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: 60
Gene Symbol: ACTB
ACTB
actin beta 0.325 0.923 0.99
CUI: C0175702
Disease: Williams Syndrome
Williams Syndrome
disease 0.010 None 1.000 1 0 2004 2004
Entrez Id: 81794
Gene Symbol: ADAMTS10
ADAMTS10
ADAM metallopeptidase with thrombospondin type 1 motif 10 0.641 0.500 0.84
CUI: C0175702
Disease: Williams Syndrome
Williams Syndrome
disease 0.060 None 1.000 6 1 2008 2019
Entrez Id: 170691
Gene Symbol: ADAMTS17
ADAMTS17
ADAM metallopeptidase with thrombospondin type 1 motif 17 0.678 0.385 2.8E-15
CUI: C0175702
Disease: Williams Syndrome
Williams Syndrome
disease 0.070 None 0.857 7 0 2009 2019
Entrez Id: 9719
Gene Symbol: ADAMTSL2
ADAMTSL2
ADAMTS like 2 0.666 0.346 1.6E-03
CUI: C0175702
Disease: Williams Syndrome
Williams Syndrome
disease 0.010 None 1.000 1 0 2011 2011
Entrez Id: 414
Gene Symbol: ARSD
ARSD
arylsulfatase D 0.535 0.808 1.6E-03
CUI: C0175702
Disease: Williams Syndrome
Williams Syndrome
disease 0.020 None 1.000 2 0 2018 2018
Entrez Id: 545
Gene Symbol: ATR
ATR
ATR serine/threonine kinase 0.456 0.923 3.5E-09
CUI: C0175702
Disease: Williams Syndrome
Williams Syndrome
disease 0.020 None 1.000 2 0 2007 2017
Entrez Id: 551
Gene Symbol: AVP
AVP
arginine vasopressin 0.437 0.846 7.4E-02
CUI: C0175702
Disease: Williams Syndrome
Williams Syndrome
disease 0.010 None 1.000 1 0 2014 2014
Entrez Id: 9031
Gene Symbol: BAZ1B
BAZ1B
bromodomain adjacent to zinc finger domain 1B 0.530 0.731 1.00
CUI: C0175702
Disease: Williams Syndrome
Williams Syndrome
disease 0.600 None 1.000 13 0 1998 2017
Entrez Id: 605
Gene Symbol: BCL7A
BCL7A
BAF chromatin remodeling complex subunit BCL7A 0.736 0.385 7.8E-02
CUI: C0175702
Disease: Williams Syndrome
Williams Syndrome
disease 0.010 None 1.000 1 0 1998 1998
Entrez Id: 9275
Gene Symbol: BCL7B
BCL7B
BAF chromatin remodeling complex subunit BCL7B 0.821 0.308 0.19
CUI: C0175702
Disease: Williams Syndrome
Williams Syndrome
disease 0.030 None 1.000 3 0 1998 2018
Entrez Id: 114049
Gene Symbol: BUD23
BUD23
BUD23 rRNA methyltransferase and ribosome maturation factor 0.839 0.269 7.7E-05
CUI: C0175702
Disease: Williams Syndrome
Williams Syndrome
disease 0.020 None 1.000 2 0 2001 2019
Entrez Id: 781
Gene Symbol: CACNA2D1
CACNA2D1
calcium voltage-gated channel auxiliary subunit alpha2delta 1 0.641 0.500 1.00
CUI: C0175702
Disease: Williams Syndrome
Williams Syndrome
disease 0.010 None 1.000 1 0 1996 1996
Entrez Id: 796
Gene Symbol: CALCA
CALCA
calcitonin related polypeptide alpha 0.416 0.923 1.6E-02
CUI: C0175702
Disease: Williams Syndrome
Williams Syndrome
disease 0.030 None 1.000 3 0 1988 1991
Entrez Id: 799
Gene Symbol: CALCR
CALCR
calcitonin receptor 0.464 0.846 3.1E-09
CUI: C0175702
Disease: Williams Syndrome
Williams Syndrome
disease 0.010 None 1.000 1 0 1995 1995
Entrez Id: 158506
Gene Symbol: CBLL2
CBLL2
Cbl proto-oncogene like 2 0.476 0.808
CUI: C0175702
Disease: Williams Syndrome
Williams Syndrome
disease 0.010 None 1.000 1 0 2008 2008
Entrez Id: 1028
Gene Symbol: CDKN1C
CDKN1C
cyclin dependent kinase inhibitor 1C 0.456 0.846 0.82
CUI: C0175702
Disease: Williams Syndrome
Williams Syndrome
disease 0.020 None 1.000 2 0 2012 2017
Entrez Id: 1365
Gene Symbol: CLDN3
CLDN3
claudin 3 0.558 0.615 0.52
CUI: C0175702
Disease: Williams Syndrome
Williams Syndrome
disease 0.020 None 1.000 2 0 1998 2010
Entrez Id: 1364
Gene Symbol: CLDN4
CLDN4
claudin 4 0.514 0.692 7.0E-05
CUI: C0175702
Disease: Williams Syndrome
Williams Syndrome
disease 0.020 None 1.000 2 0 1998 2010
Entrez Id: 6249
Gene Symbol: CLIP1
CLIP1
CAP-Gly domain containing linker protein 1 0.617 0.654 0.68
CUI: C0175702
Disease: Williams Syndrome
Williams Syndrome
disease 0.010 None 1.000 1 0 2004 2004
Entrez Id: 7461
Gene Symbol: CLIP2
CLIP2
CAP-Gly domain containing linker protein 2 0.529 0.808 1.00
CUI: C0175702
Disease: Williams Syndrome
Williams Syndrome
disease 0.270 None 1.000 8 0 1998 2012
Entrez Id: 1351
Gene Symbol: COX8A
COX8A
cytochrome c oxidase subunit 8A 0.400 0.846 0.12
CUI: C0175702
Disease: Williams Syndrome
Williams Syndrome
disease 0.010 None 1.000 1 0 2002 2002
Entrez Id: 10664
Gene Symbol: CTCF
CTCF
CCCTC-binding factor 0.504 0.769 1.00
CUI: C0175702
Disease: Williams Syndrome
Williams Syndrome
disease 0.010 None 1.000 1 0 2015 2015
Entrez Id: 1663
Gene Symbol: DDX11
DDX11
DEAD/H-box helicase 11 0.674 0.577 2.3E-21
CUI: C0175702
Disease: Williams Syndrome
Williams Syndrome
disease 0.010 None 1.000 1 0 2018 2018
Entrez Id: 1666
Gene Symbol: DECR1
DECR1
2,4-dienoyl-CoA reductase 1 0.426 0.885 4.5E-14
CUI: C0175702
Disease: Williams Syndrome
Williams Syndrome
disease 0.020 None 1.000 2 0 2006 2012
Entrez Id: 1742
Gene Symbol: DLG4
DLG4
discs large MAGUK scaffold protein 4 0.595 0.654 1.00
CUI: C0175702
Disease: Williams Syndrome
Williams Syndrome
disease 0.510 None 1.000 1 0 2010 2010