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: 3458
Gene Symbol: IFNG
IFNG
interferon gamma 0.288 0.962 0.47
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia
phenotype 0.120 None 1.000 0 0 2017 2017
Entrez Id: 6774
Gene Symbol: STAT3
STAT3
signal transducer and activator of transcription 3 0.320 0.923 1.00
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia
phenotype 0.100 None 0 0
Entrez Id: 3123
Gene Symbol: HLA-DRB1
HLA-DRB1
major histocompatibility complex, class II, DR beta 1 0.333 0.923 1.1E-03
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia
phenotype 0.120 None 0.500 0 0 2003 2019
Entrez Id: 348
Gene Symbol: APOE
APOE
apolipoprotein E 0.338 0.962 1.9E-03
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia
phenotype 0.100 None 0 0
Entrez Id: 2475
Gene Symbol: MTOR
MTOR
mechanistic target of rapamycin kinase 0.343 0.885 1.00
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia
phenotype 0.100 None 0 0
Entrez Id: 6696
Gene Symbol: SPP1
SPP1
secreted phosphoprotein 1 0.353 0.885 2.1E-06
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia
phenotype 0.110 None 1.000 0 0 2018 2018
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
BRCA1 DNA repair associated 0.367 0.923 9.2E-29
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia
phenotype 0.100 None 0 0
Entrez Id: 50943
Gene Symbol: FOXP3
FOXP3
forkhead box P3 0.368 0.846 0.99
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia
phenotype 0.100 None 0 0
Entrez Id: 1493
Gene Symbol: CTLA4
CTLA4
cytotoxic T-lymphocyte associated protein 4 0.369 0.923 0.94
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia
phenotype 0.100 None 0 0
Entrez Id: 4851
Gene Symbol: NOTCH1
NOTCH1
notch receptor 1 0.369 0.885 1.00
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia
phenotype 0.100 None 0 0
Entrez Id: 7015
Gene Symbol: TERT
TERT
telomerase reverse transcriptase 0.374 0.846 0.99
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia
phenotype 0.100 None 0 0
Entrez Id: 4846
Gene Symbol: NOS3
NOS3
nitric oxide synthase 3 0.378 0.885 6.7E-07
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia
phenotype 0.110 None 1.000 0 0 2018 2018
Entrez Id: 3106
Gene Symbol: HLA-B
HLA-B
major histocompatibility complex, class I, B 0.379 0.885 3.9E-05
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia
phenotype 0.100 None 0 0
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
BRCA2 DNA repair associated 0.379 0.846 2.4E-25
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia
phenotype 0.100 None 0 0
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: 1312
Gene Symbol: COMT
COMT
catechol-O-methyltransferase 0.400 0.923 1.1E-06
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia
phenotype 0.100 None 0 0
Entrez Id: 5573
Gene Symbol: PRKAR1A
PRKAR1A
protein kinase cAMP-dependent type I regulatory subunit alpha 0.401 0.846 1.00
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia
phenotype 0.100 None 0 0
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: 811
Gene Symbol: CALR
CALR
calreticulin 0.413 0.923 0.89
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia
phenotype 0.100 None 0 0
Entrez Id: 959
Gene Symbol: CD40LG
CD40LG
CD40 ligand 0.414 0.846 0.72
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia
phenotype 0.100 None 0 0
Entrez Id: 5159
Gene Symbol: PDGFRB
PDGFRB
platelet derived growth factor receptor beta 0.416 0.846 0.90
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia
phenotype 0.100 None 0 0
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: 2321
Gene Symbol: FLT1
FLT1
fms related receptor tyrosine kinase 1 0.419 0.846 1.00
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia
phenotype 0.100 None 0 0
Entrez Id: 5328
Gene Symbol: PLAU
PLAU
plasminogen activator, urokinase 0.425 0.923 2.3E-06
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia
phenotype 0.100 None 0 0
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