FLT3 (fms related receptor tyrosine kinase 3)

Gene

• Entrez ID: 2322
• Gene name: Fms related receptor tyrosine kinase 3
• Gene symbol: FLT3
• Synonyms (NCBI Gene): CD135, FLK-2, FLK2, STK1
• Chromosome: 13
• Chromosome location: 13q12.2
• Summary: This gene encodes a class III receptor tyrosine kinase that regulates hematopoiesis. This receptor is activated by binding of the fms-related tyrosine kinase 3 ligand to the extracellular domain, which induces homodimer formation in the plasma membrane le

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs121909646	T>A,G	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs121913232	G>C	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs121913486	ATC>-	Pathogenic-likely-pathogenic	Inframe deletion, non coding transcript variant, coding sequence variant
rs121913487	A>C,T	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs121913488	C>A,G,T	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs121913490	GAT>-	Likely-pathogenic	Inframe deletion, non coding transcript variant, coding sequence variant
rs121913491	T>C	Likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs376588714	T>C	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs398122514	->TCCGGA	Pathogenic	Coding sequence variant, non coding transcript variant, inframe insertion
rs587776834	TCA>-	Pathogenic	Non coding transcript variant, inframe deletion, coding sequence variant
rs749281035	G>A,T	Likely-pathogenic	Non coding transcript variant, synonymous variant, missense variant, coding sequence variant
rs772061268	T>G	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs864321619	->CATATTCTCTGAAATCAACGT	Pathogenic	Inframe insertion, coding sequence variant, non coding transcript variant
rs991132188	T>C	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs1057519726	T>A,C,G	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs1057519762	A>G	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs1057519763	TC>AA	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs1057519764	A>C,T	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs1057519765	T>A,C	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs1057519766	G>C,T	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs1057519767	T>C	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs1057519768	T>C	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs1057519769	C>A	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs1057520021	A>C,G	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs1057520022	A>G	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs1057520023	A>C	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs1057520024	T>C	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs1057520025	A>G	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs1057520026	T>G	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs1057520043	A>C	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs1208575764	A>G	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs1555256794	G>-	Drug-response	5 prime UTR variant, frameshift variant, coding sequence variant, non coding transcript variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT007053	hsa-miR-150-5p	Luciferase reporter assay	23079661
MIRT017462	hsa-miR-335-5p	Microarray	18185580
MIRT999065	hsa-miR-15a	CLIP-seq
MIRT999066	hsa-miR-15b	CLIP-seq
MIRT999067	hsa-miR-16	CLIP-seq
MIRT999068	hsa-miR-195	CLIP-seq
MIRT999069	hsa-miR-3161	CLIP-seq
MIRT999070	hsa-miR-424	CLIP-seq
MIRT999071	hsa-miR-4299	CLIP-seq
MIRT999072	hsa-miR-4456	CLIP-seq
MIRT999073	hsa-miR-497	CLIP-seq
MIRT999074	hsa-miR-548q	CLIP-seq
MIRT999065	hsa-miR-15a	CLIP-seq
MIRT999066	hsa-miR-15b	CLIP-seq
MIRT999067	hsa-miR-16	CLIP-seq
MIRT999068	hsa-miR-195	CLIP-seq
MIRT999069	hsa-miR-3161	CLIP-seq
MIRT999070	hsa-miR-424	CLIP-seq
MIRT999071	hsa-miR-4299	CLIP-seq
MIRT999072	hsa-miR-4456	CLIP-seq
MIRT999073	hsa-miR-497	CLIP-seq
MIRT999074	hsa-miR-548q	CLIP-seq
MIRT2681049	hsa-miR-3140-3p	CLIP-seq
MIRT2681050	hsa-miR-3924	CLIP-seq
MIRT2681051	hsa-miR-4699-3p	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
PML	Activation	17124055
STAT3	Activation	16418395

