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: 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: 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: 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: 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: 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: 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: 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
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: 50945
Gene Symbol: TBX22
TBX22
T-box transcription factor 22 0.603 0.577 0.98
CUI: C0152427
Disease: Polydactyly
Polydactyly
disease 0.300 limited 1.000 1 0 2013 2013
Entrez Id: 341640
Gene Symbol: FREM2
FREM2
FRAS1 related extracellular matrix 2 0.566 0.577 3.6E-11
CUI: C0152427
Disease: Polydactyly
Polydactyly
disease 0.300 strong 1.000 1 0 2005 2005
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: 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: 64840
Gene Symbol: PORCN
PORCN
porcupine O-acyltransferase 0.545 0.692 1.00
CUI: C0152427
Disease: Polydactyly
Polydactyly
disease 0.300 strong 1.000 1 0 2009 2009
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: 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: 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: 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: 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: 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: 80144
Gene Symbol: FRAS1
FRAS1
Fraser extracellular matrix complex subunit 1 0.560 0.577 3.1E-45
CUI: C0152427
Disease: Polydactyly
Polydactyly
disease 0.300 strong 1.000 1 0 2006 2006
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: 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: 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: 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: 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