mastocytosis Gene Set

Dataset DISEASES Text-mining Gene-Disease Association Evidence Scores
Category disease or phenotype associations
Type disease
Description OMIM mapping confirmed by DO. [LS]. (Human Disease Ontology, DOID_350)
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Genes

357 genes co-occuring with the disease mastocytosis in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

Symbol Name Standardized Value
KIT v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog 2.05991
ZNF185 zinc finger protein 185 (LIM domain) 1.92295
CMA1 chymase 1, mast cell 1.88113
FIP1L1 factor interacting with PAPOLA and CPSF1 1.82775
KITLG KIT ligand 1.67232
PDGFRA platelet-derived growth factor receptor, alpha polypeptide 1.62112
HDC histidine decarboxylase 1.59832
VIT vitrin 1.45748
GCNT4 glucosaminyl (N-acetyl) transferase 4, core 2 1.43025
GCNT1 glucosaminyl (N-acetyl) transferase 1, core 2 1.37599
TET2 tet methylcytosine dioxygenase 2 1.32934
GCNT2 glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group) 1.24819
TPH1 tryptophan hydroxylase 1 1.23473
ISM1 isthmin 1, angiogenesis inhibitor 1.19704
CHIC2 cysteine-rich hydrophobic domain 2 1.19532
IL2 interleukin 2 1.18626
SMPD1 sphingomyelin phosphodiesterase 1, acid lysosomal 1.15922
PDGFRB platelet-derived growth factor receptor, beta polypeptide 1.11309
PTGDS prostaglandin D2 synthase 21kDa (brain) 1.10846
CD63 CD63 molecule 1.1072
FGFR1 fibroblast growth factor receptor 1 1.07194
IL9 interleukin 9 1.06774
CD34 CD34 molecule 1.02735
SNHG12 small nucleolar RNA host gene 12 1.01301
JAK2 Janus kinase 2 1.00837
MMP10 matrix metallopeptidase 10 0.991909
TSTA3 tissue specific transplantation antigen P35B 0.95369
THY1 Thy-1 cell surface antigen 0.919261
CTRL chymotrypsin-like 0.914727
IFNA2 interferon, alpha 2 0.91308
TAC1 tachykinin, precursor 1 0.906909
FBXO31 F-box protein 31 0.881882
GMCL1 germ cell-less, spermatogenesis associated 1 0.86059
IL4 interleukin 4 0.842982
MEI1 meiosis inhibitor 1 0.824948
CD4 CD4 molecule 0.795411
CPA3 carboxypeptidase A3 (mast cell) 0.788033
LYN LYN proto-oncogene, Src family tyrosine kinase 0.785574
HLA-B major histocompatibility complex, class I, B 0.781888
STAT6 signal transducer and activator of transcription 6, interleukin-4 induced 0.765943
FBXO21 F-box protein 21 0.761047
STK16 serine/threonine kinase 16 0.729762
IL3RA interleukin 3 receptor, alpha (low affinity) 0.718846
NDST3 N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3 0.700722
AKT1 v-akt murine thymoma viral oncogene homolog 1 0.694702
MTSS1 metastasis suppressor 1 0.689893
CD69 CD69 molecule 0.674713
NDST1 N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1 0.669538
ASXL1 additional sex combs like transcriptional regulator 1 0.66914
TMEM173 transmembrane protein 173 0.650903
MPO myeloperoxidase 0.650508
RBSN rabenosyn, RAB effector 0.643009
NGF nerve growth factor (beta polypeptide) 0.630027
NDST2 N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 2 0.604591
CLTCL1 clathrin, heavy chain-like 1 0.603811
