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: 6309
Gene Symbol: SC5D
SC5D
sterol-C5-desaturase 0.641 0.577 2.6E-03
CUI: C0152427
Disease: Polydactyly
Polydactyly
disease 0.300 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: 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: 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: 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
Entrez Id: 27031
Gene Symbol: NPHP3
NPHP3
nephrocystin 3 0.597 0.654 9.8E-16
CUI: C0152427
Disease: Polydactyly
Polydactyly
disease 0.300 None 0 0
Entrez Id: 26160
Gene Symbol: IFT172
IFT172
intraflagellar transport 172 0.582 0.654 3.3E-33
CUI: C0152427
Disease: Polydactyly
Polydactyly
disease 0.300 None 0 0
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: 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: 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: 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: 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: 4038
Gene Symbol: LRP4
LRP4
LDL receptor related protein 4 0.568 0.692 1.4E-06
CUI: C0152427
Disease: Polydactyly
Polydactyly
disease 0.300 strong 0 0
Entrez Id: 57167
Gene Symbol: SALL4
SALL4
spalt like transcription factor 4 0.489 0.769 1.00
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: 65062
Gene Symbol: TMEM237
TMEM237
transmembrane protein 237 0.612 0.538 1.9E-12
CUI: C0152427
Disease: Polydactyly
Polydactyly
disease 0.300 None 0 0
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: 6926
Gene Symbol: TBX3
TBX3
T-box transcription factor 3 0.525 0.769 0.99
CUI: C0152427
Disease: Polydactyly
Polydactyly
disease 0.300 strong 0 0
Entrez Id: 51715
Gene Symbol: RAB23
RAB23
RAB23, member RAS oncogene family 0.541 0.654 5.6E-03
CUI: C0152427
Disease: Polydactyly
Polydactyly
disease 0.300 strong 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: 51524
Gene Symbol: TMEM138
TMEM138
transmembrane protein 138 0.656 0.385 4.7E-02
CUI: C0152427
Disease: Polydactyly
Polydactyly
disease 0.300 None 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: 7476
Gene Symbol: WNT7A
WNT7A
Wnt family member 7A 0.531 0.692 3.6E-02
CUI: C0152427
Disease: Polydactyly
Polydactyly
disease 0.300 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: 23322
Gene Symbol: RPGRIP1L
RPGRIP1L
RPGRIP1 like 0.534 0.769 4.1E-31
CUI: C0152427
Disease: Polydactyly
Polydactyly
disease 0.300 None 0 0