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0001776	Process	Leukocyte homeostasis	ISS
GO:0002318	Process	Myeloid progenitor cell differentiation	ISS
GO:0002328	Process	Pro-B cell differentiation	ISS
GO:0004672	Function	Protein kinase activity	IEA
GO:0004713	Function	Protein tyrosine kinase activity	IEA
GO:0004713	Function	Protein tyrosine kinase activity	TAS
GO:0004714	Function	Transmembrane receptor protein tyrosine kinase activity	IBA
GO:0004714	Function	Transmembrane receptor protein tyrosine kinase activity	IEA
GO:0004714	Function	Transmembrane receptor protein tyrosine kinase activity	TAS	19549778
GO:0004888	Function	Transmembrane signaling receptor activity	IEA
GO:0004896	Function	Cytokine receptor activity	ISS
GO:0005021	Function	Vascular endothelial growth factor receptor activity	TAS	8394751
GO:0005515	Function	Protein binding	IPI	16982329, 20098747, 23246379, 24525236, 27458164, 28086240
GO:0005524	Function	ATP binding	IEA
GO:0005783	Component	Endoplasmic reticulum	IDA
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005788	Component	Endoplasmic reticulum lumen	IEA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	TAS	8394751
GO:0007166	Process	Cell surface receptor signaling pathway	IEA
GO:0007169	Process	Cell surface receptor protein tyrosine kinase signaling pathway	IBA
GO:0007169	Process	Cell surface receptor protein tyrosine kinase signaling pathway	IEA
GO:0007169	Process	Cell surface receptor protein tyrosine kinase signaling pathway	TAS	7507245
GO:0008284	Process	Positive regulation of cell population proliferation	IBA
GO:0008284	Process	Positive regulation of cell population proliferation	TAS	7507245, 19549778
GO:0010008	Component	Endosome membrane	TAS
GO:0010604	Process	Positive regulation of macromolecule metabolic process	IEA
GO:0016020	Component	Membrane	IEA
GO:0016301	Function	Kinase activity	IEA
GO:0016477	Process	Cell migration	IBA
GO:0016740	Function	Transferase activity	IEA
GO:0018108	Process	Peptidyl-tyrosine phosphorylation	TAS	19549778
GO:0019221	Process	Cytokine-mediated signaling pathway	IBA
GO:0019221	Process	Cytokine-mediated signaling pathway	ISS
GO:0019221	Process	Cytokine-mediated signaling pathway	TAS
GO:0019838	Function	Growth factor binding	IBA
GO:0030097	Process	Hemopoiesis	IDA	7507245
GO:0030097	Process	Hemopoiesis	IEA
GO:0030183	Process	B cell differentiation	IBA
GO:0030183	Process	B cell differentiation	ISS
GO:0032991	Component	Protein-containing complex	IEA
GO:0035259	Function	Nuclear glucocorticoid receptor binding	IEA
GO:0035726	Process	Common myeloid progenitor cell proliferation	ISS
GO:0038084	Process	Vascular endothelial growth factor signaling pathway	IEA
GO:0042531	Process	Positive regulation of tyrosine phosphorylation of STAT protein	TAS	19549778
GO:0042981	Process	Regulation of apoptotic process	TAS	19549778
GO:0043235	Component	Receptor complex	IBA
GO:0043406	Process	Positive regulation of MAP kinase activity	TAS	19549778
GO:0043410	Process	Positive regulation of MAPK cascade	TAS	19549778
GO:0044877	Function	Protein-containing complex binding	IEA
GO:0046651	Process	Lymphocyte proliferation	ISS
GO:0046777	Process	Protein autophosphorylation	TAS	19549778
GO:0051897	Process	Positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	TAS	12951584
GO:0071345	Process	Cellular response to cytokine stimulus	ISS
GO:0071345	Process	Cellular response to cytokine stimulus	TAS	19549778
GO:0071385	Process	Cellular response to glucocorticoid stimulus	IEA
GO:0097028	Process	Dendritic cell differentiation	ISS
GO:0097421	Process	Liver regeneration	IEA
GO:0141038	Function	Phosphatidylinositol 3-kinase activator activity	TAS	12951584

Other IDs

• MIM: 136351
• HGNC: 3765
• e!Ensembl: ENSG00000122025

Protein

• UniProt ID: P36888
• Protein name: Receptor-type tyrosine-protein kinase FLT3 (EC 2.7.10.1) (FL cytokine receptor) (Fetal liver kinase-2) (FLK-2) (Fms-like tyrosine kinase 3) (FLT-3) (Stem cell tyrosine kinase 1) (STK-1) (CD antigen CD135)
• Protein function: Tyrosine-protein kinase that acts as a cell-surface receptor for the cytokine FLT3LG and regulates differentiation, proliferation and survival of hematopoietic progenitor cells and of dendritic cells. Promotes phosphorylation of SHC1 and AKT1, a
• PDB: 1RJB, 3QS7, 3QS9, 4RT7, 4XUF, 5X02, 6IL3, 6JQR, 7QDP, 7ZV9, 8XB1
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00047	ig	255 → 345	Immunoglobulin domain	Domain
  PF07714	PK_Tyr_Ser-Thr	610 → 943	Protein tyrosine and serine/threonine kinase	Domain