HS3ST1 heparan sulfate (glucosamine) 3-O-sulfotransferase 1 0.60225
CD68 CD68 molecule 0.60069
GPR65 G protein-coupled receptor 65 0.595233
GLCE glucuronic acid epimerase 0.594843
PLA2G2D phospholipase A2, group IID 0.574994
LYZ lysozyme 0.564889
IFNA1 interferon, alpha 1 0.562169
IL3 interleukin 3 0.55945
SERPINC1 serpin peptidase inhibitor, clade C (antithrombin), member 1 0.558285
SRSF2 serine/arginine-rich splicing factor 2 0.550522
STAT3 signal transducer and activator of transcription 3 (acute-phase response factor) 0.546644
TNF tumor necrosis factor 0.542767
GAB2 GRB2-associated binding protein 2 0.541992
DESI2 desumoylating isopeptidase 2 0.52729
PSMC3IP PSMC3 interacting protein 0.524202
MITF microphthalmia-associated transcription factor 0.523045
TGFB1 transforming growth factor, beta 1 0.521502
RASGRP4 RAS guanyl releasing protein 4 0.51919
PSMC5 proteasome (prosome, macropain) 26S subunit, ATPase, 5 0.516879
PSMC4 proteasome (prosome, macropain) 26S subunit, ATPase, 4 0.51534
PTPN11 protein tyrosine phosphatase, non-receptor type 11 0.507273
ALPPL2 alkaline phosphatase, placental-like 2 0.506123
ALPP alkaline phosphatase, placental 0.505739
ALPL alkaline phosphatase, liver/bone/kidney 0.504973
PLA2G1B phospholipase A2, group IB (pancreas) 0.503824
NPS neuropeptide S 0.501527
PRKG2 protein kinase, cGMP-dependent, type II 0.491597
CTSC cathepsin C 0.483224
EPGN epithelial mitogen 0.480945
CD300A CD300a molecule 0.475634
IKBKG inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma 0.475255
RIN3 Ras and Rab interactor 3 0.475255
PRF1 perforin 1 (pore forming protein) 0.470332
GAST gastrin 0.469954
VAV1 vav 1 guanine nucleotide exchange factor 0.46655
CBL Cbl proto-oncogene, E3 ubiquitin protein ligase 0.464283
PLA2G4A phospholipase A2, group IVA (cytosolic, calcium-dependent) 0.463149
PTGIR prostaglandin I2 (prostacyclin) receptor (IP) 0.455978
UBE2B ubiquitin-conjugating enzyme E2B 0.451454
CTSG cathepsin G 0.451454
PDLIM2 PDZ and LIM domain 2 (mystique) 0.445052
POSTN periostin, osteoblast specific factor 0.44129
CD276 CD276 molecule 0.437906
SST somatostatin 0.430017
ETV6 ets variant 6 0.42739
CD9 CD9 molecule 0.424014
FN1 fibronectin 1 0.417644
SPO11 SPO11 meiotic protein covalently bound to DSB 0.41727
IL31 interleukin 31 0.411283
TRIO trio Rho guanine nucleotide exchange factor 0.405678
TNP1 transition protein 1 (during histone to protamine replacement) 0.405305
PDCL2 phosducin-like 2 0.402692
FUT4 fucosyltransferase 4 (alpha (1,3) fucosyltransferase, myeloid-specific) 0.401945
RNASE3 ribonuclease, RNase A family, 3 0.397471
NDUFC2 NADH dehydrogenase (ubiquinone) 1, subcomplex unknown, 2, 14.5kDa 0.392257
F2R coagulation factor II (thrombin) receptor 0.390025
BCL2L1 BCL2-like 1 0.382223
CALCA calcitonin-related polypeptide alpha 0.381852
IL5 interleukin 5 0.38111
TNFRSF8 tumor necrosis factor receptor superfamily, member 8 0.379626
CD44 CD44 molecule (Indian blood group) 0.378514
CPA4 carboxypeptidase A4 0.377402
