JAK2 (Janus kinase 2)

Gene

• Entrez ID: 3717
• Gene name: Janus kinase 2
• Gene symbol: JAK2
• Synonyms (NCBI Gene): JTK10
• Chromosome: 9
• Chromosome location: 9p24.1
• Summary: This gene encodes a non-receptor tyrosine kinase that plays a central role in cytokine and growth factor signalling. The primary isoform of this protein has an N-terminal FERM domain that is required for erythropoietin receptor association, an SH2 domain

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT000707	hsa-miR-135a-5p	Luciferase reporter assay, Western blot	19666866
MIRT000707	hsa-miR-135a-5p	Luciferase reporter assay	19666866
MIRT001749	hsa-miR-375	Luciferase reporter assay, Western blot	20548334
MIRT001749	hsa-miR-375	Luciferase reporter assay, Western blot	20548334
MIRT001749	hsa-miR-375	Luciferase reporter assay, Western blot	20548334
MIRT001749	hsa-miR-375	Luciferase reporter assay, Western blot	20548334
MIRT001749	hsa-miR-375	Luciferase reporter assay, Western blot	20548334
MIRT001749	hsa-miR-375	Luciferase reporter assay, Western blot	20548334
MIRT001749	hsa-miR-375	Luciferase reporter assay, Western blot	20548334
MIRT001749	hsa-miR-375	Luciferase reporter assay, Western blot	20548334
MIRT017973	hsa-miR-335-5p	Microarray	18185580
MIRT001749	hsa-miR-375	Reporter assay;Western blot	20548334
MIRT001749	hsa-miR-375	Reporter assay	15806104
MIRT051067	hsa-miR-16-5p	CLASH	23622248
MIRT044858	hsa-miR-195-5p	CLASH	23622248
MIRT000707	hsa-miR-135a-5p	qRT-PCR, Western blot	22310976
MIRT000707	hsa-miR-135a-5p	qRT-PCR, Western blot	22310976
MIRT001749	hsa-miR-375	Immunohistochemistry, Luciferase reporter assay, qRT-PCR, Western blot	24718681
MIRT001749	hsa-miR-375	Immunohistochemistry, Luciferase reporter assay, qRT-PCR, Western blot	24718681
MIRT001749	hsa-miR-375	Luciferase reporter assay, qRT-PCR	25055044
MIRT678309	hsa-miR-5692a	HITS-CLIP	22927820
MIRT623561	hsa-miR-8485	HITS-CLIP	22927820
MIRT628089	hsa-miR-548as-3p	HITS-CLIP	22927820
MIRT623561	hsa-miR-8485	HITS-CLIP	22927820
MIRT628089	hsa-miR-548as-3p	HITS-CLIP	23313552
MIRT678309	hsa-miR-5692a	HITS-CLIP	23313552
MIRT623561	hsa-miR-8485	HITS-CLIP	23313552
MIRT628089	hsa-miR-548as-3p	HITS-CLIP	23313552
MIRT623561	hsa-miR-8485	HITS-CLIP	23313552
MIRT628089	hsa-miR-548as-3p	HITS-CLIP	23824327
MIRT623561	hsa-miR-8485	HITS-CLIP	23824327
MIRT628089	hsa-miR-548as-3p	HITS-CLIP	23824327
MIRT678309	hsa-miR-5692a	HITS-CLIP	23824327
MIRT623561	hsa-miR-8485	HITS-CLIP	23824327
MIRT678308	hsa-miR-568	HITS-CLIP	23824327
MIRT628089	hsa-miR-548as-3p	HITS-CLIP	23824327
MIRT623561	hsa-miR-8485	HITS-CLIP	23824327
MIRT628089	hsa-miR-548as-3p	HITS-CLIP	23824327
MIRT623561	hsa-miR-8485	HITS-CLIP	23824327
MIRT628089	hsa-miR-548as-3p	HITS-CLIP	23824327
MIRT623561	hsa-miR-8485	HITS-CLIP	23824327
MIRT628089	hsa-miR-548as-3p	HITS-CLIP	23824327
MIRT623561	hsa-miR-8485	HITS-CLIP	23824327
MIRT628089	hsa-miR-548as-3p	HITS-CLIP	23824327
MIRT623561	hsa-miR-8485	HITS-CLIP	23824327
MIRT628089	hsa-miR-548as-3p	HITS-CLIP	23824327
MIRT623561	hsa-miR-8485	HITS-CLIP	23824327
MIRT623561	hsa-miR-8485	HITS-CLIP	23824327
MIRT628089	hsa-miR-548as-3p	HITS-CLIP	23824327
MIRT623561	hsa-miR-8485	HITS-CLIP	23824327
MIRT379479	hsa-miR-101-3p	Luciferase reporter assay, qRT-PCR, Western blot	26498873
MIRT379479	hsa-miR-101-3p	Luciferase reporter assay, qRT-PCR, Western blot	26498873
MIRT001749	hsa-miR-375	Western blot	28186962
MIRT001749	hsa-miR-375	Luciferase reporter assay	28006751
MIRT379479	hsa-miR-101-3p	Flow, qRT-PCR	27517565
MIRT678309	hsa-miR-5692a	HITS-CLIP	27418678
MIRT623561	hsa-miR-8485	HITS-CLIP	27418678
MIRT001749	hsa-miR-375	ELISA, qRT-PCR, Western blotting	33938607
MIRT001749	hsa-miR-375	Luciferase reporter assay, Western blotting, qRT-PCR	32045921
MIRT678309	hsa-miR-5692a	HITS-CLIP	22927820
MIRT623561	hsa-miR-8485	HITS-CLIP	22927820
MIRT628089	hsa-miR-548as-3p	HITS-CLIP	22927820
MIRT623561	hsa-miR-8485	HITS-CLIP	22927820
MIRT628089	hsa-miR-548as-3p	HITS-CLIP	23313552
MIRT678309	hsa-miR-5692a	HITS-CLIP	23313552
MIRT623561	hsa-miR-8485	HITS-CLIP	23313552
MIRT628089	hsa-miR-548as-3p	HITS-CLIP	23313552
MIRT623561	hsa-miR-8485	HITS-CLIP	23313552
MIRT628089	hsa-miR-548as-3p	HITS-CLIP	23824327
MIRT623561	hsa-miR-8485	HITS-CLIP	23824327
MIRT628089	hsa-miR-548as-3p	HITS-CLIP	23824327
MIRT678309	hsa-miR-5692a	HITS-CLIP	23824327
MIRT623561	hsa-miR-8485	HITS-CLIP	23824327
MIRT678308	hsa-miR-568	HITS-CLIP	23824327
MIRT628089	hsa-miR-548as-3p	HITS-CLIP	23824327
MIRT623561	hsa-miR-8485	HITS-CLIP	23824327
MIRT628089	hsa-miR-548as-3p	HITS-CLIP	23824327
MIRT623561	hsa-miR-8485	HITS-CLIP	23824327
MIRT628089	hsa-miR-548as-3p	HITS-CLIP	23824327
MIRT623561	hsa-miR-8485	HITS-CLIP	23824327
MIRT628089	hsa-miR-548as-3p	HITS-CLIP	23824327
MIRT623561	hsa-miR-8485	HITS-CLIP	23824327
MIRT628089	hsa-miR-548as-3p	HITS-CLIP	23824327
MIRT623561	hsa-miR-8485	HITS-CLIP	23824327
MIRT628089	hsa-miR-548as-3p	HITS-CLIP	23824327
MIRT623561	hsa-miR-8485	HITS-CLIP	23824327
MIRT623561	hsa-miR-8485	HITS-CLIP	23824327
MIRT628089	hsa-miR-548as-3p	HITS-CLIP	23824327
MIRT623561	hsa-miR-8485	HITS-CLIP	23824327
MIRT000707	hsa-miR-135a-5p	Luciferase reporter assay, Western blotting, qRT-PCR	34176097
MIRT756314	rno-miR-21-5p	Western blotting	37641874
MIRT756359	hsa-miR-4429	Luciferase reporter assay, Western blotting, qRT-PCR	35722358
MIRT1076121	hsa-miR-106a	CLIP-seq
MIRT1076122	hsa-miR-106b	CLIP-seq
MIRT1076123	hsa-miR-1182	CLIP-seq
MIRT1076124	hsa-miR-1256	CLIP-seq
MIRT1076125	hsa-miR-1284	CLIP-seq
MIRT1076126	hsa-miR-1343	CLIP-seq
MIRT1076127	hsa-miR-17	CLIP-seq
MIRT1076128	hsa-miR-20a	CLIP-seq
MIRT1076129	hsa-miR-20b	CLIP-seq
MIRT1076130	hsa-miR-214	CLIP-seq
MIRT1076131	hsa-miR-23a	CLIP-seq
MIRT1076132	hsa-miR-23b	CLIP-seq
MIRT1076133	hsa-miR-23c	CLIP-seq
MIRT1076134	hsa-miR-2909	CLIP-seq
MIRT1076135	hsa-miR-300	CLIP-seq
MIRT1076136	hsa-miR-3143	CLIP-seq
MIRT1076137	hsa-miR-3145-3p	CLIP-seq
MIRT1076138	hsa-miR-3171	CLIP-seq
MIRT1076139	hsa-miR-337-3p	CLIP-seq
MIRT1076140	hsa-miR-338-5p	CLIP-seq
MIRT1076141	hsa-miR-34a	CLIP-seq
MIRT1076142	hsa-miR-34c-5p	CLIP-seq
MIRT1076143	hsa-miR-3609	CLIP-seq
MIRT1076144	hsa-miR-3619-5p	CLIP-seq
MIRT1076145	hsa-miR-3658	CLIP-seq
MIRT1076146	hsa-miR-3685	CLIP-seq
MIRT1076147	hsa-miR-381	CLIP-seq
MIRT1076148	hsa-miR-384	CLIP-seq
MIRT1076149	hsa-miR-4270	CLIP-seq
MIRT1076150	hsa-miR-4282	CLIP-seq
MIRT1076151	hsa-miR-4291	CLIP-seq
MIRT1076152	hsa-miR-4318	CLIP-seq
MIRT1076153	hsa-miR-433	CLIP-seq
MIRT1076154	hsa-miR-4426	CLIP-seq
MIRT1076155	hsa-miR-4441	CLIP-seq
MIRT1076156	hsa-miR-4468	CLIP-seq
MIRT1076157	hsa-miR-449a	CLIP-seq
MIRT1076158	hsa-miR-449b	CLIP-seq
MIRT1076159	hsa-miR-4509	CLIP-seq
MIRT1076160	hsa-miR-4536	CLIP-seq
MIRT1076161	hsa-miR-4647	CLIP-seq
MIRT1076162	hsa-miR-4660	CLIP-seq
MIRT1076163	hsa-miR-4662b	CLIP-seq
MIRT1076164	hsa-miR-4666-3p	CLIP-seq
MIRT1076165	hsa-miR-4678	CLIP-seq
MIRT1076166	hsa-miR-4720-5p	CLIP-seq
MIRT1076167	hsa-miR-4744	CLIP-seq
MIRT1076168	hsa-miR-4756-3p	CLIP-seq
MIRT1076169	hsa-miR-4778-5p	CLIP-seq
MIRT1076170	hsa-miR-4789-5p	CLIP-seq
MIRT1076171	hsa-miR-4795-3p	CLIP-seq
MIRT1076172	hsa-miR-4796-3p	CLIP-seq
MIRT1076173	hsa-miR-4799-3p	CLIP-seq
MIRT1076174	hsa-miR-495	CLIP-seq
MIRT1076175	hsa-miR-5096	CLIP-seq
MIRT1076176	hsa-miR-513a-3p	CLIP-seq
MIRT1076177	hsa-miR-518a-5p	CLIP-seq
MIRT1076178	hsa-miR-519d	CLIP-seq
MIRT1076179	hsa-miR-527	CLIP-seq
MIRT1076180	hsa-miR-543	CLIP-seq
MIRT1076181	hsa-miR-548a-3p	CLIP-seq
MIRT1076182	hsa-miR-548ac	CLIP-seq
MIRT1076183	hsa-miR-548ae	CLIP-seq
MIRT1076184	hsa-miR-548ah	CLIP-seq
MIRT1076185	hsa-miR-548aj	CLIP-seq
MIRT1076186	hsa-miR-548am	CLIP-seq
MIRT1076187	hsa-miR-548d-3p	CLIP-seq
MIRT1076188	hsa-miR-548e	CLIP-seq
MIRT1076189	hsa-miR-548f	CLIP-seq
MIRT1076190	hsa-miR-548x	CLIP-seq
MIRT1076191	hsa-miR-548z	CLIP-seq
MIRT1076192	hsa-miR-605	CLIP-seq
MIRT1076193	hsa-miR-610	CLIP-seq
MIRT1076194	hsa-miR-646	CLIP-seq
MIRT1076195	hsa-miR-761	CLIP-seq
MIRT1076196	hsa-miR-922	CLIP-seq
MIRT1076197	hsa-miR-93	CLIP-seq
MIRT1076125	hsa-miR-1284	CLIP-seq
MIRT2018949	hsa-miR-3120-3p	CLIP-seq
MIRT2018950	hsa-miR-4521	CLIP-seq
MIRT2018951	hsa-miR-4639-5p	CLIP-seq
MIRT2018952	hsa-miR-4668-3p	CLIP-seq
MIRT2018953	hsa-miR-4698	CLIP-seq
MIRT1076170	hsa-miR-4789-5p	CLIP-seq
MIRT2018954	hsa-miR-500a	CLIP-seq
MIRT2018955	hsa-miR-520d-5p	CLIP-seq
MIRT2018956	hsa-miR-524-5p	CLIP-seq
MIRT2018957	hsa-miR-579	CLIP-seq
MIRT2018958	hsa-miR-600	CLIP-seq
MIRT2018959	hsa-miR-607	CLIP-seq
MIRT2250778	hsa-miR-370	CLIP-seq
MIRT2250779	hsa-miR-4325	CLIP-seq
MIRT2018953	hsa-miR-4698	CLIP-seq
MIRT2250780	hsa-miR-4793-3p	CLIP-seq
MIRT2250781	hsa-miR-556-5p	CLIP-seq
MIRT2018957	hsa-miR-579	CLIP-seq
MIRT2018959	hsa-miR-607	CLIP-seq
MIRT1076193	hsa-miR-610	CLIP-seq
MIRT2554255	hsa-miR-362-5p	CLIP-seq
MIRT2554256	hsa-miR-3653	CLIP-seq
MIRT1076145	hsa-miR-3658	CLIP-seq
MIRT2018950	hsa-miR-4521	CLIP-seq
MIRT2018951	hsa-miR-4639-5p	CLIP-seq
MIRT2018952	hsa-miR-4668-3p	CLIP-seq
MIRT2018954	hsa-miR-500a	CLIP-seq
MIRT2554257	hsa-miR-500b	CLIP-seq
MIRT2554258	hsa-miR-502-5p	CLIP-seq
MIRT2554259	hsa-miR-511	CLIP-seq
MIRT2018955	hsa-miR-520d-5p	CLIP-seq
MIRT2018956	hsa-miR-524-5p	CLIP-seq
MIRT2018958	hsa-miR-600	CLIP-seq
MIRT2554255	hsa-miR-362-5p	CLIP-seq
MIRT2554256	hsa-miR-3653	CLIP-seq
MIRT1076145	hsa-miR-3658	CLIP-seq
MIRT2683087	hsa-miR-4456	CLIP-seq
MIRT2018950	hsa-miR-4521	CLIP-seq
MIRT2018951	hsa-miR-4639-5p	CLIP-seq
MIRT2018952	hsa-miR-4668-3p	CLIP-seq
MIRT2683088	hsa-miR-4757-5p	CLIP-seq
MIRT2018954	hsa-miR-500a	CLIP-seq
MIRT2554257	hsa-miR-500b	CLIP-seq
MIRT2554258	hsa-miR-502-5p	CLIP-seq
MIRT2554259	hsa-miR-511	CLIP-seq
MIRT2018955	hsa-miR-520d-5p	CLIP-seq
MIRT2018956	hsa-miR-524-5p	CLIP-seq
MIRT2018958	hsa-miR-600	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
BRCA1	Unknown	11163768
ESR1	Unknown	19876927
STAT1	Activation	21239533
STAT3	Activation	17151100
STAT3	Unknown	19783654