• Tissue specificity: TISSUE SPECIFICITY: Detected in bone marrow, in hematopoietic stem cells, in myeloid progenitor cells and in granulocyte/macrophage progenitor cells (at protein level). Detected in bone marrow, liver, thymus, spleen and lymph node, and at low levels in ki
• Sequence:

  MPALARDGGQLPLLVVFSAMIFGTITNQDLPVIKCVLINHKNNDSSVGKSSSYPMVSESP
  EDLGCALRPQSSGTVYEAAAVEVDVSASITLQVLVDAPGNISCLWVFKHSSLNCQPHFDL
  QNRGVVSMVILKMTETQAGEYLLFIQSEATNYTILFTVSIRNTLLYTLRRPYFRKMENQD
  ALVCISESVPEPIVEWVLCDSQGESCKEESPAVVKKEEKVLHELFGTDIRCCARNELGRE
  CTRLFTIDLNQTPQTTLPQLFLKVGEPLWIRCKAVHVNHGFGLTWELENKALEEGNYFEM
  STYSTNRTMIRILFAFVSSVARNDTGYYTCSSSKHPSQSALVTIVEKGFINATNSSEDYE
  IDQYEEFCFSVRFKAYPQIRCTWTFSRKSFPCEQKGLDNGYSISKFCNHKHQPGEYIFHA
  ENDDAQFTKMFTLNIRRKPQVLAEASASQASCFSDGYPLPSWTWKKCSDKSPNCTEEITE
  GVWNRKANRKVFGQWVSSSTLNMSEAIKGFLVKCCAYNSLGTSCETILLNSPGPFPFIQD
  NISFYATIGVCLLFIVVLTLLICHKYKKQFRYESQLQMVQVTGSSDNEYFYVDFREYEYD
  LKWEFPRENLEFGKVLGSGAFGKVMNATAYGISKTGVSIQVAVKMLKEKADSSEREALMS
  ELKMMTQLGSHENIVNLLGACTLSGPIYLIFEYCCYGDLLNYLRSKREKFHRTWTEIFKE
  HNFSFYPTFQSHPNSSMPGSREVQIHPDSDQISGLHGNSFHSEDEIEYENQKRLEEEEDL
  NVLTFEDLLCFAYQVAKGMEFLEFKSCVHRDLAARNVLVTHGKVVKICDFGLARDIMSDS
  NYVVRGNARLPVKWMAPESLFEGIYTIKSDVWSYGILLWEIFSLGVNPYPGIPVDANFYK
  LIQNGFKMDQPFYATEEIYIIMQSCWAFDSRKRPSFPNLTSFLGCQLADAEEAMYQNVDG
  RVSECPHTYQNRRPFSREMDLGLLSPQAQVEDS

• Sequence length: 993

Pathways

KEGG:

MAPK signaling pathway
Ras signaling pathway
PI3K-Akt signaling pathway
Hematopoietic cell lineage
Pathways in cancer
Transcriptional misregulation in cancer
Acute myeloid leukemia
Central carbon metabolism in cancer

Reactome:

PI3K Cascade
RAF/MAP kinase cascade
FLT3 Signaling

Associated diseases

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Acute lymphoid leukemia	Pathogenic	rs121909646, rs121913488, rs587776834	RCV000017661 RCV000017666 RCV000017668
Acute myeloid leukemia	Likely pathogenic; Pathogenic	rs2137622655, rs398122514, rs121909646, rs121913488, rs121913486, rs121913487, rs121913491	RCV003314385 RCV000017659 RCV000017660 RCV000017662 RCV000017663 RCV000017665 RCV000017667 RCV000424615 RCV006252530
Multiple myeloma	Likely pathogenic	rs1208575764	RCV000984136
Myelodysplastic syndrome progressed to acute myeloid leukemia	Pathogenic	rs864321619	RCV000203482

Unknown
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Cervical cancer	Benign	rs80133756	RCV005918448
Cholangiocarcinoma	Benign	rs2491225	RCV005923653
Familial cancer of breast	Benign; Likely benign	rs2491225, rs56300022	RCV005923652 RCV005907685
FLT3-related disorder	Benign; Likely benign	rs34374211, rs35602083, rs141860068, rs371992934, rs201256911, rs61729144, rs41291684	RCV003980769 RCV003915207 RCV003964075 RCV003949779 RCV003949452 RCV003958181 RCV003968234
Lung cancer	Benign	rs80133756	RCV005918450
Malignant tumor of esophagus	Benign	rs61944199, rs74041526	RCV005915380 RCV005889544
Neoplasm	Benign	rs1933437	RCV004668784
Ovarian serous cystadenocarcinoma	Benign	rs61944199	RCV005915381
Sarcoma	Benign	rs80133756	RCV005918449
Thyroid cancer, nonmedullary, 1	Benign	rs74041526	RCV005889545
Uterine carcinosarcoma	Benign	rs12427992	RCV005920344
Uterine corpus endometrial carcinoma	Benign	rs61944199, rs74041526	RCV005915382 RCV005889546

