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: 4015
Gene Symbol: LOX
LOX
lysyl oxidase 0.447 0.846 0.99
CUI: C0175702
Disease: Williams Syndrome
Williams Syndrome
disease 0.200 None 0 0
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: 6283
Gene Symbol: S100A12
S100A12
S100 calcium binding protein A12 0.488 0.846 0.48
CUI: C0175702
Disease: Williams Syndrome
Williams Syndrome
disease 0.020 None 1.000 2 0 1989 1991
Entrez Id: 80818
Gene Symbol: ZNF436
ZNF436
zinc finger protein 436 0.670 0.500 5.1E-05
CUI: C0175702
Disease: Williams Syndrome
Williams Syndrome
disease 0.010 None 1.000 1 0 1995 1995
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: 148266
Gene Symbol: ZNF569
ZNF569
zinc finger protein 569 0.666 0.538 6.6E-08
CUI: C0175702
Disease: Williams Syndrome
Williams Syndrome
disease 0.010 None 1.000 1 0 1995 1995
Entrez Id: 284390
Gene Symbol: ZNF763
ZNF763
zinc finger protein 763 0.691 0.500 1.8E-02
CUI: C0175702
Disease: Williams Syndrome
Williams Syndrome
disease 0.010 None 1.000 1 0 1995 1995
Entrez Id: 23361
Gene Symbol: ZNF629
ZNF629
zinc finger protein 629 0.691 0.500 1.00
CUI: C0175702
Disease: Williams Syndrome
Williams Syndrome
disease 0.010 None 1.000 1 0 1995 1995
Entrez Id: 7702
Gene Symbol: ZNF143
ZNF143
zinc finger protein 143 0.670 0.577 2.4E-04
CUI: C0175702
Disease: Williams Syndrome
Williams Syndrome
disease 0.010 None 1.000 1 0 1995 1995
Entrez Id: 51710
Gene Symbol: ZNF44
ZNF44
zinc finger protein 44 0.780 0.308 2.6E-03
CUI: C0175702
Disease: Williams Syndrome
Williams Syndrome
disease 0.010 None 1.000 1 0 1995 1995
Entrez Id: 115560
Gene Symbol: ZNF501
ZNF501
zinc finger protein 501 0.792 0.308 0.28
CUI: C0175702
Disease: Williams Syndrome
Williams Syndrome
disease 0.010 None 1.000 1 0 1995 1995
Entrez Id: 10611
Gene Symbol: PDLIM5
PDLIM5
PDZ and LIM domain 5 0.525 0.808 1.7E-03
CUI: C0175702
Disease: Williams Syndrome
Williams Syndrome
disease 0.010 None 1.000 1 0 1996 1996
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: 5395
Gene Symbol: PMS2
PMS2
PMS1 homolog 2, mismatch repair system component 0.484 0.808 4.5E-27
CUI: C0175702
Disease: Williams Syndrome
Williams Syndrome
disease 0.010 None 1.000 1 0 1997 1997
Entrez Id: 8321
Gene Symbol: FZD1
FZD1
frizzled class receptor 1 0.587 0.615 4.2E-02
CUI: C0175702
Disease: Williams Syndrome
Williams Syndrome
disease 0.010 None 1.000 1 0 1997 1997
Entrez Id: 7855
Gene Symbol: FZD5
FZD5
frizzled class receptor 5 0.587 0.615 0.98
CUI: C0175702
Disease: Williams Syndrome
Williams Syndrome
disease 0.010 None 1.000 1 0 1997 1997
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: 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: 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: 26608
Gene Symbol: TBL2
TBL2
transducin beta like 2 0.538 0.731 1.8E-04
CUI: C0175702
Disease: Williams Syndrome
Williams Syndrome
disease 0.010 None 1.000 1 0 1999 1999
Entrez Id: 10734
Gene Symbol: STAG3
STAG3
stromal antigen 3 0.722 0.385 8.7E-13
CUI: C0175702
Disease: Williams Syndrome
Williams Syndrome
disease 0.010 None 1.000 1 0 2000 2000
Entrez Id: 6700
Gene Symbol: SPRR2A
SPRR2A
small proline rich protein 2A 0.612 0.731
CUI: C0175702
Disease: Williams Syndrome
Williams Syndrome
disease 0.010 None 1.000 1 0 2001 2001
Entrez Id: 107986810
Gene Symbol: WBSCR23
WBSCR23
Williams-Beuren syndrome chromosome region 23 1.000 0.115
CUI: C0175702
Disease: Williams Syndrome
Williams Syndrome
disease 0.010 None 1.000 1 0 2002 2002
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: 27445
Gene Symbol: PCLO
PCLO
piccolo presynaptic cytomatrix protein 0.656 0.577 1.00
CUI: C0175702
Disease: Williams Syndrome
Williams Syndrome
disease 0.010 None 1.000 1 0 2002 2002