Source: GENOMICS_ENGLAND

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: 1501
Gene Symbol: CTNND2
CTNND2
catenin delta 2 0.579 0.731 1.00
CUI: C3495676
Disease: Anorectal Malformations
Anorectal Malformations
group 0.300 None 1.000 1 0 2013 2013
Entrez Id: 8573
Gene Symbol: CASK
CASK
calcium/calmodulin dependent serine protein kinase 0.538 0.808 1.00
CUI: C3495676
Disease: Anorectal Malformations
Anorectal Malformations
group 0.300 moderate 1.000 1 0 2012 2012
Entrez Id: 9968
Gene Symbol: MED12
MED12
mediator complex subunit 12 0.476 0.769 1.00
CUI: C3495676
Disease: Anorectal Malformations
Anorectal Malformations
group 0.300 strong 1.000 1 0 2008 2008
Entrez Id: 2737
Gene Symbol: GLI3
GLI3
GLI family zinc finger 3 0.436 0.846 1.00
CUI: C3495676
Disease: Anorectal Malformations
Anorectal Malformations
group 0.510 strong 1.000 1 0 2008 2019
Entrez Id: 55553
Gene Symbol: SOX6
SOX6
SRY-box transcription factor 6 0.578 0.615 1.00
CUI: C3495676
Disease: Anorectal Malformations
Anorectal Malformations
group 0.300 None 1.000 1 0 2013 2013
Entrez Id: 2187
Gene Symbol: FANCB
FANCB
FA complementation group B 0.468 0.769 1.00
CUI: C3495676
Disease: Anorectal Malformations
Anorectal Malformations
group 0.300 strong 1.000 1 0 2016 2016
Entrez Id: 23164
Gene Symbol: MPRIP
MPRIP
myosin phosphatase Rho interacting protein 0.556 0.885 0.98
CUI: C3495676
Disease: Anorectal Malformations
Anorectal Malformations
group 0.300 None 1.000 1 0 2013 2013
Entrez Id: 2294
Gene Symbol: FOXF1
FOXF1
forkhead box F1 0.540 0.692 0.96
CUI: C3495676
Disease: Anorectal Malformations
Anorectal Malformations
group 0.300 strong 1.000 1 0 2019 2019
Entrez Id: 64399
Gene Symbol: HHIP
HHIP
hedgehog interacting protein 0.550 0.654 0.95
CUI: C3495676
Disease: Anorectal Malformations
Anorectal Malformations
group 0.300 None 1.000 1 0 2016 2016
Entrez Id: 6659
Gene Symbol: SOX4
SOX4
SRY-box transcription factor 4 0.489 0.808 0.93
CUI: C3495676
Disease: Anorectal Malformations
Anorectal Malformations
group 0.300 None 1.000 1 0 2013 2013
Entrez Id: 7547
Gene Symbol: ZIC3
ZIC3
Zic family member 3 0.587 0.423 0.92
CUI: C3495676
Disease: Anorectal Malformations
Anorectal Malformations
group 0.300 strong 1.000 1 0 2011 2011
Entrez Id: 92002
Gene Symbol: CCNQ
CCNQ
cyclin Q 0.663 0.462 0.90
CUI: C3495676
Disease: Anorectal Malformations
Anorectal Malformations
group 0.300 strong 1.000 1 0 2015 2015
Entrez Id: 4613
Gene Symbol: MYCN
MYCN
MYCN proto-oncogene, bHLH transcription factor 0.454 0.808 0.89
CUI: C3495676
Disease: Anorectal Malformations
Anorectal Malformations
group 0.300 moderate 1.000 1 0 2005 2005
Entrez Id: 22871
Gene Symbol: NLGN1
NLGN1
neuroligin 1 0.705 0.385 0.85
CUI: C3495676
Disease: Anorectal Malformations
Anorectal Malformations
group 0.300 None 1.000 1 0 2013 2013
Entrez Id: 51029
Gene Symbol: DESI2
DESI2
desumoylating isopeptidase 2 0.691 0.385 0.85
CUI: C3495676
Disease: Anorectal Malformations
Anorectal Malformations
group 0.300 None 1.000 1 0 2013 2013
Entrez Id: 23048
Gene Symbol: FNBP1
FNBP1
formin binding protein 1 0.736 0.269 0.83
CUI: C3495676
Disease: Anorectal Malformations
Anorectal Malformations
group 0.300 None 1.000 1 0 2013 2013
Entrez Id: 3110
Gene Symbol: MNX1
MNX1
motor neuron and pancreas homeobox 1 0.555 0.615 0.79
CUI: C3495676
Disease: Anorectal Malformations
Anorectal Malformations
group 0.310 strong 1.000 1 0 2003 2006
Entrez Id: 6786
Gene Symbol: STIM1
STIM1
stromal interaction molecule 1 0.501 0.808 0.78
CUI: C3495676
Disease: Anorectal Malformations
Anorectal Malformations
group 0.300 None 1.000 1 0 2013 2013
Entrez Id: 3717
Gene Symbol: JAK2
JAK2
Janus kinase 2 0.385 0.885 0.65
CUI: C3495676
Disease: Anorectal Malformations
Anorectal Malformations
group 0.300 None 1.000 1 0 2013 2013
Entrez Id: 1024
Gene Symbol: CDK8
CDK8
cyclin dependent kinase 8 0.597 0.654 0.41
CUI: C3495676
Disease: Anorectal Malformations
Anorectal Malformations
group 0.300 strong 1.000 1 0 2019 2019
Entrez Id: 90362
Gene Symbol: FAM110B
FAM110B
family with sequence similarity 110 member B 0.861 0.115 0.36
CUI: C3495676
Disease: Anorectal Malformations
Anorectal Malformations
group 0.300 None 1.000 1 0 2013 2013
Entrez Id: 1016
Gene Symbol: CDH18
CDH18
cadherin 18 0.769 0.269 0.21
CUI: C3495676
Disease: Anorectal Malformations
Anorectal Malformations
group 0.300 None 1.000 1 0 2013 2013
Entrez Id: 1044
Gene Symbol: CDX1
CDX1
caudal type homeobox 1 0.644 0.346 0.14
CUI: C3495676
Disease: Anorectal Malformations
Anorectal Malformations
group 0.320 strong 1.000 1 0 2013 2018
Entrez Id: 85403
Gene Symbol: EAF1
EAF1
ELL associated factor 1 0.821 0.115 6.1E-02
CUI: C3495676
Disease: Anorectal Malformations
Anorectal Malformations
group 0.300 None 1.000 1 0 2013 2013
Entrez Id: 92241
Gene Symbol: RCSD1
RCSD1
RCSD domain containing 1 0.821 0.192 3.6E-02
CUI: C3495676
Disease: Anorectal Malformations
Anorectal Malformations
group 0.300 None 1.000 1 0 2013 2013