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: 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: 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: 51057
Gene Symbol: WDPCP
WDPCP
WD repeat containing planar cell polarity effector 0.576 0.769 1.1E-10
CUI: C3495676
Disease: Anorectal Malformations
Anorectal Malformations
group 0.300 None 1.000 1 0 2013 2013
Entrez Id: 51086
Gene Symbol: TNNI3K
TNNI3K
TNNI3 interacting kinase 0.691 0.346 3.1E-48
CUI: C3495676
Disease: Anorectal Malformations
Anorectal Malformations
group 0.300 None 1.000 1 0 2013 2013
Entrez Id: 51295
Gene Symbol: ECSIT
ECSIT
ECSIT signaling integrator 0.931 0.192 6.8E-06
CUI: C3495676
Disease: Anorectal Malformations
Anorectal Malformations
group 0.300 None 1.000 1 0 2013 2013
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: 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
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: 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: 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: 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: 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: 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: 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: 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: 1910
Gene Symbol: EDNRB
EDNRB
endothelin receptor type B 0.470 0.846 9.2E-03
CUI: C3495676
Disease: Anorectal Malformations
Anorectal Malformations
group 0.310 None 1.000 1 0 2007 2007
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: 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: 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: 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: 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: 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