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: 6453
Gene Symbol: ITSN1
ITSN1
intersectin 1 0.656 0.577 1.00
CUI: C0302142
Disease: Deformity
Deformity
group 0.010 None 1.000 1 0 2017 2017
Entrez Id: 5621
Gene Symbol: PRNP
PRNP
prion protein 0.445 0.923 6.3E-04
CUI: C0302142
Disease: Deformity
Deformity
group 0.010 None 1.000 1 0 2013 2013
Entrez Id: 5617
Gene Symbol: PRL
PRL
prolactin 0.406 0.885 2.9E-07
CUI: C0302142
Disease: Deformity
Deformity
group 0.010 None 1.000 1 0 2017 2017
Entrez Id: 55997
Gene Symbol: CFC1
CFC1
cripto, FRL-1, cryptic family 1 0.588 0.577 0.11
CUI: C0302142
Disease: Deformity
Deformity
group 0.010 None 1.000 1 0 2008 2008
Entrez Id: 55906
Gene Symbol: ZC4H2
ZC4H2
zinc finger C4H2-type containing 0.561 0.731 0.91
CUI: C0302142
Disease: Deformity
Deformity
group 0.010 None 1.000 1 0 2018 2018
Entrez Id: 55902
Gene Symbol: ACSS2
ACSS2
acyl-CoA synthetase short chain family member 2 0.506 0.808 1.1E-13
CUI: C0302142
Disease: Deformity
Deformity
group 0.010 None 1.000 1 0 2019 2019
Entrez Id: 55638
Gene Symbol: SYBU
SYBU
syntabulin 0.546 0.769 9.8E-05
CUI: C0302142
Disease: Deformity
Deformity
group 0.010 None 1.000 1 0 2011 2011
Entrez Id: 55556
Gene Symbol: ENOSF1
ENOSF1
enolase superfamily member 1 0.617 0.654 9.0E-19
CUI: C0302142
Disease: Deformity
Deformity
group 0.010 None 1.000 1 0 2006 2006
Entrez Id: 55384
Gene Symbol: MEG3
MEG3
maternally expressed 3 0.471 0.846
CUI: C0302142
Disease: Deformity
Deformity
group 0.010 None 1.000 1 0 2002 2002
Entrez Id: 55349
Gene Symbol: CHDH
CHDH
choline dehydrogenase 0.529 0.769 1.7E-06
CUI: C0302142
Disease: Deformity
Deformity
group 0.010 None 1.000 1 0 2001 2001
Entrez Id: 5524
Gene Symbol: PTPA
PTPA
protein phosphatase 2 phosphatase activator 0.480 0.846 0.99
CUI: C0302142
Disease: Deformity
Deformity
group 0.010 None 1.000 1 0 2011 2011
Entrez Id: 55226
Gene Symbol: NAT10
NAT10
N-acetyltransferase 10 0.536 0.769 4.1E-22
CUI: C0302142
Disease: Deformity
Deformity
group 0.010 None 1.000 1 0 2019 2019
Entrez Id: 55177
Gene Symbol: RMDN3
RMDN3
regulator of microtubule dynamics 3 0.534 0.769 5.2E-05
CUI: C0302142
Disease: Deformity
Deformity
group 0.010 None 1.000 1 0 2011 2011
Entrez Id: 54806
Gene Symbol: AHI1
AHI1
Abelson helper integration site 1 0.513 0.846 1.1E-25
CUI: C0302142
Disease: Deformity
Deformity
group 0.010 None 1.000 1 0 2019 2019
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: 5449
Gene Symbol: POU1F1
POU1F1
POU class 1 homeobox 1 0.548 0.654 4.5E-02
CUI: C0302142
Disease: Deformity
Deformity
group 0.010 None 1.000 1 0 2015 2015
Entrez Id: 5396
Gene Symbol: PRRX1
PRRX1
paired related homeobox 1 0.543 0.769 0.24
CUI: C0302142
Disease: Deformity
Deformity
group 0.010 None 1.000 1 0 2013 2013
Entrez Id: 5354
Gene Symbol: PLP1
PLP1
proteolipid protein 1 0.543 0.769 0.93
CUI: C0302142
Disease: Deformity
Deformity
group 0.010 None 1.000 1 0 2014 2014
Entrez Id: 5626
Gene Symbol: PROP1
PROP1
PROP paired-like homeobox 1 0.576 0.615 8.8E-02
CUI: C0302142
Disease: Deformity
Deformity
group 0.010 None < 0.001 1 0 2010 2010
Entrez Id: 5648
Gene Symbol: MASP1
MASP1
mannan binding lectin serine peptidase 1 0.565 0.885 1.2E-11
CUI: C0302142
Disease: Deformity
Deformity
group 0.010 None 1.000 1 0 2010 2010
Entrez Id: 5670
Gene Symbol: PSG2
PSG2
pregnancy specific beta-1-glycoprotein 2 0.492 0.731 1.4E-30
CUI: C0302142
Disease: Deformity
Deformity
group 0.010 None 1.000 1 0 2017 2017
Entrez Id: 64220
Gene Symbol: STRA6
STRA6
signaling receptor and transporter of retinol STRA6 0.597 0.731 1.5E-10
CUI: C0302142
Disease: Deformity
Deformity
group 0.010 None 1.000 1 0 2007 2007
Entrez Id: 64093
Gene Symbol: SMOC1
SMOC1
SPARC related modular calcium binding 1 0.565 0.846 9.5E-03
CUI: C0302142
Disease: Deformity
Deformity
group 0.010 None 1.000 1 0 2019 2019
Entrez Id: 64072
Gene Symbol: CDH23
CDH23
cadherin related 23 0.539 0.769 3.2E-06
CUI: C0302142
Disease: Deformity
Deformity
group 0.010 None 1.000 1 0 2015 2015
Entrez Id: 6314
Gene Symbol: ATXN7
ATXN7
ataxin 7 0.581 0.654 0.96
CUI: C0302142
Disease: Deformity
Deformity
group 0.010 None 1.000 1 0 2019 2019