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: 83479
Gene Symbol: DDX59
DDX59
DEAD-box helicase 59 0.650 0.423 5.9E-07
CUI: C0152427
Disease: Polydactyly
Polydactyly
disease 0.300 strong 1.000 1 0 2013 2013
Entrez Id: 84100
Gene Symbol: ARL6
ARL6
ADP ribosylation factor like GTPase 6 0.636 0.462 1.0E-02
CUI: C0152427
Disease: Polydactyly
Polydactyly
disease 0.400 strong 1.000 1 0 2010 2010
Entrez Id: 894
Gene Symbol: CCND2
CCND2
cyclin D2 0.477 0.808 0.99
CUI: C0152427
Disease: Polydactyly
Polydactyly
disease 0.300 strong 1.000 1 0 2014 2014
Entrez Id: 89910
Gene Symbol: UBE3B
UBE3B
ubiquitin protein ligase E3B 0.590 0.692 4.2E-08
CUI: C0152427
Disease: Polydactyly
Polydactyly
disease 0.300 moderate 1.000 1 0 2012 2012
Entrez Id: 79867
Gene Symbol: TCTN2
TCTN2
tectonic family member 2 0.578 0.654 1.8E-14
CUI: C0152427
Disease: Polydactyly
Polydactyly
disease 0.300 None 1.000 1 0 2011 2011
Entrez Id: 79659
Gene Symbol: DYNC2H1
DYNC2H1
dynein cytoplasmic 2 heavy chain 1 0.555 0.731 1.1E-44
CUI: C0152427
Disease: Polydactyly
Polydactyly
disease 0.430 None 1.000 1 0 2012 2018
Entrez Id: 6608
Gene Symbol: SMO
SMO
smoothened, frizzled class receptor 0.489 0.731 4.3E-07
CUI: C0152427
Disease: Polydactyly
Polydactyly
disease 0.400 strong 1.000 1 0 2016 2016
Entrez Id: 6910
Gene Symbol: TBX5
TBX5
T-box transcription factor 5 0.528 0.769 1.00
CUI: C0152427
Disease: Polydactyly
Polydactyly
disease 0.300 strong 1.000 1 0 1996 1996
Entrez Id: 7020
Gene Symbol: TFAP2A
TFAP2A
transcription factor AP-2 alpha 0.488 0.769 0.99
CUI: C0152427
Disease: Polydactyly
Polydactyly
disease 0.300 moderate 1.000 1 0 2009 2009
Entrez Id: 7021
Gene Symbol: TFAP2B
TFAP2B
transcription factor AP-2 beta 0.570 0.769 0.99
CUI: C0152427
Disease: Polydactyly
Polydactyly
disease 0.300 strong 1.000 1 0 2000 2000
Entrez Id: 727857
Gene Symbol: BHLHA9
BHLHA9
basic helix-loop-helix family member a9 0.644 0.269 0.30
CUI: C0152427
Disease: Polydactyly
Polydactyly
disease 0.420 strong 1.000 1 0 2012 2019
Entrez Id: 7291
Gene Symbol: TWIST1
TWIST1
twist family bHLH transcription factor 1 0.397 0.846 0.34
CUI: C0152427
Disease: Polydactyly
Polydactyly
disease 0.320 strong 1.000 1 0 1998 2018
Entrez Id: 7700
Gene Symbol: ZNF141
ZNF141
zinc finger protein 141 0.792 0.154 0.10
CUI: C0152427
Disease: Polydactyly
Polydactyly
disease 0.300 limited 1.000 1 0 2013 2013
Entrez Id: 7840
Gene Symbol: ALMS1
ALMS1
ALMS1 centrosome and basal body associated protein 0.559 0.808 4.5E-60
CUI: C0152427
Disease: Polydactyly
Polydactyly
disease 0.300 None 1.000 1 0 2015 2015
Entrez Id: 3239
Gene Symbol: HOXD13
HOXD13
homeobox D13 0.483 0.808 8.6E-03
CUI: C0152427
Disease: Polydactyly
Polydactyly
disease 0.450 strong 0.833 1 0 1995 2017
Entrez Id: 3209
Gene Symbol: HOXA13
HOXA13
homeobox A13 0.552 0.654 0.96
CUI: C0152427
Disease: Polydactyly
Polydactyly
disease 0.300 strong 1.000 1 0 1997 1997
Entrez Id: 22858
Gene Symbol: CILK1
CILK1
ciliogenesis associated kinase 1 0.545 0.808 1.3E-05
CUI: C0152427
Disease: Polydactyly
Polydactyly
disease 0.300 None 1.000 1 0 2009 2009
Entrez Id: 10682
Gene Symbol: EBP
EBP
EBP cholestenol delta-isomerase 0.494 0.846 0.94
CUI: C0152427
Disease: Polydactyly
Polydactyly
disease 0.400 strong 1.000 1 0 2003 2003
Entrez Id: 11020
Gene Symbol: IFT27
IFT27
intraflagellar transport 27 0.670 0.462 5.9E-06
CUI: C0152427
Disease: Polydactyly
Polydactyly
disease 0.400 moderate 1.000 1 0 2018 2018
Entrez Id: 255758
Gene Symbol: TCTEX1D2
TCTEX1D2
Tctex1 domain containing 2 0.751 0.346 3.2E-04
CUI: C0152427
Disease: Polydactyly
Polydactyly
disease 0.300 None 1.000 1 0 2015 2015
Entrez Id: 23426
Gene Symbol: GRIP1
GRIP1
glutamate receptor interacting protein 1 0.581 0.769 0.51
CUI: C0152427
Disease: Polydactyly
Polydactyly
disease 0.300 strong 1.000 1 0 2014 2014
Entrez Id: 112752
Gene Symbol: IFT43
IFT43
intraflagellar transport 43 0.617 0.577 1.8E-11
CUI: C0152427
Disease: Polydactyly
Polydactyly
disease 0.300 moderate 1.000 1 0 2017 2017
Entrez Id: 10000
Gene Symbol: AKT3
AKT3
AKT serine/threonine kinase 3 0.512 0.808 1.00
CUI: C0152427
Disease: Polydactyly
Polydactyly
disease 0.300 limited 1.000 1 0 2012 2012
Entrez Id: 22954
Gene Symbol: TRIM32
TRIM32
tripartite motif containing 32 0.587 0.769 1.7E-03
CUI: C0152427
Disease: Polydactyly
Polydactyly
disease 0.400 limited 1.000 1 0 2006 2006
Entrez Id: 1954
Gene Symbol: MEGF8
MEGF8
multiple EGF like domains 8 0.584 0.538 1.9E-05
CUI: C0152427
Disease: Polydactyly
Polydactyly
disease 0.300 strong 1.000 1 0 2012 2012