Source: BEFREE

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: 5290
Gene Symbol: PIK3CA
PIK3CA 		phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha 0.292 0.923 1.00
CUI: C0265552
Disease: Congenital macrodactylia
Congenital macrodactylia 		disease 0.670 strong 1.000 7 1 2009 2020
Entrez Id: 207
Gene Symbol: AKT1
AKT1 		AKT serine/threonine kinase 1 0.311 0.962 0.98
CUI: C0265552
Disease: Congenital macrodactylia
Congenital macrodactylia 		disease 0.110 None 1.000 1 0 2013 2013
Entrez Id: 7248
Gene Symbol: TSC1
TSC1 		TSC complex subunit 1 0.440 0.808 1.00
CUI: C0265552
Disease: Congenital macrodactylia
Congenital macrodactylia 		disease 0.110 None 1.000 1 0 2016 2016
Entrez Id: 116443
Gene Symbol: GRIN3A
GRIN3A 		glutamate ionotropic receptor NMDA type subunit 3A 0.743 0.423 0.45
CUI: C0265552
Disease: Congenital macrodactylia
Congenital macrodactylia 		disease 0.010 None 1.000 1 0 2016 2016
Entrez Id: 4137
Gene Symbol: MAPT
MAPT 		microtubule associated protein tau 0.446 0.923 6.0E-03
CUI: C0265552
Disease: Congenital macrodactylia
Congenital macrodactylia 		disease 0.010 None 1.000 1 0 2016 2016
Entrez Id: 4882
Gene Symbol: NPR2
NPR2 		natriuretic peptide receptor 2 0.573 0.615 4.2E-05
CUI: C0265552
Disease: Congenital macrodactylia
Congenital macrodactylia 		disease 0.010 None 1.000 1 1 2012 2012