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: 80184
Gene Symbol: CEP290
CEP290
centrosomal protein 290 0.517 0.769 1.1E-60
CUI: C0152427
Disease: Polydactyly
Polydactyly
disease 0.400 limited 0 0
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: 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: 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: 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: 79848
Gene Symbol: CSPP1
CSPP1
centrosome and spindle pole associated protein 1 0.544 0.769 3.3E-29
CUI: C0152427
Disease: Polydactyly
Polydactyly
disease 0.300 None 0 0
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: 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: 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: 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: 2121
Gene Symbol: EVC
EVC
EvC ciliary complex subunit 1 0.587 0.577 3.5E-25
CUI: C0152427
Disease: Polydactyly
Polydactyly
disease 0.400 None 0 0
Entrez Id: 132884
Gene Symbol: EVC2
EVC2
EvC ciliary complex subunit 2 0.585 0.692 1.0E-34
CUI: C0152427
Disease: Polydactyly
Polydactyly
disease 0.300 None 0 0
Entrez Id: 2255
Gene Symbol: FGF10
FGF10
fibroblast growth factor 10 0.530 0.692 0.94
CUI: C0152427
Disease: Polydactyly
Polydactyly
disease 0.300 strong 0 0
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: 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: 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: 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: 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: 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: 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: 23426
Gene Symbol: GRIP1
GRIP1
glutamate receptor interacting protein 1 0.581 0.769 0.51
CUI: C0152427
Disease: Polydactyly
Polydactyly
disease 0.300 strong 1.000 1 0 2014 2014
Entrez Id: 3190
Gene Symbol: HNRNPK
HNRNPK
heterogeneous nuclear ribonucleoprotein K 0.539 0.846 1.00
CUI: C0152427
Disease: Polydactyly
Polydactyly
disease 0.310 moderate 1.000 1 0 2009 2018
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