Disease: Otofaciocervical Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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 GeneticVariation disease BEFREE 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 GeneticVariation disease BEFREE One patient with OFC syndrome carried a large deletion of the EYA1 gene region, confirming that OFC syndrome is allelic with BOR syndrome. 11409867 2001
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