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: 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: 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: 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: 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
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: 25852
Gene Symbol: ARMC8
ARMC8
armadillo repeat containing 8 0.716 0.346 1.00
CUI: C0152427
Disease: Polydactyly
Polydactyly
disease 0.300 limited 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: 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: 582
Gene Symbol: BBS1
BBS1
Bardet-Biedl syndrome 1 0.593 0.692 3.4E-12
CUI: C0152427
Disease: Polydactyly
Polydactyly
disease 0.400 strong 1.000 1 0 2001 2001
Entrez Id: 79738
Gene Symbol: BBS10
BBS10
Bardet-Biedl syndrome 10 0.644 0.538 1.7E-12
CUI: C0152427
Disease: Polydactyly
Polydactyly
disease 0.410 strong 1.000 0 0 2010 2010
Entrez Id: 166379
Gene Symbol: BBS12
BBS12
Bardet-Biedl syndrome 12 0.674 0.462 2.3E-07
CUI: C0152427
Disease: Polydactyly
Polydactyly
disease 0.400 strong 0 0
Entrez Id: 583
Gene Symbol: BBS2
BBS2
Bardet-Biedl syndrome 2 0.565 0.654 1.0E-17
CUI: C0152427
Disease: Polydactyly
Polydactyly
disease 0.420 strong 1.000 0 0 2005 2011
Entrez Id: 585
Gene Symbol: BBS4
BBS4
Bardet-Biedl syndrome 4 0.647 0.615 1.5E-16
CUI: C0152427
Disease: Polydactyly
Polydactyly
disease 0.410 strong 1.000 0 0 1998 1998
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: 55212
Gene Symbol: BBS7
BBS7
Bardet-Biedl syndrome 7 0.682 0.462 7.1E-09
CUI: C0152427
Disease: Polydactyly
Polydactyly
disease 0.400 strong 0 0
Entrez Id: 27241
Gene Symbol: BBS9
BBS9
Bardet-Biedl syndrome 9 0.615 0.577 4.2E-17
CUI: C0152427
Disease: Polydactyly
Polydactyly
disease 0.400 strong 0 0
Entrez Id: 727857
Gene Symbol: BHLHA9
BHLHA9
basic helix-loop-helix family member a9 0.644 0.269 0.30
CUI: C0152427
Disease: Polydactyly
Polydactyly
disease 0.420 strong 1.000 1 0 2012 2019
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: 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: 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: 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: 10225
Gene Symbol: CD96
CD96
CD96 molecule 0.592 0.692 1.4E-11
CUI: C0152427
Disease: Polydactyly
Polydactyly
disease 0.300 limited 1.000 1 0 2016 2016
Entrez Id: 1063
Gene Symbol: CENPF
CENPF
centromere protein F 0.601 0.654 1.9E-36
CUI: C0152427
Disease: Polydactyly
Polydactyly
disease 0.300 strong 0 0
Entrez Id: 153241
Gene Symbol: CEP120
CEP120
centrosomal protein 120 0.564 0.731 4.1E-15
CUI: C0152427
Disease: Polydactyly
Polydactyly
disease 0.300 None 0 0
Entrez Id: 22897
Gene Symbol: CEP164
CEP164
centrosomal protein 164 0.711 0.462 4.8E-27
CUI: C0152427
Disease: Polydactyly
Polydactyly
disease 0.300 None 0 0