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000165	Process	MAPK cascade	TAS
GO:0000186	Process	Activation of MAPKK activity	IEA
GO:0000791	Component	Euchromatin	IEA
GO:0001774	Process	Microglial cell activation	ISS
GO:0002250	Process	Adaptive immune response	IEA
GO:0004672	Function	Protein kinase activity	TAS
GO:0004713	Function	Protein tyrosine kinase activity	EXP	9111318, 15143187, 19665053, 20304997
GO:0004713	Function	Protein tyrosine kinase activity	IDA	23061660
GO:0004713	Function	Protein tyrosine kinase activity	ISS
GO:0004713	Function	Protein tyrosine kinase activity	TAS
GO:0004715	Function	Non-membrane spanning protein tyrosine kinase activity	TAS
GO:0005102	Function	Signaling receptor binding	IPI	11201744
GO:0005131	Function	Growth hormone receptor binding	IBA	21873635
GO:0005131	Function	Growth hormone receptor binding	ISS
GO:0005143	Function	Interleukin-12 receptor binding	ISS
GO:0005515	Function	Protein binding	IPI	9516124, 11679576, 11694501, 11970898, 15821101, 16437163, 17474147, 18692472, 19234114, 20353823, 21806020, 24931576, 25092874, 26175413, 30413785
GO:0005524	Function	ATP binding	IEA
GO:0005634	Component	Nucleus	IDA	10502458, 19783980
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005730	Component	Nucleolus	IEA
GO:0005737	Component	Cytoplasm	IDA	10502458
GO:0005829	Component	Cytosol	TAS
GO:0005856	Component	Cytoskeleton	IEA
GO:0005886	Component	Plasma membrane	IDA
GO:0005901	Component	Caveola	ISS
GO:0005925	Component	Focal adhesion	IDA
GO:0006468	Process	Protein phosphorylation	TAS	9670957
GO:0006915	Process	Apoptotic process	ISS
GO:0006919	Process	Activation of cysteine-type endopeptidase activity involved in apoptotic process	ISS
GO:0007165	Process	Signal transduction	ISS
GO:0007167	Process	Enzyme linked receptor protein signaling pathway	ISS
GO:0007186	Process	G protein-coupled receptor signaling pathway	IEA
GO:0007204	Process	Positive regulation of cytosolic calcium ion concentration	IEA
GO:0007259	Process	Receptor signaling pathway via JAK-STAT	ISS
GO:0007260	Process	Tyrosine phosphorylation of STAT protein	IBA	21873635
GO:0007260	Process	Tyrosine phosphorylation of STAT protein	ISS
GO:0007498	Process	Mesoderm development	TAS	9590174
GO:0007596	Process	Blood coagulation	TAS
GO:0008022	Function	Protein C-terminus binding	IEA
GO:0008285	Process	Negative regulation of cell population proliferation	ISS
GO:0008631	Process	Intrinsic apoptotic signaling pathway in response to oxidative stress	IEA
GO:0010667	Process	Negative regulation of cardiac muscle cell apoptotic process	IEA
GO:0010811	Process	Positive regulation of cell-substrate adhesion	IDA	10925297
GO:0014068	Process	Positive regulation of phosphatidylinositol 3-kinase signaling	ISS
GO:0014068	Process	Positive regulation of phosphatidylinositol 3-kinase signaling	TAS
GO:0018108	Process	Peptidyl-tyrosine phosphorylation	ISS
GO:0019221	Process	Cytokine-mediated signaling pathway	IBA	21873635
GO:0019221	Process	Cytokine-mediated signaling pathway	IDA	8609418
GO:0019221	Process	Cytokine-mediated signaling pathway	ISS
GO:0019221	Process	Cytokine-mediated signaling pathway	TAS
GO:0019901	Function	Protein kinase binding	IDA	10925297
GO:0020037	Function	Heme binding	IDA	21036157
GO:0022408	Process	Negative regulation of cell-cell adhesion	IEA
GO:0030041	Process	Actin filament polymerization	NAS	10925297
GO:0030154	Process	Cell differentiation	ISS
GO:0030218	Process	Erythrocyte differentiation	IBA	21873635
GO:0030218	Process	Erythrocyte differentiation	ISS
GO:0030335	Process	Positive regulation of cell migration	IEA
GO:0031103	Process	Axon regeneration	IEA
GO:0031702	Function	Type 1 angiotensin receptor binding	IEA
GO:0031904	Component	Endosome lumen	TAS
GO:0031959	Process	Mineralocorticoid receptor signaling pathway	IEA
GO:0032024	Process	Positive regulation of insulin secretion	IEA
GO:0032496	Process	Response to lipopolysaccharide	ISS
GO:0032516	Process	Positive regulation of phosphoprotein phosphatase activity	IEA
GO:0032731	Process	Positive regulation of interleukin-1 beta production	ISS
GO:0032760	Process	Positive regulation of tumor necrosis factor production	ISS
GO:0033130	Function	Acetylcholine receptor binding	IEA
GO:0033194	Process	Response to hydroperoxide	IEA
GO:0033209	Process	Tumor necrosis factor-mediated signaling pathway	IDA	8609418
GO:0034612	Process	Response to tumor necrosis factor	IDA	8609418
GO:0035401	Function	Histone kinase activity (H3-Y41 specific)	IBA	21873635
GO:0035401	Function	Histone kinase activity (H3-Y41 specific)	IDA	19783980
GO:0035409	Process	Histone H3-Y41 phosphorylation	IBA	21873635
GO:0035409	Process	Histone H3-Y41 phosphorylation	IDA	19783980
GO:0035556	Process	Intracellular signal transduction	ISS
GO:0035722	Process	Interleukin-12-mediated signaling pathway	IDA	7528775
GO:0035722	Process	Interleukin-12-mediated signaling pathway	TAS
GO:0038155	Process	Interleukin-23-mediated signaling pathway	TAS
GO:0042169	Function	SH2 domain binding	IPI	9727029
GO:0042307	Process	Positive regulation of protein import into nucleus	IEA
GO:0042393	Function	Histone binding	IDA	19783980
GO:0042531	Process	Positive regulation of tyrosine phosphorylation of STAT protein	ISS
GO:0042802	Function	Identical protein binding	IPI	21841788, 22820988
GO:0042976	Process	Activation of Janus kinase activity	ISS
GO:0042981	Process	Regulation of apoptotic process	IBA	21873635
GO:0043388	Process	Positive regulation of DNA binding	IEA
GO:0043392	Process	Negative regulation of DNA binding	ISS
GO:0043524	Process	Negative regulation of neuron apoptotic process	IEA
GO:0043548	Function	Phosphatidylinositol 3-kinase binding	IEA
GO:0043560	Function	Insulin receptor substrate binding	IEA
GO:0045121	Component	Membrane raft	ISS
GO:0045348	Process	Positive regulation of MHC class II biosynthetic process	ISS
GO:0045428	Process	Regulation of nitric oxide biosynthetic process	ISS
GO:0045429	Process	Positive regulation of nitric oxide biosynthetic process	IEA
GO:0045597	Process	Positive regulation of cell differentiation	IEA
GO:0045822	Process	Negative regulation of heart contraction	IEA
GO:0046425	Process	Regulation of receptor signaling pathway via JAK-STAT	ISS
GO:0046579	Process	Positive regulation of Ras protein signal transduction	TAS
GO:0046677	Process	Response to antibiotic	IDA	16280321
GO:0046777	Process	Protein autophosphorylation	ISS
GO:0046872	Function	Metal ion binding	IEA
GO:0048008	Process	Platelet-derived growth factor receptor signaling pathway	IEA
GO:0050727	Process	Regulation of inflammatory response	IDA	10925297
GO:0050729	Process	Positive regulation of inflammatory response	IEA
GO:0050731	Process	Positive regulation of peptidyl-tyrosine phosphorylation	ISS
GO:0050804	Process	Modulation of chemical synaptic transmission	IEA
GO:0050867	Process	Positive regulation of cell activation	IEA
GO:0051091	Process	Positive regulation of DNA-binding transcription factor activity	IEA
GO:0051428	Function	Peptide hormone receptor binding	IEA
GO:0051770	Process	Positive regulation of nitric-oxide synthase biosynthetic process	ISS
GO:0060333	Process	Interferon-gamma-mediated signaling pathway	TAS
GO:0060334	Process	Regulation of interferon-gamma-mediated signaling pathway	TAS
GO:0060391	Process	Positive regulation of SMAD protein signal transduction	IGI	28334068
GO:0060396	Process	Growth hormone receptor signaling pathway	IDA	10925297
GO:0060397	Process	Growth hormone receptor signaling pathway via JAK-STAT	ISS
GO:0060397	Process	Growth hormone receptor signaling pathway via JAK-STAT	TAS
GO:0060399	Process	Positive regulation of growth hormone receptor signaling pathway	ISS
GO:0061180	Process	Mammary gland epithelium development	ISS
GO:0070102	Process	Interleukin-6-mediated signaling pathway	TAS
GO:0070106	Process	Interleukin-27-mediated signaling pathway	TAS
GO:0070671	Process	Response to interleukin-12	IDA	7528775
GO:0070757	Process	Interleukin-35-mediated signaling pathway	TAS
GO:0097191	Process	Extrinsic apoptotic signaling pathway	ISS
GO:0097296	Process	Activation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway	ISS
GO:0098794	Component	Postsynapse	IEA
GO:0098978	Component	Glutamatergic synapse	IEA
GO:0099527	Process	Postsynapse to nucleus signaling pathway	IEA
GO:0120162	Process	Positive regulation of cold-induced thermogenesis	ISS	26515423
GO:1902728	Process	Positive regulation of growth factor dependent skeletal muscle satellite cell proliferation	IEA
GO:1904037	Process	Positive regulation of epithelial cell apoptotic process	IEA
GO:1904707	Process	Positive regulation of vascular associated smooth muscle cell proliferation	IEA
GO:2000273	Process	Positive regulation of signaling receptor activity	ISS

