Mastocytosis Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description OMIM mapping confirmed by DO. [LS]. (Human Disease Ontology, DOID_350)
External Link https://www.disgenet.org/browser/0/1/0/C0024899
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Genes

156 genes associated with the disease Mastocytosis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
ABL1 ABL proto-oncogene 1, non-receptor tyrosine kinase
ABL2 ABL proto-oncogene 2, non-receptor tyrosine kinase
AKT1 v-akt murine thymoma viral oncogene homolog 1
ALK anaplastic lymphoma receptor tyrosine kinase
AR androgen receptor
ASXL1 additional sex combs like transcriptional regulator 1
BCL2 B-cell CLL/lymphoma 2
BCL2L1 BCL2-like 1
BCR breakpoint cluster region
BDNF brain-derived neurotrophic factor
BRAF B-Raf proto-oncogene, serine/threonine kinase
BRD4 bromodomain containing 4
CALR calreticulin
CASK calcium/calmodulin-dependent serine protein kinase (MAGUK family)
CASP3 caspase 3, apoptosis-related cysteine peptidase
CBFB core-binding factor, beta subunit
CBL Cbl proto-oncogene, E3 ubiquitin protein ligase
CCL2 chemokine (C-C motif) ligand 2
CCL26 chemokine (C-C motif) ligand 26
CD2 CD2 molecule
CD274 CD274 molecule
CD33 CD33 molecule
CD34 CD34 molecule
CD38 CD38 molecule
CD40LG CD40 ligand
CD44 CD44 molecule (Indian blood group)
CD47 CD47 molecule
CD52 CD52 molecule
CD72 CD72 molecule
CDA cytidine deaminase
CEACAM1 carcinoembryonic antigen-related cell adhesion molecule 1 (biliary glycoprotein)
CEBPZ CCAAT/enhancer binding protein (C/EBP), zeta
CEL carboxyl ester lipase
CHIC2 cysteine-rich hydrophobic domain 2
CLEC11A C-type lectin domain family 11, member A
CLEC4D C-type lectin domain family 4, member D
CLU clusterin
CPA3 carboxypeptidase A3 (mast cell)
CPA4 carboxypeptidase A4
ENPP3 ectonucleotide pyrophosphatase/phosphodiesterase 3
EPO erythropoietin
ETNK1 ethanolamine kinase 1
FCER2 Fc fragment of IgE, low affinity II, receptor for (CD23)
FGFR1 fibroblast growth factor receptor 1
FH fumarate hydratase
FIP1L1 factor interacting with PAPOLA and CPSF1
FLT3 fms-related tyrosine kinase 3
FOXF1 forkhead box F1
HBM hemoglobin, mu
HDC histidine decarboxylase
HMOX1 heme oxygenase 1
HSPG2 heparan sulfate proteoglycan 2
IDH2 isocitrate dehydrogenase 2 (NADP+), mitochondrial
IFNA1 interferon, alpha 1
IFNA13 interferon, alpha 13
IKZF1 IKAROS family zinc finger 1 (Ikaros)
IL13 interleukin 13
IL2RA interleukin 2 receptor, alpha
IL3 interleukin 3
IL31 interleukin 31
IL33 interleukin 33
IL37 interleukin 37
IL3RA interleukin 3 receptor, alpha (low affinity)
IL4 interleukin 4
IL4R interleukin 4 receptor
IL5 interleukin 5
IL6 interleukin 6
IL6R interleukin 6 receptor
IL9 interleukin 9
ISG20 interferon stimulated exonuclease gene 20kDa
ISM1 isthmin 1, angiogenesis inhibitor
ITGA5 integrin, alpha 5 (fibronectin receptor, alpha polypeptide)
ITGAV integrin, alpha V
JAK2 Janus kinase 2
KIDINS220 kinase D-interacting substrate, 220kDa
KIR2DL4 killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 4
KIT v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
KITLG KIT ligand
KRAS Kirsten rat sarcoma viral oncogene homolog
KRT14 keratin 14, type I
LIN28B lin-28 homolog B (C. elegans)
LOC102724594 splicing factor U2AF 35 kDa subunit
MAP2K7 mitogen-activated protein kinase kinase 7
