Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2138
Gene Symbol: EYA1
EYA1
0.350 Biomarker group 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
0.350 Biomarker group 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
0.350 GeneticVariation group 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
0.350 AlteredExpression group 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
0.350 Biomarker group 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
Entrez Id: 2138
Gene Symbol: EYA1
EYA1
0.350 Biomarker group CTD_human Eya1-deficient mice lack ears and kidneys and show abnormal apoptosis of organ primordia. 10471511 1999