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: 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: 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: 4807
Gene Symbol: NHLH1
NHLH1
nescient helix-loop-helix 1 0.686 0.538 0.26
CUI: C0302142
Disease: Deformity
Deformity
group 0.070 None 1.000 7 0 2012 2019
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: 668
Gene Symbol: FOXL2
FOXL2
forkhead box L2 0.542 0.692 0.88
CUI: C0302142
Disease: Deformity
Deformity
group 0.060 None 1.000 6 0 2003 2018
Entrez Id: 55636
Gene Symbol: CHD7
CHD7
chromodomain helicase DNA binding protein 7 0.441 0.846 1.00
CUI: C0302142
Disease: Deformity
Deformity
group 0.050 None 1.000 5 0 2012 2016
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: 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: 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: 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: 1947
Gene Symbol: EFNB1
EFNB1
ephrin B1 0.561 0.769 0.93
CUI: C0302142
Disease: Deformity
Deformity
group 0.040 None 1.000 4 0 2007 2011
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: 60
Gene Symbol: ACTB
ACTB
actin beta 0.325 0.923 0.99
CUI: C0302142
Disease: Deformity
Deformity
group 0.040 None 1.000 4 0 2012 2018
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: 2248
Gene Symbol: FGF3
FGF3
fibroblast growth factor 3 0.505 0.808 9.3E-05
CUI: C0302142
Disease: Deformity
Deformity
group 0.030 None 0.667 3 0 2007 2010
Entrez Id: 4281
Gene Symbol: MID1
MID1
midline 1 0.621 0.654 0.98
CUI: C0302142
Disease: Deformity
Deformity
group 0.030 None 1.000 3 0 2007 2018
Entrez Id: 170474
Gene Symbol: HFM
HFM
Hemifacial microsomia 0.722 0.385
CUI: C0302142
Disease: Deformity
Deformity
group 0.030 None 1.000 3 0 2001 2019
Entrez Id: 6928
Gene Symbol: HNF1B
HNF1B
HNF1 homeobox B 0.473 0.808 1.00
CUI: C0302142
Disease: Deformity
Deformity
group 0.030 None 1.000 3 0 2004 2018
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
methylenetetrahydrofolate reductase 0.337 0.885 3.2E-10
CUI: C0302142
Disease: Deformity
Deformity
group 0.030 None 1.000 3 2 2004 2018
Entrez Id: 2316
Gene Symbol: FLNA
FLNA
filamin A 0.419 0.846 1.00
CUI: C0302142
Disease: Deformity
Deformity
group 0.030 None 1.000 3 0 2008 2013
Entrez Id: 5649
Gene Symbol: RELN
RELN
reelin 0.515 0.731 1.00
CUI: C0302142
Disease: Deformity
Deformity
group 0.030 None 1.000 3 0 2005 2018
Entrez Id: 90
Gene Symbol: ACVR1
ACVR1
activin A receptor type 1 0.535 0.731 0.33
CUI: C0302142
Disease: Deformity
Deformity
group 0.030 None 1.000 3 0 2017 2020
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
gap junction protein beta 2 0.441 0.846 6.6E-16
CUI: C0302142
Disease: Deformity
Deformity
group 0.030 None 1.000 3 0 2012 2020
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
phosphatase and tensin homolog 0.305 0.923 0.26
CUI: C0302142
Disease: Deformity
Deformity
group 0.030 None 1.000 3 1 2007 2019
Entrez Id: 9289
Gene Symbol: ADGRG1
ADGRG1
adhesion G protein-coupled receptor G1 0.590 0.654 5.3E-10
CUI: C0302142
Disease: Deformity
Deformity
group 0.030 None 1.000 3 0 2008 2017