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: 4322
Gene Symbol: MMP13
MMP13
matrix metallopeptidase 13 0.452 0.923 7.9E-18
CUI: C0000846
Disease: Agenesis
Agenesis
disease 0.010 None 1.000 1 1 2013 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
Entrez Id: 55638
Gene Symbol: SYBU
SYBU
syntabulin 0.546 0.769 9.8E-05
CUI: C0000846
Disease: Agenesis
Agenesis
disease 0.010 None 1.000 1 0 2008 2008
Entrez Id: 55695
Gene Symbol: NSUN5
NSUN5
NOP2/Sun RNA methyltransferase 5 0.663 0.423 8.2E-13
CUI: C0000846
Disease: Agenesis
Agenesis
disease 0.010 None 1.000 1 0 2019 2019
Entrez Id: 56956
Gene Symbol: LHX9
LHX9
LIM homeobox 9 0.805 0.231 0.98
CUI: C0000846
Disease: Agenesis
Agenesis
disease 0.010 None 1.000 1 0 2001 2001
Entrez Id: 57165
Gene Symbol: GJC2
GJC2
gap junction protein gamma 2 0.593 0.692 1.0E-02
CUI: C0000846
Disease: Agenesis
Agenesis
disease 0.010 None 1.000 1 0 2012 2012
Entrez Id: 57167
Gene Symbol: SALL4
SALL4
spalt like transcription factor 4 0.489 0.769 1.00
CUI: C0000846
Disease: Agenesis
Agenesis
disease 0.010 None 1.000 1 0 2015 2015
Entrez Id: 5979
Gene Symbol: RET
RET
ret proto-oncogene 0.392 0.885 1.00
CUI: C0000846
Disease: Agenesis
Agenesis
disease 0.010 None 1.000 1 0 1997 1997
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: 60674
Gene Symbol: GAS5
GAS5
growth arrest specific 5 0.497 0.808
CUI: C0000846
Disease: Agenesis
Agenesis
disease 0.010 None 1.000 1 0 2017 2017
Entrez Id: 60675
Gene Symbol: PROK2
PROK2
prokineticin 2 0.555 0.769 1.4E-02
CUI: C0000846
Disease: Agenesis
Agenesis
disease 0.010 None 1.000 1 0 2010 2010
Entrez Id: 6121
Gene Symbol: RPE65
RPE65
retinoid isomerohydrolase RPE65 0.417 0.808 6.5E-14
CUI: C0000846
Disease: Agenesis
Agenesis
disease 0.010 None 1.000 1 0 2008 2008
Entrez Id: 64093
Gene Symbol: SMOC1
SMOC1
SPARC related modular calcium binding 1 0.565 0.846 9.5E-03
CUI: C0000846
Disease: Agenesis
Agenesis
disease 0.010 None 1.000 1 0 2011 2011
Entrez Id: 6495
Gene Symbol: SIX1
SIX1
SIX homeobox 1 0.496 0.692 0.65
CUI: C0000846
Disease: Agenesis
Agenesis
disease 0.010 None 1.000 1 0 2014 2014
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: 6657
Gene Symbol: SOX2
SOX2
SRY-box transcription factor 2 0.405 0.808 0.71
CUI: C0000846
Disease: Agenesis
Agenesis
disease 0.010 None 1.000 1 0 2018 2018
Entrez Id: 55177
Gene Symbol: RMDN3
RMDN3
regulator of microtubule dynamics 3 0.534 0.769 5.2E-05
CUI: C0000846
Disease: Agenesis
Agenesis
disease 0.010 None 1.000 1 0 2008 2008
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: 54757
Gene Symbol: FAM20A
FAM20A
FAM20A golgi associated secretory pathway pseudokinase 0.700 0.346 2.2E-07
CUI: C0000846
Disease: Agenesis
Agenesis
disease 0.010 None 1.000 1 0 2019 2019
Entrez Id: 4488
Gene Symbol: MSX2
MSX2
msh homeobox 2 0.539 0.769 0.26
CUI: C0000846
Disease: Agenesis
Agenesis
disease 0.010 None 1.000 1 0 2013 2013
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
mutY DNA glycosylase 0.521 0.769 1.3E-18
CUI: C0000846
Disease: Agenesis
Agenesis
disease 0.010 None 1.000 1 0 2006 2006
Entrez Id: 4646
Gene Symbol: MYO6
MYO6
myosin VI 0.631 0.731 2.4E-05
CUI: C0000846
Disease: Agenesis
Agenesis
disease 0.010 None 1.000 1 0 2020 2020
Entrez Id: 5015
Gene Symbol: OTX2
OTX2
orthodenticle homeobox 2 0.514 0.808 0.92
CUI: C0000846
Disease: Agenesis
Agenesis
disease 0.010 None 1.000 1 0 2016 2016
Entrez Id: 5021
Gene Symbol: OXTR
OXTR
oxytocin receptor 0.541 0.769 7.1E-04
CUI: C0000846
Disease: Agenesis
Agenesis
disease 0.010 None 1.000 1 0 2017 2017
Entrez Id: 5048
Gene Symbol: PAFAH1B1
PAFAH1B1
platelet activating factor acetylhydrolase 1b regulatory subunit 1 0.504 0.769 1.00
CUI: C0000846
Disease: Agenesis
Agenesis
disease 0.010 None 1.000 1 0 2018 2018