Source: BEFREE

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2138
Gene Symbol: EYA1
EYA1
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		0.350 Biomarker BEFREE EYA1 and GLI3 are involved in the Sonic Hedgehog transcriptional network and GLI3 seems to be involved in human foregut malformations. 29257230

2018
Entrez Id: 2138
Gene Symbol: EYA1
EYA1
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		0.350 Biomarker BEFREE Previous studies indicated that transcriptional complex SIX1/EYA1 may contribute to SHF development, and SIX1/EYA1 knockout mice exhibited a series of conotruncal malformations. 29043394

2018
Entrez Id: 2138
Gene Symbol: EYA1
EYA1
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		0.350 GeneticVariation BEFREE We demonstrate that murine mutation of both Six1 and Eya1 recapitulated most features of human del22q11 syndromes, including craniofacial, cardiac outflow tract, and aortic arch malformations. 21364285

2011
Entrez Id: 2138
Gene Symbol: EYA1
EYA1
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		0.350 AlteredExpression BEFREE Four eya1 mRNAs encoding proteins correlated with congenital anomalies in human were injected into early stage embryos. 19951260

2010
Entrez Id: 2138
Gene Symbol: EYA1
EYA1
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		0.350 Biomarker BEFREE The present, yet preliminary, observation that renal and temporal bone malformations are less frequent in SIX1-related disease suggests a slightly different clinical profile compared to EYA1-related disease. 17637804

2007