Associations from Text Mining
Disease Name	Relationship Type	References
Abnormalities Drug Induced	Associate	16938118, 25441683
Acute erythroleukemia	Associate	11091200, 12036858, 28108543
Adenocarcinoma	Associate	26315110, 26317919, 36357817, 36670542
Adenocarcinoma Follicular	Associate	16570574
Adenocarcinoma of Lung	Associate	32337264, 38327131
Adenoma	Associate	16570574, 31248021
Adenosarcoma of the uterus	Associate	28690098
Alcoholic Intoxication	Stimulate	35281004
Androgen Insensitivity Syndrome	Associate	16912228, 34876631
Anemia Hemolytic	Associate	29859851
Anemia Refractory with Excess of Blasts	Associate	17550846, 23115106
Arthritis Rheumatoid	Associate	17550846, 24314260, 35470158
Ataxia Telangiectasia	Associate	8562934
Autoimmune Diseases	Associate	35876828
Blast Injuries	Associate	15585651, 25615838
Bone Diseases Metabolic	Associate	26390436
Brain Edema	Associate	32243411
Brain Injuries Traumatic	Associate	35281004
Breast Neoplasms	Associate	35381768, 35864548, 37643511, 39512680, 40696656
Carcinogenesis	Associate	32048621
Carcinoma Hepatocellular	Associate	35062934
Carcinoma Non Small Cell Lung	Associate	35753125, 38327131
Carcinoma Squamous Cell	Associate	29980281, 30446465, 38327131
Cardiotoxicity	Associate	32336675
CD59 Deficiency	Associate	35876828
Cerebral Hemorrhage	Associate	32243411
Chromosome 8 trisomy	Associate	35549661
Chromosome Aberrations	Associate	22734072, 24297940, 25441683, 32243411
Chromosome Duplication	Associate	33909614
Chromothripsis	Associate	27741277
Colorectal Neoplasms	Associate	24651453, 27906677, 28675510, 31782259, 33075166
Coma	Associate	32243411
Coronavirus Infections	Associate	37758692
Cyclic neutropenia	Associate	26244574, 29859851
Cytokine Release Syndrome	Associate	35705524
Death	Associate	17454189, 19491417, 21372155, 22378655, 25802479, 28318095, 29859851, 30715157, 32243411, 35485701, 35794567
digital ulcers	Associate	35876828
Disease	Stimulate	18537976
Disease	Associate	26078355, 26446915
Drug Hypersensitivity	Associate	24367670
Drug Related Side Effects and Adverse Reactions	Associate	15166029, 16868253, 17359372, 18341639, 19029442, 20007803, 22689683, 25640477, 26244574, 27391351, 28061447, 29699481, 33119202, 34424108
Dyskinesia Drug Induced	Associate	26446915, 37085611
Early Onset Glaucoma	Associate	32243411
Emanuel syndrome	Associate	15982343
Encephalitis Herpes Simplex	Associate	32333156
Encephalitis Tick Borne	Associate	29090343, 30521114, 33879827, 34981570
Eosinophilia	Associate	21705501, 33990705, 40474715
Ependymoma	Associate	32612806
Esophageal Squamous Cell Carcinoma	Associate	24936140
Febrile Neutropenia	Associate	29859851
Fever	Associate	29859851
Follicular Cyst	Associate	31248021
Fractures Bone	Associate	17620055
Gastrointestinal Stromal Tumors	Associate	15297464
GATA2 Deficiency	Associate	20733134
Glioblastoma	Associate	25256166
Goiter Nodular	Associate	16570574
Graft vs Host Disease	Associate	22766221, 26351297
Graves Disease	Associate	36012751
Hemangioblastoma	Associate	26768750
Hematologic Neoplasms	Associate	20849840, 23167384, 23497317, 30320942
Hemolysis	Associate	36229877
Hepatitis B	Associate	18925699, 26883104
Hepatitis B	Stimulate	8562934
Histiocytosis Langerhans Cell	Associate	32750121
Hypersensitivity Immediate	Stimulate	33681815
Hypoxia	Associate	23036488
Hypoxia	Inhibit	26617391
Hypoxia Brain	Associate	23036488
Infarction Anterior Cerebral Artery	Associate	22734072
Influenza Human	Associate	37758692
Internal Hernia	Associate	12842996, 32333156
Isodicentric Chromosome 15 Syndrome	Associate	12780793
