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: 2737
Gene Symbol: GLI3
GLI3
GLI family zinc finger 3 0.436 0.846 1.00
CUI: C0152427
Disease: Polydactyly
Polydactyly
disease 0.700 strong 1.000 1 0 1999 2019
Entrez Id: 9786
Gene Symbol: KIAA0586
KIAA0586
KIAA0586 0.565 0.731 5.1E-16
CUI: C0152427
Disease: Polydactyly
Polydactyly
disease 0.510 None 1.000 1 0 2004 2015
Entrez Id: 57560
Gene Symbol: IFT80
IFT80
intraflagellar transport 80 0.575 0.692 1.4E-19
CUI: C0152427
Disease: Polydactyly
Polydactyly
disease 0.500 None 1.000 0 0 2007 2007
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: 64327
Gene Symbol: LMBR1
LMBR1
limb development membrane protein 1 0.619 0.308 1.3E-08
CUI: C0152427
Disease: Polydactyly
Polydactyly
disease 0.440 strong 1.000 0 0 2001 2017
Entrez Id: 54903
Gene Symbol: MKS1
MKS1
MKS transition zone complex subunit 1 0.505 0.769 3.4E-16
CUI: C0152427
Disease: Polydactyly
Polydactyly
disease 0.430 None 1.000 1 0 2002 2013
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: 2736
Gene Symbol: GLI2
GLI2
GLI family zinc finger 2 0.446 0.846 0.97
CUI: C0152427
Disease: Polydactyly
Polydactyly
disease 0.430 strong 1.000 1 0 2003 2019
Entrez Id: 8195
Gene Symbol: MKKS
MKKS
McKusick-Kaufman syndrome 0.566 0.692 2.1E-09
CUI: C0152427
Disease: Polydactyly
Polydactyly
disease 0.430 strong 1.000 0 0 2002 2016
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: 583
Gene Symbol: BBS2
BBS2
Bardet-Biedl syndrome 2 0.565 0.654 1.0E-17
CUI: C0152427
Disease: Polydactyly
Polydactyly
disease 0.420 strong 1.000 0 0 2005 2011
Entrez Id: 27077
Gene Symbol: B9D1
B9D1
B9 domain containing 1 0.572 0.692 2.8E-03
CUI: C0152427
Disease: Polydactyly
Polydactyly
disease 0.410 limited 1.000 1 0 2011 2014
Entrez Id: 585
Gene Symbol: BBS4
BBS4
Bardet-Biedl syndrome 4 0.647 0.615 1.5E-16
CUI: C0152427
Disease: Polydactyly
Polydactyly
disease 0.410 strong 1.000 0 0 1998 1998
Entrez Id: 79738
Gene Symbol: BBS10
BBS10
Bardet-Biedl syndrome 10 0.644 0.538 1.7E-12
CUI: C0152427
Disease: Polydactyly
Polydactyly
disease 0.410 strong 1.000 0 0 2010 2010
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: 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: 3930
Gene Symbol: LBR
LBR
lamin B receptor 0.473 0.808 0.18
CUI: C0152427
Disease: Polydactyly
Polydactyly
disease 0.400 strong 1.000 1 0 2018 2018
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: 582
Gene Symbol: BBS1
BBS1
Bardet-Biedl syndrome 1 0.593 0.692 3.4E-12
CUI: C0152427
Disease: Polydactyly
Polydactyly
disease 0.400 strong 1.000 1 0 2001 2001
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: 26123
Gene Symbol: TCTN3
TCTN3
tectonic family member 3 0.566 0.615 4.2E-12
CUI: C0152427
Disease: Polydactyly
Polydactyly
disease 0.400 None 1.000 1 0 2012 2012
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: 5290
Gene Symbol: PIK3CA
PIK3CA
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha 0.292 0.923 1.00
CUI: C0152427
Disease: Polydactyly
Polydactyly
disease 0.400 strong 1.000 1 0 2009 2009
Entrez Id: 51626
Gene Symbol: DYNC2LI1
DYNC2LI1
dynein cytoplasmic 2 light intermediate chain 1 0.601 0.500 3.2E-09
CUI: C0152427
Disease: Polydactyly
Polydactyly
disease 0.400 None 0 0
Entrez Id: 27241
Gene Symbol: BBS9
BBS9
Bardet-Biedl syndrome 9 0.615 0.577 4.2E-17
CUI: C0152427
Disease: Polydactyly
Polydactyly
disease 0.400 strong 0 0