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: 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: 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: 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: 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: 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: 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: 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: 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: 57545
Gene Symbol: CC2D2A
CC2D2A
coiled-coil and C2 domain containing 2A 0.532 0.692 1.7E-27
CUI: C0152427
Disease: Polydactyly
Polydactyly
disease 0.300 None 1.000 1 0 2012 2012
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: 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: 8241
Gene Symbol: RBM10
RBM10
RNA binding motif protein 10 0.599 0.615 1.00
CUI: C0152427
Disease: Polydactyly
Polydactyly
disease 0.300 None 1.000 1 0 2014 2014
Entrez Id: 54806
Gene Symbol: AHI1
AHI1
Abelson helper integration site 1 0.513 0.846 1.1E-25
CUI: C0152427
Disease: Polydactyly
Polydactyly
disease 0.300 None 1.000 1 0 1992 1992
Entrez Id: 4750
Gene Symbol: NEK1
NEK1
NIMA related kinase 1 0.575 0.769 1.9E-25
CUI: C0152427
Disease: Polydactyly
Polydactyly
disease 0.310 None 1.000 1 0 2011 2012
Entrez Id: 51524
Gene Symbol: TMEM138
TMEM138
transmembrane protein 138 0.656 0.385 4.7E-02
CUI: C0152427
Disease: Polydactyly
Polydactyly
disease 0.300 None 0 0
Entrez Id: 26005
Gene Symbol: C2CD3
C2CD3
C2 domain containing 3 centriole elongation regulator 0.636 0.538 4.4E-19
CUI: C0152427
Disease: Polydactyly
Polydactyly
disease 0.300 None 0 0
Entrez Id: 65250
Gene Symbol: CPLANE1
CPLANE1
ciliogenesis and planar polarity effector 1 0.575 0.692 5.9E-36
CUI: C0152427
Disease: Polydactyly
Polydactyly
disease 0.300 None 0 0
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: 26146
Gene Symbol: TRAF3IP1
TRAF3IP1
TRAF3 interacting protein 1 0.695 0.423 1.9E-08
CUI: C0152427
Disease: Polydactyly
Polydactyly
disease 0.300 None 0 0
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: 26160
Gene Symbol: IFT172
IFT172
intraflagellar transport 172 0.582 0.654 3.3E-33
CUI: C0152427
Disease: Polydactyly
Polydactyly
disease 0.300 None 0 0
Entrez Id: 27031
Gene Symbol: NPHP3
NPHP3
nephrocystin 3 0.597 0.654 9.8E-16
CUI: C0152427
Disease: Polydactyly
Polydactyly
disease 0.300 None 0 0
Entrez Id: 65062
Gene Symbol: TMEM237
TMEM237
transmembrane protein 237 0.612 0.538 1.9E-12
CUI: C0152427
Disease: Polydactyly
Polydactyly
disease 0.300 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: 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