Leukemia	Associate	12351406, 12791658, 12842996, 1384791, 14504097, 14726387, 15304385, 15345597, 15374878, 15781338, 16446383, 16709517, 16902153, 17119119, 17387224, 17392978, 18024405, 18394702, 19042917, 19808698, 20875128, 21040219, 21048955, 21227398, 21520003, 21552520, 21765192, 21789382, 21868571, 21948175, 22142798, 22514634, 22911473, 23359050, 23497317, 23536721, 23733339, 23878140, 24164801, 24175822, 24786392, 25640477, 25776192, 26345285, 26438695, 26462154, 26676635, 26686245, 26819054, 27465508, 29257272, 29615816, 30450744, 30737839, 30923103, 31102119, 31606550, 31936647, 32131829, 32296014, 32409689, 32414851, 32460405, 32843624, 32898396, 33410599, 33631087, 34263728, 34641328, 34665271, 35048553, 35323440, 35794565, 36220999, 36481875, 37245251, 37591941, 37995643, 38179723, 39236794, 39408703, 40181449, 8394751, 8562934
Leukemia	Stimulate	35950535
Leukemia B Cell	Associate	18663058
Leukemia Biphenotypic Acute	Associate	32164600, 36219502
Leukemia Lymphocytic Chronic B Cell	Associate	21979753, 37428863
Leukemia Lymphoma Adult T Cell	Associate	18925699
Leukemia Monocytic Acute	Associate	29843647, 32216042, 32277682
Leukemia Myelogenous Chronic BCR ABL Positive	Associate	15514006, 17764812, 18925699, 23497317, 23796006, 30559310, 8562934
Leukemia Myeloid	Associate	14604973, 17379095, 17686054, 19255975, 28108543, 29257272, 30559310, 36407352, 7492767, 8896403
Leukemia Myeloid Acute	Associate	10216104, 10233379, 11133746, 11369655, 11468194, 11535508, 12036858, 12070009, 12115363, 12239146, 12239147, 12351377, 12351406, 12393381, 12393388, 12417757, 12702504, 12707374, 12791658, 12816873, 12842996, 12969963, 1384791, 14504097, 14592841, 14604973, 14670924, 14726387, 14976243, 15044257, 15166029, 15178581, 15251987, 15269297, 15297464, 15304385, 15345597, 15514006, 15536149, 15574429, 15585651, 15659725, 15781338, 16076872, 16109776, 16150941, 16304372, 16368883, 16403905, 16446383, 16630339, 16757411, 16809615, 16857985, 16868253, 16902153, 16912228, 16920565, 16982329, 17047150, 17105820, 17119119, 17229632, 17379095, 17387224, 17392978, 17440048, 17456725, 17494858, 17498302, 17550846, 17650443, 17889720, 17940205, 17957027, 17965322, 18192505, 18252861, 18270328, 18305215, 18337557, 18394702, 18450602, 18450603, 18536654, 18641025, 18664261, 18809607, 18838472, 18925699, 18955790, 19016738, 19029442, 19042917, 19289855, 19389879, 19463770, 19602710, 19672946, 19775300, 19808698, 19878996, 20007803, 20119833, 20203266, 20380868, 20425795, 20514303, 20581309, 20656931, 20670134, 20678218, 20733134, 20872983, 20952518, 20966504, 20971820, 21048955, 21067588, 21127174, 21133602, 21173122, 21177505, 21242187, 21245599, 21269566, 21324374, 21338238, 21343549, 21357706, 21471285, 21520003, 21523727, 21523728, 21552520, 21577323, 21586749, 21589872, 21596848, 21606167, 21696826, 21705501, 21765192, 21767516, 21791472, 21802138, 21813447, 21816375, 21868571, 21881046, 21948175, 21967978, 21980431, 22096027, 22126574, 22208491, 22212957, 22374696, 22378655, 22417203, 22507802, 22514634, 22532519, 22535592, 22562027, 22605576, 22627678, 22684224, 22689683, 22736495, 22766221, 22800464, 22807997, 22855599, 22911473, 22912701, 22983588, 23012328, 23036488, 23115106, 23115274, 23159595, 23167384, 23233446, 23321254, 23321257, 23377000, 23377436, 23430109, 23431389, 23480665, 23497317, 23530930, 23540998, 23542687, 23613521, 23616009, 23687091, 23740774, 23763915, 23840454, 23846441, 23878140, 23940660, 23941359, 24164801, 24175822, 24227820, 24288427, 24367670, 24376688, 24441149, 24495871, 