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: 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: 57217
Gene Symbol: TTC7A
TTC7A
tetratricopeptide repeat domain 7A 0.641 0.577 1.5E-31
CUI: C3495676
Disease: Anorectal Malformations
Anorectal Malformations
group 0.300 limited 1.000 1 0 2014 2014
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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 6444
Gene Symbol: SGCD
SGCD
sarcoglycan delta 0.641 0.615 2.1E-03
CUI: C3495676
Disease: Anorectal Malformations
Anorectal Malformations
group 0.300 None 1.000 1 0 2013 2013
Entrez Id: 7096
Gene Symbol: TLR1
TLR1
toll like receptor 1 0.496 0.808 5.9E-23
CUI: C3495676
Disease: Anorectal Malformations
Anorectal Malformations
group 0.300 None 1.000 1 0 2013 2013
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: 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: 84432
Gene Symbol: PROK1
PROK1
prokineticin 1 0.636 0.462 6.2E-06
CUI: C3495676
Disease: Anorectal Malformations
Anorectal Malformations
group 0.300 None 1.000 1 0 2013 2013
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: 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: 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: 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
Entrez Id: 9882
Gene Symbol: TBC1D4
TBC1D4
TBC1 domain family member 4 0.760 0.385 8.5E-24
CUI: C3495676
Disease: Anorectal Malformations
Anorectal Malformations
group 0.300 None 1.000 1 0 2013 2013
Entrez Id: 64374
Gene Symbol: SIL1
SIL1
SIL1 nucleotide exchange factor 0.584 0.731 1.2E-02
CUI: C3495676
Disease: Anorectal Malformations
Anorectal Malformations
group 0.300 None 1.000 1 0 2013 2013