Source: HPO

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 0 0 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 0 0 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 0 0 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 0 0 1999 2019
Entrez Id: 2212
Gene Symbol: FCGR2A
FCGR2A
Fc fragment of IgG receptor IIa 0.480 0.769 2.0E-06
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia
phenotype 0.470 None 1.000 0 0 2001 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 0 0 1998 2020
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 0 0 2004 2019
Entrez Id: 6948
Gene Symbol: TCN2
TCN2
transcobalamin 2 0.578 0.615 1.0E-06
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia
phenotype 0.400 strong 1.000 0 0 1999 2009
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 0 0 1998 2020
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 0 2000 2019
Entrez Id: 7450
Gene Symbol: VWF
VWF
von Willebrand factor 0.408 0.885 3.2E-25
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia
phenotype 0.200 None 0.962 0 0 1981 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 0 2005 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 0 0 2002 2019
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 0 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 0 0 2011 2019
Entrez Id: 87
Gene Symbol: ACTN1
ACTN1
actinin alpha 1 0.695 0.577 1.00
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia
phenotype 0.170 None 1.000 0 0 2013 2019
Entrez Id: 3717
Gene Symbol: JAK2
JAK2
Janus kinase 2 0.385 0.885 0.65
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia
phenotype 0.170 None 0.857 0 0 2007 2018
Entrez Id: 3075
Gene Symbol: CFH
CFH
complement factor H 0.441 0.885 0.86
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia
phenotype 0.170 None 1.000 0 0 2000 2018
Entrez Id: 8328
Gene Symbol: GFI1B
GFI1B
growth factor independent 1B transcriptional repressor 0.623 0.500 5.2E-04
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia
phenotype 0.150 None 1.000 0 0 2017 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 0 0 2012 2019
Entrez Id: 2316
Gene Symbol: FLNA
FLNA
filamin A 0.419 0.846 1.00
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia
phenotype 0.140 None 1.000 0 0 2011 2018
Entrez Id: 2533
Gene Symbol: FYB1
FYB1
FYN binding protein 1 0.711 0.538 0.24
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia
phenotype 0.130 None 1.000 0 0 2014 2019
Entrez Id: 3673
Gene Symbol: ITGA2
ITGA2
integrin subunit alpha 2 0.522 0.731 6.3E-11
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia
phenotype 0.130 None 1.000 0 0 2007 2020
Entrez Id: 948
Gene Symbol: CD36
CD36
CD36 molecule 0.446 0.846 1.1E-60
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia
phenotype 0.130 None 1.000 0 0 2006 2017
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 0 2004 2017