Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3815
Gene Symbol: KIT
KIT
0.350 GeneticVariation disease BEFREE Currently, midostaurin is the only approved TKI as monotherapy for aggressive systemic mastocytosis (SM), SM with associated hematological neoplasm, or mast cell leukemia displaying a KIT mutation as well as in combination with standard intensive chemotherapy for adult patients with newly diagnosed FLT3-mutated acute myeloid leukemia (AML). 28960095 2017
Entrez Id: 3815
Gene Symbol: KIT
KIT
0.350 GeneticVariation disease BEFREE A transgenic zebrafish model expressing KIT-D816V recapitulates features of aggressive systemic mastocytosis. 24989799 2014
Entrez Id: 3815
Gene Symbol: KIT
KIT
0.350 Biomarker disease BEFREE Juxtamembrane-type c-kit gene mutation found in aggressive systemic mastocytosis induces imatinib-resistant constitutive KIT activation. 17259998 2007
Entrez Id: 3815
Gene Symbol: KIT
KIT
0.350 Biomarker disease CTD_human Rapamycin inhibits growth and survival of D816V-mutated c-kit mast cells. 16597595 2006
Entrez Id: 3815
Gene Symbol: KIT
KIT
0.350 Biomarker disease BEFREE We used immunohistochemistry to detect in situ expression of tryptase and chymase by mast cells of a patient with urticaria pigmentosa and aggressive systemic mastocytosis, whose pathologic mast cells are clonally derived and chronically stimulated by KIT because they all contain the same point mutation causing constitutive activation of KIT. 9129234 1997
Entrez Id: 3815
Gene Symbol: KIT
KIT
0.350 Biomarker disease BEFREE To determine the role of c-KIT in the pathogenesis of mastocytosis, we examined tissue and cells isolated from a patient with UP and aggressive systemic mastocytosis with massive splenic involvement. 8589724 1996
Entrez Id: 3162
Gene Symbol: HMOX1
HMOX1
0.300 Biomarker disease CTD_human Identification of heat shock protein 32 (Hsp32) as a novel survival factor and therapeutic target in neoplastic mast cells. 17420286 2007
Entrez Id: 943
Gene Symbol: TNFRSF8
TNFRSF8
0.030 AlteredExpression disease BEFREE It ranges from skin lesions as cutaneous mastocytosis (CM) which may spontaneously regress to highly aggressive neoplasms with multiorgan involvement corresponding to some aggressive systemic mastocytosis (ASM), mast cell leukemia (MCL), and/or mast cell sarcoma (MCS).There is increasing evidence of CD30 expression in neoplastic MCs of the bone marrow. 29794740 2018
Entrez Id: 943
Gene Symbol: TNFRSF8
TNFRSF8
0.030 AlteredExpression disease BEFREE Recent studies have indicated that CD30 is frequently expressed in aggressive systemic mastocytosis and mast cell leukemia but infrequently in indolent systemic mastocytosis, and may be a useful marker for distinguishing these subtypes of systemic mastocytosis from one another. 22372203 2012
Entrez Id: 943
Gene Symbol: TNFRSF8
TNFRSF8
0.030 AlteredExpression disease BEFREE The mast cell leukemia cell line HMC-1, derived from a patient with aggressive systemic mastocytosis also expressed the CD30 protein. 21186345 2011
Entrez Id: 2322
Gene Symbol: FLT3
FLT3
0.020 GeneticVariation disease BEFREE In April 2017, midostaurin was approved in the USA for the treatment of adult patients with newly diagnosed, FMS-like tyrosine kinase 3 (FLT3) mutation-positive acute myeloid leukaemia (AML) [in combination with standard cytarabine and daunorubicin induction, and cytarabine consolidation], or aggressive systemic mastocytosis (ASM), systemic mastocytosis with associated haematological neoplasm (SM-AHN) or mast cell leukaemia (MCL) [collectively known as advanced SM]. 28612232 2017
Entrez Id: 6609
