Source: CLINVAR

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: 2623
Gene Symbol: GATA1
GATA1
GATA binding protein 1 0.483 0.808 0.95
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia
phenotype 0.900 strong 0.947 1 2 1995 2020
Entrez Id: 2120
Gene Symbol: ETV6
ETV6
ETS variant transcription factor 6 0.477 0.731 0.97
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia
phenotype 0.690 strong 1.000 1 5 2015 2019
Entrez Id: 54205
Gene Symbol: CYCS
CYCS
cytochrome c, somatic 0.599 0.769 0.64
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia
phenotype 0.650 strong 1.000 1 1 2008 2019
Entrez Id: 861
Gene Symbol: RUNX1
RUNX1
RUNX family transcription factor 1 0.425 0.808 0.65
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia
phenotype 0.500 strong 0.968 1 3 1999 2019
Entrez Id: 2815
Gene Symbol: GP9
GP9
glycoprotein IX platelet 0.695 0.500 0.48
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia
phenotype 0.460 None 1.000 1 1 1998 2020
Entrez Id: 3674
Gene Symbol: ITGA2B
ITGA2B
integrin subunit alpha 2b 0.493 0.692 1.5E-16
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia
phenotype 0.450 None 1.000 1 1 1998 2019
Entrez Id: 2812
Gene Symbol: GP1BB
GP1BB
glycoprotein Ib platelet subunit beta 0.524 0.769 0.51
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia
phenotype 0.400 None 1.000 1 1 2004 2019
Entrez Id: 4352
Gene Symbol: MPL
MPL
MPL proto-oncogene, thrombopoietin receptor 0.510 0.692 4.1E-09
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia
phenotype 0.400 None 1.000 1 3 1998 2020
Entrez Id: 7454
Gene Symbol: WAS
WAS
WASP actin nucleation promoting factor 0.529 0.808 1.00
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia
phenotype 0.200 None 1.000 1 1 2002 2019
Entrez Id: 22852
Gene Symbol: ANKRD26
ANKRD26
ankyrin repeat domain 26 0.711 0.308 3.6E-24
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia
phenotype 0.200 None 1.000 1 2 2011 2019
Entrez Id: 2313
Gene Symbol: FLI1
FLI1
Fli-1 proto-oncogene, ETS transcription factor 0.468 0.692 0.99
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia
phenotype 0.200 None 0.933 0 1 2000 2019
Entrez Id: 4627
Gene Symbol: MYH9
MYH9
myosin heavy chain 9 0.505 0.808 1.00
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia
phenotype 0.200 None 1.000 0 1 2005 2020
Entrez Id: 11093
Gene Symbol: ADAMTS13
ADAMTS13
ADAM metallopeptidase with thrombospondin type 1 motif 13 0.496 0.769 5.1E-15
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia
phenotype 0.200 None 1.000 0 2 2002 2019
Entrez Id: 2811
Gene Symbol: GP1BA
GP1BA
glycoprotein Ib platelet subunit alpha 0.565 0.692 3.2E-03
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia
phenotype 0.140 None 1.000 1 1 2012 2019
Entrez Id: 2629
Gene Symbol: GBA
GBA
glucosylceramidase beta 0.500 0.808 1.4E-06
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia
phenotype 0.130 None 1.000 0 2 2004 2017
Entrez Id: 6714
Gene Symbol: SRC
SRC
SRC proto-oncogene, non-receptor tyrosine kinase 0.467 0.885 1.00
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia
phenotype 0.120 None 1.000 0 1 2016 2019
Entrez Id: 342618
Gene Symbol: SLFN14
SLFN14
schlafen family member 14 0.931 3.5E-09
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia
phenotype 0.120 None 1.000 0 2 2015 2018
Entrez Id: 998
Gene Symbol: CDC42
CDC42
cell division cycle 42 0.458 0.846 0.79
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia
phenotype 0.120 None 1.000 0 1 2015 2016
Entrez Id: 10020
Gene Symbol: GNE
GNE
glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase 0.610 0.692 2.5E-16
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia
phenotype 0.110 None 1.000 1 1 2014 2019
Entrez Id: 3981
Gene Symbol: LIG4
LIG4
DNA ligase 4 0.478 0.846 4.2E-06
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia
phenotype 0.100 None 1.000 2 2 2001 2014
Entrez Id: 6772
Gene Symbol: STAT1
STAT1
signal transducer and activator of transcription 1 0.399 0.885 1.00
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia
phenotype 0.100 None 1.000 2 1 2016 2018
Entrez Id: 1145
Gene Symbol: CHRNE
CHRNE
cholinergic receptor nicotinic epsilon subunit 0.636 0.577 4.7E-09
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia
phenotype 0.100 None 1.000 1 1 2019 2019
Entrez Id: 64135
Gene Symbol: IFIH1
IFIH1
interferon induced with helicase C domain 1 0.471 0.808 7.0E-44
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia
phenotype 0.100 None 1.000 1 1 2020 2020
Entrez Id: 5413
Gene Symbol: SEPTIN5
SEPTIN5
septin 5 0.691 0.462 0.93
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia
phenotype 0.100 None 1.000 1 1 2019 2019
Entrez Id: 1211
Gene Symbol: CLTA
CLTA
clathrin light chain A 0.628 0.654 0.96
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia
phenotype 0.100 None 1.000 1 1 2019 2019