Disease: OTOFACIOCERVICAL SYNDROME 1 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3714941
Disease: OTOFACIOCERVICAL SYNDROME 1
OTOFACIOCERVICAL SYNDROME 1 		0.420 Biomarker disease BEFREE So far, the genetic diagnosis of OTFCS has been performed only in very few cases and involves two genes, EYA1 and PAX1; thus, it is likely that other genes have still to be identified. 31379922 2019
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 GeneticVariation disease BEFREE 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 CausalMutation disease CLINVAR
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 GeneticVariation disease CLINVAR