Source: CURATED ×
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1865143
Disease: BRANCHIOOTIC SYNDROME 1
BRANCHIOOTIC SYNDROME 1 		0.710 Biomarker disease GENOMICS_ENGLAND
CUI: C1865143
Disease: BRANCHIOOTIC SYNDROME 1
BRANCHIOOTIC SYNDROME 1 		0.710 Biomarker disease CTD_human
CUI: C1865143
Disease: BRANCHIOOTIC SYNDROME 1
BRANCHIOOTIC SYNDROME 1 		0.710 Biomarker disease GENOMICS_ENGLAND
CUI: C1865143
Disease: BRANCHIOOTIC SYNDROME 1
BRANCHIOOTIC 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
CUI: C4551702
Disease: Branchiootorenal Syndrome 1
Branchiootorenal Syndrome 1 		0.710 Biomarker disease GENOMICS_ENGLAND
CUI: C1833691
Disease: Otofaciocervical Syndrome
Otofaciocervical Syndrome 		0.620 Biomarker disease CTD_human
CUI: C4273131
Disease: Branchiootic syndrome
Branchiootic syndrome 		0.540 Biomarker disease CTD_human
CUI: C3714941
Disease: OTOFACIOCERVICAL SYNDROME 1
OTOFACIOCERVICAL SYNDROME 1 		0.420 Biomarker disease GENOMICS_ENGLAND
CUI: C3714941
Disease: OTOFACIOCERVICAL SYNDROME 1
OTOFACIOCERVICAL SYNDROME 1 		0.420 Biomarker disease GENOMICS_ENGLAND
CUI: C0018777
Disease: Conductive hearing loss
Conductive hearing loss 		0.410 Biomarker disease CTD_human Eya1 heterozygotes show renal abnormalities and a conductive hearing loss similar to BOR syndrome, whereas Eya1 homozygotes lack ears and kidneys due to defective inductive tissue interactions and apoptotic regression of the organ primordia. 10471511 1999
CUI: C0265234
Disease: Branchio-Oto-Renal Syndrome
Branchio-Oto-Renal Syndrome 		0.800 Biomarker disease CLINGEN EYA1 mutations associated with the branchio-oto-renal syndrome result in defective otic development in Xenopus laevis. 19951260 2010
CUI: C0265234
Disease: Branchio-Oto-Renal Syndrome
Branchio-Oto-Renal Syndrome 		0.800 Biomarker disease CLINGEN A recurrent EYA1 mutation causing alternative RNA splicing in branchio-oto-renal syndrome: implications for molecular diagnostics and disease mechanism. 19206155 2009
CUI: C1865143
Disease: BRANCHIOOTIC SYNDROME 1
BRANCHIOOTIC SYNDROME 1 		0.710 GeneticVariation disease UNIPROT BOR and BO syndromes are allelic defects of EYA1. 9359046 1998
CUI: C1865143
Disease: BRANCHIOOTIC SYNDROME 1
BRANCHIOOTIC SYNDROME 1 		0.710 GermlineCausalMutation disease ORPHANET BOR and BO syndromes are allelic defects of EYA1. 9359046 1998
CUI: C4273131
Disease: Branchiootic syndrome
Branchiootic syndrome 		0.540 GermlineCausalMutation disease ORPHANET BOR and BO syndromes are allelic defects of EYA1. 9359046 1998
CUI: C3551443
Disease: ANTERIOR SEGMENT ANOMALIES WITH OR WITHOUT CATARACT
ANTERIOR SEGMENT ANOMALIES WITH OR WITHOUT CATARACT 		0.300 GermlineCausalMutation disease ORPHANET BOR and BO syndromes are allelic defects of EYA1. 9359046 1998
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: C3714941
Disease: OTOFACIOCERVICAL SYNDROME 1
OTOFACIOCERVICAL SYNDROME 1 		0.420 Biomarker disease GENOMICS_ENGLAND By contrast, we show here that an OFC patient bears a single-nucleotide substitution in a splice site of EYA1. 16441263 2006
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: C0265234
Disease: Branchio-Oto-Renal Syndrome
Branchio-Oto-Renal Syndrome 		0.800 Biomarker disease CLINGEN Eya protein phosphatase activity regulates Six1-Dach-Eya transcriptional effects in mammalian organogenesis. 14628042 2003
CUI: C0018798
Disease: Congenital Heart Defects
Congenital Heart Defects 		0.300 Biomarker group CTD_human EYA1 mutation in a newborn female presenting with cardiofacial syndrome. 15493068 2005
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		0.350 Biomarker group CTD_human Eya1-deficient mice lack ears and kidneys and show abnormal apoptosis of organ primordia. 10471511 1999
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