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:0000166	Function	Nucleotide binding	IEA
GO:0000791	Component	Euchromatin	IEA
GO:0001774	Process	Microglial cell activation	IEA
GO:0001774	Process	Microglial cell activation	ISS
GO:0001819	Process	Positive regulation of cytokine production	IEA
GO:0002250	Process	Adaptive immune response	IEA
GO:0002376	Process	Immune system process	IEA
GO:0004672	Function	Protein kinase activity	IEA
GO:0004672	Function	Protein kinase activity	NAS	9670957
GO:0004713	Function	Protein tyrosine kinase activity	EXP	9111318, 15143187, 19665053, 20304997
GO:0004713	Function	Protein tyrosine kinase activity	IDA	8007942, 12023369, 15690087, 20974963, 23061660
GO:0004713	Function	Protein tyrosine kinase activity	IEA
GO:0004713	Function	Protein tyrosine kinase activity	ISS
GO:0004713	Function	Protein tyrosine kinase activity	TAS	9670957
GO:0004715	Function	Non-membrane spanning protein tyrosine kinase activity	IBA
GO:0004715	Function	Non-membrane spanning protein tyrosine kinase activity	IDA	9657743, 15690087
GO:0004715	Function	Non-membrane spanning protein tyrosine kinase activity	IEA
GO:0004715	Function	Non-membrane spanning protein tyrosine kinase activity	TAS
GO:0005102	Function	Signaling receptor binding	IEA
GO:0005102	Function	Signaling receptor binding	IPI	11201744
GO:0005131	Function	Growth hormone receptor binding	IBA
GO:0005131	Function	Growth hormone receptor binding	IEA
GO:0005131	Function	Growth hormone receptor binding	ISS
GO:0005143	Function	Interleukin-12 receptor binding	IEA
GO:0005143	Function	Interleukin-12 receptor binding	ISS
GO:0005515	Function	Protein binding	IPI	9516124, 11679576, 11694501, 11970898, 15821101, 16437163, 17474147, 18692472, 19234114, 20353823, 21119685, 21806020, 24931576, 25092874, 26175413, 30413785
GO:0005524	Function	ATP binding	IEA
GO:0005634	Component	Nucleus	IDA	10502458, 19783980
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005737	Component	Cytoplasm	IDA	10502458
GO:0005737	Component	Cytoplasm	IEA
GO:0005768	Component	Endosome	IEA
GO:0005829	Component	Cytosol	IBA
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005886	Component	Plasma membrane	IDA
GO:0005886	Component	Plasma membrane	IPI	11114383
GO:0005886	Component	Plasma membrane	NAS	1702217
GO:0005901	Component	Caveola	IEA
GO:0005901	Component	Caveola	ISS
GO:0005925	Component	Focal adhesion	IDA
GO:0006325	Process	Chromatin organization	IEA
GO:0006338	Process	Chromatin remodeling	IEA
GO:0006366	Process	Transcription by RNA polymerase II	IEA
GO:0006915	Process	Apoptotic process	ISS
GO:0006955	Process	Immune response	NAS	19088061
GO:0006979	Process	Response to oxidative stress	IEA
GO:0007155	Process	Cell adhesion	IDA	15975931
GO:0007155	Process	Cell adhesion	IDA	23160466
GO:0007165	Process	Signal transduction	IEA
GO:0007165	Process	Signal transduction	ISS
GO:0007167	Process	Enzyme-linked receptor protein signaling pathway	IEA
GO:0007167	Process	Enzyme-linked receptor protein signaling pathway	ISS
GO:0007204	Process	Positive regulation of cytosolic calcium ion concentration	IEA
GO:0007259	Process	Cell surface receptor signaling pathway via JAK-STAT	IBA
GO:0007259	Process	Cell surface receptor signaling pathway via JAK-STAT	IDA	18692472, 31145836
GO:0007259	Process	Cell surface receptor signaling pathway via JAK-STAT	IEA
GO:0007259	Process	Cell surface receptor signaling pathway via JAK-STAT	IEA
GO:0007259	Process	Cell surface receptor signaling pathway via JAK-STAT	ISS
GO:0007498	Process	Mesoderm development	TAS	9590174
GO:0008284	Process	Positive regulation of cell population proliferation	IEA
GO:0008285	Process	Negative regulation of cell population proliferation	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:0009755	Process	Hormone-mediated signaling pathway	IEA
GO:0009898	Component	Cytoplasmic side of plasma membrane	IDA	12023369
GO:0010572	Process	Positive regulation of platelet activation	IDA	31145836
GO:0010667	Process	Negative regulation of cardiac muscle cell apoptotic process	IEA
