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: 55636
Gene Symbol: CHD7
CHD7
chromodomain helicase DNA binding protein 7 0.441 0.846 1.00
CUI: C0000846
Disease: Agenesis
Agenesis
disease 0.030 None 1.000 3 0 2008 2011
Entrez Id: 23406
Gene Symbol: COTL1
COTL1
coactosin like F-actin binding protein 1 0.615 0.538 3.9E-02
CUI: C0000846
Disease: Agenesis
Agenesis
disease 0.010 None < 0.001 1 0 2012 2012
Entrez Id: 1278
Gene Symbol: COL1A2
COL1A2
collagen type I alpha 2 chain 0.486 0.846 1.00
CUI: C0000846
Disease: Agenesis
Agenesis
disease 0.010 None 1.000 1 0 2012 2012
Entrez Id: 1289
Gene Symbol: COL5A1
COL5A1
collagen type V alpha 1 chain 0.536 0.769 1.00
CUI: C0000846
Disease: Agenesis
Agenesis
disease 0.010 None 1.000 1 1 2018 2018
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: 1440
Gene Symbol: CSF3
CSF3
colony stimulating factor 3 0.377 0.885 0.38
CUI: C0000846
Disease: Agenesis
Agenesis
disease 0.010 None 1.000 1 0 1998 1998
Entrez Id: 1028
Gene Symbol: CDKN1C
CDKN1C
cyclin dependent kinase inhibitor 1C 0.456 0.846 0.82
CUI: C0000846
Disease: Agenesis
Agenesis
disease 0.010 None 1.000 1 0 2015 2015
Entrez Id: 10309
Gene Symbol: CCNO
CCNO
cyclin O 0.621 0.538 3.5E-03
CUI: C0000846
Disease: Agenesis
Agenesis
disease 0.010 None 1.000 1 0 2015 2015
Entrez Id: 8048
Gene Symbol: CSRP3
CSRP3
cysteine and glycine rich protein 3 0.572 0.731 1.6E-04
CUI: C0000846
Disease: Agenesis
Agenesis
disease 0.010 None < 0.001 1 0 2012 2012
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: 10970
Gene Symbol: CKAP4
CKAP4
cytoskeleton associated protein 4 0.436 0.731 0.51
CUI: C0000846
Disease: Agenesis
Agenesis
disease 0.010 None 1.000 1 0 2008 2008
Entrez Id: 22943
Gene Symbol: DKK1
DKK1
dickkopf WNT signaling pathway inhibitor 1 0.439 0.885 0.17
CUI: C0000846
Disease: Agenesis
Agenesis
disease 0.010 None 1.000 1 1 2014 2014
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: 1856
Gene Symbol: DVL2
DVL2
dishevelled segment polarity protein 2 0.621 0.577 1.4E-05
CUI: C0000846
Disease: Agenesis
Agenesis
disease 0.010 None 1.000 1 0 2013 2013
Entrez Id: 1747
Gene Symbol: DLX3
DLX3
distal-less homeobox 3 0.601 0.692 2.6E-03
CUI: C0000846
Disease: Agenesis
Agenesis
disease 0.010 None 1.000 1 0 2007 2007
Entrez Id: 1896
Gene Symbol: EDA
EDA
ectodysplasin A 0.553 0.808 0.97
CUI: C0000846
Disease: Agenesis
Agenesis
disease 0.090 None 1.000 9 1 2008 2019
Entrez Id: 10913
Gene Symbol: EDAR
EDAR
ectodysplasin A receptor 0.623 0.423 1.3E-06
CUI: C0000846
Disease: Agenesis
Agenesis
disease 0.010 None 1.000 1 0 2013 2013
Entrez Id: 128178
Gene Symbol: EDARADD
EDARADD
EDAR associated death domain 0.638 0.462 3.2E-04
CUI: C0000846
Disease: Agenesis
Agenesis
disease 0.030 None 1.000 3 1 2012 2018
Entrez Id: 2099
Gene Symbol: ESR1
ESR1
estrogen receptor 1 0.324 0.962 1.00
CUI: C0000846
Disease: Agenesis
Agenesis
disease 0.010 None 1.000 1 0 2017 2017
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: 2138
Gene Symbol: EYA1
EYA1
EYA transcriptional coactivator and phosphatase 1 0.531 0.731 0.95
CUI: C0000846
Disease: Agenesis
Agenesis
disease 0.020 None 1.000 2 0 1994 2006
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: 2255
Gene Symbol: FGF10
FGF10
fibroblast growth factor 10 0.530 0.692 0.94
CUI: C0000846
Disease: Agenesis
Agenesis
disease 0.030 None 1.000 3 0 2009 2018
Entrez Id: 2248
Gene Symbol: FGF3
FGF3
fibroblast growth factor 3 0.505 0.808 9.3E-05
CUI: C0000846
Disease: Agenesis
Agenesis
disease 0.020 None 1.000 2 0 2007 2008
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
fibroblast growth factor receptor 1 0.362 0.885 1.00
CUI: C0000846
Disease: Agenesis
Agenesis
disease 0.030 None 1.000 3 1 2005 2014