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: 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: 2260
Gene Symbol: FGFR1
FGFR1
fibroblast growth factor receptor 1 0.362 0.885 1.00
CUI: C0152427
Disease: Polydactyly
Polydactyly
disease 0.300 strong 0 0
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
fibroblast growth factor receptor 2 0.380 0.808 1.00
CUI: C0152427
Disease: Polydactyly
Polydactyly
disease 0.310 strong 1.000 0 0 2005 2005
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: 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: 8842
Gene Symbol: PROM1
PROM1
prominin 1 0.410 0.846 1.9E-22
CUI: C0152427
Disease: Polydactyly
Polydactyly
disease 0.300 limited 0 0
Entrez Id: 652
Gene Symbol: BMP4
BMP4
bone morphogenetic protein 4 0.422 0.808 0.96
CUI: C0152427
Disease: Polydactyly
Polydactyly
disease 0.320 strong 1.000 1 0 2008 2011
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: 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: 6469
Gene Symbol: SHH
SHH
sonic hedgehog signaling molecule 0.461 0.846 0.98
CUI: C0152427
Disease: Polydactyly
Polydactyly
disease 0.340 limited 1.000 1 0 1998 2017
Entrez Id: 2719
Gene Symbol: GPC3
GPC3
glypican 3 0.466 0.808 1.00
CUI: C0152427
Disease: Polydactyly
Polydactyly
disease 0.300 strong 1.000 1 0 2000 2000
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: 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: 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: 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: 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: 57167
Gene Symbol: SALL4
SALL4
spalt like transcription factor 4 0.489 0.769 1.00
CUI: C0152427
Disease: Polydactyly
Polydactyly
disease 0.300 strong 0 0
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: 8239
Gene Symbol: USP9X
USP9X
ubiquitin specific peptidase 9 X-linked 0.502 0.846 1.00
CUI: C0152427
Disease: Polydactyly
Polydactyly
disease 0.300 strong 1.000 1 0 2016 2016
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: 8481
Gene Symbol: OFD1
OFD1
OFD1 centriole and centriolar satellite protein 0.510 0.808 0.96
CUI: C0152427
Disease: Polydactyly
Polydactyly
disease 0.400 None 0 0
Entrez Id: 8200
Gene Symbol: GDF5
GDF5
growth differentiation factor 5 0.511 0.692 0.67
CUI: C0152427
Disease: Polydactyly
Polydactyly
disease 0.400 strong 0 0
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: 91147
Gene Symbol: TMEM67
TMEM67
transmembrane protein 67 0.512 0.769 2.1E-24
CUI: C0152427
Disease: Polydactyly
Polydactyly
disease 0.320 strong 1.000 0 0 2002 2007
Entrez Id: 51360
Gene Symbol: MBTPS2
MBTPS2
membrane bound transcription factor peptidase, site 2 0.513 0.769 1.00
CUI: C0152427
Disease: Polydactyly
Polydactyly
disease 0.300 limited 1.000 1 0 1997 1997