GO:0010811	Process	Positive regulation of cell-substrate adhesion	IDA	10925297
GO:0012505	Component	Endomembrane system	IEA
GO:0016020	Component	Membrane	IEA
GO:0016301	Function	Kinase activity	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0019221	Process	Cytokine-mediated signaling pathway	IBA
GO:0019221	Process	Cytokine-mediated signaling pathway	IDA	8609418
GO:0019221	Process	Cytokine-mediated signaling pathway	IEA
GO:0019221	Process	Cytokine-mediated signaling pathway	ISS
GO:0019221	Process	Cytokine-mediated signaling pathway	TAS
GO:0019897	Component	Extrinsic component of plasma membrane	IDA	8007942
GO:0019901	Function	Protein kinase binding	IDA	10925297
GO:0020037	Function	Heme binding	IDA	21036157
GO:0022407	Process	Regulation of cell-cell adhesion	IEA
GO:0022408	Process	Negative regulation of cell-cell adhesion	IEA
GO:0030041	Process	Actin filament polymerization	NAS	10925297
GO:0030099	Process	Myeloid cell differentiation	IEA
GO:0030154	Process	Cell differentiation	IEA
GO:0030154	Process	Cell differentiation	ISS
GO:0030218	Process	Erythrocyte differentiation	IBA
GO:0030218	Process	Erythrocyte differentiation	IEA
GO:0030218	Process	Erythrocyte differentiation	ISS
GO:0030335	Process	Positive regulation of cell migration	IEA
GO:0030526	Component	Granulocyte macrophage colony-stimulating factor receptor complex	IDA	27396825
GO:0030546	Function	Signaling receptor activator activity	IEA
GO:0030546	Function	Signaling receptor activator activity	ISS	26227742
GO:0031103	Process	Axon regeneration	IEA
GO:0031234	Component	Extrinsic component of cytoplasmic side of plasma membrane	IC	7528775
GO:0031234	Component	Extrinsic component of cytoplasmic side of plasma membrane	IDA	8007942
GO:0031234	Component	Extrinsic component of cytoplasmic side of plasma membrane	IEA
GO:0031663	Process	Lipopolysaccharide-mediated signaling pathway	IEA
GO:0031663	Process	Lipopolysaccharide-mediated signaling pathway	ISS
GO:0031702	Function	Type 1 angiotensin receptor binding	IEA
GO:0031904	Component	Endosome lumen	TAS
GO:0031959	Process	Nuclear receptor-mediated mineralocorticoid signaling pathway	IEA
GO:0032024	Process	Positive regulation of insulin secretion	IEA
GO:0032729	Process	Positive regulation of type II interferon production	IDA	12023369, 19088061
GO:0032731	Process	Positive regulation of interleukin-1 beta production	IEA
GO:0032731	Process	Positive regulation of interleukin-1 beta production	ISS
GO:0032740	Process	Positive regulation of interleukin-17 production	NAS	16482511
GO:0032760	Process	Positive regulation of tumor necrosis factor production	IEA
GO:0032760	Process	Positive regulation of tumor necrosis factor production	ISS
GO:0032760	Process	Positive regulation of tumor necrosis factor production	ISS
GO:0032819	Process	Positive regulation of natural killer cell proliferation	IDA	19088061
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:0034050	Process	Symbiont-induced defense-related programmed cell death	IEA
GO:0034612	Process	Response to tumor necrosis factor	IDA	8609418
GO:0035166	Process	Post-embryonic hemopoiesis	IEA
GO:0035401	Function	Histone H3Y41 kinase activity	IDA	19783980
GO:0035556	Process	Intracellular signal transduction	IBA
GO:0035556	Process	Intracellular signal transduction	IEA
GO:0035556	Process	Intracellular signal transduction	IEA
GO:0035556	Process	Intracellular signal transduction	ISS
GO:0035556	Process	Intracellular signal transduction	TAS	9590174
GO:0035722	Process	Interleukin-12-mediated signaling pathway	IDA	7638186
GO:0035722	Process	Interleukin-12-mediated signaling pathway	IDA	7528775
GO:0036016	Process	Cellular response to interleukin-3	IEA
GO:0038043	Process	Interleukin-5-mediated signaling pathway	IDA	7613138
GO:0038065	Process	Collagen-activated signaling pathway	IMP	31145836
GO:0038155	Process	Interleukin-23-mediated signaling pathway	IDA	12023369
GO:0038155	Process	Interleukin-23-mediated signaling pathway	IDA	12023369
GO:0038156	Process	Interleukin-3-mediated signaling pathway	IDA	8007942
GO:0038157	Process	Granulocyte-macrophage colony-stimulating factor signaling pathway	IDA	18692472
