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: 7157
Gene Symbol: TP53
TP53
tumor protein p53 0.236 0.962 0.53
CUI: C0013336
Disease: Dwarfism
Dwarfism
disease 0.120 None 1.000 2 1 2001 2005
Entrez Id: 7040
Gene Symbol: TGFB1
TGFB1
transforming growth factor beta 1 0.287 0.962 3.7E-02
CUI: C0013336
Disease: Dwarfism
Dwarfism
disease 0.010 None 1.000 1 0 1996 1996
Entrez Id: 596
Gene Symbol: BCL2
BCL2
BCL2 apoptosis regulator 0.291 0.885 0.56
CUI: C0013336
Disease: Dwarfism
Dwarfism
disease 0.010 None 1.000 1 0 2003 2003
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha 0.292 0.923 1.00
CUI: C0013336
Disease: Dwarfism
Dwarfism
disease 0.100 None 0 0
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
cyclin dependent kinase inhibitor 2A 0.300 0.885 0.39
CUI: C0013336
Disease: Dwarfism
Dwarfism
disease 0.010 None 1.000 1 0 2001 2001
Entrez Id: 4318
Gene Symbol: MMP9
MMP9
matrix metallopeptidase 9 0.305 0.923 1.9E-17
CUI: C0013336
Disease: Dwarfism
Dwarfism
disease 0.100 None 0 0
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
phosphatase and tensin homolog 0.305 0.923 0.26
CUI: C0013336
Disease: Dwarfism
Dwarfism
disease 0.100 None 0 0
Entrez Id: 207
Gene Symbol: AKT1
AKT1
AKT serine/threonine kinase 1 0.311 0.962 0.98
CUI: C0013336
Disease: Dwarfism
Dwarfism
disease 0.100 None 0 0
Entrez Id: 3479
Gene Symbol: IGF1
IGF1
insulin like growth factor 1 0.318 0.885 0.27
CUI: C0013336
Disease: Dwarfism
Dwarfism
disease 0.400 None 0.945 91 0 1981 2019
Entrez Id: 673
Gene Symbol: BRAF
BRAF
B-Raf proto-oncogene, serine/threonine kinase 0.319 0.846 1.00
CUI: C0013336
Disease: Dwarfism
Dwarfism
disease 0.100 None 0 0
Entrez Id: 6774
Gene Symbol: STAT3
STAT3
signal transducer and activator of transcription 3 0.320 0.923 1.00
CUI: C0013336
Disease: Dwarfism
Dwarfism
disease 0.120 None 1.000 2 0 2017 2017
Entrez Id: 3845
Gene Symbol: KRAS
KRAS
KRAS proto-oncogene, GTPase 0.320 0.923 7.9E-04
CUI: C0013336
Disease: Dwarfism
Dwarfism
disease 0.110 None 1.000 1 0 2007 2007
Entrez Id: 2099
Gene Symbol: ESR1
ESR1
estrogen receptor 1 0.324 0.962 1.00
CUI: C0013336
Disease: Dwarfism
Dwarfism
disease 0.010 None 1.000 1 0 2020 2020
Entrez Id: 60
Gene Symbol: ACTB
ACTB
actin beta 0.325 0.923 0.99
CUI: C0013336
Disease: Dwarfism
Dwarfism
disease 0.100 None 0 0
Entrez Id: 1437
Gene Symbol: CSF2
CSF2
colony stimulating factor 2 0.330 0.962 0.83
CUI: C0013336
Disease: Dwarfism
Dwarfism
disease 0.010 None 1.000 1 0 1996 1996
Entrez Id: 5594
Gene Symbol: MAPK1
MAPK1
mitogen-activated protein kinase 1 0.330 0.923 1.00
CUI: C0013336
Disease: Dwarfism
Dwarfism
disease 0.110 None 1.000 1 0 2005 2005
Entrez Id: 4313
Gene Symbol: MMP2
MMP2
matrix metallopeptidase 2 0.333 0.923 0.84
CUI: C0013336
Disease: Dwarfism
Dwarfism
disease 0.110 None 1.000 1 0 2007 2007
Entrez Id: 595
Gene Symbol: CCND1
CCND1
cyclin D1 0.344 0.923 0.89
CUI: C0013336
Disease: Dwarfism
Dwarfism
disease 0.010 None 1.000 1 0 2014 2014
Entrez Id: 627
Gene Symbol: BDNF
BDNF
brain derived neurotrophic factor 0.345 0.923 0.66
CUI: C0013336
Disease: Dwarfism
Dwarfism
disease 0.100 None 0 0
Entrez Id: 3952
Gene Symbol: LEP
LEP
leptin 0.349 0.846 0.46
CUI: C0013336
Disease: Dwarfism
Dwarfism
disease 0.010 None 1.000 1 0 2012 2012
Entrez Id: 367
Gene Symbol: AR
AR
androgen receptor 0.351 0.846 0.99
CUI: C0013336
Disease: Dwarfism
Dwarfism
disease 0.010 None 1.000 1 0 2008 2008
Entrez Id: 7421
Gene Symbol: VDR
VDR
vitamin D receptor 0.352 0.885 1.7E-05
CUI: C0013336
Disease: Dwarfism
Dwarfism
disease 0.130 None 1.000 3 0 2006 2015
Entrez Id: 4513
Gene Symbol: COX2
COX2
cytochrome c oxidase subunit II 0.352 0.962
CUI: C0013336
Disease: Dwarfism
Dwarfism
disease 0.110 None 1.000 1 0 2005 2005
Entrez Id: 5443
Gene Symbol: POMC
POMC
proopiomelanocortin 0.356 0.846 1.2E-04
CUI: C0013336
Disease: Dwarfism
Dwarfism
disease 0.010 None 1.000 1 0 1976 1976
Entrez Id: 4780
Gene Symbol: NFE2L2
NFE2L2
nuclear factor, erythroid 2 like 2 0.357 0.885 3.6E-03
CUI: C0013336
Disease: Dwarfism
Dwarfism
disease 0.100 None 0 0