Other IDs

• MIM: 147796
• HGNC: 6192
• e!Ensembl: ENSG00000096968

Protein

• UniProt ID: O60674
• Protein name: Tyrosine-protein kinase JAK2 (EC 2.7.10.2) (Janus kinase 2) (JAK-2)
• Protein function: Non-receptor tyrosine kinase involved in various processes such as cell growth, development, differentiation or histone modifications. Mediates essential signaling events in both innate and adaptive immunity. In the cytoplasm, plays a pivotal ro
• PDB: 2B7A, 2W1I, 2XA4, 3E62, 3E63, 3E64, 3FUP, 3IO7, 3IOK, 3JY9, 3KCK, 3KRR, 3LPB, 3Q32, 3RVG, 3TJC, 3TJD, 3UGC, 3ZMM, 4AQC, 4BBE, 4BBF, 4C61, 4C62, 4D0W, 4D0X, 4D1S, 4E4M, 4E6D, 4E6Q, 4F08, 4F09, 4FVP, 4FVQ, 4FVR, 4GFM, 4GMY, 4HGE, 4IVA, 4JI9, 4JIA, 4P7E, 4YTC, 4YTF, 4YTH, 4YTI, 4Z32, 4ZIM, 5AEP, 5CF4, 5CF5
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF18379	FERM_F1	39 → 134	FERM F1 ubiquitin-like domain	Domain
  PF18377	FERM_F2	142 → 261	FERM F2 acyl-CoA binding protein-like domain	Domain
  PF17887	Jak1_Phl	299 → 381	Jak1 pleckstrin homology-like domain	Domain
  PF00017	SH2	400 → 481	SH2 domain	Domain
  PF07714	PK_Tyr_Ser-Thr	545 → 805	Protein tyrosine and serine/threonine kinase	Domain
  PF07714	PK_Tyr_Ser-Thr	849 → 1123	Protein tyrosine and serine/threonine kinase	Domain

• Tissue specificity: TISSUE SPECIFICITY: Ubiquitously expressed throughout most tissues. {ECO:0000269|PubMed:16424865}.
• Sequence:

  MGMACLTMTEMEGTSTSSIYQNGDISGNANSMKQIDPVLQVYLYHSLGKSEADYLTFPSG
  EYVAEEICIAASKACGITPVYHNMFALMSETERIWYPPNHVFHIDESTRHNVLYRIRFYF
  PRWYCSGSNRAYRHGISRGAEAPLLDDFVMSYLFAQWRHDFVHGWIKVPVTHETQEECLG
  MAVLDMMRIAKENDQTPLAIYNSISYKTFLPKCIRAKIQDYHILTRKRIRYRFRRFIQQF
  SQCKATARNLKLKYLINLETLQSAFYTEKFEVKEPGSGPSGEEIFATIIITGNGGIQWSR
  GKHKESETLTEQDLQLYCDFPNIIDVSIKQANQEGSNESRVVTIHKQDGKNLEIELSSLR
  EALSFVSLIDGYYRLTADAHHYLCKEVAPPAVLENIQSNCHGPISMDFAISKLKKAGNQT
  GLYVLRCSPKDFNKYFLTFAVERENVIEYKHCLITKNENEEYNLSGTKKNFSSLKDLLNC
  YQMETVRSDNIIFQFTKCCPPKPKDKSNLLVFRTNGVSDVPTSPTLQRPTHMNQMVFHKI
  RNEDLIFNESLGQGTFTKIFKGVRREVGDYGQLHETEVLLKVLDKAHRNYSESFFEAASM
  MSKLSHKHLVLNYGVCVCGDENILVQEFVKFGSLDTYLKKNKNCINILWKLEVAKQLAWA
  MHFLEENTLIHGNVCAKNILLIREEDRKTGNPPFIKLSDPGISITVLPKDILQERIPWVP
  PECIENPKNLNLATDKWSFGTTLWEICSGGDKPLSALDSQRKLQFYEDRHQLPAPKWAEL
  ANLINNCMDYEPDFRPSFRAIIRDLNSLFTPDYELLTENDMLPNMRIGALGFSGAFEDRD
  PTQFEERHLKFLQQLGKGNFGSVEMCRYDPLQDNTGEVVAVKKLQHSTEEHLRDFEREIE
  ILKSLQHDNIVKYKGVCYSAGRRNLKLIMEYLPYGSLRDYLQKHKERIDHIKLLQYTSQI
  CKGMEYLGTKRYIHRDLATRNILVENENRVKIGDFGLTKVLPQDKEYYKVKEPGESPIFW
  YAPESLTESKFSVASDVWSFGVVLYELFTYIEKSKSPPAEFMRMIGNDKQGQMIVFHLIE
  LLKNNGRLPRPDGCPDEIYMIMTECWNNNVNQRPSFRDLALRVDQIRDNMAG

• Sequence length: 1132

Pathways

KEGG:

EGFR tyrosine kinase inhibitor resistance
Chemokine signaling pathway
Hormone signaling
Efferocytosis
PI3K-Akt signaling pathway
Necroptosis
Signaling pathways regulating pluripotency of stem cells
JAK-STAT signaling pathway
Th1 and Th2 cell differentiation
Th17 cell differentiation
Cholinergic synapse
Prolactin signaling pathway
Adipocytokine signaling pathway
AGE-RAGE signaling pathway in diabetic complications
Growth hormone synthesis, secretion and action
Leishmaniasis
Toxoplasmosis
Tuberculosis
Hepatitis B
Influenza A
Kaposi sarcoma-associated herpesvirus infection
Herpes simplex virus 1 infection
Pathways in cancer
Chemical carcinogenesis - receptor activation
PD-L1 expression and PD-1 checkpoint pathway in cancer
Lipid and atherosclerosis

Reactome:

Interleukin-6 signaling
MAPK3 (ERK1) activation
MAPK1 (ERK2) activation
Prolactin receptor signaling
Signaling by SCF-KIT
RMTs methylate histone arginines
Interleukin-3, Interleukin-5 and GM-CSF signaling
RAF activation
RAF/MAP kinase cascade
Interleukin-4 and Interleukin-13 signaling
IL-6-type cytokine receptor ligand interactions
Signaling by moderate kinase activity BRAF mutants
Signaling by BRAF and RAF fusions
Paradoxical activation of RAF signaling by kinase inactive BRAF
Cyclin D associated events in G1
Interferon gamma signaling
Regulation of IFNG signaling
Interleukin-20 family signaling
Interleukin-35 Signalling
Interleukin-12 signaling
Interleukin-23 signaling
Interleukin-27 signaling
Erythropoietin activates Phosphoinositide-3-kinase (PI3K)
Erythropoietin activates RAS
Interleukin receptor SHC signaling
Signaling downstream of RAS mutants
Growth hormone receptor signaling
Factors involved in megakaryocyte development and platelet production

