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: 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: 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: 123016
Gene Symbol: TTC8
TTC8
tetratricopeptide repeat domain 8 0.631 0.500 1.2E-06
CUI: C0152427
Disease: Polydactyly
Polydactyly
disease 0.400 strong 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: 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: 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: 79583
Gene Symbol: TMEM231
TMEM231
transmembrane protein 231 0.554 0.692 3.1E-07
CUI: C0152427
Disease: Polydactyly
Polydactyly
disease 0.400 None 0 0
Entrez Id: 79809
Gene Symbol: TTC21B
TTC21B
tetratricopeptide repeat domain 21B 0.619 0.654 2.7E-26
CUI: C0152427
Disease: Polydactyly
Polydactyly
disease 0.400 None 0 0
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: 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: 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: 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: 5307
Gene Symbol: PITX1
PITX1
paired like homeodomain 1 0.561 0.654 0.88
CUI: C0152427
Disease: Polydactyly
Polydactyly
disease 0.330 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: 55112
Gene Symbol: WDR60
WDR60
WD repeat domain 60 0.592 0.654 4.3E-12
CUI: C0152427
Disease: Polydactyly
Polydactyly
disease 0.320 strong 1.000 1 0 2013 2018
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: 374654
Gene Symbol: KIF7
KIF7
kinesin family member 7 0.528 0.731 2.3E-22
CUI: C0152427
Disease: Polydactyly
Polydactyly
disease 0.320 None 1.000 0 0 2011 2019
Entrez Id: 56623
Gene Symbol: INPP5E
INPP5E
inositol polyphosphate-5-phosphatase E 0.561 0.615 3.1E-03
CUI: C0152427
Disease: Polydactyly
Polydactyly
disease 0.320 None 1.000 0 0 2015 2017
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: 54585
Gene Symbol: LZTFL1
LZTFL1
leucine zipper transcription factor like 1 0.638 0.692 5.9E-02
CUI: C0152427
Disease: Polydactyly
Polydactyly
disease 0.310 strong 1.000 1 0 2014 2014
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: 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: 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: 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: 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