24574459, 24623852, 24666762, 24667279, 24737502, 24786392, 24855211, 24881741, 24895580, 24923295, 25022553, 25111583, 25139215, 25145343, 25239228, 25240816, 25270908, 25281355, 25381129, 25400771, 25441683, 25530214, 25573287, 25605370, 25630528, 25640477, 25706398, 25713434, 25808347, 25834112, 25879624, 25932436, 25996952, 26078355, 26091827, 26108694, 26172401, 26191952, 26212328, 26234722, 26292723, 26351297, 26365931, 26375248, 26384303, 26419938, 26438511, 26446915, 26462154, 26515730, 26547258, 26547689, 26644412, 26676635, 26681050, 26686245, 26692109, 26704388, 26755712, 26776182, 26782640, 26899600, 26929621, 27040395, 27050425, 27054578, 27058617, 27062340, 27177049, 27248172, 27315441, 27346558, 27374090, 27391351, 27416910, 27465508, 27535106, 27667292, 27671675, 27760406, 27797237, 27872057, 27872058, 27983727, 27992414, 28052408, 28061447, 28108507, 28159598, 28222251, 28294102, 28318095, 28450419, 28460451, 28473620, 28490193, 28490572, 28522571, 28574487, 28625976, 28644114, 28667329, 28727840, 28767575, 28793301, 28830460, 28851457, 28858244, 28876197, 28895560, 28945881, 28960265, 29079128, 29080039, 29227282, 29227476, 29242299, 29286103, 29304116, 29403082, 29437468, 29463564, 29498106, 29509276, 29615816, 29625580, 29643105, 29669779, 29786546, 29875101, 29976747, 30028037, 30081867, 30082223, 30102945, 30181385, 30320942, 30341082, 30389660, 30450744, 30503388, 30510164, 30521114, 30541869, 30578743, 30661740, 30728457, 30737482, 30737839, 30862120, 30862724, 30898762, 30923103, 30926971, 31009704, 31085507, 31088841, 31102119, 31112736, 31122910, 31185600, 31237017, 31310323, 31350825, 31371409, 31373163, 31434952, 31450916, 31471587, 31484791, 31515354, 31554356, 31580501, 31606550, 31648336, 31650168, 31790499, 31816063, 31826241, 31834935, 31835432, 31876540, 31919040, 31936647, 31955503, 32024878, 32040554, 32102969, 32127641, 32203582, 32216042, 32243389, 32243411, 32296014, 32304015, 32330242, 32333156, 32366841, 32384149, 32391628, 32393312, 32409689, 32476595, 32547322, 32603763, 32675227, 32697348, 32699322, 32711425, 32712325, 32732356, 32748108, 32812818, 32815753, 32843624, 32855276, 32970934, 33032648, 33049054, 33094319, 33119202, 33149230, 33217852, 33280474, 33288862, 33340276, 33351131, 33368797, 33368881, 33375770, 33410599, 33429807, 33491606, 33494808, 33592069, 33592582, 33594943, 33598693, 33631087, 33632926, 33654065, 33654204, 33681815, 33784904, 33839881, 33853292, 33876209, 33914060, 33990705, 34001134, 34024909, 34064268, 34103301, 34111285, 34168220, 34171263, 34172833, 34289175, 34299222, 34303121, 34316017, 34320781, 34348451, 34360855, 34363558, 34363960, 34417240, 34424108, 34446858, 34446939, 34459465, 34479037, 34486940, 34487021, 34487645, 34516636, 34543390, 34555701, 34602526, 34608834, 34614509, 34635505, 34665271, 34671057, 34711001, 34729939, 34811450, 34830393, 34853270, 34876631, 34889359, 34941036, 34978724, 34980040, 34981560, 34981570, 35008106, 35017466, 35048553, 35063965, 35081255, 35119307, 35130342, 35176140, 35182882, 35249471, 35323440, 35332831, 35344039, 35349331, 35350997, 35364561, 35387260, 35395091, 35412895, 35440568, 35485701, 35523692, 35549661, 35562747, 35624145, 35637252, 35666642, 35760968, 35794565, 35794567, 35797240, 35797463, 35857899, 35900493, 35922444, 35943684, 35950535, 35967966, 35981498, 35994503, 36005563, 36081495, 36165652, 36220999, 36232688, 36248800, 36259537, 36271776, 36284445, 36307762, 36315929, 36351633, 36371552, 36376378, 36407352, 36450475, 36473282, 36481875, 36485136, 