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: 123016
Gene Symbol: TTC8
TTC8
tetratricopeptide repeat domain 8 0.631 0.500 1.2E-06
CUI: C0152427
Disease: Polydactyly
Polydactyly
disease 0.400 strong 0 0
Entrez Id: 4038
Gene Symbol: LRP4
LRP4
LDL receptor related protein 4 0.568 0.692 1.4E-06
CUI: C0152427
Disease: Polydactyly
Polydactyly
disease 0.300 strong 0 0
Entrez Id: 51098
Gene Symbol: IFT52
IFT52
intraflagellar transport 52 0.653 0.538 2.0E-06
CUI: C0152427
Disease: Polydactyly
Polydactyly
disease 0.300 None 1.000 1 0 2016 2016
Entrez Id: 95681
Gene Symbol: CEP41
CEP41
centrosomal protein 41 0.636 0.500 3.6E-06
CUI: C0152427
Disease: Polydactyly
Polydactyly
disease 0.400 None 0 0
Entrez Id: 129880
Gene Symbol: BBS5
BBS5
Bardet-Biedl syndrome 5 0.659 0.577 4.8E-06
CUI: C0152427
Disease: Polydactyly
Polydactyly
disease 0.300 strong 0 0
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: 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: 2261
Gene Symbol: FGFR3
FGFR3
fibroblast growth factor receptor 3 0.391 0.846 1.6E-05
CUI: C0152427
Disease: Polydactyly
Polydactyly
disease 0.300 strong 0 0
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
Entrez Id: 80776
Gene Symbol: B9D2
B9D2
B9 domain containing 2 0.606 0.577 5.3E-05
CUI: C0152427
Disease: Polydactyly
Polydactyly
disease 0.300 None 1.000 1 0 2015 2015
Entrez Id: 150468
Gene Symbol: CKAP2L
CKAP2L
cytoskeleton associated protein 2 like 0.666 0.577 1.6E-04
CUI: C0152427
Disease: Polydactyly
Polydactyly
disease 0.300 strong 1.000 1 0 2014 2014
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: 10653
Gene Symbol: SPINT2
SPINT2
serine peptidase inhibitor, Kunitz type 2 0.556 0.808 7.5E-04
CUI: C0152427
Disease: Polydactyly
Polydactyly
disease 0.300 moderate 1.000 1 0 2007 2007
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: 51259
Gene Symbol: TMEM216
TMEM216
transmembrane protein 216 0.544 0.615 1.9E-03
CUI: C0152427
Disease: Polydactyly
Polydactyly
disease 0.400 None 0 0
Entrez Id: 6309
Gene Symbol: SC5D
SC5D
sterol-C5-desaturase 0.641 0.577 2.6E-03
CUI: C0152427
Disease: Polydactyly
Polydactyly
disease 0.300 None 0 0
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: 56623
Gene Symbol: INPP5E
INPP5E
inositol polyphosphate-5-phosphatase E 0.561 0.615 3.1E-03
CUI: C0152427
Disease: Polydactyly
Polydactyly
disease 0.320 None 1.000 0 0 2015 2017
Entrez Id: 51715
Gene Symbol: RAB23
RAB23
RAB23, member RAS oncogene family 0.541 0.654 5.6E-03
CUI: C0152427
Disease: Polydactyly
Polydactyly
disease 0.300 strong 0 0
Entrez Id: 5147
Gene Symbol: PDE6D
PDE6D
phosphodiesterase 6D 0.623 0.577 6.4E-03
CUI: C0152427
Disease: Polydactyly
Polydactyly
disease 0.300 moderate 1.000 1 0 2014 2014
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: 64093
Gene Symbol: SMOC1
SMOC1
SPARC related modular calcium binding 1 0.565 0.846 9.5E-03
CUI: C0152427
Disease: Polydactyly
Polydactyly
disease 0.300 strong 1.000 1 0 2011 2011
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: 5296
Gene Symbol: PIK3R2
PIK3R2
phosphoinositide-3-kinase regulatory subunit 2 0.551 0.808 1.6E-02
CUI: C0152427
Disease: Polydactyly
Polydactyly
disease 0.300 strong 1.000 1 0 2015 2015
Entrez Id: 257
Gene Symbol: ALX3
ALX3
ALX homeobox 3 0.578 0.692 1.9E-02
CUI: C0152427
Disease: Polydactyly
Polydactyly
disease 0.300 limited 0 0