GO:0038162	Process	Erythropoietin-mediated signaling pathway	IDA	2163696
GO:0038162	Process	Erythropoietin-mediated signaling pathway	IDA	9657743
GO:0038163	Process	Thrombopoietin-mediated signaling pathway	IDA	9122198
GO:0038163	Process	Thrombopoietin-mediated signaling pathway	IDA	15899890
GO:0042022	Component	Interleukin-12 receptor complex	IPI	39111304
GO:0042102	Process	Positive regulation of T cell proliferation	IDA	11114383
GO:0042102	Process	Positive regulation of T cell proliferation	IEA
GO:0042169	Function	SH2 domain binding	IPI	9727029
GO:0042307	Process	Positive regulation of protein import into nucleus	IEA
GO:0042393	Function	Histone binding	IEA
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
GO:0043065	Process	Positive regulation of apoptotic process	IEA
GO:0043066	Process	Negative regulation of apoptotic process	IEA
GO:0043066	Process	Negative regulation of apoptotic process	IEA
GO:0043161	Process	Proteasome-mediated ubiquitin-dependent protein catabolic process	IDA	11781573, 21980433, 34518685
GO:0043410	Process	Positive regulation of MAPK cascade	IEA
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:0043687	Process	Post-translational protein modification	IDA	19783980
GO:0045063	Process	T-helper 1 cell differentiation	IDA	14688310
GO:0045087	Process	Innate immune response	IEA
GO:0045121	Component	Membrane raft	IEA
GO:0045121	Component	Membrane raft	ISS
GO:0045348	Process	Positive regulation of MHC class II biosynthetic process	IEA
GO:0045348	Process	Positive regulation of MHC class II biosynthetic process	ISS
GO:0045428	Process	Regulation of nitric oxide biosynthetic process	IEA
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:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	ISS
GO:0046425	Process	Regulation of receptor signaling pathway via JAK-STAT	IEA
GO:0046425	Process	Regulation of receptor signaling pathway via JAK-STAT	ISS
GO:0046427	Process	Positive regulation of receptor signaling pathway via JAK-STAT	IDA	7638186, 12023369
GO:0046634	Process	Regulation of alpha-beta T cell activation	IEA
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:0050804	Process	Modulation of chemical synaptic transmission	IEA
GO:0050867	Process	Positive regulation of cell activation	IEA
GO:0051142	Process	Positive regulation of NK T cell proliferation	IDA	19088061
GO:0051142	Process	Positive regulation of NK T cell proliferation	NAS	19088061
GO:0051428	Function	Peptide hormone receptor binding	IEA
GO:0051897	Process	Positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	IEA
GO:0051897	Process	Positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	ISS
GO:0051897	Process	Positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	TAS
GO:0060333	Process	Type II interferon-mediated signaling pathway	IEA
GO:0060333	Process	Type II interferon-mediated signaling pathway	NAS	15864272
GO:0060333	Process	Type II interferon-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	2825030
GO:0060396	Process	Growth hormone receptor signaling pathway	IDA	10925297
GO:0060397	Process	Growth hormone receptor signaling pathway via JAK-STAT	IBA
GO:0060397	Process	Growth hormone receptor signaling pathway via JAK-STAT	IDA	12552091
GO:0060397	Process	Growth hormone receptor signaling pathway via JAK-STAT	IDA	15690087
GO:0060397	Process	Growth hormone receptor signaling pathway via JAK-STAT	IEA
GO:0060397	Process	Growth hormone receptor signaling pathway via JAK-STAT	ISS
GO:0060399	Process	Positive regulation of growth hormone receptor signaling pathway	IEA
GO:0060399	Process	Positive regulation of growth hormone receptor signaling pathway	ISS
GO:0060400	Process	Negative regulation of growth hormone receptor signaling pathway	IDA	21980433
GO:0061180	Process	Mammary gland epithelium development	IEA
GO:0061180	Process	Mammary gland epithelium development	ISS
GO:0070102	Process	Interleukin-6-mediated signaling pathway	TAS
GO:0070665	Process	Positive regulation of leukocyte proliferation	IDA	18692472