36498916, 36509894, 36526260, 36542496, 36575001, 36610002, 36647792, 36738279, 36793248, 36799265, 36808479, 36823555, 36835239, 36853451, 36861732, 36881031, 36964937, 36976323, 36977512, 36977823, 37019445, 37028555, 37060505, 37067914, 37085611, 37088992, 37140277, 37147301, 37180104, 37199372, 37245251, 37272552, 37392657, 37446914, 37459200, 37480164, 37558736, 37591941, 37606693, 37640797, 37658530, 37704613, 37715270, 37830151, 37833543, 37881860, 37904054, 37935978, 37948316, 37995643, 38002257, 38056299, 38095349, 38098254, 38132393, 38179723, 38203669, 38203816, 38277619, 38324741, 38471061, 38502195, 39182032, 39236794, 39273530, 39336484, 39337490, 39348668, 39361146, 39408703, 39417441, 39875995, 40156426, 40159434, 40181449, 40226311, 40346763, 40525981, 8562934
Leukemia Myeloid Acute	Stimulate	29257272
Leukemia Myeloid Chronic Atypical BCR ABL Negative	Associate	17764812
Leukemia Myelomonocytic Acute	Associate	11091200, 29688850
Leukemia Myelomonocytic Chronic	Associate	20880116, 23115106, 28102729, 30559310, 33990705, 34194582
Leukemia Myelomonocytic Juvenile	Associate	18024405
Leukemia Plasma Cell	Associate	35770320
Leukemia Promyelocytic Acute	Associate	11091200, 12115363, 12492581, 12973844, 15142116, 16029447, 16105978, 16619525, 17454189, 17456725, 17606455, 19109227, 19491417, 20133893, 20981678, 21685470, 21859732, 22378655, 22562027, 22734072, 24160850, 27063598, 27077772, 28125133, 30715157, 31292112, 32124426, 32243411, 32755558, 34077242, 34459465, 36539954, 36672788, 38095349
Leukemia T Cell	Associate	10233379, 15352981, 19035305, 19958352
Leukemic Infiltration	Associate	35319510
Leukocytosis	Associate	10216104, 11535508, 12842996
Light Fixation Seizure Syndrome	Associate	33990705
Liver Failure	Associate	29859851
Lymphatic Metastasis	Associate	31713298
Lymphohistiocytosis Hemophagocytic	Associate	29843647
Lymphoma	Associate	21705501, 33990705, 40474715, 40533930
Lymphoma B Cell Marginal Zone	Associate	30559310
Lymphoma T Cell	Associate	15044257
Mast Cell Activation Disorders	Associate	18663058
Mastocytosis Systemic	Associate	17229632, 18663058, 23497317
Melanoma Cutaneous Malignant	Associate	35300397
Meningeal Neoplasms	Associate	32711494
Mitochondrial Diseases	Associate	28420414
Mixed Tumor Malignant	Associate	16570574
Multiple Endocrine Neoplasia Type 2a	Associate	32411094
Muscular Dystrophy Duchenne	Associate	17620055
Myelodysplastic Myeloproliferative Diseases	Associate	30559310
Myelodysplastic Syndromes	Associate	15329908, 16787503, 16902153, 20678218, 20733134, 22571758, 23115106, 25530214, 26004809, 26547258, 27741277, 27992414, 28318095, 32476595, 32675227, 33275714, 33558656, 33990705, 34111285, 36380727
Neoplasm Metastasis	Stimulate	31129149
Neoplasm Metastasis	Associate	32711494
Neoplasm Residual	Associate	12239146, 12239147, 19042917, 25240816, 34516636
Neoplasms	Associate	11454991, 17229632, 18024405, 21705501, 21789382, 22162831, 23012328, 23497317, 24142997, 24895580, 25468431, 26438695, 27043212, 27683039, 27701467, 27741277, 27906677, 28420414, 28557599, 29615816, 30661740, 31248021, 31409745, 31535668, 31943770, 31978184, 32048621, 33909614, 34194582, 35464476, 36799265, 38327131, 39875995
Neoplasms	Inhibit	26547689
Neoplasms Germ Cell and Embryonal	Associate	25085632
Neoplasms Squamous Cell	Associate	36697489
Neuroblastoma	Associate	36037157, 37219000
Neuroinflammatory Diseases	Associate	33462189
Neutropenia	Associate	26244574, 29859851
Neutropenia Severe Congenital Autosomal Recessive 3	Associate	10590052
Obesity	Associate	31515354
