Source: ALL

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: 31
Gene Symbol: ACACA
ACACA
acetyl-CoA carboxylase alpha 0.480 0.846 1.00
CUI: C0000846
Disease: Agenesis
Agenesis
disease 0.010 None 1.000 1 0 2018 2018
Entrez Id: 9509
Gene Symbol: ADAMTS2
ADAMTS2
ADAM metallopeptidase with thrombospondin type 1 motif 2 0.579 0.808 0.97
CUI: C0000846
Disease: Agenesis
Agenesis
disease 0.010 None 1.000 1 0 2007 2007
Entrez Id: 3899
Gene Symbol: AFF3
AFF3
AF4/FMR2 family member 3 0.623 0.692 1.00
CUI: C0000846
Disease: Agenesis
Agenesis
disease 0.010 None 1.000 1 0 2008 2008
Entrez Id: 249
Gene Symbol: ALPL
ALPL
alkaline phosphatase, biomineralization associated 0.546 0.769 3.6E-04
CUI: C0000846
Disease: Agenesis
Agenesis
disease 0.010 None 1.000 1 0 2007 2007
Entrez Id: 60529
Gene Symbol: ALX4
ALX4
ALX homeobox 4 0.560 0.692 0.36
CUI: C0000846
Disease: Agenesis
Agenesis
disease 0.010 None 1.000 1 0 2017 2017
Entrez Id: 3730
Gene Symbol: ANOS1
ANOS1
anosmin 1 0.537 0.769 1.00
CUI: C0000846
Disease: Agenesis
Agenesis
disease 0.010 None 1.000 1 0 2005 2005
Entrez Id: 84168
Gene Symbol: ANTXR1
ANTXR1
ANTXR cell adhesion molecule 1 0.584 0.731 0.99
CUI: C0000846
Disease: Agenesis
Agenesis
disease 0.010 None 1.000 1 0 2018 2018
Entrez Id: 8313
Gene Symbol: AXIN2
AXIN2
axin 2 0.507 0.692 0.57
CUI: C0000846
Disease: Agenesis
Agenesis
disease 0.100 None 1.000 16 2 2004 2019
Entrez Id: 727857
Gene Symbol: BHLHA9
BHLHA9
basic helix-loop-helix family member a9 0.644 0.269 0.30
CUI: C0000846
Disease: Agenesis
Agenesis
disease 0.010 None 1.000 1 0 2013 2013
Entrez Id: 9790
Gene Symbol: BMS1
BMS1
BMS1 ribosome biogenesis factor 0.499 0.846 1.8E-04
CUI: C0000846
Disease: Agenesis
Agenesis
disease 0.010 None 1.000 1 0 2018 2018
Entrez Id: 650
Gene Symbol: BMP2
BMP2
bone morphogenetic protein 2 0.432 0.846 0.99
CUI: C0000846
Disease: Agenesis
Agenesis
disease 0.010 None 1.000 1 2 2016 2016
Entrez Id: 652
Gene Symbol: BMP4
BMP4
bone morphogenetic protein 4 0.422 0.808 0.96
CUI: C0000846
Disease: Agenesis
Agenesis
disease 0.040 None 1.000 4 2 2012 2019
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
BRCA1 DNA repair associated 0.367 0.923 9.2E-29
CUI: C0000846
Disease: Agenesis
Agenesis
disease 0.010 None 1.000 1 0 2014 2014
Entrez Id: 7852
Gene Symbol: CXCR4
CXCR4
C-X-C motif chemokine receptor 4 0.362 0.923 1.8E-02
CUI: C0000846
Disease: Agenesis
Agenesis
disease 0.010 None 1.000 1 0 2019 2019
Entrez Id: 999
Gene Symbol: CDH1
CDH1
cadherin 1 0.401 0.808 0.15
CUI: C0000846
Disease: Agenesis
Agenesis
disease 0.010 None 1.000 1 0 2009 2009
Entrez Id: 9620
Gene Symbol: CELSR1
CELSR1
cadherin EGF LAG seven-pass G-type receptor 1 0.700 0.500 1.00
CUI: C0000846
Disease: Agenesis
Agenesis
disease 0.010 None 1.000 1 0 2012 2012
Entrez Id: 810
Gene Symbol: CALML3
CALML3
calmodulin like 3 0.621 0.500 9.1E-04
CUI: C0000846
Disease: Agenesis
Agenesis
disease 0.010 None < 0.001 1 0 2012 2012
Entrez Id: 1056
Gene Symbol: CEL
CEL
carboxyl ester lipase 0.514 0.808 1.5E-06
CUI: C0000846
Disease: Agenesis
Agenesis
disease 0.010 None 1.000 1 0 2011 2011
Entrez Id: 10370
Gene Symbol: CITED2
CITED2
Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 2 0.576 0.654 0.76
CUI: C0000846
Disease: Agenesis
Agenesis
disease 0.030 None 1.000 3 0 2005 2012
Entrez Id: 10664
Gene Symbol: CTCF
CTCF
CCCTC-binding factor 0.504 0.769 1.00
CUI: C0000846
Disease: Agenesis
Agenesis
disease 0.010 None 1.000 1 0 2019 2019
Entrez Id: 23019
Gene Symbol: CNOT1
CNOT1
CCR4-NOT transcription complex subunit 1 0.674 0.577 1.00
CUI: C0000846
Disease: Agenesis
Agenesis
disease 0.010 None 1.000 1 0 2019 2019
Entrez Id: 947
Gene Symbol: CD34
CD34
CD34 molecule 0.368 0.808 5.0E-06
CUI: C0000846
Disease: Agenesis
Agenesis
disease 0.010 None 1.000 1 0 2019 2019
Entrez Id: 55143
Gene Symbol: CDCA8
CDCA8
cell division cycle associated 8 0.659 0.500 7.2E-03
CUI: C0000846
Disease: Agenesis
Agenesis
disease 0.010 None 1.000 1 0 1994 1994
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CF transmembrane conductance regulator 0.424 0.885 2.2E-58
CUI: C0000846
Disease: Agenesis
Agenesis
disease 0.070 None 0.714 7 0 1994 2013
Entrez Id: 55349
Gene Symbol: CHDH
CHDH
choline dehydrogenase 0.529 0.769 1.7E-06
CUI: C0000846
Disease: Agenesis
Agenesis
disease 0.010 None 1.000 1 0 2011 2011