GO:0070671	Process	Response to interleukin-12	IDA	7528775
GO:0070757	Process	Interleukin-35-mediated signaling pathway	TAS
GO:0071222	Process	Cellular response to lipopolysaccharide	IEA
GO:0071549	Process	Cellular response to dexamethasone stimulus	IEA
GO:0072536	Component	Interleukin-23 receptor complex	IPI	12023369
GO:0097191	Process	Extrinsic apoptotic signaling pathway	IEA
GO:0097191	Process	Extrinsic apoptotic signaling pathway	ISS
GO:0098586	Process	Cellular response to virus	NAS	15864272
GO:0098794	Component	Postsynapse	IEA
GO:0098978	Component	Glutamatergic synapse	IEA
GO:0120162	Process	Positive regulation of cold-induced thermogenesis	IEA
GO:0120162	Process	Positive regulation of cold-induced thermogenesis	ISS	26515423
GO:0140546	Process	Defense response to symbiont	IEA
GO:1900016	Process	Negative regulation of cytokine production involved in inflammatory response	IDA	21606497
GO:1900016	Process	Negative regulation of cytokine production involved in inflammatory response	IEA
GO:1900016	Process	Negative regulation of cytokine production involved in inflammatory response	ISS
GO:1900016	Process	Negative regulation of cytokine production involved in inflammatory response	ISS
GO:1901731	Process	Positive regulation of platelet aggregation	IDA	31145836
GO:1902533	Process	Positive regulation of intracellular signal transduction	IEA
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:1905539	Process	Regulation of postsynapse to nucleus signaling pathway	IEA
GO:1905869	Process	Negative regulation of 3'-UTR-mediated mRNA stabilization	IDA	21606497
GO:2000318	Process	Positive regulation of T-helper 17 type immune response	NAS	16482511
GO:2001235	Process	Positive regulation of apoptotic signaling pathway	IEA

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

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Acquired polycythemia vera	Likely pathogenic; Pathogenic	rs77375493	RCV000015769	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Acute myeloid leukemia	Likely pathogenic; Pathogenic	rs77375493, rs121912472	RCV000015771 RCV000015773	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Budd-Chiari syndrome, susceptibility to, somatic	Likely pathogenic; Pathogenic	rs77375493	RCV000015772	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hepatocellular carcinoma	Likely pathogenic	rs2488857097	RCV005930801	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
JAK2-related disorder	Likely pathogenic; Pathogenic	rs77375493	RCV004751211	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Myeloproliferative disorder	Likely pathogenic; Pathogenic	rs77375493	RCV000427081	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Polycythemia	Likely pathogenic; Pathogenic	rs77375493	RCV001003804	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Primary familial polycythemia due to EPO receptor mutation	Likely pathogenic; Pathogenic	rs77375493	RCV000022628	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Primary myelofibrosis	Likely pathogenic; Pathogenic	rs77375493	RCV000015770	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Splenomegaly	Likely pathogenic; Pathogenic	rs77375493	RCV001003803	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Thrombocythemia 3	Likely pathogenic; Pathogenic	rs77375493	RCV000022627 RCV000022629	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Adrenal cortex carcinoma	-	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANEMIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANKYLOSING SPONDYLITIS	—	Disgenet, GWAS catalog Disgenet, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ARTHRITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ASTHMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOIMMUNE DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOIMMUNE THYROID DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST IMPLANT-ASSOCIATED ANAPLASTIC LARGE CELL LYMPHOMA	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Budd-Chiari syndrome	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar CTD, ClinVar, Disgenet, Orphanet CTD, ClinVar, Disgenet, Orphanet CTD, ClinVar, Disgenet, Orphanet CTD, ClinVar, Disgenet, Orphanet CTD, ClinVar, Disgenet, Orphanet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