MCAT malonyl CoA:ACP acyltransferase (mitochondrial)
MCL1 myeloid cell leukemia 1
MCPH1 microcephalin 1
MITF microphthalmia-associated transcription factor
MPL MPL proto-oncogene, thrombopoietin receptor
MTOR mechanistic target of rapamycin (serine/threonine kinase)
MYH11 myosin, heavy chain 11, smooth muscle
NELL2 NEL-like 2 (chicken)
NGF nerve growth factor (beta polypeptide)
NOS1 nitric oxide synthase 1 (neuronal)
NOS2 nitric oxide synthase 2, inducible
NPM1 nucleophosmin (nucleolar phosphoprotein B23, numatrin)
NR0B2 nuclear receptor subfamily 0, group B, member 2
NRAS neuroblastoma RAS viral (v-ras) oncogene homolog
NRP2 neuropilin 2
NTRK1 neurotrophic tyrosine kinase, receptor, type 1
OSM oncostatin M
PARK7 parkinson protein 7
PDCD1 programmed cell death 1
PDGFRA platelet-derived growth factor receptor, alpha polypeptide
PDGFRB platelet-derived growth factor receptor, beta polypeptide
PLK1 polo-like kinase 1
PRKG2 protein kinase, cGMP-dependent, type II
PTPN11 protein tyrosine phosphatase, non-receptor type 11
PTPN6 protein tyrosine phosphatase, non-receptor type 6
PTPRC protein tyrosine phosphatase, receptor type, C
RASGRP4 RAS guanyl releasing protein 4
RERE arginine-glutamic acid dipeptide (RE) repeats
RPL17 ribosomal protein L17
RPL17-C18ORF32 RPL17-C18orf32 readthrough
RUNX1 runt-related transcription factor 1
RUNX1T1 runt-related transcription factor 1; translocated to, 1 (cyclin D-related)
RUNX2 runt-related transcription factor 2
SERPINB6 serpin peptidase inhibitor, clade B (ovalbumin), member 6
SETD2 SET domain containing 2
SF3B1 splicing factor 3b, subunit 1, 155kDa
SIRPA signal-regulatory protein alpha
SLAMF8 SLAM family member 8
SLC16A1 solute carrier family 16 (monocarboxylate transporter), member 1
SMN1 survival of motor neuron 1, telomeric
SMN2 survival of motor neuron 2, centromeric
SMPD1 sphingomyelin phosphodiesterase 1, acid lysosomal
SNCA synuclein, alpha (non A4 component of amyloid precursor)
SOAT1 sterol O-acyltransferase 1
SPATA2 spermatogenesis associated 2
SRSF2 serine/arginine-rich splicing factor 2
SST somatostatin
STAT3 signal transducer and activator of transcription 3 (acute-phase response factor)
STAT5A signal transducer and activator of transcription 5A
STAT5B signal transducer and activator of transcription 5B
TAC1 tachykinin, precursor 1
TACR1 tachykinin receptor 1
TET2 tet methylcytosine dioxygenase 2
TLR2 toll-like receptor 2
TLR3 toll-like receptor 3
TLR4 toll-like receptor 4
TLR9 toll-like receptor 9
TNFRSF10A tumor necrosis factor receptor superfamily, member 10a
TNFRSF11B tumor necrosis factor receptor superfamily, member 11b
TNFRSF8 tumor necrosis factor receptor superfamily, member 8
TNFSF10 tumor necrosis factor (ligand) superfamily, member 10
TNFSF11 tumor necrosis factor (ligand) superfamily, member 11
TNFSF8 tumor necrosis factor (ligand) superfamily, member 8
TPM3 tropomyosin 3
TPSAB1 tryptase alpha/beta 1
TPSB2 tryptase beta 2 (gene/pseudogene)
TPSD1 tryptase delta 1
TPT1 tumor protein, translationally-controlled 1
TRPV1 transient receptor potential cation channel, subfamily V, member 1
U2AF1 U2 small nuclear RNA auxiliary factor 1
UBE2N ubiquitin-conjugating enzyme E2N
VIP vasoactive intestinal peptide
ZMYND10 zinc finger, MYND-type containing 10