Gene Symbol: SMPD1
SMPD1
0.020 Biomarker disease BEFREE Analysis using Kaplan-Meier survival curves showed a mean healing time of 73·1 days for ASM plus SC (ASM) treated ulcers in comparison with 83·5 days for comparison group ulcers treated with SC alone (Log rank test, χ<sup>2</sup> 5·779, P = 0·016) within 12 weeks. 27868341 2017
Entrez Id: 283120
Gene Symbol: H19
H19
0.020 Biomarker disease BEFREE Analysis using Kaplan-Meier survival curves showed a mean healing time of 73·1 days for ASM plus SC (ASM) treated ulcers in comparison with 83·5 days for comparison group ulcers treated with SC alone (Log rank test, χ<sup>2</sup> 5·779, P = 0·016) within 12 weeks. 27868341 2017
Entrez Id: 2322
Gene Symbol: FLT3
FLT3
0.020 GeneticVariation disease BEFREE Currently, midostaurin is the only approved TKI as monotherapy for aggressive systemic mastocytosis (SM), SM with associated hematological neoplasm, or mast cell leukemia displaying a KIT mutation as well as in combination with standard intensive chemotherapy for adult patients with newly diagnosed FLT3-mutated acute myeloid leukemia (AML). 28960095 2017
Entrez Id: 283120
Gene Symbol: H19
H19
0.020 GeneticVariation disease BEFREE Beside genetic variation in the human gene encoding ASM (SMPD1), alternative splicing of the mRNA is involved in regulation of enzymatic activity. 25898364 2015
Entrez Id: 6609
Gene Symbol: SMPD1
SMPD1
0.020 GeneticVariation disease BEFREE Beside genetic variation in the human gene encoding ASM (SMPD1), alternative splicing of the mRNA is involved in regulation of enzymatic activity. 25898364 2015
Entrez Id: 3679
Gene Symbol: ITGA7
ITGA7
0.010 Biomarker disease BEFREE We previously showed that integrin α7 is a novel marker of the contractile ASM phenotype suggesting that targeting this protein may offer new avenues to counter the increase in ASM cell mass that underlies airways hyperresponsiveness (AHR) in asthma. 31289310 2019
Entrez Id: 60
Gene Symbol: ACTB
ACTB
0.010 Biomarker disease BEFREE Stretching activated strips of airway smooth muscle (ASM) significantly affects both active force and stiffness due to a temporary reduction of the proportion of cycling myosin cross bridges that are bound to their actin binding sites. 29446713 2018
Entrez Id: 7334
Gene Symbol: UBE2N
UBE2N
0.010 AlteredExpression disease BEFREE Early clinical evaluation of BLU-285 in a phase 1 study has demonstrated marked activity in patients with diseases associated with <i>KIT</i> (aggressive systemic mastocytosis and gastrointestinal stromal tumor) and <i>PDGFRA</i> (gastrointestinal stromal tumor) activation loop mutations. 29093181 2017
Entrez Id: 51364
Gene Symbol: ZMYND10
ZMYND10
0.010 AlteredExpression disease BEFREE Early clinical evaluation of BLU-285 in a phase 1 study has demonstrated marked activity in patients with diseases associated with <i>KIT</i> (aggressive systemic mastocytosis and gastrointestinal stromal tumor) and <i>PDGFRA</i> (gastrointestinal stromal tumor) activation loop mutations. 29093181 2017
Entrez Id: 7040
Gene Symbol: TGFB1
TGFB1
0.010 AlteredExpression disease BEFREE In line with a switch from a contractile to a proliferative ASM phenotype, T4 reduced the TGF-β1-induced contractile protein expression by ∼50%. 25480330 2015
Entrez Id: 4240
Gene Symbol: MFGE8
MFGE8
0.010 Biomarker disease BEFREE Recombinant Mfge8 reduced contraction in murine and human ASM treated with IL-13. 23269839 2013
Entrez Id: 3596
Gene Symbol: IL13
IL13
0.010 GeneticVariation disease BEFREE Recombinant Mfge8 reduced contraction in murine and human ASM treated with IL-13. 23269839 2013