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Anemia	Anemia	rs118204044, rs118204045, rs118204046, rs121918330, rs869320719, rs869312029, rs121918332, rs869320724, rs767094129, rs786205058, rs786205059, rs137853119, rs137853120, rs137853121, rs1384933966, rs137853122, rs137853123, rs786205060, rs267607121, rs121908584, rs80338697, rs80338699, rs120074166, rs120074167, rs1050828, rs74575103, rs137852314, rs5030868, rs137852316, rs137852317, rs137852318, rs137852319, rs137852320, rs137852321, rs137852322, rs137852323, rs137852324, rs72554665, rs387906468, rs5030872, rs137852326, rs137852333, rs137852327, rs137852328, rs137852329, rs137852330, rs137852331, rs137852332, rs137852334, rs137852335, rs137852336, rs137852339, rs76645461, rs137852340, rs137852341, rs78478128, rs137852343, rs137852344, rs137852345, rs587776730, rs137852346, rs137852347, rs137852349, rs2070404412, rs2070350038, rs2070350009, rs137852303, rs137852304, rs33946267, rs34378160, rs33933298, rs11549407, rs35724775, rs34598529, rs41469945, rs267607201, rs80338694, rs80338696, rs387907018, rs398123546, rs78365220, rs587777100, rs587777101, rs483352840, rs869312752, rs765487627, rs1557229599, rs1557230040, rs1555524842, rs782090947, rs1358275550, rs1557229736, rs1557230573, rs1556323334, rs1233124208, rs1293528130, rs146864395, rs1595503440, rs1603411214, rs137852325, rs1575247302, rs1603411177, rs1336651679, rs782322505
Cervical cancer	cervical cancer	rs28934571, rs121913482, rs121913483	27470402
Diffuse lymphoma	Diffuse Large B-Cell Lymphoma	rs121912651, rs121913289, rs121913293, rs878854402, rs869025340, rs1349928568, rs1569115687, rs121913291
Erythrocytosis	Erythrocytosis familial, 1	rs119476044, rs119476045, rs137853036, rs137853037, rs35020585, rs33949869, rs33987903, rs36020563, rs35890959, rs1141387, rs35117167, rs33969677, rs33918338, rs33951978, rs33954595, rs33945777, rs35724775, rs35004220, rs34690599, rs33978134, rs1554393463, rs1554393458, rs1018129986, rs1596573335
Hemangioma	Hemangioma	rs121917766
Hypertension	Hypertensive disease	rs13306026
Leukemia	leukemia, Leukemia, Myelocytic, Acute, Acute leukemia, Acute Myeloid Leukemia (AML-M2)	rs121909646, rs121913488, rs587776834, rs752746786, rs869312821, rs767454740, rs1554564297	19636672, 16247455, 21689158, 22571758, 22829971, 20631743, 22422826, 24404189, 23115274, 22818858, 21120162, 20339092, 22041374
Liver failure	Liver Failure, Acute	rs118203990, rs118203991, rs118203992, rs387907022, rs201861847, rs796065037, rs759315662, rs368196005, rs796052121, rs369437593, rs367683258, rs766314948, rs368085185, rs770446752, rs753039116, rs776797592, rs1490906786, rs1562849964, rs759960319, rs776597537, rs375350359, rs1573008071, rs1601977105, rs1174791046, rs1019313682
Lymphoblastic leukemia	Precursor Cell Lymphoblastic Leukemia Lymphoma	rs387906351, rs104894562, rs398122513, rs398122840, rs1057524466, rs1064796115, rs1064795660, rs1064793129, rs1064796227, rs1567887558, rs1161194345, rs1597558200, rs1406320425, rs1597566470, rs1597566699, rs1597567692, rs1597567985, rs1438890364, rs1288977950, rs1597552140, rs1597566356, rs1597566726, rs1597568117, rs2069719445, rs2069729948, rs2070018439, rs745708044, rs1169577591
Myelodysplasia	Myelodysplasia	rs141601766, rs1261178797
Myelodysplastic syndrome	MYELODYSPLASTIC SYNDROME	rs193303018, rs387906631, rs1576745225, rs373145711, rs752746786, rs377023736, rs373221034, rs1576749014, rs1600586587
Myelofibrosis	Myelofibrosis, Primary Myelofibrosis	rs77375493, rs587776885, rs1555760738, rs146249964, rs755257605	25157968, 19636672, 19287384, 19287382, 21942426, 15858187, 19287385, 24986690, 19154659, 16293597, 15781101, 16951397
Myeloproliferative disorder	Myeloproliferative disease	rs267606708, rs77375493	22087750, 17267906, 19287384, 25849990, 29047144, 20585391, 15781101
Pancytopenia	Pancytopenia	rs869312883, rs770551610, rs1131690788, rs530073586, rs374333820
Polycythemia vera	Polycythemia Vera	rs77375493	19287384, 16603627, 15781101, 20160369, 15793561, 16484586, 17267906, 19154659, 15858187, 21942426, 19287382, 18717827
Prostate cancer	Malignant neoplasm of prostate	rs121909139, rs121909140, rs121909141, rs121909142, rs121909143, rs606231169, rs606231170, rs137852584, rs137852578, rs137852580, rs137852581, rs137852582	17199135
Pulmonary arterial hypertension	Pulmonary arterial hypertension, Idiopathic pulmonary arterial hypertension	rs121909288, rs137852741, rs137852742, rs137852743, rs137852744, rs137852745, rs137852746, rs137852748, rs137852749, rs137852750, rs137852751, rs137852753, rs863223423, rs863223426, rs863223424, rs863223408, rs869025366, rs876657748, rs886039506, rs886041324, rs1060502576, rs1060502581, rs1060502584, rs1085307149, rs1085307154, rs1085307157, rs1085307163, rs1085307169, rs1085307177, rs1085307180, rs1085307184, rs1085307188, rs1085307191, rs1085307203, rs1085307222, rs1085307223, rs1085307225, rs1085307229, rs1085307234, rs1085307246, rs1085307261, rs1085307267, rs576091247, rs200948870, rs1085307278, rs1085307282, rs1085307285, rs1085307290, rs1085307301, rs1085307306, rs1085307307, rs1085307308, rs1085307315, rs1085307316, rs1553509997, rs1085307324, rs1085307340, rs1085307349, rs1085307352, rs765887545, rs1085307183, rs1555208696, rs1592224412, rs1574415785, rs1574415799, rs1574462520, rs1085307197, rs1574464060, rs749485755, rs1574464121, rs1574464150, rs1574464160, rs1085307214, rs1574485996, rs1574486497, rs1574486566, rs1574488314, rs1574488346, rs1574488353, rs1574488357, rs1574488412, rs1414031345, rs1574488484, rs1574488490, rs863223419, rs1574489046, rs1574494632, rs1574494655, rs1574500018, rs1574505253, rs1574505321, rs371174955, rs1574506729, rs1574506732, rs1574506781, rs1574506790, rs1574506799, rs1574506914, rs1574506976, rs1574507076, rs1574507124, rs1574507215, rs1574507268, rs1574507272, rs1574507276, rs1574507290, rs1574507331, rs398123042, rs374644720, rs1588573831, rs1592222308, rs1592223392, rs756315327, rs1603248167, rs1397811125, rs1603255267, rs1603255327, rs1603255336, rs1603255339, rs754897911, rs1603256095, rs1085307155, rs1085307156, rs1574464226, rs1085307226, rs1574486038, rs1553508321, rs1574488277, rs1574488501, rs1574493841, rs1574499954
Thrombocythemia	Thrombocythemia, Essential, THROMBOCYTHEMIA 3, Essential thrombocythemia	rs2108623965, rs771269271, rs121913614, rs77375493, rs1555760738, rs750046020, rs148434485, rs1714397896	16896569, 15781101, 21942426, 21653328, 16484586, 19154659, 15858187, 20434300, 21825979, 19636672, 16325696, 22397670
Tumoral calcinosis	Tumoral calcinosis	rs104894343, rs104894344, rs745655924, rs137853086, rs375879489, rs761396172, rs137853087, rs137853091, rs137853088, rs137853089, rs137853090, rs766750282, rs760830864, rs786205250, rs267606841, rs1555096583, rs1220533001, rs762936774, rs775341386	21335463

Unknown
Disease term	Disease name	Evidence	References	Source
Budd-chiari syndrome	Budd-Chiari Syndrome, Budd-Chiari syndrome		16762626, 19293426, 23425079, 26557140, 25698270, 18600100, 23980667	ClinVar
Cirrhosis	Cirrhosis			ClinVar
Crohn disease	Crohn Disease		18587394	ClinVar
Myocardial infarction	Myocardial Infarction			ClinVar
Thrombocytosis	familial thrombocytosis			GenCC
Eczema	Eczema			GWAS
Systemic lupus erythematosus	Systemic lupus erythematosus			GWAS
Crohn Disease	Crohn Disease			GWAS
Ulcerative colitis	Ulcerative colitis			GWAS
Inflammatory Bowel Disease	Inflammatory Bowel Disease			GWAS
Eosinophilia	Eosinophilia			GWAS
Multiple Sclerosis	Multiple Sclerosis			GWAS
Lymphoid leukemia	Lymphoid leukemia			GWAS

