Disease: Branchiootorenal Syndrome 1
Branchiootorenal Syndrome 1 		0.710 CausalMutation disease CLINVAR Identification of a novel EYA1 mutation presenting in a newborn with laryngomalacia, glossoptosis, retrognathia, and pectus excavatum. 16691597 2006
CUI: C4551702
Disease: Branchiootorenal Syndrome 1
Branchiootorenal Syndrome 1 		0.710 CausalMutation disease CLINVAR Branchio-oto-renal syndrome: the mutation spectrum in EYA1 and its phenotypic consequences. 15146463 2004
CUI: C4551702
Disease: Branchiootorenal Syndrome 1
Branchiootorenal Syndrome 1 		0.710 Biomarker disease CTD_human Thymus, kidney and craniofacial abnormalities in Six 1 deficient mice. 12834866 2003
CUI: C4551702
Disease: Branchiootorenal Syndrome 1
Branchiootorenal Syndrome 1 		0.710 GeneticVariation disease UNIPROT Genetic features of hearing loss associated with ear anomalies: PDS and EYA1 mutation analysis. 11558900 2001
CUI: C4551702
Disease: Branchiootorenal Syndrome 1
Branchiootorenal Syndrome 1 		0.710 GeneticVariation disease UNIPROT Mutations of a human homologue of the Drosophila eyes absent gene (EYA1) detected in patients with congenital cataracts and ocular anterior segment anomalies. 10655545 2000
CUI: C4551702
Disease: Branchiootorenal Syndrome 1
Branchiootorenal Syndrome 1 		0.710 CausalMutation disease CLINVAR Importance of clinical evaluation and molecular testing in the branchio-oto-renal (BOR) syndrome and overlapping phenotypes. 10991693 2000
CUI: C4551702
Disease: Branchiootorenal Syndrome 1
Branchiootorenal Syndrome 1 		0.710 GeneticVariation disease UNIPROT Importance of clinical evaluation and molecular testing in the branchio-oto-renal (BOR) syndrome and overlapping phenotypes. 10991693 2000
CUI: C4551702
Disease: Branchiootorenal Syndrome 1
Branchiootorenal Syndrome 1 		0.710 CausalMutation disease CLINVAR Branchio-oto-renal syndrome: identification of novel mutations, molecular characterization, mutation distribution, and prospects for genetic testing. 10464653 1999
CUI: C4551702
Disease: Branchiootorenal Syndrome 1
Branchiootorenal Syndrome 1 		0.710 GeneticVariation disease UNIPROT Branchio-oto-renal syndrome: identification of novel mutations, molecular characterization, mutation distribution, and prospects for genetic testing. 10464653 1999
CUI: C4551702
Disease: Branchiootorenal Syndrome 1
Branchiootorenal Syndrome 1 		0.710 Biomarker disease GENOMICS_ENGLAND Identification of three novel mutations in human EYA1 protein associated with branchio-oto-renal syndrome. 9603436 1998
CUI: C4551702
Disease: Branchiootorenal Syndrome 1
Branchiootorenal Syndrome 1 		0.710 GeneticVariation disease UNIPROT Clustering of mutations responsible for branchio-oto-renal (BOR) syndrome in the eyes absent homologous region (eyaHR) of EYA1. 9361030 1997
CUI: C4551702
Disease: Branchiootorenal Syndrome 1
Branchiootorenal Syndrome 1 		0.710 Biomarker disease GENOMICS_ENGLAND
CUI: C4551702
Disease: Branchiootorenal Syndrome 1
Branchiootorenal Syndrome 1 		0.710 Biomarker disease GENOMICS_ENGLAND
CUI: C4551702
Disease: Branchiootorenal Syndrome 1
Branchiootorenal Syndrome 1 		0.710 Biomarker disease GENOMICS_ENGLAND