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: 1776
Gene Symbol: DNASE1L3
DNASE1L3
deoxyribonuclease 1 like 3 0.575 0.769 3.0E-05
CUI: C0302142
Disease: Deformity
Deformity
group 0.010 None 1.000 1 0 1971 1971
Entrez Id: 50964
Gene Symbol: SOST
SOST
sclerostin 0.474 0.808 0.87
CUI: C0302142
Disease: Deformity
Deformity
group 0.010 None 1.000 1 0 1976 1976
Entrez Id: 257
Gene Symbol: ALX3
ALX3
ALX homeobox 3 0.578 0.692 1.9E-02
CUI: C0302142
Disease: Deformity
Deformity
group 0.020 None 1.000 2 0 1980 2014
Entrez Id: 7008
Gene Symbol: TEF
TEF
TEF transcription factor, PAR bZIP family member 0.686 0.538 0.63
CUI: C0302142
Disease: Deformity
Deformity
group 0.010 None 1.000 1 0 1984 1984
Entrez Id: 1717
Gene Symbol: DHCR7
DHCR7
7-dehydrocholesterol reductase 0.500 0.846 3.9E-13
CUI: C0302142
Disease: Deformity
Deformity
group 0.100 None 1.000 14 0 1994 2020
Entrez Id: 7490
Gene Symbol: WT1
WT1
WT1 transcription factor 0.422 0.808 1.00
CUI: C0302142
Disease: Deformity
Deformity
group 0.020 None 1.000 2 0 1995 2001
Entrez Id: 2252
Gene Symbol: FGF7
FGF7
fibroblast growth factor 7 0.519 0.846 0.77
CUI: C0302142
Disease: Deformity
Deformity
group 0.010 None 1.000 1 0 1995 1995
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
fibroblast growth factor receptor 3 0.391 0.846 1.6E-05
CUI: C0302142
Disease: Deformity
Deformity
group 0.020 None 1.000 2 0 1996 2005
Entrez Id: 6899
Gene Symbol: TBX1
TBX1
T-box transcription factor 1 0.433 0.808 0.84
CUI: C0302142
Disease: Deformity
Deformity
group 0.020 None 1.000 2 0 1996 1996
Entrez Id: 6910
Gene Symbol: TBX5
TBX5
T-box transcription factor 5 0.528 0.769 1.00
CUI: C0302142
Disease: Deformity
Deformity
group 0.040 None 0.750 4 0 1997 2009
Entrez Id: 8481
Gene Symbol: OFD1
OFD1
OFD1 centriole and centriolar satellite protein 0.510 0.808 0.96
CUI: C0302142
Disease: Deformity
Deformity
group 0.030 None 1.000 3 0 1998 2013
Entrez Id: 4964
Gene Symbol: OFC2
OFC2
orofacial cleft 2 0.931 0.115
CUI: C0302142
Disease: Deformity
Deformity
group 0.010 None 1.000 1 0 1998 1998
Entrez Id: 5048
Gene Symbol: PAFAH1B1
PAFAH1B1
platelet activating factor acetylhydrolase 1b regulatory subunit 1 0.504 0.769 1.00
CUI: C0302142
Disease: Deformity
Deformity
group 0.080 None 1.000 8 0 1999 2009
Entrez Id: 5080
Gene Symbol: PAX6
PAX6
paired box 6 0.450 0.769 1.00
CUI: C0302142
Disease: Deformity
Deformity
group 0.070 None 1.000 7 0 1999 2019
Entrez Id: 1641
Gene Symbol: DCX
DCX
doublecortin 0.511 0.769 0.30
CUI: C0302142
Disease: Deformity
Deformity
group 0.040 None 1.000 4 0 1999 2019
Entrez Id: 5076
Gene Symbol: PAX2
PAX2
paired box 2 0.495 0.731 0.67
CUI: C0302142
Disease: Deformity
Deformity
group 0.040 None 1.000 4 0 1999 2011
Entrez Id: 4867
Gene Symbol: NPHP1
NPHP1
nephrocystin 1 0.572 0.731 1.2E-17
CUI: C0302142
Disease: Deformity
Deformity
group 0.020 None 1.000 2 0 1999 2006
Entrez Id: 596
Gene Symbol: BCL2
BCL2
BCL2 apoptosis regulator 0.291 0.885 0.56
CUI: C0302142
Disease: Deformity
Deformity
group 0.010 None 1.000 1 0 1999 1999
Entrez Id: 93
Gene Symbol: ACVR2B
ACVR2B
activin A receptor type 2B 0.601 0.615 0.83
CUI: C0302142
Disease: Deformity
Deformity
group 0.010 None 1.000 1 0 1999 1999
Entrez Id: 10085
Gene Symbol: EDIL3
EDIL3
EGF like repeats and discoidin domains 3 0.564 0.769 1.5E-04
CUI: C0302142
Disease: Deformity
Deformity
group 0.010 None 1.000 1 0 1999 1999
Entrez Id: 30010
Gene Symbol: NXPH1
NXPH1
neurexophilin 1 0.711 0.385 0.48
CUI: C0302142
Disease: Deformity
Deformity
group 0.010 None 1.000 1 0 1999 1999
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4
solute carrier family 26 member 4 0.507 0.885 9.0E-22
CUI: C0302142
Disease: Deformity
Deformity
group 0.050 None 1.000 5 0 2000 2020
Entrez Id: 3239
Gene Symbol: HOXD13
HOXD13
homeobox D13 0.483 0.808 8.6E-03
CUI: C0302142
Disease: Deformity
Deformity
group 0.040 None 0.750 4 0 2000 2019
Entrez Id: 7546
Gene Symbol: ZIC2
ZIC2
Zic family member 2 0.556 0.769 0.97
CUI: C0302142
Disease: Deformity
Deformity
group 0.020 None 1.000 2 0 2000 2001
Entrez Id: 9510
Gene Symbol: ADAMTS1
ADAMTS1
ADAM metallopeptidase with thrombospondin type 1 motif 1 0.555 0.654 0.72
CUI: C0302142
Disease: Deformity
Deformity
group 0.010 None 1.000 1 0 2000 2000