CALCINOSIS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CELIAC DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC LEFT-SIDED ULCERATIVE COLITIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CLONAL HEMATOPOIESIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLITIS, ULCERATIVE	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMMON VARIABLE IMMUNODEFICIENCY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CROHN'S DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CROHNS DISEASE OF LARGE BOWEL	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EOSINOPHILIC ESOPHAGITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ERYTHROCYTOSIS FAMILIAL, 1	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ERYTHROCYTOSIS, FAMILIAL, 1	—	HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ESSENTIAL THROMBOCYTHEMIA	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EYE DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL THROMBOCYTOSIS	—	Disgenet, Orphanet Disgenet, Orphanet Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GASTROINTESTINAL DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GENETIC PREDISPOSITION TO DISEASE	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEART VALVE DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEART VALVE DISEASES	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEART VALVE PROLAPSE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMATOLOGIC DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMORRHAGIC DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEPATIC VEIN THROMBOSIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary breast ovarian cancer syndrome	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary cancer	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERLIPIDEMIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IDIOPATHIC APLASTIC ANEMIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INFLAMMATORY BOWEL DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Inherited susceptibility to asthma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IRON METABOLISM DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
JUVENILE IDIOPATHIC ARTHRITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEUKEMIA	—	CTD, GWAS catalog CTD, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEUKEMIA, ACUTE MYELOID	—	HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEUKEMIA, MYELOID, ACUTE	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER CIRRHOSIS, EXPERIMENTAL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER NEOPLASMS, EXPERIMENTAL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MULTIPLE SCLEROSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYELODYSPLASTIC SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYELOPROLIFERATIVE DISORDERS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOCARDIAL ISCHEMIA	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neoplasm	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-ALCOHOLIC FATTY LIVER DISEASE	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NONALCOHOLIC STEATOHEPATITIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OROPHARYNX CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN FAILURE, PREMATURE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POLYCYTHEMIA VERA	—	CTD, GWAS catalog, HPO, Orphanet CTD, GWAS catalog, HPO, Orphanet CTD, GWAS catalog, HPO, Orphanet CTD, GWAS catalog, HPO, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POLYCYTHEMIA, PRIMARY FAMILIAL AND CONGENITAL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PORTAL HYPERTENSION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Precursor B-cell acute lymphoblastic leukemia	-	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Premature ovarian failure	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATIC NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSORIASIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RESPIRATORY SYSTEM DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RHEUMATOID ARTHRITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCLEROSING CHOLANGITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SKIN DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SMALL ROUND CELL TUMOR	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPLENIC DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Squamous cell carcinoma of the head and neck	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SYSTEMIC LUPUS ERYTHEMATOSUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
THROMBOCYTHEMIA, ESSENTIAL	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
THROMBOCYTOPENIA 4	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
THROMBOCYTOSIS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
THROMBOEMBOLISM	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 1 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ULCERATIVE COLITIS	—	Disgenet, GWAS catalog Disgenet, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
URINARY BLADDER NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UTERINE CERVICAL NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VENOUS THROMBOSIS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
5q-syndrome	5q-syndrome	BEFREE	19562618		★☆☆☆☆ Found in Text Mining only
Abetalipoproteinemia	Abetalipoproteinemia	BEFREE	24504330		★☆☆☆☆ Found in Text Mining only
Ablepharon macrostomia syndrome	Ablepharon macrostomia syndrome	Pubtator	39457093	Associate	★☆☆☆☆ Found in Text Mining only
Acromegaly	Acromegaly	BEFREE	22364960		★☆☆☆☆ Found in Text Mining only
Activated Protein C Resistance	Activated Protein C Resistance	LHGDN	18768782		★☆☆☆☆ Found in Text Mining only
Activated Protein C Resistance	Activated Protein C Resistance	BEFREE	19105233		★☆☆☆☆ Found in Text Mining only
Acute Coronary Syndrome	Coronary Syndrome	BEFREE	26825737		★☆☆☆☆ Found in Text Mining only
Acute Erythroblastic Leukemia	Erythroblastic Leukemia	BEFREE	16598306, 17022694, 17178722, 18245540, 20667821, 28068330, 28365441, 30717771, 30981578		★☆☆☆☆ Found in Text Mining only
Acute Erythroblastic Leukemia	Erythroblastic Leukemia	LHGDN	18059484		★☆☆☆☆ Found in Text Mining only
Acute erythroleukemia	Erythroleukemia	BEFREE	19713696		★☆☆☆☆ Found in Text Mining only
Acute leukemia	Leukemia	BEFREE	16007127, 16037387, 17068151, 17077140, 18024602, 18297515, 18528425, 18618714, 21091042, 21658659, 22168550, 22818858, 23991929, 31741139		★☆☆☆☆ Found in Text Mining only
Acute leukemia	Leukemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Acute lymphoblastic leukemia with lymphomatous features	Lymphoblastic Leukemia With Lymphomatous Features	CLINVAR_DG	18805579, 19470474, 22368270, 22955920		★☆☆☆☆ Found in Text Mining only
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	16645202, 17068151, 17515895, 18618714, 18805579, 18927438, 19120350, 19965641, 20132407, 20538800, 20594592, 20807819, 22373549, 22441210, 22733019, 22760793, 23340138, 25105841, 25515960, 25951811, 27860260, 27870151, 28557976, 28831147, 29907650, 30401948, 9326218		★☆☆☆☆ Found in Text Mining only
Acute Megakaryocytic Leukemias	Megakaryocytic Leukemia	BEFREE	16037387, 16598306, 18297515, 25143485, 31698461		★☆☆☆☆ Found in Text Mining only
Acute monocytic leukemia	Monocytic Leukemia	BEFREE	17229652, 18030353, 20001230, 21689158, 29417354, 29767839, 29979407		★☆☆☆☆ Found in Text Mining only
Acute Myeloid Leukemia (AML-M2)	Leukemia	CTD_human_DG	16247455		★☆☆☆☆ Found in Text Mining only
Acute Myeloid Leukemia, M1	Myeloid Leukemia	CTD_human_DG	16247455		★☆☆☆☆ Found in Text Mining only
Acute pancreatitis	Pancreatitis	BEFREE	21509626, 29210652, 30186433, 31606729		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	28795418		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma Of Esophagus	Esophageal Cancer	BEFREE	18771702		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	20032397, 27025877, 28639892, 29281186, 29516506, 31407334, 31819639, 31844068		★☆☆☆☆ Found in Text Mining only
