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: 84680
Gene Symbol: ACCS
ACCS
1-aminocyclopropane-1-carboxylate synthase homolog (inactive) 0.522 0.731 9.0E-07
CUI: C0302142
Disease: Deformity
Deformity
group 0.010 None 1.000 1 0 2019 2019
Entrez Id: 1718
Gene Symbol: DHCR24
DHCR24
24-dehydrocholesterol reductase 0.498 0.769 3.1E-02
CUI: C0302142
Disease: Deformity
Deformity
group 0.010 None 1.000 1 0 2017 2017
Entrez Id: 4548
Gene Symbol: MTR
MTR
5-methyltetrahydrofolate-homocysteine methyltransferase 0.482 0.808 2.4E-12
CUI: C0302142
Disease: Deformity
Deformity
group 0.010 None 1.000 1 1 2018 2018
Entrez Id: 4552
Gene Symbol: MTRR
MTRR
5-methyltetrahydrofolate-homocysteine methyltransferase reductase 0.502 0.808 2.2E-14
CUI: C0302142
Disease: Deformity
Deformity
group 0.010 None 1.000 1 1 2018 2018
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: 9590
Gene Symbol: AKAP12
AKAP12
A-kinase anchoring protein 12 0.566 0.615 3.6E-02
CUI: C0302142
Disease: Deformity
Deformity
group 0.010 None 1.000 1 0 2019 2019
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: 51099
Gene Symbol: ABHD5
ABHD5
abhydrolase domain containing 5 0.641 0.538 6.4E-07
CUI: C0302142
Disease: Deformity
Deformity
group 0.010 None 1.000 1 0 2003 2003
Entrez Id: 259266
Gene Symbol: ASPM
ASPM
abnormal spindle microtubule assembly 0.526 0.769 3.4E-49
CUI: C0302142
Disease: Deformity
Deformity
group 0.010 None 1.000 1 0 2005 2005
Entrez Id: 43
Gene Symbol: ACHE
ACHE
acetylcholinesterase (Cartwright blood group) 0.445 0.885 1.00
CUI: C0302142
Disease: Deformity
Deformity
group 0.010 None 1.000 1 0 2017 2017
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: 71
Gene Symbol: ACTG1
ACTG1
actin gamma 1 0.477 0.846 4.8E-03
CUI: C0302142
Disease: Deformity
Deformity
group 0.020 None 1.000 2 0 2015 2019
Entrez Id: 467
Gene Symbol: ATF3
ATF3
activating transcription factor 3 0.494 0.885 8.9E-02
CUI: C0302142
Disease: Deformity
Deformity
group 0.010 None 1.000 1 0 2010 2010
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: 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: 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: 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
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
Entrez Id: 10564
Gene Symbol: ARFGEF2
ARFGEF2
ADP ribosylation factor guanine nucleotide exchange factor 2 0.659 0.462 1.00
CUI: C0302142
Disease: Deformity
Deformity
group 0.010 None 1.000 1 0 2013 2013
Entrez Id: 200894
Gene Symbol: ARL13B
ARL13B
ADP ribosylation factor like GTPase 13B 0.631 0.538 2.7E-09
CUI: C0302142
Disease: Deformity
Deformity
group 0.010 None 1.000 1 0 2009 2009
Entrez Id: 207
Gene Symbol: AKT1
AKT1
AKT serine/threonine kinase 1 0.311 0.962 0.98
CUI: C0302142
Disease: Deformity
Deformity
group 0.010 None 1.000 1 0 2018 2018
Entrez Id: 10000
Gene Symbol: AKT3
AKT3
AKT serine/threonine kinase 3 0.512 0.808 1.00
CUI: C0302142
Disease: Deformity
Deformity
group 0.010 None 1.000 1 1 2019 2019
Entrez Id: 250
Gene Symbol: ALPP
ALPP
alkaline phosphatase, placental 0.487 0.808 1.8E-13
CUI: C0302142
Disease: Deformity
Deformity
group 0.010 None 1.000 1 0 2019 2019
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: 285
Gene Symbol: ANGPT2
ANGPT2
angiopoietin 2 0.410 0.846 0.83
CUI: C0302142
Disease: Deformity
Deformity
group 0.010 None 1.000 1 0 2000 2000