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: 8988
Gene Symbol: HSPB3
HSPB3
heat shock protein family B (small) member 3 0.448 0.769 6.1E-05
CUI: C0175702
Disease: Williams Syndrome
Williams Syndrome
disease 0.010 None 1.000 1 0 2003 2003
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: 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: 56979
Gene Symbol: PRDM9
PRDM9
PR/SET domain 9 0.686 0.500 4.8E-27
CUI: C0175702
Disease: Williams Syndrome
Williams Syndrome
disease 0.010 None 1.000 1 0 2012 2012
Entrez Id: 55503
Gene Symbol: TRPV6
TRPV6
transient receptor potential cation channel subfamily V member 6 0.603 0.615 6.2E-07
CUI: C0175702
Disease: Williams Syndrome
Williams Syndrome
disease 0.010 None 1.000 1 0 2010 2010
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: 5443
Gene Symbol: POMC
POMC
proopiomelanocortin 0.356 0.846 1.2E-04
CUI: C0175702
Disease: Williams Syndrome
Williams Syndrome
disease 0.010 None 1.000 1 0 2004 2004
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: 5376
Gene Symbol: PMP22
PMP22
peripheral myelin protein 22 0.471 0.885 0.91
CUI: C0175702
Disease: Williams Syndrome
Williams Syndrome
disease 0.010 None 1.000 1 0 2018 2018
Entrez Id: 81554
Gene Symbol: RCC1L
RCC1L
RCC1 like 0.890 0.154 8.7E-04
CUI: C0175702
Disease: Williams Syndrome
Williams Syndrome
disease 0.010 None 1.000 1 0 2017 2017
Entrez Id: 5265
Gene Symbol: SERPINA1
SERPINA1
serpin family A member 1 0.410 0.923 6.8E-08
CUI: C0175702
Disease: Williams Syndrome
Williams Syndrome
disease 0.010 None 1.000 1 0 2010 2010
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: 5111
Gene Symbol: PCNA
PCNA
proliferating cell nuclear antigen 0.382 0.846 0.98
CUI: C0175702
Disease: Williams Syndrome
Williams Syndrome
disease 0.010 None 1.000 1 0 2004 2004
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
parkin RBR E3 ubiquitin protein ligase 0.431 0.846 6.9E-07
CUI: C0175702
Disease: Williams Syndrome
Williams Syndrome
disease 0.010 None 1.000 1 0 2008 2008
Entrez Id: 4689
Gene Symbol: NCF4
NCF4
neutrophil cytosolic factor 4 0.644 0.615 9.0E-08
CUI: C0175702
Disease: Williams Syndrome
Williams Syndrome
disease 0.010 None 1.000 1 0 2018 2018
Entrez Id: 450095
Gene Symbol: PLF
PLF
Pulmonary function 0.544 0.731
CUI: C0175702
Disease: Williams Syndrome
Williams Syndrome
disease 0.010 None 1.000 1 0 2010 2010
Entrez Id: 4154
Gene Symbol: MBNL1
MBNL1
muscleblind like splicing regulator 1 0.650 0.615 0.71
CUI: C0175702
Disease: Williams Syndrome
Williams Syndrome
disease 0.010 None 1.000 1 0 2017 2017
Entrez Id: 4086
Gene Symbol: SMAD1
SMAD1
SMAD family member 1 0.533 0.731 0.99
CUI: C0175702
Disease: Williams Syndrome
Williams Syndrome
disease 0.010 None 1.000 1 0 2018 2018
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: 64324
Gene Symbol: NSD1
NSD1
nuclear receptor binding SET domain protein 1 0.505 0.769 1.00
CUI: C0175702
Disease: Williams Syndrome
Williams Syndrome
disease 0.010 None 1.000 1 0 2007 2007
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: 84650
Gene Symbol: EBPL
EBPL
EBP like 0.615 0.577 7.8E-05
CUI: C0175702
Disease: Williams Syndrome
Williams Syndrome
disease 0.010 None 1.000 1 0 2017 2017
Entrez Id: 84277
Gene Symbol: DNAJC30
DNAJC30
DnaJ heat shock protein family (Hsp40) member C30 1.000 0.115 2.3E-02
CUI: C0175702
Disease: Williams Syndrome
Williams Syndrome
disease 0.010 None 1.000 1 0 2018 2018
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: 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