Associations from Text Mining
Disease Name	Relationship Type	References
Abdominal Injuries	Associate	17263783
Ablepharon macrostomia syndrome	Associate	39457093
Abnormalities Drug Induced	Associate	27389715
Acquired ichthyosis	Associate	36303457
Acute erythroleukemia	Associate	10340405
Acute Lung Injury	Associate	37864659
Adenocarcinoma of Lung	Associate	27025877, 28639892, 31844068, 32515474, 35140701, 36127737, 36990047, 38225784
Adenoma Pleomorphic	Associate	27286739
Adjustment Disorders	Associate	23695894
Aicardi Goutieres syndrome	Associate	37171742
Allergic Fungal Sinusitis	Associate	34356683
Alopecia Areata	Associate	30558329
Altitude Sickness	Associate	26952840
Anaphylaxis	Associate	37316763
Anemia	Associate	19549988, 21239780, 21442636, 22081489, 26370613, 27167495, 29565699, 34324169
Anemia Hemolytic	Associate	18028479
Anemia Refractory	Associate	16741247, 18166783, 19692701, 20194893, 20334914, 22532522, 26874914
Aneuploidy	Associate	33952700
Anophthalmia with pulmonary hypoplasia	Associate	37210549
Anterior Wall Myocardial Infarction	Associate	31784298
Aortic Aneurysm Abdominal	Associate	34469433
Aortic Dissection	Associate	24586754
Apical Hypertrophic Cardiomyopathy	Associate	37567042
Arthritis	Associate	28634854, 30299251
Arthritis Rheumatoid	Associate	16174768, 23968543, 26062018, 31181818, 34125889, 38272919, 39724808
Ascites	Associate	27825119, 33507708
Asthma	Associate	26399222, 32512817, 37316763, 39380119
Ataxia Telangiectasia	Associate	18166783, 20334914, 23695894, 24399021, 32573691
Atelosteogenesis type 2	Associate	33507708
Atherosclerosis	Associate	37344447
Atrial Fibrillation	Associate	40607626
Autism Spectrum Disorder	Associate	31838722
Autoimmune Diseases	Associate	23372669, 33903979
Autonomic Nervous System Diseases	Associate	31289202
Blast Injuries	Associate	34505882
Blood Coagulation Disorders	Associate	19105233, 37369465
Blood Platelet Disorders	Associate	39652998
Bone Marrow Diseases	Associate	32956452, 34905501
Brachydactyly Type D	Associate	28504607
Brain Ischemia	Associate	36397023
Breast Neoplasms	Associate	10938266, 18271926, 20826546, 21785467, 23677069, 24764577, 25059472, 25104439, 26191195, 26317899, 28443471, 30576871, 32503225, 33019728, 33046620, 33397365, 34327780, 34572592, 36088510, 36323529, 36431925, 36901916, 37958803, 40003884
Budd Chiari Syndrome	Associate	17249502, 18250227, 19223280, 19293426, 21264914, 21364191, 21505581, 22467227, 25698270, 26626649, 28710306, 37565871
Burkitt Lymphoma	Associate	30194286, 33994432
Campomelic Dysplasia	Associate	17313377, 17643100, 17854308, 17873518, 18048969, 19154659, 20966521
Carcinogenesis	Associate	20012909, 21173100, 23449277, 23592968, 24718681, 32234492
Carcinoma	Associate	29615459
Carcinoma Basal Cell	Associate	31870221
Carcinoma Hepatocellular	Associate	24980149, 25778631, 28387906, 29651140, 29722127, 29805309, 30264546, 30453302, 30657556, 30779070, 31485610, 33507708, 34148288, 34319031, 35418176, 36461603
Carcinoma Merkel Cell	Associate	34724284
Carcinoma Non Small Cell Lung	Associate	22319590, 27323056, 29082853, 31731888, 35194016, 35435450, 35837990, 36161776, 37658700, 39716199
Carcinoma Ovarian Epithelial	Associate	27825119
Carcinoma Pancreatic Ductal	Associate	26530532, 33029256
Carcinoma Renal Cell	Associate	17898043, 22899991, 24247930, 26911335, 28453463, 30996253, 34789838, 37863123
Carcinoma Small Cell	Associate	35662501
Carcinoma Squamous Cell	Associate	32483193, 35140701, 36780540
Cardiomyopathy Hypertrophic	Associate	33558530
Cardiovascular Diseases	Associate	20884719, 25698270, 36242602, 37813367, 39652998
Carotid Artery Diseases	Associate	32005002
Carotid Artery Thrombosis	Associate	18166784, 18616871, 31994332, 38238287
Carotid Stenosis	Associate	32005002
CD8 Deficiency Familial	Associate	33792220
Celiac Disease	Associate	26859134
Cell Transformation Viral	Associate	16772604, 17712047, 20008300, 22431577, 24458835, 28513614, 28542718, 32164591, 36242602
Cerebral Arterial Diseases	Associate	37344447
Cerebral Hemorrhage	Associate	36397023
Cerebral Infarction	Associate	31340302, 36397023, 36969251, 37344447, 37512112, 37522722
Cerebrovascular Disorders	Associate	39652998
Cholangiocarcinoma	Associate	35790790
Choriocarcinoma	Associate	26418280
Chromosomal Instability	Associate	26356819
Chromosome 5q Deletion Syndrome	Associate	21523797
Chromosome 9 trisomy	Associate	15572583
Chromosome Aberrations	Associate	16532437, 18030353, 19615425, 21235771
Chronic Disease	Associate	16741247, 16825501, 17854308, 19254349, 35129130
Cognition Disorders	Associate	32846801
Colitis Associated Neoplasms	Associate	36232773
Colitis Ulcerative	Associate	24382939, 27664279, 27852544, 36232773
Colonic Diseases	Associate	23382536
Colonic Neoplasms	Associate	18320073, 8530527
Colorectal Neoplasms	Associate	18320073, 20196786, 22121102, 24097071, 24265293, 25446253, 25541970, 25684945, 26078947, 27903500, 28901507, 29641532, 30548332, 30597956, 30670049, 31511084, 31678970, 31718693, 32386021, 34131122, 34290255, 35343934, 36303457, 36371997, 37477088
Complement Component 6 Deficiency	Associate	23907460
Congenital Hereditary and Neonatal Diseases and Abnormalities	Associate	33191357
Consciousness Disorders	Associate	29984752
Contusions	Associate	37565871
Coronary Aneurysm	Associate	33191357
Coronary Artery Disease	Associate	25345590, 39460851
Coronary Disease	Associate	32005002, 34125889
COVID 19	Associate	36693535, 36969251, 36992353
Coxa Magna	Associate	35118903, 38204239
Crohn Disease	Stimulate	24382939, 28729389
Crohn Disease	Associate	27852544, 29441677
Cyclic neutropenia	Associate	16728702, 17643100, 29866652, 30861111, 34210413, 34413458, 38225345
Cytokine Release Syndrome	Associate	27664279
Death	Associate	18166783, 21160067, 28177873, 34239136, 36242602, 37584526
Dermatitis Atopic	Associate	27498343, 37316763
Dermatitis Atopic	Stimulate	27711196
Diabetes Mellitus	Associate	37344447
Diabetes Mellitus Type 1	Associate	36303457
Diabetes Mellitus Type 2	Associate	27036040
Diabetic Nephropathies	Associate	29481660
Disease	Associate	39355617
Down Syndrome	Associate	19120350, 25105841, 28461505, 38513239
Drug Related Side Effects and Adverse Reactions	Inhibit	27167495
Drug Related Side Effects and Adverse Reactions	Associate	28291640
Duodenal Neoplasms	Associate	27956534
Ectrodactyly Ectodermal Dysplasia And Cleft Lip Palate Syndrome 1	Associate	15985544, 16684963, 17852451
Elliptocytosis 1	Associate	27734802
Embolic Stroke	Associate	32172663
Endometrial Neoplasms	Associate	19154413, 35242202
Endometriosis	Associate	35279667
Eosinophilia	Associate	12708906, 21264914, 21705501, 23997080, 26017288, 32238402, 33990705, 37454239, 38563187, 40474715
Epileptic Syndromes	Associate	35798703
Erdheim Chester Disease	Associate	29565699, 30305475, 31015311
Esophageal and Gastric Varices	Associate	25339837
Esophageal Neoplasms	Associate	32536038, 34036398
Esophageal Squamous Cell Carcinoma	Associate	33330321
Essential Tremor	Associate	16197451, 17854308, 18616871, 19657484, 20104275, 20560970, 21219298, 24252366, 24903629, 24957246, 25130523, 25573593, 25716342, 25778631, 27990849, 28291640, 29022213, 30404086, 30570876, 31272993, 31610612, 34112633, 34402416, 34514582, 34561237, 36266510, 38197452
Familial Mediterranean Fever	Associate	26123310
Fatigue	Associate	24382738, 30431598
Fetal Diseases	Associate	17426257
Fever	Associate	26123310
Fibrocartilaginous embolism	Associate	34676010
Fibrosarcoma	Associate	7537214, 9305869
Fibrosis	Associate	15858187, 19734476, 25698270, 27444979, 33558530, 35288649
Food Hypersensitivity	Associate	37316763
Fused Kidney	Associate	37846594
Gastrointestinal Diseases	Associate	21239780, 35439303
Gastrointestinal Hemorrhage	Associate	17249502
Genetic Diseases Inborn	Associate	22203033
Genomic Instability	Associate	18723266
Giant Cell Arteritis	Associate	35045965
Glioblastoma	Associate	17143473, 25553095, 26283544, 31452174, 32060308
Glioma	Associate	21906308, 23907460, 33788424, 34369006
Glomerulosclerosis Focal Segmental	Associate	25366011
Glucosephosphate Dehydrogenase Deficiency	Associate	26366417, 37369465
Heart Arrest	Associate	37872693
Heart Diseases	Associate	20022263, 23116358
Heart Failure	Associate	34210413
Hemangioblastoma	Associate	27748427
Hematologic Diseases	Associate	16537803, 16946305, 18166784, 21235771, 21766300, 25781882, 37146604
Hematologic Neoplasms	Associate	15805263, 17976517, 19136931, 19447617, 21235771, 22875628, 23592968, 24404189, 27029346, 27389715, 28422729, 30401948, 30475948, 30577887, 31870101, 32911987, 34239136, 34505882, 37290440, 38225345, 39657124
Hemoglobin C Disease	Associate	36451015
Hemorrhage	Associate	15858187, 20104275, 35439303, 36397023, 37584526, 39545588
Heparin Cofactor II Deficiency	Associate	29022213
Hepatic Veno Occlusive Disease	Associate	30861111
Hepatitis E	Associate	16537803, 17376889, 17873518, 19215672, 19336736, 19773543, 21219298, 22058216, 23681871, 23876158, 25553276, 25573593, 25894969, 35754115, 36476114
Hepatoblastoma	Associate	38071211
Hepatomegaly	Associate	25573593
Hereditary Autoinflammatory Diseases	Associate	29649002
Hereditary Breast and Ovarian Cancer Syndrome	Associate	33660353, 39377506
Herpes Simplex	Associate	29717769
HIV Infections	Inhibit	26492336
Hodgkin Disease	Associate	17652621, 19136931, 20628145, 21156283, 27861596, 29650799, 29902298, 30347596, 31707975
