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 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 GermlineCausalMutation disease ORPHANET Our results indicate that not only major rearrangements, but also point mutations altering the EYA1 reading frame, can be found in patients with OFC syndrome. 16441263 2006
CUI: C1833691
Disease: Otofaciocervical Syndrome
Otofaciocervical Syndrome 		0.620 Biomarker disease GENOMICS_ENGLAND Identification of three novel mutations in human EYA1 protein associated with branchio-oto-renal syndrome. 9603436 1998
CUI: C1833691
Disease: Otofaciocervical Syndrome
Otofaciocervical Syndrome 		0.620 Biomarker disease CTD_human
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 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
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: C3714941
Disease: OTOFACIOCERVICAL SYNDROME 1
OTOFACIOCERVICAL SYNDROME 1 		0.420 Biomarker disease GENOMICS_ENGLAND Identification of three novel mutations in human EYA1 protein associated with branchio-oto-renal syndrome. 9603436 1998
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: C0152423
Disease: Congenital small ears
Congenital small ears 		0.400 Biomarker disease GENOMICS_ENGLAND Identification of three novel mutations in human EYA1 protein associated with branchio-oto-renal syndrome. 9603436 1998
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.400 Biomarker phenotype GENOMICS_ENGLAND Identification of three novel mutations in human EYA1 protein associated with branchio-oto-renal syndrome. 9603436 1998
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: C0431406
Disease: Asymmetric crying face association
Asymmetric crying face association 		0.310 Biomarker disease CTD_human We conclude that EYA1 mutation represents a previously undescribed cause of cardiofacial syndrome. 15493068 2005
CUI: C0376524
Disease: Branchio-Oculo-Facial Syndrome
Branchio-Oculo-Facial Syndrome 		0.310 Biomarker disease CTD_human Thymus, kidney and craniofacial abnormalities in Six 1 deficient mice. 12834866 2003
CUI: C0376634
Disease: Craniofacial Abnormalities
Craniofacial Abnormalities 		0.310 Biomarker group CTD_human Haploinsufficiency for human EYA1, a homologue of the Drosophila melanogaster gene eyes absent (eya), results in the dominantly inherited disorders branchio-oto-renal (BOR) syndrome and branchio-oto (BO) syndrome, which are characterized by craniofacial abnormalities and hearing loss with (BOR) or without (BO) kidney defects. 10471511 1999
CUI: C3551443
Disease: ANTERIOR SEGMENT ANOMALIES WITH OR WITHOUT CATARACT
ANTERIOR SEGMENT ANOMALIES WITH OR WITHOUT CATARACT 		0.300 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: 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: C1970479
Disease: Branchiootorenal Syndrome 2
Branchiootorenal Syndrome 2 		0.300 Biomarker disease CTD_human Thymus, kidney and craniofacial abnormalities in Six 1 deficient mice. 12834866 2003