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: 10618
Gene Symbol: TGOLN2
TGOLN2
trans-golgi network protein 2 2.8E-03
CUI: C0302142
Disease: Deformity
Deformity
group 0.010 None 1.000 1 0 2017 2017
Entrez Id: 791121
Gene Symbol: SHFL1
SHFL1
Split-hand/foot malformation with long bone deficiency 1 1.000 0.038
CUI: C0302142
Disease: Deformity
Deformity
group 0.020 None 1.000 2 0 2013 2014
Entrez Id: 54543
Gene Symbol: TOMM7
TOMM7
translocase of outer mitochondrial membrane 7 1.000 0.077 9.8E-03
CUI: C0302142
Disease: Deformity
Deformity
group 0.010 None 1.000 1 0 2018 2018
Entrez Id: 791229
Gene Symbol: MACOM
MACOM
macrophthalmia, colobomatous, with microcornea 1.000 0.077
CUI: C0302142
Disease: Deformity
Deformity
group 0.010 None 1.000 1 0 2007 2007
Entrez Id: 100049542
Gene Symbol: SHFM3
SHFM3
Split-hand/foot malformation 3 0.780 0.115
CUI: C0302142
Disease: Deformity
Deformity
group 0.010 None 1.000 1 0 2006 2006
Entrez Id: 339476
Gene Symbol: ERVMER61-1
ERVMER61-1
endogenous retrovirus group MER61 member 1 0.890 0.115
CUI: C0302142
Disease: Deformity
Deformity
group 0.010 None < 0.001 1 0 2013 2013
Entrez Id: 4225
Gene Symbol: MEP1B
MEP1B
meprin A subunit beta 0.931 0.115 1.9E-24
CUI: C0302142
Disease: Deformity
Deformity
group 0.010 None 1.000 1 0 2017 2017
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: 283659
Gene Symbol: PRTG
PRTG
protogenin 0.861 0.154 1.2E-07
CUI: C0302142
Disease: Deformity
Deformity
group 0.010 None 1.000 1 0 2013 2013
Entrez Id: 5161
Gene Symbol: PDHA2
PDHA2
pyruvate dehydrogenase E1 subunit alpha 2 0.890 0.154 3.9E-09
CUI: C0302142
Disease: Deformity
Deformity
group 0.010 None 1.000 1 0 2018 2018
Entrez Id: 6543
Gene Symbol: SLC8A2
SLC8A2
solute carrier family 8 member A2 0.780 0.154 1.00
CUI: C0302142
Disease: Deformity
Deformity
group 0.010 None 1.000 1 0 2009 2009
Entrez Id: 53820
Gene Symbol: RIPPLY3
RIPPLY3
ripply transcriptional repressor 3 0.839 0.192 8.4E-02
CUI: C0302142
Disease: Deformity
Deformity
group 0.020 None 0.500 2 0 2011 2018
Entrez Id: 22824
Gene Symbol: HSPA4L
HSPA4L
heat shock protein family A (Hsp70) member 4 like 0.805 0.192 6.9E-07
CUI: C0302142
Disease: Deformity
Deformity
group 0.010 None 1.000 1 0 2019 2019
Entrez Id: 1005
Gene Symbol: CDH7
CDH7
cadherin 7 0.769 0.231 0.60
CUI: C0302142
Disease: Deformity
Deformity
group 0.010 None 1.000 1 0 2008 2008
Entrez Id: 11079
Gene Symbol: RER1
RER1
retention in endoplasmic reticulum sorting receptor 1 0.821 0.231 0.38
CUI: C0302142
Disease: Deformity
Deformity
group 0.010 None 1.000 1 0 2018 2018
Entrez Id: 85416
Gene Symbol: ZIC5
ZIC5
Zic family member 5 0.711 0.231 0.77
CUI: C0302142
Disease: Deformity
Deformity
group 0.010 None < 0.001 1 0 2004 2004
Entrez Id: 9686
Gene Symbol: VGLL4
VGLL4
vestigial like family member 4 0.716 0.231 7.3E-02
CUI: C0302142
Disease: Deformity
Deformity
group 0.010 None 1.000 1 0 2019 2019
Entrez Id: 10286
Gene Symbol: BCAS2
BCAS2
BCAS2 pre-mRNA processing factor 0.769 0.269 2.8E-08
CUI: C0302142
Disease: Deformity
Deformity
group 0.010 None 1.000 1 0 2016 2016
Entrez Id: 286204
Gene Symbol: CRB2
CRB2
crumbs cell polarity complex component 2 0.678 0.269 1.5E-14
CUI: C0302142
Disease: Deformity
Deformity
group 0.010 None 1.000 1 0 2016 2016
Entrez Id: 9807
Gene Symbol: IP6K1
IP6K1
inositol hexakisphosphate kinase 1 0.792 0.269 0.93
CUI: C0302142
Disease: Deformity
Deformity
group 0.010 None 1.000 1 0 2018 2018
Entrez Id: 23443
Gene Symbol: SLC35A3
SLC35A3
solute carrier family 35 member A3 0.716 0.308 2.6E-03
CUI: C0302142
Disease: Deformity
Deformity
group 0.020 None 1.000 2 0 2013 2017
Entrez Id: 402569
Gene Symbol: KPNA7
KPNA7
karyopherin subunit alpha 7 0.805 0.308 3.4E-15
CUI: C0302142
Disease: Deformity
Deformity
group 0.010 None 1.000 1 0 2014 2014
Entrez Id: 10300
Gene Symbol: KATNB1
KATNB1
katanin regulatory subunit B1 0.674 0.346 1.4E-05
CUI: C0302142
Disease: Deformity
Deformity
group 0.010 None 1.000 1 0 2007 2007
Entrez Id: 255758
Gene Symbol: TCTEX1D2
TCTEX1D2
Tctex1 domain containing 2 0.751 0.346 3.2E-04
CUI: C0302142
Disease: Deformity
Deformity
group 0.010 None 1.000 1 0 2017 2017
Entrez Id: 3800
Gene Symbol: KIF5C
KIF5C
kinesin family member 5C 0.686 0.346 1.00
CUI: C0302142
Disease: Deformity
Deformity
group 0.010 None 1.000 1 1 2014 2014