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: 1436
Gene Symbol: CSF1R
CSF1R 		colony stimulating factor 1 receptor 0.448 0.808 0.13
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		group 0.100 None 1.000 13 1 1984 2014
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2 		fibroblast growth factor receptor 2 0.380 0.808 1.00
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		group 0.400 None 1.000 26 2 1985 2017
Entrez Id: 2733
Gene Symbol: GLE1
GLE1 		GLE1 RNA export mediator 0.628 0.577 2.1E-10
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		group 0.100 None 1.000 7 1 1985 2017
Entrez Id: 51715
Gene Symbol: RAB23
RAB23 		RAB23, member RAS oncogene family 0.541 0.654 5.6E-03
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		group 0.100 None 1.000 6 1 1985 2014
Entrez Id: 2200
Gene Symbol: FBN1
FBN1 		fibrillin 1 0.417 0.846 1.00
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		group 0.100 None 1.000 29 2 1986 2016
Entrez Id: 8452
Gene Symbol: CUL3
CUL3 		cullin 3 0.592 0.654 1.00
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		group 0.100 None 1.000 25 1 1986 2016
Entrez Id: 23288
Gene Symbol: IQCE
IQCE 		IQ motif containing E 0.805 0.115 1.4E-39
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		group 0.100 None 1.000 12 1 1986 2017
Entrez Id: 7450
Gene Symbol: VWF
VWF 		von Willebrand factor 0.408 0.885 3.2E-25
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		group 0.100 None 1.000 13 1 1987 2015
Entrez Id: 5530
Gene Symbol: PPP3CA
PPP3CA 		protein phosphatase 3 catalytic subunit alpha 0.568 0.769 1.00
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		group 0.100 None 1.000 13 1 1987 2017
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A 		calcium voltage-gated channel subunit alpha1 A 0.489 0.769 1.00
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		group 0.100 None 1.000 46 1 1988 2017
Entrez Id: 6651
Gene Symbol: SON
SON 		SON DNA binding protein 0.565 0.769 1.00
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		group 0.100 None 1.000 28 2 1988 2016
Entrez Id: 478
Gene Symbol: ATP1A3
ATP1A3 		ATPase Na+/K+ transporting subunit alpha 3 0.544 0.615 1.00
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		group 0.100 None 1.000 27 1 1988 2017
Entrez Id: 8085
Gene Symbol: KMT2D
KMT2D 		lysine methyltransferase 2D 0.465 0.808 1.00
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		group 0.100 None 1.000 25 8 1988 2017
Entrez Id: 2548
Gene Symbol: GAA
GAA 		glucosidase alpha, acid 0.631 0.577 2.8E-18
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		group 0.100 None 1.000 18 2 1988 2015
Entrez Id: 161742
Gene Symbol: SPRED1
SPRED1 		sprouty related EVH1 domain containing 1 0.644 0.577 0.97
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		group 0.100 None 1.000 14 1 1988 2013
Entrez Id: 4703
Gene Symbol: NEB
NEB 		nebulin 0.608 0.692 4.6E-41
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		group 0.100 None 1.000 12 2 1988 2017
Entrez Id: 1793
Gene Symbol: DOCK1
DOCK1 		dedicator of cytokinesis 1 0.641 0.577 6.8E-03
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		group 0.100 None 1.000 10 1 1988 2017
Entrez Id: 1788
Gene Symbol: DNMT3A
DNMT3A 		DNA methyltransferase 3 alpha 0.445 0.846 7.4E-39
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		group 0.100 None 1.000 36 1 1989 2018
Entrez Id: 4297
Gene Symbol: KMT2A
KMT2A 		lysine methyltransferase 2A 0.410 0.885 1.00
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		group 0.100 None 1.000 22 5 1989 2017
Entrez Id: 23314
Gene Symbol: SATB2
SATB2 		SATB homeobox 2 0.503 0.769 1.00
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		group 0.100 None 1.000 21 2 1989 2017
Entrez Id: 1654
Gene Symbol: DDX3X
DDX3X 		DEAD-box helicase 3 X-linked 0.537 0.769 1.00
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		group 0.100 None 1.000 16 3 1989 2017
Entrez Id: 2290
Gene Symbol: FOXG1
FOXG1 		forkhead box G1 0.522 0.692 0.94
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		group 0.100 None 1.000 15 1 1989 2017
Entrez Id: 5354
Gene Symbol: PLP1
PLP1 		proteolipid protein 1 0.543 0.769 0.93
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		group 0.100 None 1.000 12 1 1989 2016
Entrez Id: 1859
Gene Symbol: DYRK1A
DYRK1A 		dual specificity tyrosine phosphorylation regulated kinase 1A 0.533 0.769 1.00
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		group 0.100 None 1.000 18 2 1990 2016
Entrez Id: 6567
Gene Symbol: SLC16A2
SLC16A2 		solute carrier family 16 member 2 0.592 0.577 0.99
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		group 0.100 None 1.000 15 1 1990 2016