Osteoporotic Fractures	Associate	17620055
Ovarian Neoplasms	Stimulate	31129149
Paraplegia	Associate	24881741
Paroxysmal nonkinesigenic dyskinesia	Associate	27906677
Pdgfra Associated Chronic Eosinophilic Leukemia	Associate	33990705
Pdgfrb Associated Chronic Eosinophilic Leukemia	Associate	30559310
Peritoneal Neoplasms	Associate	26811494
Pneumonia	Associate	29859851
POEMS Syndrome	Associate	27797237
Precursor B Cell Lymphoblastic Leukemia Lymphoma	Associate	23107779, 25802479, 32384149, 36214866
Precursor Cell Lymphoblastic Leukemia Lymphoma	Associate	1384791, 14604973, 14670924, 15044257, 15374878, 15956279, 15982343, 18024407, 18925699, 23167384, 26345285, 26883104, 27181063, 27683039, 28108543, 28408464, 28671688, 30737839, 32384149, 32818246, 33990705, 34778799, 36104354, 36214866, 39273530
Precursor Cell Lymphoblastic Leukemia Lymphoma	Stimulate	29257272, 35950535
Precursor T Cell Lymphoblastic Leukemia Lymphoma	Associate	10192423, 10233379, 10691863, 11091200, 12492581, 12780793, 14984498, 15352981, 15384974, 15667533, 16029448, 16115128, 16787503, 16869825, 16956345, 17359372, 18341639, 18373709, 18537976, 19183186, 19438505, 20148885, 20515557, 21040219, 21332708, 22150087, 22162831, 22237106, 22409268, 22504184, 22568493, 22571758, 22681934, 23359050, 23480665, 23603912, 23929599, 24116827, 24661089, 24708856, 24962064, 25371149, 25818407, 26163606, 26292723, 26617391, 26684393, 26847745, 27022003, 27434660, 27470916, 27748272, 28486748, 28645776, 28894287, 28984348, 29699481, 29859851, 30567513, 30942411, 30968396, 31244296, 31943770, 32015510, 32020596, 32155324, 32460405, 33410599, 33817952, 33971801, 34101344, 34446858, 34487645, 34857839, 35067150, 35549749, 35851970, 35880261, 36163632, 36191408, 36270471, 36281717, 36376888, 36380727, 37067758, 38049555, 38199214, 39293215, 40209351
Precursor T Cell Lymphoblastic Leukemia Lymphoma	Stimulate	8562934
Primary Myelofibrosis	Associate	12580961
Prostatic Neoplasms	Associate	27701467
Psychomotor Agitation	Associate	32243411
Rectal Neoplasms	Associate	36142267
Respiratory Tract Infections	Associate	28125133
Retinal Aplasia	Associate	32333156
Retinal Dysplasia	Associate	20581309
Sarcoma	Associate	27642091
Sarcoma Myeloid	Associate	15352981, 24881741, 30922345, 33990705, 36871023, 38095349
Scleroderma Systemic	Associate	35876828
Segawa syndrome autosomal recessive	Associate	22409268
Seizures	Associate	32243411
Sepsis	Associate	29859851
Sjogren's Syndrome	Associate	35705251
Skin Diseases	Associate	23687091
Small Cell Lung Carcinoma	Associate	37390276
Squamous Cell Carcinoma of Head and Neck	Associate	32048621
Stomach Neoplasms	Associate	26811494
Sweet Syndrome	Associate	23687091, 25630528, 34417240
Takotsubo Cardiomyopathy	Associate	36977512
Tetra amelia with ectodermal dysplasia and lacrimal duct abnormalities	Associate	14670924
Thrombocythemia Essential	Associate	17013813
Thrombocytopenia	Associate	29859851
Thyroid cancer follicular	Associate	31248021
Thyroid cancer medullary	Associate	32411094
Thyroid Cancer Papillary	Associate	16570574
Thyroid Neoplasms	Associate	16570574
Torsades de Pointes	Associate	29859851
Tourette Syndrome	Associate	33462189, 35354918, 36674940
Trisomy 13 Syndrome	Associate	17485549, 17650443
Tukel syndrome	Associate	22571758
Turner Syndrome	Associate	36733527
Uniparental Disomy	Stimulate	16757411
Uniparental Disomy	Associate	31375516
Urachal adenocarcinoma	Associate	36670542
Uremia	Associate	27018948
Wilms Tumor	Associate	21269566
X Linked Combined Immunodeficiency Diseases	Associate	12036858, 24441146, 28318095, 32020596