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: 2006
Gene Symbol: ELN
ELN
elastin 0.415 0.885 2.1E-14
CUI: C0175702
Disease: Williams Syndrome
Williams Syndrome
disease 0.400 None 0.988 81 0 1993 2019
Entrez Id: 2969
Gene Symbol: GTF2I
GTF2I
general transcription factor IIi 0.500 0.808 1.00
CUI: C0175702
Disease: Williams Syndrome
Williams Syndrome
disease 0.600 None 0.975 40 0 1998 2019
Entrez Id: 9569
Gene Symbol: GTF2IRD1
GTF2IRD1
GTF2I repeat domain containing 1 0.522 0.769 0.90
CUI: C0175702
Disease: Williams Syndrome
Williams Syndrome
disease 0.600 None 0.963 27 0 1999 2019
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: 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: 2200
Gene Symbol: FBN1
FBN1
fibrillin 1 0.417 0.846 1.00
CUI: C0175702
Disease: Williams Syndrome
Williams Syndrome
disease 0.080 None 1.000 8 1 1999 2017
Entrez Id: 6804
Gene Symbol: STX1A
STX1A
syntaxin 1A 0.621 0.654 0.98
CUI: C0175702
Disease: Williams Syndrome
Williams Syndrome
disease 0.080 None 0.750 8 0 1998 2011
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: 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: 84163
Gene Symbol: GTF2IRD2
GTF2IRD2
GTF2I repeat domain containing 2 0.931 0.154 3.2E-08
CUI: C0175702
Disease: Williams Syndrome
Williams Syndrome
disease 0.060 None 1.000 6 0 2004 2019
Entrez Id: 8326
Gene Symbol: FZD9
FZD9
frizzled class receptor 9 0.743 0.308 1.9E-03
CUI: C0175702
Disease: Williams Syndrome
Williams Syndrome
disease 0.240 None 1.000 5 0 1999 2011
Entrez Id: 653361
Gene Symbol: NCF1
NCF1
neutrophil cytosolic factor 1 0.521 0.808 2.8E-05
CUI: C0175702
Disease: Williams Syndrome
Williams Syndrome
disease 0.050 None 1.000 5 0 2002 2014
Entrez Id: 5982
Gene Symbol: RFC2
RFC2
replication factor C subunit 2 0.520 0.769 2.2E-06
CUI: C0175702
Disease: Williams Syndrome
Williams Syndrome
disease 0.040 None 1.000 4 0 2000 2017
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: 7976
Gene Symbol: FZD3
FZD3
frizzled class receptor 3 0.659 0.577 4.4E-04
CUI: C0175702
Disease: Williams Syndrome
Williams Syndrome
disease 0.030 None 1.000 3 0 1997 1999
Entrez Id: 51085
Gene Symbol: MLXIPL
MLXIPL
MLX interacting protein like 0.554 0.731 4.8E-02
CUI: C0175702
Disease: Williams Syndrome
Williams Syndrome
disease 0.330 None 1.000 3 0 2000 2004
Entrez Id: 7458
Gene Symbol: EIF4H
EIF4H
eukaryotic translation initiation factor 4H 0.839 0.231 0.44
CUI: C0175702
Disease: Williams Syndrome
Williams Syndrome
disease 0.220 None 1.000 3 0 1996 2012
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: 55695
Gene Symbol: NSUN5
NSUN5
NOP2/Sun RNA methyltransferase 5 0.663 0.423 8.2E-13
CUI: C0175702
Disease: Williams Syndrome
Williams Syndrome
disease 0.030 None 1.000 3 0 2001 2019
Entrez Id: 9124
Gene Symbol: PDLIM1
PDLIM1
PDZ and LIM domain 1 0.729 0.423 1.5E-03
CUI: C0175702
Disease: Williams Syndrome
Williams Syndrome
disease 0.020 None 1.000 2 0 2002 2019
Entrez Id: 7462
Gene Symbol: LAT2
LAT2
linker for activation of T cells family member 2 0.656 0.577 2.2E-04
CUI: C0175702
Disease: Williams Syndrome
Williams Syndrome
disease 0.020 None 1.000 2 0 2000 2004
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: 2970
Gene Symbol: GTF2IP1
GTF2IP1
general transcription factor IIi pseudogene 1 1.000 0.115
CUI: C0175702
Disease: Williams Syndrome
Williams Syndrome
disease 0.020 None 1.000 2 0 1998 1998
Entrez Id: 3014
Gene Symbol: H2AX
H2AX
H2A.X variant histone 0.484 0.808 0.18
CUI: C0175702
Disease: Williams Syndrome
Williams Syndrome
disease 0.020 None 1.000 2 0 2017 2019
Entrez Id: 7486
Gene Symbol: WRN
WRN
WRN RecQ like helicase 0.524 0.808 2.6E-34
CUI: C0175702
Disease: Williams Syndrome
Williams Syndrome
disease 0.020 None 1.000 2 0 2000 2008