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: 1717
Gene Symbol: DHCR7
DHCR7
7-dehydrocholesterol reductase 0.500 0.846 3.9E-13
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
group 0.100 None 1.000 16 2 1994 2013
Entrez Id: 259266
Gene Symbol: ASPM
ASPM
abnormal spindle microtubule assembly 0.526 0.769 3.4E-49
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
group 0.100 None 1.000 10 4 2002 2016
Entrez Id: 70
Gene Symbol: ACTC1
ACTC1
actin alpha cardiac muscle 1 0.610 0.538 0.74
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
group 0.100 None 1.000 5 1 2007 2016
Entrez Id: 60
Gene Symbol: ACTB
ACTB
actin beta 0.325 0.923 0.99
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
group 0.100 None 1.000 10 1 1999 2017
Entrez Id: 71
Gene Symbol: ACTG1
ACTG1
actin gamma 1 0.477 0.846 4.8E-03
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
group 0.100 None 1.000 13 1 1990 2017
Entrez Id: 72
Gene Symbol: ACTG2
ACTG2
actin gamma 2, smooth muscle 0.505 0.808 7.1E-02
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
group 0.100 None 1.000 7 1 2009 2017
Entrez Id: 26053
Gene Symbol: AUTS2
AUTS2
activator of transcription and developmental regulator AUTS2 0.569 0.846 1.00
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
group 0.100 None 0 1
Entrez Id: 90
Gene Symbol: ACVR1
ACVR1
activin A receptor type 1 0.535 0.731 0.33
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
group 0.100 None 1.000 4 1 1996 2015
Entrez Id: 23394
Gene Symbol: ADNP
ADNP
activity dependent neuroprotector homeobox 0.561 0.808 1.00
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
group 0.100 None 1.000 11 3 2001 2017
Entrez Id: 176
Gene Symbol: ACAN
ACAN
aggrecan 0.528 0.846 1.00
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
group 0.100 None 1.000 11 1 1990 2017
Entrez Id: 8086
Gene Symbol: AAAS
AAAS
aladin WD repeat nucleoporin 0.601 0.654 2.4E-13
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
group 0.100 None 1.000 6 1 1980 2015
Entrez Id: 57505
Gene Symbol: AARS2
AARS2
alanyl-tRNA synthetase 2, mitochondrial 0.644 0.500 5.0E-17
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
group 0.100 None 1.000 4 2 2011 2014
Entrez Id: 60529
Gene Symbol: ALX4
ALX4
ALX homeobox 4 0.560 0.692 0.36
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
group 0.100 None 1.000 6 1 2000 2012
Entrez Id: 29123
Gene Symbol: ANKRD11
ANKRD11
ankyrin repeat domain 11 0.556 0.808 1.00
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
group 0.100 None 1.000 18 3 2004 2017
Entrez Id: 3730
Gene Symbol: ANOS1
ANOS1
anosmin 1 0.537 0.769 1.00
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
group 0.100 None 1.000 7 1 1991 2014
Entrez Id: 139285
Gene Symbol: AMER1
AMER1
APC membrane recruitment protein 1 0.570 0.654 0.85
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
group 0.100 None 1.000 8 1 1980 2017
Entrez Id: 171023
Gene Symbol: ASXL1
ASXL1
ASXL transcriptional regulator 1 0.482 0.808 1.3E-14
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
group 0.100 None 1.000 7 3 2004 2015
Entrez Id: 80816
Gene Symbol: ASXL3
ASXL3
ASXL transcriptional regulator 3 0.590 0.577 1.00
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
group 0.100 None 1.000 9 1 2011 2017
Entrez Id: 57492
Gene Symbol: ARID1B
ARID1B
AT-rich interaction domain 1B 0.503 0.846 1.00
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
group 0.100 None 1.000 21 5 1984 2017
Entrez Id: 10060
Gene Symbol: ABCC9
ABCC9
ATP binding cassette subfamily C member 9 0.552 0.692 9.4E-09
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
group 0.100 None 1.000 8 1 1999 2013
Entrez Id: 525
Gene Symbol: ATP6V1B1
ATP6V1B1
ATPase H+ transporting V1 subunit B1 0.695 0.346 2.4E-09
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
group 0.100 None 1.000 9 2 1995 2017
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: 5205
Gene Symbol: ATP8B1
ATP8B1
ATPase phospholipid transporting 8B1 0.610 0.500 2.8E-10
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
group 0.100 None 1.000 6 1 1998 2015
Entrez Id: 546
Gene Symbol: ATRX
ATRX
ATRX chromatin remodeler 0.452 0.808 1.00
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
group 0.100 None 1.000 21 2 1992 2017
Entrez Id: 673
Gene Symbol: BRAF
BRAF
B-Raf proto-oncogene, serine/threonine kinase 0.319 0.846 1.00
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
group 0.100 None 1.000 8 2 1968 2013