Holoprosencephaly recurrent infections and monocytosis	Associate	23018876
Hypereosinophilic Syndrome	Associate	15920007, 18024388, 37565871, 38563187
Hypermanganesemia with Dystonia Polycythemia and Cirrhosis	Associate	30677867
Hyperplasia	Associate	19734476
Hypersplenism	Associate	17249502
Hypertension	Associate	33639674, 38238303
Hypertension Pulmonary	Associate	34433800
Hyperuricemia	Associate	34716863
Hypopigmentation	Associate	22992805
Hypothermia	Associate	37369465
Hypoxia	Associate	24860972, 29693186, 32945388
Hypoxia Brain	Associate	24860972
Idiopathic Pulmonary Fibrosis	Associate	21750318
Immune System Diseases	Associate	16174768
Immunoglobulin G4 Related Disease	Associate	32733444
Immunologic Deficiency Syndromes	Associate	20655352
Infections	Associate	19549988, 32683889
Inferior Wall Myocardial Infarction	Associate	31784298
Infertility	Associate	36303457
Inflammation	Associate	17577920, 21339300, 24586754, 24718681, 26491227, 27664279, 28228104, 28501635, 28634854, 29933930, 30026572, 30222739, 30571852, 30967632, 31396538, 32519748, 33325534, 34155623, 34356683, 34608825, 34911786, 35194016, 35908591, 36418348, 37342057, 37477088, 37588593, 37700733, 39652998
Inflammatory Bowel Diseases	Associate	21088407, 27664279, 35232999, 36643579, 40312552
Inflammatory Breast Neoplasms	Associate	26774497
Insulin Resistance	Associate	31396538, 36238467
Intervertebral Disc Degeneration	Associate	40426248
Intraabdominal Infections	Associate	24511651
Intracranial Hemorrhages	Associate	32846801
Intracranial Thrombosis	Associate	17263783, 22469236, 25042466, 32846801, 34134639
Ischemic Attack Transient	Associate	34112633
Keloid	Associate	33662027
Kidney Neoplasms	Associate	36246395
Laryngeal Neoplasms	Associate	31189744
Lead Poisoning Nervous System	Associate	37567042
Leiomyoma	Associate	35598777, 36771423
Leukemia	Associate	10090948, 10812249, 16632470, 16873677, 17229652, 17363731, 18030353, 19549988, 19691103, 20068225, 20601445, 21887305, 22204395, 22801367, 23111066, 23372669, 24011025, 24761846, 24860972, 25326804, 27389715, 27686378, 30092288, 30516848, 31870101, 34911786, 34967577, 35839275, 36418348, 36744404, 36930401, 38513239
Leukemia B Cell	Associate	37196217
Leukemia Biphenotypic Acute	Associate	20018760, 28557976
Leukemia Erythroblastic Acute	Associate	31090259, 35179961, 35839275
Leukemia Lymphocytic Chronic B Cell	Associate	18849073, 23280542, 26413812, 28722170, 35715969
Leukemia Megakaryoblastic Acute	Associate	16037387, 27444979
Leukemia Myelogenous Chronic BCR ABL Positive	Associate	16037387, 16081687, 17249502, 19109573, 19254349, 21346257, 21887305, 25288776, 27793879, 28335073, 28602946, 29934492, 29993347, 30940163, 31870101, 32694616, 35938951, 36864712, 36869331, 9326218
Leukemia Myeloid	Associate	20670476, 22579713, 23720412, 9326218
Leukemia Myeloid Acute	Associate	15805263, 16081687, 16831057, 16873677, 17229652, 17363731, 17494858, 18030353, 20008300, 20678218, 21791467, 22041374, 22131879, 22912701, 24142997, 24404189, 26382622, 27983727, 28108507, 29979407, 30431598, 30811597, 31538427, 31742675, 31870101, 31994332, 32732356, 34432868, 35179961, 35189054, 35364561, 35839275, 36476114, 36861732, 37272257, 38513239
Leukemia Myeloid Chronic Atypical BCR ABL Negative	Associate	24301930, 24627528, 24729973, 24860972, 25834519, 31033209, 32986384, 34436049, 36175590, 36744404, 40572650
Leukemia Myelomonocytic Chronic	Associate	15860661, 16037387, 16081687, 18055864, 19734476, 21828135, 22328940, 23632888, 30026572, 35236051, 35443559
Leukemia Myelomonocytic Juvenile	Associate	16037387, 20955399
Leukemia Neutrophilic Chronic	Associate	15860661, 17109389, 19652431, 31315541
Leukemia Plasma Cell	Associate	35610009
Leukemia Promyelocytic Acute	Associate	36476114
Leukemia T Cell	Associate	16956345, 28542718, 37023224
Leukemic Infiltration	Associate	17109389
Leukocytosis	Associate	17249502, 17920754, 18723264, 19965680, 26491227, 26917989, 28456851, 32669286, 38238287, 38238303
Leukopenia	Associate	19549988
Lichen Planus	Associate	31554739
Light Fixation Seizure Syndrome	Associate	33990705
Lipoid Proteinosis of Urbach and Wiethe	Associate	26450985
Liver Cirrhosis	Associate	17249502, 33507708
Liver Diseases	Associate	22467227, 37872693
Liver Neoplasms	Associate	34763315
Lung Injury	Associate	28713982
Lung Neoplasms	Associate	24011025, 24833526, 27025877, 28639892, 31621555, 38225784
Lupus Erythematosus Systemic	Associate	28177455, 29475858, 31790472, 40312552
Lymphatic Metastasis	Associate	28639892, 34165442
Lymphoma	Associate	15860661, 19136931, 21156283, 23372669, 25326804, 26850007, 29984752, 30401948, 32238402, 32394008, 34533850, 36593595, 37316763, 37454239, 38513239, 40474715
Lymphoma B Cell	Associate	15044251, 15572583, 17976519, 19704259, 20628145, 21156283, 23372669, 24977668, 26599546, 26850007, 31707975, 32854650, 33994432
Lymphoma Follicular	Associate	25894969, 37316763
Lymphoma Large B Cell Diffuse	Associate	22323454, 27151728, 29895903, 32296013, 32600091, 32854650, 34433800, 36593595
Lymphoma Large Cell Anaplastic	Associate	19136931, 30206415, 33660353
Lymphoma Non Hodgkin	Associate	17976519
Lymphoma T Cell	Associate	19136931, 24345752, 26216197, 33792220
Lymphoma T Cell Cutaneous	Associate	23372669, 32437546, 33792220, 37308177
Lymphoma T Cell Peripheral	Associate	34653242
Lymphoproliferative Disorders	Associate	33660353, 36593595
Masked Hypertension	Associate	25130523
Mastocytosis Systemic	Associate	15860661, 18165278, 19363219, 19747364, 22395523, 31164383, 37171742
Measles	Associate	29717769
Melanoma	Associate	19536148, 21248298, 21268068, 22717603, 22899991, 23382536, 27903500, 28561041, 31103826, 31506076, 32316408, 36303457
Melanoma Cutaneous Malignant	Associate	29641532, 30236595
Melanoma Cutaneous Malignant	Inhibit	32234492
Mesenteric Ischemia	Associate	17059429, 21505581
Metabolic Syndrome	Associate	22185674
Mitral Valve Insufficiency	Associate	32814349, 34139044
Mouth Neoplasms	Associate	32641093
Multi centric Castleman's Disease	Associate	32206779
Multiple Myeloma	Associate	17976519, 27581518, 31773675, 31868118, 32565533, 32628819, 34422217, 35642704
Multiple Sclerosis	Associate	32241259
Muscular Dystrophy Congenital Megaconial Type	Associate	17976519
Muscular dystrophy congenital with central nervous system involvement	Associate	38563187
Myelodysplastic Myeloproliferative Diseases	Associate	16825501, 20955399, 21346257, 22180010, 22571758, 30726782, 32573691, 39337700
Myelodysplastic Syndromes	Associate	16037387, 16081687, 16741247, 17643100, 17976519, 18030353, 19569249, 20485371, 20678218, 21523797, 22041374, 22571758, 23831921, 26382622, 28642303, 30401948, 30861111, 31804030, 32573691, 32781289, 34125889, 35396491, 37041565
Myeloproliferative Disorder Chronic with Eosinophilia	Associate	37369465
Myeloproliferative Disorders	Associate	15858187, 15920007, 15985544, 16037387, 16081684, 16081687, 16225651, 16304380, 16418333, 16537803, 16632470, 16675710, 16825505, 16831057, 16873677, 16912229, 16946305, 16956345, 16998940, 17013813, 17107350, 17249502, 17251334, 17266061, 17307838, 17313377, 17363731, 17376889, 17379742, 17384217, 17384221, 17488700, 17564968, 17596137, 17652621, 17852451, 17920755, 17984312, 18030353, 18055983, 18671703, 18723264, 18723266, 18757400, 18790796, 18796251, 18815196, 19047681, 19109573, 19135773, 19174256, 19215672, 19223280, 19254349, 19447617, 19549988, 19589925, 19704259, 19734476, 20133898, 20434300, 20966544, 21316606, 21318952, 21497288, 21533094, 22467227, 23599815, 23975181, 24301930, 25339837, 25536606, 25617626, 25684469, 25913509, 26617890, 27513936, 27929554, 28228434, 29192651, 32397294, 32846801, 33507708, 36311265, 37584526, 40022717
Myocardial Infarction	Associate	30861111
Myocardial Infarction	Stimulate	35537778
Nasal Polyps	Associate	34356683
Nasopharyngeal Carcinoma	Associate	30720169, 34165442, 38006726, 38164170, 39742726
Neoplasm Metastasis	Associate	28810143, 30453302, 30720169, 31103826, 32641093, 33330321, 35194016, 35614407, 36161776, 36780540, 36923225
Neoplasm Residual	Associate	19215672, 23617802
