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: 9077
Gene Symbol: DIRAS3
DIRAS3
DIRAS family GTPase 3 0.631 0.385
CUI: C0000846
Disease: Agenesis
Agenesis
disease 0.020 None 1.000 2 0 2008 2011
Entrez Id: 100996949
Gene Symbol: PDA1
PDA1
Patent ductus arteriosus, susceptibility to 0.890 0.077
CUI: C0000846
Disease: Agenesis
Agenesis
disease 0.010 None 1.000 1 0 2017 2017
Entrez Id: 407006
Gene Symbol: MIR221
MIR221
microRNA 221 0.449 0.846
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: 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: 3909
Gene Symbol: LAMA3
LAMA3
laminin subunit alpha 3 0.576 0.731 8.8E-46
CUI: C0000846
Disease: Agenesis
Agenesis
disease 0.010 None 1.000 1 0 2018 2018
Entrez Id: 132884
Gene Symbol: EVC2
EVC2
EvC ciliary complex subunit 2 0.585 0.692 1.0E-34
CUI: C0000846
Disease: Agenesis
Agenesis
disease 0.010 None 1.000 1 2 2019 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: 1308
Gene Symbol: COL17A1
COL17A1
collagen type XVII alpha 1 chain 0.545 0.769 2.3E-27
CUI: C0000846
Disease: Agenesis
Agenesis
disease 0.010 None 1.000 1 0 2018 2018
Entrez Id: 91147
Gene Symbol: TMEM67
TMEM67
transmembrane protein 67 0.512 0.769 2.1E-24
CUI: C0000846
Disease: Agenesis
Agenesis
disease 0.010 None 1.000 1 0 2009 2009
Entrez Id: 151393
Gene Symbol: RMDN2
RMDN2
regulator of microtubule dynamics 2 0.531 0.769 4.4E-24
CUI: C0000846
Disease: Agenesis
Agenesis
disease 0.010 None 1.000 1 0 2008 2008
Entrez Id: 133060
Gene Symbol: OTOP1
OTOP1
otopetrin 1 1.000 4.8E-24
CUI: C0000846
Disease: Agenesis
Agenesis
disease 0.010 None 1.000 1 0 2003 2003
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4
solute carrier family 26 member 4 0.507 0.885 9.0E-22
CUI: C0000846
Disease: Agenesis
Agenesis
disease 0.010 None 1.000 1 0 2007 2007
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: 4312
Gene Symbol: MMP1
MMP1
matrix metallopeptidase 1 0.385 0.885 7.7E-18
CUI: C0000846
Disease: Agenesis
Agenesis
disease 0.010 None 1.000 1 0 2011 2011
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: 4318
Gene Symbol: MMP9
MMP9
matrix metallopeptidase 9 0.305 0.923 1.9E-17
CUI: C0000846
Disease: Agenesis
Agenesis
disease 0.010 None 1.000 1 1 2013 2013
Entrez Id: 9313
Gene Symbol: MMP20
MMP20
matrix metallopeptidase 20 0.663 0.538 6.1E-14
CUI: C0000846
Disease: Agenesis
Agenesis
disease 0.020 None 1.000 2 0 2011 2016
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: 7270
Gene Symbol: TTF1
TTF1
transcription termination factor 1 0.537 0.500 6.2E-13
CUI: C0000846
Disease: Agenesis
Agenesis
disease 0.010 None 1.000 1 0 2010 2010
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: 2492
Gene Symbol: FSHR
FSHR
follicle stimulating hormone receptor 0.539 0.654 1.4E-11
CUI: C0000846
Disease: Agenesis
Agenesis
disease 0.010 None 1.000 1 0 2001 2001
Entrez Id: 1592
Gene Symbol: CYP26A1
CYP26A1
cytochrome P450 family 26 subfamily A member 1 0.619 0.577 8.4E-11
CUI: C0000846
Disease: Agenesis
Agenesis
disease 0.010 None 1.000 1 0 2006 2006
Entrez Id: 8115
Gene Symbol: TCL1A
TCL1A
T cell leukemia/lymphoma 1A 0.558 0.500 5.7E-10
CUI: C0000846
Disease: Agenesis
Agenesis
disease 0.010 None 1.000 1 0 1996 1996
Entrez Id: 51115
Gene Symbol: RMDN1
RMDN1
regulator of microtubule dynamics 1 0.546 0.769 5.9E-10
CUI: C0000846
Disease: Agenesis
Agenesis
disease 0.010 None 1.000 1 0 2008 2008