Source: GENOMICS_ENGLAND

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: 1282
Gene Symbol: COL4A1
COL4A1 		collagen type IV alpha 1 chain 0.484 0.731 1.00
CUI: C0266484
Disease: Schizencephaly
Schizencephaly 		disease 0.750 strong 1.000 1 0 2013 2019
Entrez Id: 6496
Gene Symbol: SIX3
SIX3 		SIX homeobox 3 0.560 0.692 0.95
CUI: C0266484
Disease: Schizencephaly
Schizencephaly 		disease 0.610 None 1.000 1 0 2008 2010
Entrez Id: 2018
Gene Symbol: EMX2
EMX2 		empty spiracles homeobox 2 0.623 0.577 0.95
CUI: C0266484
Disease: Schizencephaly
Schizencephaly 		disease 0.460 None 1.000 2 0 1997 2008
Entrez Id: 6469
Gene Symbol: SHH
SHH 		sonic hedgehog signaling molecule 0.461 0.846 0.98
CUI: C0266484
Disease: Schizencephaly
Schizencephaly 		disease 0.410 strong 1.000 1 0 2003 2010