ENPP3 ectonucleotide pyrophosphatase/phosphodiesterase 3 0.375179
DHDH dihydrodiol dehydrogenase (dimeric) 0.371477
C5AR1 complement component 5a receptor 1 0.370368
KNG1 kininogen 1 0.363716
TPP2 tripeptidyl peptidase II 0.35892
SERPINB9 serpin peptidase inhibitor, clade B (ovalbumin), member 9 0.358183
IL13 interleukin 13 0.351555
CLC Charcot-Leyden crystal galectin 0.349717
CD40 CD40 molecule, TNF receptor superfamily member 5 0.349717
CSF2 colony stimulating factor 2 (granulocyte-macrophage) 0.347879
SIGLEC8 sialic acid binding Ig-like lectin 8 0.342372
DSG4 desmoglein 4 0.340173
FLT3 fms-related tyrosine kinase 3 0.337975
HIST2H2AC histone cluster 2, H2ac 0.33651
HIST2H2AA4 histone cluster 2, H2aa4 0.336144
HIST2H2AA3 histone cluster 2, H2aa3 0.336144
GNLY granulysin 0.335412
CASP3 caspase 3, apoptosis-related cysteine peptidase 0.329565
CD79A CD79a molecule, immunoglobulin-associated alpha 0.32701
MIXL1 Mix paired-like homeobox 0.324458
VIP vasoactive intestinal peptide 0.324458
PPP2R2A protein phosphatase 2, regulatory subunit B, alpha 0.32373
PLA2G2A phospholipase A2, group IIA (platelets, synovial fluid) 0.323365
EPX eosinophil peroxidase 0.321909
CD84 CD84 molecule 0.321909
SETBP1 SET binding protein 1 0.318635
U2AF1 U2 small nuclear RNA auxiliary factor 1 0.316092
CD2 CD2 molecule 0.315366
FCER1A Fc fragment of IgE, high affinity I, receptor for; alpha polypeptide 0.310652
UCKL1 uridine-cytidine kinase 1-like 1 0.31029
TNFSF9 tumor necrosis factor (ligand) superfamily, member 9 0.308842
CD58 CD58 molecule 0.305948
TYR tyrosinase 0.304864
UCK1 uridine-cytidine kinase 1 0.303781
GZMH granzyme H (cathepsin G-like 2, protein h-CCPX) 0.302337
CCDC34 coiled-coil domain containing 34 0.299812
CSHL1 chorionic somatomammotropin hormone-like 1 0.298371
CD52 CD52 molecule 0.288668
NTS neurotensin 0.28831
HRH2 histamine receptor H2 0.287593
SRC SRC proto-oncogene, non-receptor tyrosine kinase 0.286877
CCKAR cholecystokinin A receptor 0.284371
ICAM1 intercellular adhesion molecule 1 0.284371
CCL11 chemokine (C-C motif) ligand 11 0.279011
RUNX1 runt-related transcription factor 1 0.276514
TYRO3 TYRO3 protein tyrosine kinase 0.276514
PGM1 phosphoglucomutase 1 0.274376
MVD mevalonate (diphospho) decarboxylase 0.274376
RBPJ recombination signal binding protein for immunoglobulin kappa J region 0.271886
ABL1 ABL proto-oncogene 1, non-receptor tyrosine kinase 0.271886
PIK3R2 phosphoinositide-3-kinase, regulatory subunit 2 (beta) 0.260891
UCK2 uridine-cytidine kinase 2 0.255946
CAPN1 calpain 1, (mu/I) large subunit 0.251718
WRNIP1 Werner helicase interacting protein 1 0.251366
HDLBP high density lipoprotein binding protein 0.251366
BIN2 bridging integrator 2 0.245747
STK3 serine/threonine kinase 3 0.244696
PPP2R1A protein phosphatase 2, regulatory subunit A, alpha 0.244345
PSMD4 proteasome (prosome, macropain) 26S subunit, non-ATPase, 4 0.242245
TP53 tumor protein p53 0.238752
GZMB granzyme B (granzyme 2, cytotoxic T-lymphocyte-associated serine esterase 1) 0.238403
