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: 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: 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: 998
Gene Symbol: CDC42
CDC42 		cell division cycle 42 0.458 0.846 0.79
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		group 0.100 None 1.000 30 1 1993 2015
Entrez Id: 3190
Gene Symbol: HNRNPK
HNRNPK 		heterogeneous nuclear ribonucleoprotein K 0.539 0.846 1.00
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		group 0.100 None 1.000 30 1 1996 2018
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: 55209
Gene Symbol: SETD5
SETD5 		SET domain containing 5 0.560 0.731 1.00
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		group 0.100 None 1.000 26 1 1995 2018
Entrez Id: 10472
Gene Symbol: ZBTB18
ZBTB18 		zinc finger and BTB domain containing 18 0.666 0.500 1.00
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		group 0.100 None 1.000 26 1 1997 2017
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: 1213
Gene Symbol: CLTC
CLTC 		clathrin heavy chain 0.558 0.769 1.00
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		group 0.100 None 1.000 23 1 1976 2017
Entrez Id: 51651
Gene Symbol: PTRH2
PTRH2 		peptidyl-tRNA hydrolase 2 0.641 0.577 6.4E-04
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		group 0.100 None 1.000 23 1 1976 2017
Entrez Id: 54567
Gene Symbol: DLL4
DLL4 		delta like canonical Notch ligand 4 0.494 0.769 1.00
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		group 0.100 None 1.000 22 1 1996 2013
Entrez Id: 64919
Gene Symbol: BCL11B
BCL11B 		BAF chromatin remodeling complex subunit BCL11B 0.568 0.731 0.99
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		group 0.100 None 1.000 19 1 2003 2016
Entrez Id: 2033
Gene Symbol: EP300
EP300 		E1A binding protein p300 0.459 0.846 1.00
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		group 0.100 None 1.000 19 1 1963 2016
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A 		sodium voltage-gated channel alpha subunit 5 0.513 0.654 0.91
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		group 0.100 None 1.000 19 1 1998 2014
Entrez Id: 2186
Gene Symbol: BPTF
BPTF 		bromodomain PHD finger transcription factor 0.560 0.769 1.00
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		group 0.100 None 1.000 19 1 1995 2017
Entrez Id: 8831
Gene Symbol: SYNGAP1
SYNGAP1 		synaptic Ras GTPase activating protein 1 0.584 0.577 1.00
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		group 0.100 None 1.000 18 1 2004 2017
Entrez Id: 10236
Gene Symbol: HNRNPR
HNRNPR 		heterogeneous nuclear ribonucleoprotein R 0.722 0.308 1.00
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		group 0.100 None 1.000 18 1 1998 2014
Entrez Id: 7403
Gene Symbol: KDM6A
KDM6A 		lysine demethylase 6A 0.498 0.769 1.00
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		group 0.100 None 1.000 17 1 1998 2016
Entrez Id: 79738
Gene Symbol: BBS10
BBS10 		Bardet-Biedl syndrome 10 0.644 0.538 1.7E-12
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		group 0.100 None 1.000 17 1 1999 2013
Entrez Id: 1302
Gene Symbol: COL11A2
COL11A2 		collagen type XI alpha 2 chain 0.435 0.846 0.70
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		group 0.100 None 1.000 17 1 1975 2012
Entrez Id: 8243
Gene Symbol: SMC1A
SMC1A 		structural maintenance of chromosomes 1A 0.509 0.808 1.00
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		group 0.100 None 1.000 16 1 1995 2017
Entrez Id: 547
Gene Symbol: KIF1A
KIF1A 		kinesin family member 1A 0.559 0.692 1.00
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		group 0.100 None 1.000 15 1 2011 2018
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
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: 5728
Gene Symbol: PTEN
PTEN 		phosphatase and tensin homolog 0.305 0.923 0.26
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		group 0.400 None 1.000 14 1 2001 2015