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: 1028
Gene Symbol: CDKN1C
CDKN1C
cyclin dependent kinase inhibitor 1C 0.456 0.846 0.82
CUI: C0004903
Disease: Beckwith-Wiedemann Syndrome
Beckwith-Wiedemann Syndrome
disease 0.800 None 1.000 73 0 1992 2019
Entrez Id: 3481
Gene Symbol: IGF2
IGF2
insulin like growth factor 2 0.390 0.885 4.4E-02
CUI: C0004903
Disease: Beckwith-Wiedemann Syndrome
Beckwith-Wiedemann Syndrome
disease 0.600 None 0.959 73 0 1986 2019
Entrez Id: 10984
Gene Symbol: KCNQ1OT1
KCNQ1OT1
KCNQ1 opposite strand/antisense transcript 1 0.534 0.731
CUI: C0004903
Disease: Beckwith-Wiedemann Syndrome
Beckwith-Wiedemann Syndrome
disease 0.600 None 0.981 53 0 1999 2018
Entrez Id: 283120
Gene Symbol: H19
H19
H19 imprinted maternally expressed transcript 0.494 0.923
CUI: C0004903
Disease: Beckwith-Wiedemann Syndrome
Beckwith-Wiedemann Syndrome
disease 0.600 limited 0.950 17 0 1994 2017
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
potassium voltage-gated channel subfamily Q member 1 0.485 0.769 4.5E-08
CUI: C0004903
Disease: Beckwith-Wiedemann Syndrome
Beckwith-Wiedemann Syndrome
disease 0.500 None 1.000 14 0 1997 2019
Entrez Id: 64324
Gene Symbol: NSD1
NSD1
nuclear receptor binding SET domain protein 1 0.505 0.769 1.00
CUI: C0004903
Disease: Beckwith-Wiedemann Syndrome
Beckwith-Wiedemann Syndrome
disease 0.430 strong 1.000 3 0 2003 2017
Entrez Id: 105259599
Gene Symbol: H19-ICR
H19-ICR
H19/IGF2 imprinting control region 0.631 0.615
CUI: C0004903
Disease: Beckwith-Wiedemann Syndrome
Beckwith-Wiedemann Syndrome
disease 0.400 None 1.000 20 0 2007 2019
Entrez Id: 6711
Gene Symbol: SPTBN1
SPTBN1
spectrin beta, non-erythrocytic 1 0.619 0.538 1.00
CUI: C0004903
Disease: Beckwith-Wiedemann Syndrome
Beckwith-Wiedemann Syndrome
disease 0.210 None 1.000 1 0 2010 2016
Entrez Id: 10518
Gene Symbol: CIB2
CIB2
calcium and integrin binding family member 2 0.545 0.808 1.4E-03
CUI: C0004903
Disease: Beckwith-Wiedemann Syndrome
Beckwith-Wiedemann Syndrome
disease 0.100 None 1.000 17 0 1996 2016
Entrez Id: 7051
Gene Symbol: TGM1
TGM1
transglutaminase 1 0.565 0.769 2.3E-13
CUI: C0004903
Disease: Beckwith-Wiedemann Syndrome
Beckwith-Wiedemann Syndrome
disease 0.100 None 1.000 12 0 2010 2019
Entrez Id: 10664
Gene Symbol: CTCF
CTCF
CCCTC-binding factor 0.504 0.769 1.00
CUI: C0004903
Disease: Beckwith-Wiedemann Syndrome
Beckwith-Wiedemann Syndrome
disease 0.080 None 1.000 8 0 2005 2018
Entrez Id: 91833
Gene Symbol: WDR20
WDR20
WD repeat domain 20 0.595 0.769 0.92
CUI: C0004903
Disease: Beckwith-Wiedemann Syndrome
Beckwith-Wiedemann Syndrome