CLEC11A C-type lectin domain family 11, member A 0.237706
RET ret proto-oncogene 0.233878
TRAC T cell receptor alpha constant 0.232142
ASMT acetylserotonin O-methyltransferase 0.230409
HAVCR1 hepatitis A virus cellular receptor 1 0.22937
RAC2 ras-related C3 botulinum toxin substrate 2 (rho family, small GTP binding protein Rac2) 0.22937
HRAS Harvey rat sarcoma viral oncogene homolog 0.229024
TSPO translocator protein (18kDa) 0.228679
CCNC cyclin C 0.220766
OSM oncostatin M 0.217693
MYO1G myosin IG 0.215992
RUNX1T1 runt-related transcription factor 1; translocated to, 1 (cyclin D-related) 0.212945
HAL histidine ammonia-lyase 0.212608
IL6 interleukin 6 0.211261
CCKBR cholecystokinin B receptor 0.211261
IL2RA interleukin 2 receptor, alpha 0.208579
CD28 CD28 molecule 0.207578
CTLA4 cytotoxic T-lymphocyte-associated protein 4 0.207578
LAT linker for activation of T cells 0.207245
SGPL1 sphingosine-1-phosphate lyase 1 0.206913
PTBP2 polypyrimidine tract binding protein 2 0.202946
IL4R interleukin 4 receptor 0.198709
DMRT1 doublesex and mab-3 related transcription factor 1 0.198709
ATP6V0A1 ATPase, H+ transporting, lysosomal V0 subunit a1 0.19742
FCGR1A Fc fragment of IgG, high affinity Ia, receptor (CD64) 0.197099
RASGRP1 RAS guanyl releasing protein 1 (calcium and DAG-regulated) 0.196139
PGF placental growth factor 0.195501
SLC17A5 solute carrier family 17 (acidic sugar transporter), member 5 0.195183
PDYN prodynorphin 0.194232
FOXF1 forkhead box F1 0.193285
MSRA methionine sulfoxide reductase A 0.192657
SLC18A2 solute carrier family 18 (vesicular monoamine transporter), member 2 0.191408
ACPP acid phosphatase, prostate 0.190476
BTK Bruton agammaglobulinemia tyrosine kinase 0.189244
CD177 CD177 molecule 0.188326
ACO1 aconitase 1, soluble 0.187719
LPO lactoperoxidase 0.187415
CD33 CD33 molecule 0.187415
STK26 serine/threonine protein kinase 26 0.187415
CD86 CD86 molecule 0.185612
PNMA2 paraneoplastic Ma antigen 2 0.184128
IL27RA interleukin 27 receptor, alpha 0.183835
PLCG2 phospholipase C, gamma 2 (phosphatidylinositol-specific) 0.182375
MTOR mechanistic target of rapamycin (serine/threonine kinase) 0.18151
CD59 CD59 molecule, complement regulatory protein 0.180652
PTPRC protein tyrosine phosphatase, receptor type, C 0.180084
NT5E 5'-nucleotidase, ecto (CD73) 0.17896
IGBP1 immunoglobulin (CD79A) binding protein 1 0.178682
SRGN serglycin 0.178403
ITGAM integrin, alpha M (complement component 3 receptor 3 subunit) 0.178126
FASLG Fas ligand (TNF superfamily, member 6) 0.175146
MUC4 mucin 4, cell surface associated 0.174881
SCD stearoyl-CoA desaturase (delta-9-desaturase) 0.173571
SPN sialophorin 0.171785
PALLD palladin, cytoskeletal associated protein 0.16933
CD80 CD80 molecule 0.167224
CRHR1 corticotropin releasing hormone receptor 1 0.164571
AOC3 amine oxidase, copper containing 3 0.163523
CTCFL CCCTC-binding factor (zinc finger protein)-like 0.162707
MT2A metallothionein 2A 0.160948
CD72 CD72 molecule 0.160387
SLAMF1 signaling lymphocytic activation molecule family member 1 0.160387
