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: 154810
Gene Symbol: AMOTL1
AMOTL1
angiomotin like 1 0.736 0.423 1.8E-03
CUI: C3495676
Disease: Anorectal Malformations
Anorectal Malformations
group 0.300 None 1.000 1 0 2013 2013
Entrez Id: 164395
Gene Symbol: TTLL9
TTLL9
tubulin tyrosine ligase like 9 0.861 0.154 3.2E-18
CUI: C3495676
Disease: Anorectal Malformations
Anorectal Malformations
group 0.300 None 1.000 1 0 2013 2013
Entrez Id: 167691
Gene Symbol: LCA5
LCA5
lebercilin LCA5 0.674 0.269 4.1E-05
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: 222546
Gene Symbol: RFX6
RFX6
regulatory factor X6 0.686 0.385 4.1E-04
CUI: C3495676
Disease: Anorectal Malformations
Anorectal Malformations
group 0.300 limited 1.000 1 0 2015 2015
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: 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: 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: 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: 27121
Gene Symbol: DKK4
DKK4
dickkopf WNT signaling pathway inhibitor 4 0.647 0.500 7.7E-04
CUI: C3495676
Disease: Anorectal Malformations
Anorectal Malformations
group 0.300 None 1.000 1 0 2013 2013
Entrez Id: 27152
Gene Symbol: INTU
INTU
inturned planar cell polarity protein 0.555 0.769 7.7E-10
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: 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: 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: 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