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: 57560
Gene Symbol: IFT80
IFT80
intraflagellar transport 80 0.575 0.692 1.4E-19
CUI: C0152427
Disease: Polydactyly
Polydactyly
disease 0.500 None 1.000 0 0 2007 2007
Entrez Id: 64327
Gene Symbol: LMBR1
LMBR1
limb development membrane protein 1 0.619 0.308 1.3E-08
CUI: C0152427
Disease: Polydactyly
Polydactyly
disease 0.440 strong 1.000 0 0 2001 2017
Entrez Id: 8195
Gene Symbol: MKKS
MKKS
McKusick-Kaufman syndrome 0.566 0.692 2.1E-09
CUI: C0152427
Disease: Polydactyly
Polydactyly
disease 0.430 strong 1.000 0 0 2002 2016
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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 26146
Gene Symbol: TRAF3IP1
TRAF3IP1
TRAF3 interacting protein 1 0.695 0.423 1.9E-08
CUI: C0152427
Disease: Polydactyly
Polydactyly
disease 0.300 None 0 0
Entrez Id: 6299
Gene Symbol: SALL1
SALL1
spalt like transcription factor 1 0.539 0.808 1.00
CUI: C0152427
Disease: Polydactyly
Polydactyly
disease 0.300 strong 0 0