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: 3815
Gene Symbol: KIT
KIT
KIT proto-oncogene, receptor tyrosine kinase 0.366 0.808 0.98
CUI: C0221013
Disease: Mastocytosis, Systemic
Mastocytosis, Systemic
disease 0.700 None 0.984 123 7 1998 2020
Entrez Id: 3162
Gene Symbol: HMOX1
HMOX1
heme oxygenase 1 0.381 0.923 9.7E-03
CUI: C0221013
Disease: Mastocytosis, Systemic
Mastocytosis, Systemic
disease 0.300 None 1.000 1 0 2007 2007
Entrez Id: 5156
Gene Symbol: PDGFRA
PDGFRA
platelet derived growth factor receptor alpha 0.415 0.808 1.00
CUI: C0221013
Disease: Mastocytosis, Systemic
Mastocytosis, Systemic
disease 0.100 None 1.000 15 0 2004 2018
Entrez Id: 3559
Gene Symbol: IL2RA
IL2RA
interleukin 2 receptor subunit alpha 0.389 0.885 5.5E-02
CUI: C0221013
Disease: Mastocytosis, Systemic
Mastocytosis, Systemic
disease 0.100 None 1.000 14 0 2003 2019
Entrez Id: 3669
Gene Symbol: ISG20
ISG20
interferon stimulated exonuclease gene 20 0.414 0.846 2.9E-03
CUI: C0221013
Disease: Mastocytosis, Systemic
Mastocytosis, Systemic
disease 0.100 None 1.000 13 0 2003 2019
Entrez Id: 81608
Gene Symbol: FIP1L1
FIP1L1
factor interacting with PAPOLA and CPSF1 0.575 0.577 0.79
CUI: C0221013
Disease: Mastocytosis, Systemic
Mastocytosis, Systemic
disease 0.100 None 1.000 12 0 2004 2012
Entrez Id: 2322
Gene Symbol: FLT3
FLT3
fms related receptor tyrosine kinase 3 0.462 0.654 0.61
CUI: C0221013
Disease: Mastocytosis, Systemic
Mastocytosis, Systemic
disease 0.100 None 1.000 11 0 2003 2019
Entrez Id: 54790
Gene Symbol: TET2
TET2
tet methylcytosine dioxygenase 2 0.458 0.808 4.3E-54
CUI: C0221013
Disease: Mastocytosis, Systemic
Mastocytosis, Systemic
disease 0.080 None 1.000 8 0 2009 2016
Entrez Id: 943
Gene Symbol: TNFRSF8
TNFRSF8
TNF receptor superfamily member 8 0.444 0.808 0.86
CUI: C0221013
Disease: Mastocytosis, Systemic
Mastocytosis, Systemic
disease 0.080 None 0.875 8 0 2010 2019
Entrez Id: 6777
Gene Symbol: STAT5B
STAT5B
signal transducer and activator of transcription 5B 0.442 0.808 1.00
CUI: C0221013
Disease: Mastocytosis, Systemic
Mastocytosis, Systemic
disease 0.050 None 1.000 5 0 2007 2018
Entrez Id: 947
Gene Symbol: CD34
CD34
CD34 molecule 0.368 0.808 5.0E-06
CUI: C0221013
Disease: Mastocytosis, Systemic
Mastocytosis, Systemic
disease 0.050 None 1.000 5 0 2006 2018
Entrez Id: 3717
Gene Symbol: JAK2
JAK2
Janus kinase 2 0.385 0.885 0.65
CUI: C0221013
Disease: Mastocytosis, Systemic
Mastocytosis, Systemic
disease 0.050 None 1.000 5 1 2005 2014
Entrez Id: 6776
Gene Symbol: STAT5A
STAT5A
signal transducer and activator of transcription 5A 0.445 0.808 1.00
CUI: C0221013
Disease: Mastocytosis, Systemic
Mastocytosis, Systemic
disease 0.050 None 1.000 5 0 2007 2018
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
fibroblast growth factor receptor 1 0.362 0.885 1.00
CUI: C0221013
Disease: Mastocytosis, Systemic
Mastocytosis, Systemic
disease 0.040 None 1.000 4 0 2007 2018
Entrez Id: 861
Gene Symbol: RUNX1
RUNX1
RUNX family transcription factor 1 0.425 0.808 0.65
CUI: C0221013
Disease: Mastocytosis, Systemic
Mastocytosis, Systemic
disease 0.040 None 1.000 4 0 2007 2018
Entrez Id: 171023
Gene Symbol: ASXL1
ASXL1
ASXL transcriptional regulator 1 0.482 0.808 1.3E-14
CUI: C0221013
Disease: Mastocytosis, Systemic
Mastocytosis, Systemic
disease 0.040 None 1.000 4 0 2014 2018
Entrez Id: 5169
Gene Symbol: ENPP3
ENPP3
ectonucleotide pyrophosphatase/phosphodiesterase 3 0.663 0.538 3.5E-23
CUI: C0221013
Disease: Mastocytosis, Systemic
Mastocytosis, Systemic
disease 0.030 None 1.000 3 0 2009 2019
Entrez Id: 867
Gene Symbol: CBL
CBL
Cbl proto-oncogene 0.527 0.769 6.1E-04
CUI: C0221013
Disease: Mastocytosis, Systemic
Mastocytosis, Systemic
disease 0.030 None 1.000 3 0 2012 2016
Entrez Id: 7307
Gene Symbol: U2AF1
U2AF1
U2 small nuclear RNA auxiliary factor 1 0.604 0.577 0.99
CUI: C0221013
Disease: Mastocytosis, Systemic
Mastocytosis, Systemic
disease 0.020 None 1.000 2 0 2012 2013
Entrez Id: 596
Gene Symbol: BCL2
BCL2
BCL2 apoptosis regulator 0.291 0.885 0.56
CUI: C0221013
Disease: Mastocytosis, Systemic
Mastocytosis, Systemic
disease 0.020 None 1.000 2 0 2003 2009
Entrez Id: 4893
Gene Symbol: NRAS
NRAS
NRAS proto-oncogene, GTPase 0.390 0.808 0.49
CUI: C0221013
Disease: Mastocytosis, Systemic
Mastocytosis, Systemic
disease 0.020 None 1.000 2 0 2011 2015
Entrez Id: 3596
Gene Symbol: IL13
IL13
interleukin 13 0.386 0.846 1.4E-02
CUI: C0221013
Disease: Mastocytosis, Systemic
Mastocytosis, Systemic
disease 0.020 None 1.000 2 0 2009 2016
Entrez Id: 6609
Gene Symbol: SMPD1
SMPD1
sphingomyelin phosphodiesterase 1 0.499 0.885 3.9E-10
CUI: C0221013
Disease: Mastocytosis, Systemic
Mastocytosis, Systemic
disease 0.020 None 1.000 2 0 2014 2016
Entrez Id: 338339
Gene Symbol: CLEC4D
CLEC4D
C-type lectin domain family 4 member D 0.587 0.538 2.5E-06
CUI: C0221013
Disease: Mastocytosis, Systemic
Mastocytosis, Systemic
disease 0.020 None 1.000 2 0 2006 2014
Entrez Id: 862
Gene Symbol: RUNX1T1
RUNX1T1
RUNX1 partner transcriptional co-repressor 1 0.530 0.808 0.98
CUI: C0221013
Disease: Mastocytosis, Systemic
Mastocytosis, Systemic
disease 0.020 None 1.000 2 0 2007 2012