Source: CLINVAR

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: 5604
Gene Symbol: MAP2K1
MAP2K1 		mitogen-activated protein kinase kinase 1 0.439 0.846 0.90
CUI: C0266617
Disease: Congenital anomaly of face
Congenital anomaly of face 		group 0.100 None 1.000 7 1 2006 2009
Entrez Id: 8036
Gene Symbol: SHOC2
SHOC2 		SHOC2 leucine rich repeat scaffold protein 0.593 0.769 1.00
CUI: C0266617
Disease: Congenital anomaly of face
Congenital anomaly of face 		group 0.100 None 1.000 2 1 2009 2012
Entrez Id: 2475
Gene Symbol: MTOR
MTOR 		mechanistic target of rapamycin kinase 0.343 0.885 1.00
CUI: C0266617
Disease: Congenital anomaly of face
Congenital anomaly of face 		group 0.100 None 0 1
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1 		solute carrier family 2 member 1 0.388 0.808 0.99
CUI: C0266617
Disease: Congenital anomaly of face
Congenital anomaly of face 		group 0.100 None 0 1
Entrez Id: 8021
Gene Symbol: NUP214
NUP214 		nucleoporin 214 0.638 0.385 5.5E-02
CUI: C0266617
Disease: Congenital anomaly of face
Congenital anomaly of face 		group 0.100 None 0 1
Entrez Id: 9158
Gene Symbol: FIBP
FIBP 		FGF1 intracellular binding protein 0.674 0.538 4.4E-06
CUI: C0266617
Disease: Congenital anomaly of face
Congenital anomaly of face 		group 0.100 None 0 1