HOXB13 homeobox B13 0.142923
SEMG1 semenogelin I 0.142425
DHPS deoxyhypusine synthase 0.141769
PPARGC1B peroxisome proliferator-activated receptor gamma, coactivator 1 beta 0.14172
PTBP1 polypyrimidine tract binding protein 1 0.141666
PROP1 PROP paired-like homeobox 1 0.141161
CBFA2T3 core-binding factor, runt domain, alpha subunit 2; translocated to, 3 0.141032
AGA aspartylglucosaminidase 0.140852
NPHS2 nephrosis 2, idiopathic, steroid-resistant (podocin) 0.139524
ASAH1 N-acylsphingosine amidohydrolase (acid ceramidase) 1 0.139506
PCSK6 proprotein convertase subtilisin/kexin type 6 0.139115
SERPINB6 serpin peptidase inhibitor, clade B (ovalbumin), member 6 0.139103
NLRP12 NLR family, pyrin domain containing 12 0.13896
MED28 mediator complex subunit 28 0.138463
SMPD2 sphingomyelin phosphodiesterase 2, neutral membrane (neutral sphingomyelinase) 0.138361
ATN1 atrophin 1 0.138269
KCNN4 potassium channel, calcium activated intermediate/small conductance subfamily N alpha, member 4 0.1375
HTN3 histatin 3 0.136912
TIE1 tyrosine kinase with immunoglobulin-like and EGF-like domains 1 0.136729
DECR1 2,4-dienoyl CoA reductase 1, mitochondrial 0.136205
TERF1 telomeric repeat binding factor (NIMA-interacting) 1 0.135573
GPR162 G protein-coupled receptor 162 0.134574
ATP11A ATPase, class VI, type 11A 0.134538
UBE2H ubiquitin-conjugating enzyme E2H 0.134336
CASP8 caspase 8, apoptosis-related cysteine peptidase 0.134121
MLXIPL MLX interacting protein-like 0.134113
EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit 0.132784
IDH1 isocitrate dehydrogenase 1 (NADP+), soluble 0.12916
NPM1 nucleophosmin (nucleolar phosphoprotein B23, numatrin) 0.129099
ATM ATM serine/threonine kinase 0.123818
ECE1 endothelin converting enzyme 1 0.122106
PRSS21 protease, serine, 21 (testisin) 0.121831
S1PR1 sphingosine-1-phosphate receptor 1 0.120939
ICK intestinal cell (MAK-like) kinase 0.120178
PSMC6 proteasome (prosome, macropain) 26S subunit, ATPase, 6 0.120071
FCER2 Fc fragment of IgE, low affinity II, receptor for (CD23) 0.11983
AXIN2 axin 2 0.119742
RICTOR RPTOR independent companion of MTOR, complex 2 0.119049
ENG endoglin 0.118569
HAND1 heart and neural crest derivatives expressed 1 0.118074
SNRNP70 small nuclear ribonucleoprotein 70kDa (U1) 0.116631
GAPDH glyceraldehyde-3-phosphate dehydrogenase 0.115421
LAX1 lymphocyte transmembrane adaptor 1 0.115101
SERPINB1 serpin peptidase inhibitor, clade B (ovalbumin), member 1 0.114887
ANPEP alanyl (membrane) aminopeptidase 0.112442
TPMT thiopurine S-methyltransferase 0.112237
BCL2L11 BCL2-like 11 (apoptosis facilitator) 0.112062
GADD45A growth arrest and DNA-damage-inducible, alpha 0.111762
GLS glutaminase 0.111521
PGRMC1 progesterone receptor membrane component 1 0.110884
FURIN furin (paired basic amino acid cleaving enzyme) 0.110325
MGAM maltase-glucoamylase 0.109758
PLK2 polo-like kinase 2 0.109247
CLU clusterin 0.108694
FLAD1 flavin adenine dinucleotide synthetase 1 0.108628