Neoplasms	Associate	12708906, 15319452, 16174768, 17488875, 18566326, 19005480, 19074595, 19183237, 19225136, 19262599, 19287382, 19287384, 19466975, 19541820, 19564637, 19608683, 19615425, 19704259, 19734476, 19747364, 19929856, 19959796, 20008300, 20012909, 20061559, 20304805, 20359349, 20404132, 20416094, 20417861, 20431031, 20445018, 20538800, 20553273, 20560970, 20667821, 20730051, 20861460, 20888389, 21074499, 21160067, 21173100, 21212285, 21224469, 21235771, 21247487, 21316606, 21331593, 21364191, 21523797, 21562050, 21653937, 21705501, 21712540, 21723416, 21723417, 21750318, 21766300, 21786333, 21789226, 21791467, 21841788, 21985400, 22028900, 22041356, 22041374, 22087308, 22203033, 22251709, 22300941, 22315499, 22319590, 22333011, 22385957, 22395523, 22403733, 22511494, 22579713, 22684105, 22768290, 22820988, 22875628, 22916261, 23057517, 23111066, 23111067, 23116358, 23129323, 23130336, 23157224, 23300178, 23301855, 23349688, 23372669, 23420150, 23537216, 23592968, 23617802, 23677069, 23681871, 23781511, 23860450, 23865766, 23978506, 23986553, 24013208, 24066127, 24068492, 24142997, 24252366, 24265174, 24325359, 24354892, 24366362, 24381227, 24404189, 24463275, 24475114, 24511651, 24687383, 24729973, 24740812, 24764577, 24786775, 24833526, 24858412, 24860972, 24895580, 24903629, 24907356, 24918548, 25023898, 25042466, 25079317, 25196853, 25244093, 25288776, 25326804, 25345590, 25418680, 25526816, 25538080, 25553276, 25637689, 25671252, 25698270, 25719551, 25794279, 25804613, 25824483, 25824741, 25834519, 25849990, 25894969, 25914740, 25931349, 26202837, 26227854, 26256826, 26290261, 26377485, 26402369, 26423830, 26472029, 26491227, 26501981, 26596525, 26676749, 26755644, 26843622, 27061303, 27075627, 27111338, 27151728, 27169616, 27323056, 27341002, 27365426, 27389715, 27433843, 27444979, 27447873, 27486987, 27566291, 27576133, 27693531, 27706633, 27739437, 27748427, 27855276, 27875935, 27880982, 27903500, 27929554, 27956542, 27976991, 28008177, 28057739, 28228104, 28291640, 28314843, 28390197, 28406068, 28411309, 28419183, 28422729, 28501635, 28502479, 28513614, 28550306, 28561041, 28639892, 28752839, 28796790, 28819248, 28831147, 28901507, 28934680, 28990497, 29047144, 29082853, 29214759, 29217833, 29327708, 29571084, 29641532, 29767839, 30039550, 30056580, 30084272, 30087457, 30092288, 30295334, 30327374, 30401948, 30431598, 30514740, 30516848, 30530635, 30531680, 30563882, 30605212, 30635286, 30665374, 30811597, 30889303, 30915747, 30963592, 30996253, 31015311, 31071164, 31217187, 31270105, 31289316, 31298355, 31511084, 31668145, 31704999, 31710700, 31721282, 31885183, 31994332, 32086862, 32238402, 32277273, 32279331, 32296029, 32343799, 32537949, 32669286, 32694616, 32956452, 32986384, 33017633, 33019728, 33169852, 33355355, 33621485, 33621486, 33661998, 33664283, 33667352, 33789164, 33792220, 33821991, 33921387, 33994432, 34112633, 34125889, 34290255, 34300032, 34400417, 34407546, 34413458, 34433800, 34436049, 34477817, 34505882, 34506622, 34507355, 34603575, 34653242, 34697168, 34738870, 34755131, 34921959, 35015307, 35269562, 35435450, 35439167, 35576311, 35603202, 35633552, 35653642, 35690645, 35733370, 35831151, 35938951, 36054916, 36075929, 36083966, 36175590, 36192425, 36303457, 36458557, 36459028, 36476114, 36485130, 36744404, 36864712, 36882838, 36895113, 37023224, 37081446, 37146604, 37149038, 37233774, 37239426, 37259732, 37290440, 37344447, 37369465, 37498362, 37584526, 38111518, 38139386, 38197452, 38225784, 38340948, 38386293, 39179669, 39233645, 39337700, 39351227, 39652998, 39657124, 39665584, 39716199, 39919265, 40022704, 40022717, 40332447, 40429745, 40572650, 40607626, 40681596, 9326218
Neoplasms	Inhibit	23633104
Neoplasms	Stimulate	27151728
Neoplasms Post Traumatic	Associate	30431598
Neoplasms Squamous Cell	Associate	37950670
Neoplastic Syndromes Hereditary	Associate	26304686, 27389715, 37962621, 39657124
Nephrotic Syndrome	Associate	25366011
Neural Tube Defects	Associate	10460607, 17976519, 21789382, 38563187
Neuroblastoma	Associate	39356934
Neurologic Manifestations	Associate	21933860
Neutropenia	Associate	10378893
Neutropenia Severe Congenital Autosomal Recessive 3	Associate	10378893, 8541539
Neutrophilia Hereditary	Associate	24382738
Obesity	Associate	29737494, 33019728
Oculomotor Nerve Diseases	Associate	34112633
Osteoarthritis	Associate	30361290, 37788787
Osteosarcoma	Associate	31081055, 35752008, 36814203
Ovarian Neoplasms	Associate	19088723, 23857432, 27456942, 28734796, 29662190, 30622051, 31129149, 35269562, 37303048
Pancreatic Neoplasms	Associate	23206899, 34623971, 36923225
Panuveitis	Associate	36593595
Paraganglioma	Associate	29534684
Parkinson Disease	Associate	31870101
Paroxysmal ventricular fibrillation	Associate	35189054
Pdgfra Associated Chronic Eosinophilic Leukemia	Associate	18024388, 22523564, 23372669
Pdgfrb Associated Chronic Eosinophilic Leukemia	Associate	15920007, 16037387, 16645202, 16912229, 16998940, 17263783, 17384221, 17852451, 17920755, 18028479, 18048969, 18318760, 19154659, 19215672, 19941738, 20133898, 20966521, 25698270
Pericarditis	Associate	37872693
Peripheral Arterial Disease	Associate	25345590
Peroneal Neuropathies	Associate	29022213
Pheochromocytoma	Associate	29534684
Philadelphia Chromosome	Associate	16037387, 16645202, 17313377, 17976519, 19225136, 22403733, 24173087, 24729973, 25023898, 26163633, 26256826, 27561722, 27566291, 28934680, 29997224, 30401948, 31071164, 32238402, 36076986, 37196217
Pneumocephalus	Associate	29895903
POEMS Syndrome	Associate	23130336
Polycythemia	Associate	16304380, 16369984, 16728702, 16924638, 17249502, 17852451, 17920755, 17984312, 18055983, 18056003, 18492694, 18671703, 18698085, 19252176, 19735488, 20126644, 20203004, 21497288, 21723416, 22262773, 23057517, 24687383, 27389715, 27651169, 29534684, 32277273, 33420222, 33534944, 33664283, 34112633, 35304527, 35775283, 36054916, 36966432, 37239426, 37428608, 37872693, 38244120, 38568469
Polycythemia primary familial and congenital	Associate	10498627, 17488692, 27389715
Polycythemia Vera	Associate	15837627, 15858187, 15860661, 15985544, 16037387, 16081684, 16081687, 16197445, 16197451, 16225651, 16239216, 16293597, 16304380, 16352805, 16369984, 16373657, 16384930, 16434490, 16537803, 16603627, 16645202, 16684963, 16709929, 16728702, 16741247, 16757685, 16772604, 16825501, 16912229, 16924638, 16946305, 16998940, 17059429, 17198871, 17229651, 17249502, 17251334, 17266061, 17313377, 17376889, 17379069, 17379742, 17384217, 17389763, 17412890, 17452518, 17454193, 17488875, 17764814, 17852451, 17873518, 17920755, 17976517, 17976518, 17976519, 17976520, 17979493, 17984312, 18006699, 18048969, 18055983, 18056003, 18195094, 18266209, 18508790, 18557746, 18616871, 18650451, 18698085, 18723264, 18723266, 18728027, 18768782, 18775810, 18815196, 18838204, 19060244, 19109573, 19215672, 19225136, 19252176, 19287382, 19287384, 19293426, 19387008, 19447617, 19472396, 19503632, 19559071, 19604233, 19608683, 19615425, 19657484, 19735488, 19815050, 19826111, 19843380, 19941738, 19941739, 19965650, 20126644, 20160166, 20203004, 20339092, 20585391, 20601445, 20606359, 20625010, 20650526, 20888389, 20966521, 21074499, 21173097, 21219298, 21224469, 21247487, 21273266, 21331593, 21497288, 21750318, 21766300, 21794206, 21953826, 22028900, 22041356, 22041374, 22102708, 22251709, 22262773, 22333011, 22511494, 22611155, 22872685, 22898600, 22916261, 23111067, 23130336, 23265742, 23280542, 23349688, 23633544, 23681871, 23695894, 23782935, 23810504, 23986553, 23996471, 24066127, 24105986, 24166817, 24173087, 24354892, 24382738, 24458835, 24463275, 24511651, 24535932, 24641389, 24687383, 24786775, 24858412, 24860972, 24903629, 24907356, 25023898, 25037629, 25040297, 25162887, 25171702, 25278584, 25288776, 25305205, 25345590, 25352381, 25452296, 25536606, 25637689, 25671252, 25684469, 25752595, 25849990, 25894969, 25913509, 25968903, 26163633, 26187587, 26228487, 26256826, 26275051, 26370613, 26370868, 26450985, 26491227, 26617890, 26626649, 26917989, 27039724, 27094252, 27111338, 27389715, 27614230, 27706633, 27929554, 27956534, 27991718, 28228104, 28232234, 28280082, 28291640, 28335073, 28338652, 28406068, 28427458, 28456851, 28533538, 28550306, 28674362, 28700486, 28710306, 28718562, 28798246, 28934680, 28990497, 29047144, 29217833, 29534684, 29599206, 29984752, 30235191, 30281843, 30287855, 30305475, 30563882, 30570876, 30677867, 30889303, 30940163, 30948488, 30967632, 31167802, 31525610, 31652037, 31668145, 31933324, 31982039, 31991066, 31994332, 32066200, 32118741, 32277273, 32669286, 32683889, 33054051, 33420222, 33543865, 33593422, 33621485, 33639674, 33664283, 33677043, 33677466, 33789164, 34059095, 34134639, 34300032, 34391098, 34433800, 34487654, 34603575, 34749590, 34871267, 34897288, 34911786, 34933330, 35008095, 35025147, 35129130, 35271702, 35435261, 35637336, 35751861, 35775283, 36175590, 36242602, 36260736, 36290845, 36343116, 36476114, 36593623, 36745865, 36856520, 36895113, 36966432, 37023224, 37239426, 37428608, 37584526, 37639050, 37872693, 38111518, 38197452, 38244120, 38386293, 38629639, 39262095, 39545588, 39814384, 40022704, 40022717, 40087986, 40429745
Polycythemia Vera	Stimulate	16728702, 24897074
Portal Vein Cavernous Transformation Of	Associate	37558426
Precancerous Conditions	Associate	33686952
Precursor B Cell Lymphoblastic Leukemia Lymphoma	Associate	23930217, 27176795, 27561722, 27860260, 30401948, 32238402
Precursor Cell Lymphoblastic Leukemia Lymphoma	Associate	21647151, 25515960, 25894969, 27561722, 27860260, 27870571, 28245838, 28408464, 28831147, 29997224, 31870101, 31885183, 32238402, 34299194, 36485097, 37290440, 37895004
Precursor T Cell Lymphoblastic Leukemia Lymphoma	Associate	16956345, 24367274, 25105841, 27476855, 28557976, 29767839
Pregnancy Complications	Associate	17426257, 19705431