disease 0.060 None 1.000 6 0 2003 2018
Entrez Id: 140821
Gene Symbol: RSS
RSS
Russell Silver syndrome 0.578 0.692
CUI: C0004903
Disease: Beckwith-Wiedemann Syndrome
Beckwith-Wiedemann Syndrome
disease 0.040 None 1.000 4 0 2010 2014
Entrez Id: 7389
Gene Symbol: UROD
UROD
uroporphyrinogen decarboxylase 0.521 0.769 1.3E-08
CUI: C0004903
Disease: Beckwith-Wiedemann Syndrome
Beckwith-Wiedemann Syndrome
disease 0.040 None 0.750 4 0 1999 2011
Entrez Id: 174
Gene Symbol: AFP
AFP
alpha fetoprotein 0.429 0.885 1.1E-11
CUI: C0004903
Disease: Beckwith-Wiedemann Syndrome
Beckwith-Wiedemann Syndrome
disease 0.040 None 1.000 3 0 2007 2019
Entrez Id: 2969
Gene Symbol: GTF2I
GTF2I
general transcription factor IIi 0.500 0.808 1.00
CUI: C0004903
Disease: Beckwith-Wiedemann Syndrome
Beckwith-Wiedemann Syndrome
disease 0.030 None 1.000 3 0 1992 2017
Entrez Id: 3265
Gene Symbol: HRAS
HRAS
HRas proto-oncogene, GTPase 0.378 0.885 8.0E-02
CUI: C0004903
Disease: Beckwith-Wiedemann Syndrome
Beckwith-Wiedemann Syndrome
disease 0.030 None 1.000 3 0 1988 1988
Entrez Id: 2006
Gene Symbol: ELN
ELN
elastin 0.415 0.885 2.1E-14
CUI: C0004903
Disease: Beckwith-Wiedemann Syndrome
Beckwith-Wiedemann Syndrome
disease 0.030 None 1.000 3 0 1992 2017
Entrez Id: 3479
Gene Symbol: IGF1
IGF1
insulin like growth factor 1 0.318 0.885 0.27
CUI: C0004903
Disease: Beckwith-Wiedemann Syndrome
Beckwith-Wiedemann Syndrome
disease 0.030 None 1.000 3 0 1996 2018
Entrez Id: 5325
Gene Symbol: PLAGL1
PLAGL1
PLAG1 like zinc finger 1 0.566 0.769 0.98
CUI: C0004903
Disease: Beckwith-Wiedemann Syndrome
Beckwith-Wiedemann Syndrome
disease 0.030 None 1.000 3 0 2005 2015
Entrez Id: 6611
Gene Symbol: SMS
SMS
spermine synthase 0.491 0.846 0.97
CUI: C0004903
Disease: Beckwith-Wiedemann Syndrome
Beckwith-Wiedemann Syndrome
disease 0.030 None 1.000 3 0 2010 2013
Entrez Id: 2719
Gene Symbol: GPC3
GPC3
glypican 3 0.466 0.808 1.00
CUI: C0004903
Disease: Beckwith-Wiedemann Syndrome
Beckwith-Wiedemann Syndrome
disease 0.030 None 1.000 3 0 1998 2001
Entrez Id: 11151
Gene Symbol: CORO1A
CORO1A
coronin 1A 0.564 0.692 0.97
CUI: C0004903
Disease: Beckwith-Wiedemann Syndrome
Beckwith-Wiedemann Syndrome
disease 0.030 None 1.000 3 0 2005 2019
Entrez Id: 115482706
Gene Symbol: H3P47
H3P47
H3 histone pseudogene 47 0.603 0.538
CUI: C0004903
Disease: Beckwith-Wiedemann Syndrome
Beckwith-Wiedemann Syndrome
disease 0.030 None 1.000 3 0 2005 2019
Entrez Id: 3482
Gene Symbol: IGF2R
IGF2R
insulin like growth factor 2 receptor 0.518 0.731 1.00
CUI: C0004903
Disease: Beckwith-Wiedemann Syndrome
Beckwith-Wiedemann Syndrome
disease 0.020 None 1.000 2 0 2006 2015