MYH11 myosin, heavy chain 11, smooth muscle 0.10853
TMBIM4 transmembrane BAX inhibitor motif containing 4 0.107498
NOX4 NADPH oxidase 4 0.107329
NLRP3 NLR family, pyrin domain containing 3 0.107295
CDH5 cadherin 5, type 2 (vascular endothelium) 0.10706
HSD17B10 hydroxysteroid (17-beta) dehydrogenase 10 0.106853
BAGE2 B melanoma antigen family, member 2 0.106403
TNFSF8 tumor necrosis factor (ligand) superfamily, member 8 0.105988
SCGB1A1 secretoglobin, family 1A, member 1 (uteroglobin) 0.105563
IL6R interleukin 6 receptor 0.10535
FCGRT Fc fragment of IgG, receptor, transporter, alpha 0.10535
CADM1 cell adhesion molecule 1 0.10535
MIA melanoma inhibitory activity 0.105314
GSTM2 glutathione S-transferase mu 2 (muscle) 0.105314
GRB2 growth factor receptor-bound protein 2 0.104852
TMPO thymopoietin 0.104744
ANK1 ankyrin 1, erythrocytic 0.104379
ERAS ES cell expressed Ras 0.104088
CD5 CD5 molecule 0.103501
HPSE heparanase 0.103501
DDC dopa decarboxylase (aromatic L-amino acid decarboxylase) 0.103351
SERPING1 serpin peptidase inhibitor, clade G (C1 inhibitor), member 1 0.102109
SERPINA5 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5 0.10207
MSR1 macrophage scavenger receptor 1 0.101879
CD6 CD6 molecule 0.101305
CD163 CD163 molecule 0.100325
HHAT hedgehog acyltransferase 0.099971
HEXDC hexosaminidase (glycosyl hydrolase family 20, catalytic domain) containing 0.09969
CALM3 calmodulin 3 (phosphorylase kinase, delta) 0.09965
CALM2 calmodulin 2 (phosphorylase kinase, delta) 0.09961
ITK IL2-inducible T-cell kinase 0.098969
CALM1 calmodulin 1 (phosphorylase kinase, delta) 0.098969
ANXA5 annexin A5 0.098604
NPHS1 nephrosis 1, congenital, Finnish type (nephrin) 0.098153
GJA4 gap junction protein, alpha 4, 37kDa 0.097866
BMP2 bone morphogenetic protein 2 0.097784
GLS2 glutaminase 2 (liver, mitochondrial) 0.097743
NAGA N-acetylgalactosaminidase, alpha- 0.097621
MBTPS1 membrane-bound transcription factor peptidase, site 1 0.097372
QDPR quinoid dihydropteridine reductase 0.097246
PTGER4 prostaglandin E receptor 4 (subtype EP4) 0.096828
DNAH8 dynein, axonemal, heavy chain 8 0.095303
S100A9 S100 calcium binding protein A9 0.095218
CYSLTR2 cysteinyl leukotriene receptor 2 0.095175
AHCY adenosylhomocysteinase 0.093962
ICAM2 intercellular adhesion molecule 2 0.093527
F12 coagulation factor XII (Hageman factor) 0.093173
TGFB2 transforming growth factor, beta 2 0.092596
SIRPA signal-regulatory protein alpha 0.092418
BTC betacellulin 0.092108
CBS cystathionine-beta-synthase 0.091927
IFNG interferon, gamma 0.091927
TFAP2A transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha) 0.091385
CYP2E1 cytochrome P450, family 2, subfamily E, polypeptide 1 0.091385
UBA52 ubiquitin A-52 residue ribosomal protein fusion product 1 0.09134
PTGDR prostaglandin D2 receptor (DP) 0.090889
PLG plasminogen 0.090708
FADS2 fatty acid desaturase 2 0.090663
CD48 CD48 molecule 0.090433
CD200 CD200 molecule 0.090065
BANF1 barrier to autointegration factor 1 0.089973
AMY2A amylase, alpha 2A (pancreatic) 0.08979