Primary Myelofibrosis	Associate	15837627, 15858187, 15860661, 15920007, 15985544, 16037387, 16081687, 16197451, 16225651, 16293597, 16304380, 16373657, 16418333, 16434490, 16532437, 16537803, 16645202, 16825501, 16877349, 16912229, 17018857, 17059429, 17107350, 17133423, 17249502, 17266061, 17296581, 17313377, 17376889, 17379742, 17408465, 17488875, 17712047, 17764814, 17852452, 17854308, 17920755, 17976519, 17976522, 18006699, 18048969, 18266209, 18723264, 18723266, 18775810, 18815196, 19287382, 19287384, 19447617, 19472396, 19549988, 19604233, 19615425, 19616600, 19657484, 19941738, 19965680, 20008298, 20008300, 20133898, 20151976, 20160166, 20489052, 20508616, 20560970, 20585391, 20601445, 20650526, 20843246, 20884719, 20888389, 20966521, 21220608, 21239780, 21247487, 21712540, 21766300, 21912393, 22041356, 22041374, 22180010, 22251709, 22262778, 22280409, 22300941, 22333011, 22511494, 22700720, 22916261, 23039051, 23057517, 23116358, 23129323, 23130336, 23307973, 23386690, 23537216, 23555782, 23644853, 23695894, 23701016, 23865766, 23994117, 23996481, 24011025, 24173087, 24186132, 24325356, 24458439, 24475114, 24511651, 24786775, 24858412, 24859480, 24907356, 24986690, 25023898, 25097177, 25171702, 25232060, 25526816, 25563429, 25617626, 25719551, 25729726, 25913509, 25934766, 25959795, 26123310, 26130950, 26163633, 26228487, 26256826, 26271725, 26402369, 26423830, 26491227, 26617890, 26625816, 27037840, 27061303, 27094252, 27167495, 27293069, 27304059, 27384487, 27686378, 27734802, 27929554, 28185911, 28335073, 28406068, 28674362, 28718562, 28934680, 28990497, 29047144, 29164670, 29368941, 29515114, 29565699, 30259659, 30295334, 30498775, 30516848, 30570876, 30622146, 30745304, 30796884, 30811597, 30889303, 31164383, 31270105, 31369569, 31652037, 31784298, 31994332, 32277273, 32331228, 32567517, 32732359, 32846801, 32861814, 32923146, 33054051, 33275766, 33522952, 33621485, 33639674, 33666652, 33686952, 33789164, 34059095, 34300032, 34402416, 34440447, 34514582, 34603575, 34685741, 34905501, 35173090, 35435261, 36075929, 36266510, 36349465, 36485130, 36599841, 36788093, 36895113, 37173704, 37584526, 37828014, 38011490, 38111518, 38386293, 39665684, 40022704, 40022717, 40269271, 40287867, 40429745
Prolactinoma	Associate	30445560
Prostatic Neoplasms	Associate	10660600, 20966544, 22542949, 29641532, 37706641
Prostatic Neoplasms Castration Resistant	Associate	29693186
Protein S Deficiency	Associate	31870101, 33507708
Pruritus	Associate	16225651, 16369984, 17379742, 17712047, 18257107, 19608683, 22081434, 24382738
Psoriasis	Associate	37893484
Pulmonary Arterial Hypertension	Associate	20808962, 21425123
Pulmonary edema of mountaineers	Associate	24465776
Pulmonary Embolism	Associate	32397294
Purpura	Associate	31689837
Purpura Thrombocytopenic Idiopathic	Associate	31689837, 35945607
Pyoderma Gangrenosum	Stimulate	27711196
Pyruvate Carboxylase Deficiency Disease	Associate	30677867
Radiation Injuries	Associate	36530656
Renal Artery Obstruction	Associate	27991718
Respiratory Insufficiency	Associate	34433800
Respiratory Sounds	Associate	26399222
Retinal Vein Occlusion	Associate	17307838, 18250227, 19225136, 19293426, 20434300, 21364191, 21484303, 21505581, 21723416, 23876158, 24511651, 25698270, 32777065, 33507708, 34603575, 35439303, 36923225
Retinoblastoma	Associate	33426053, 35369571
Ring Chromosomes	Associate	18166783, 19692701, 20334914, 22532522, 30726782
Sagittal Sinus Thrombosis	Associate	28228434
Sarcoidosis	Associate	33903979
Sarcoma Myeloid	Associate	18723264, 22041374
Scleroderma Localized	Associate	37471168
Sclerosis	Associate	19293426
Sinonasal undifferentiated carcinoma	Associate	23633104
Sinus Thrombosis Intracranial	Associate	30635218, 32654426, 33307939
Skin Diseases	Associate	22992805
Small Cell Lung Carcinoma	Associate	20615970
Splenomegaly	Associate	17440984, 17712047, 18166784, 19734476, 20650526, 21239780, 22081489, 22180010, 22251709, 24511651, 25913509, 26228487, 26625816, 26917989, 27293069, 27789678, 28456851, 29565699, 30431598, 32403407, 32669286, 36744404, 39545588
Splenoportal Vascular Anomalies	Associate	21505581
Spondylitis Ankylosing	Associate	32388440
Squamous Cell Carcinoma of Head and Neck	Associate	25405202, 27367272, 31422218, 32641093, 36515567
ST Elevation Myocardial Infarction	Associate	33191357
Stomach Neoplasms	Associate	22310976, 23717640, 24953013, 25055044, 25079317, 25588213, 30103640, 31351462, 31766099, 31884511, 31928530, 32086862, 33778841, 35361764, 35928970, 36632455
Stroke	Associate	34112633, 36397023, 37512112
Syndrome	Associate	25781882
Tauopathies	Associate	40545554
Telangiectasia Hereditary Hemorrhagic	Associate	37689549
Tetra amelia with ectodermal dysplasia and lacrimal duct abnormalities	Associate	37156894
Thrombocythemia Essential	Associate	15837627, 15858187, 15860661, 15920007, 15985544, 16081687, 16293597, 16304380, 16434490, 16645202, 16728702, 16741247, 16772604, 16825501, 16929538, 17013813, 17023581, 17229651, 17249502, 17266061, 17313377, 17376889, 17379742, 17389763, 17426257, 17440984, 17488875, 17577920, 17643100, 17644735, 17764814, 17873518, 17920754, 17976519, 17976520, 18006699, 18048969, 18166783, 18166784, 18266209, 18451306, 18519816, 18587010, 18728027, 18768782, 18775810, 18815196, 18838204, 18849073, 19105233, 19223280, 19225136, 19287382, 19287384, 19336736, 19377078, 19447617, 19472396, 19541820, 19559071, 19615425, 19616600, 19691103, 19705431, 19826111, 19843380, 19941738, 19947779, 19965650, 20104275, 20160166, 20434300, 20585391, 20670476, 20966521, 21074499, 21228032, 21247487, 21331593, 21744327, 21750318, 21766300, 21933860, 22041356, 22059534, 22251709, 22300941, 22315499, 22333011, 22395523, 22418850, 22511494, 22686448, 22700720, 22898600, 22916261, 22997499, 23130336, 23216455, 23243278, 23265742, 23349688, 23633544, 23695894, 23865766, 23994117, 24009132, 24173087, 24265174, 24301930, 24325356, 24366362, 24381227, 24458835, 24463275, 24511651, 24535932, 24627549, 24753125, 24786775, 24858412, 24895336, 24897074, 24907356, 25042466, 25139350, 25171702, 25352381, 25637689, 25671252, 25719551, 25729726, 25849990, 25913509, 25934766, 25968903, 25970554, 25989112, 26028965, 26130950, 26163633, 26228487, 26256826, 26275051, 26423830, 26450985, 26491227, 26501981, 26514532, 26799697, 26890983, 26917989, 26990535, 27094252, 27100794, 27111338, 27132877, 27453224, 27486987, 27693531, 27706633, 27855276, 27875935, 27976991, 27991718, 28228104, 28335073, 28397442, 28406068, 28415571, 28685840, 28934680, 28990497, 29022213, 29047144, 29217833, 29390868, 29521158, 29979407, 30281843, 30889303, 30948488, 31289202, 31340302, 31441849, 31554376, 31668145, 31689837, 31856623, 31868244, 31994332, 32005002, 32425934, 32537949, 32819174, 32829377, 33158429, 33191357, 33599741, 33621485, 33664283, 34011648, 34022887, 34300032, 34424575, 34603575, 34749590, 34911786, 35633552, 35715969, 35754115, 35914897, 36288989, 36343116, 36397023, 36485130, 36744404, 36895113, 37512112, 37550636, 37584526, 38203347, 38238287, 38238303, 38386293, 40022704, 40022717, 40429745
Thrombocythemia Essential	Stimulate	16728702
Thrombocytopenia	Associate	27167495, 28674362, 29022213, 29565699, 34324169, 35576311
Thrombocytosis	Associate	16741247, 16912229, 17249502, 18166783, 18723264, 19692701, 20133898, 20151976, 20334914, 20888389, 21723416, 22041374, 22262773, 22532522, 23057517, 23594705, 23695894, 23876158, 24354892, 24371211, 24381227, 24641389, 25023898, 25684469, 26491227, 26573090, 27855276, 27929554, 29979407, 30292681, 30635218, 30726782, 31340302, 31652037, 32425934, 32956452, 32986384, 33307939, 33664283, 33789164, 34112633, 35129130, 35381074, 36864712, 37766423, 38238287, 38238303, 39657124
Thrombocytosis Familial X Linked	Associate	24381227
Thromboembolism	Associate	19174256, 24858412, 37369465
Thromboinflammation	Associate	39652998
Thrombophilia	Associate	17577920, 18796251, 21442635, 23975181, 25804613, 32654426, 33507708
Thrombosis	Associate	15858187, 16225651, 17229651, 17263783, 17412890, 17440984, 17854308, 17920754, 18616871, 19105233, 19336736, 19559071, 19941738, 19965680, 20104275, 20650526, 20670476, 21212285, 21505581, 21744327, 22203033, 22251709, 22446615, 22467227, 23130336, 23681871, 23695894, 23876158, 24366362, 24381227, 24458835, 24858412, 25573593, 25671252, 26163633, 26799697, 26890983, 26917989, 27094255, 27486987, 27706633, 27991718, 28397442, 28456851, 29022213, 29599206, 30281843, 30861111, 31994332, 32098944, 33639674, 34112633, 34981912, 35754115, 36343116, 36485130, 36557000, 36745865, 37872693, 38001082, 38568469, 39652998
Thyroid Cancer Papillary	Associate	30964171, 35090515
Thyroid Carcinoma Anaplastic	Associate	29615459, 30758123
Thyroid Neoplasms	Associate	31135274, 32737449, 35813296, 40198658
Toxoplasmosis	Associate	29717769
Triple Negative Breast Neoplasms	Associate	24986690, 26163633, 26317899, 27075627, 27389715, 29933930, 30295334, 30576871, 33280271, 33599741, 37185776, 38238287, 38238303
Tuberculosis Miliary	Associate	19652431
Tuberculosis Multidrug Resistant	Associate	30347596
Tukel syndrome	Associate	16741247, 22571758
Uniparental Disomy	Associate	15920007, 17564968, 18030353, 18723266, 21794206, 28513614, 35015307
Urinary Bladder Neoplasms	Associate	27322953, 27556503, 28770966, 29665744, 34034714, 36530656
Usher Syndrome Type IE	Associate	17454193
Uterine Cervical Neoplasms	Associate	25127987, 27581326, 31007650, 31298355, 34118143
Uveitis Anterior	Associate	27965977
Varicose Ulcer	Associate	38238287, 38238303
Vascular Diseases	Associate	32005002, 39652998
Vasculitis Leukocytoclastic Cutaneous	Associate	37171742
Venous Thromboembolism	Associate	17307838, 23116358, 31217187
Venous Thrombosis	Associate	17059429, 17263783, 17440984, 19559071, 21484303, 23876158, 23997080, 25339837, 25804613, 25834519, 27175028, 28291640, 31994332, 34440447, 34897288, 36042023, 38238287, 40287867
Vitiligo	Associate	26345342
Weight Gain	Associate	37316763
Weight Loss	Stimulate	29737494
Wells syndrome	Associate	37342057
X linked sideroblastic anemia	Associate	23594705