Source: CLINGEN

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 147912
Gene Symbol: SIX5
SIX5 		SIX homeobox 5 0.666 0.500 6.9E-03
CUI: C0265234
Disease: Branchio-Oto-Renal Syndrome
Branchio-Oto-Renal Syndrome 		disease 0.530 disputed 1.000 6 0 2000 2014
Entrez Id: 6495
Gene Symbol: SIX1
SIX1 		SIX homeobox 1 0.496 0.692 0.65
CUI: C0265234
Disease: Branchio-Oto-Renal Syndrome
Branchio-Oto-Renal Syndrome 		disease 0.900 definitive 1.000 10 0 1998 2018
Entrez Id: 2138
Gene Symbol: EYA1
EYA1 		EYA transcriptional coactivator and phosphatase 1 0.531 0.731 0.95
CUI: C0265234
Disease: Branchio-Oto-Renal Syndrome
Branchio-Oto-Renal Syndrome 		disease 0.800 definitive 0.979 6 0 1996 2018