Adjustment Disorders	Adjustment Disorders	BEFREE	19605821		★☆☆☆☆ Found in Text Mining only
Adult Acute Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	22373549, 22441210, 22760793, 23340138, 25951811, 27870151, 28831147		★☆☆☆☆ Found in Text Mining only
Adult Diffuse Large B-Cell Lymphoma	B-cell Lymphoma	BEFREE	17460466, 20331734, 27268052		★☆☆☆☆ Found in Text Mining only
Adult Diffuse Large B-Cell Lymphoma	B-cell Lymphoma	CGI_DG			★☆☆☆☆ Found in Text Mining only
Adult Hodgkin Lymphoma	Hodgkin Lymphoma	BEFREE	17460466, 17652621, 21156283, 22869151, 24610827, 27106701, 29902298, 31366526, 31707975		★☆☆☆☆ Found in Text Mining only
Adult Medulloblastoma	Medulloblastoma	BEFREE	29168692		★☆☆☆☆ Found in Text Mining only
Aicardi Goutieres syndrome	Aicardi goutieres syndrome	Pubtator	37171742	Associate	★☆☆☆☆ Found in Text Mining only
Amyloidosis cutis dyschromia	Amyloidosis Cutis Dyschromia	BEFREE	31087583		★☆☆☆☆ Found in Text Mining only
Anaphylaxis	Anaphylaxis	Pubtator	37316763	Associate	★☆☆☆☆ Found in Text Mining only
Anaplastic thyroid carcinoma	Anaplastic thyroid cancer	BEFREE	30419054		★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	BEFREE	16871275, 17408465, 18028479, 20113830, 20425392, 21245760, 23514013, 25323779, 27167495, 27785927, 27789678, 28622463, 30675650		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anemia	Anemia	Pubtator	19549988, 21239780, 21442636, 22081489, 26370613, 27167495, 29565699, 34324169	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anemia	Anemia	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anemia Hemolytic	Hemolytic anemia	Pubtator	18028479	Associate	★☆☆☆☆ Found in Text Mining only
Anemia Refractory	Refractory anemia	Pubtator	16741247, 18166783, 19692701, 20194893, 20334914, 22532522, 26874914	Associate	★☆☆☆☆ Found in Text Mining only
Aneuploidy	Aneuploidy	Pubtator	33952700	Associate	★☆☆☆☆ Found in Text Mining only
Ankylosing spondylitis	Ankylosing Spondylitis	BEFREE	20627814, 27458846, 29044146, 29880011, 30299251		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANOPHTHALMIA AND PULMONARY HYPOPLASIA	Syndromic microphthalmia	BEFREE	29408481		★☆☆☆☆ Found in Text Mining only
Anophthalmia with pulmonary hypoplasia	Anophthalmia	Pubtator	37210549	Associate	★☆☆☆☆ Found in Text Mining only
Anorexia	Anorexia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	BEFREE	28336920		★☆☆☆☆ Found in Text Mining only
Anxiety Disorders	Anxiety Disorder	BEFREE	28336920		★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm Abdominal	Aortic aneurysm	Pubtator	34469433	Associate	★☆☆☆☆ Found in Text Mining only
Aortic Dissection	Aortic dissection	Pubtator	24586754	Associate	★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	17726017, 28258089, 28700834, 28724798, 30571460, 31171272		★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	BEFREE	22800927, 28562338, 28634854, 29228301, 29501867, 29942991, 31562605		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Arthritis	Arthritis	Pubtator	28634854, 30299251	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	16174768, 23968543, 26062018, 31181818, 34125889, 38272919, 39724808	Associate	★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	Pubtator	26399222, 32512817, 37316763, 39380119	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Astrocytoma	Astrocytoma	BEFREE	20336349, 25907517		★☆☆☆☆ Found in Text Mining only
Ataxia Telangiectasia	Ataxia telangiectasia	Pubtator	18166783, 20334914, 23695894, 24399021, 32573691	Associate	★☆☆☆☆ Found in Text Mining only
Atelosteogenesis type 2	Atelosteogenesis	Pubtator	33507708	Associate	★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	17726017, 28258089, 28700834, 28724798, 30571460, 31171272		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	LHGDN	17726017		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	Pubtator	37344447	Associate	★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial fibrillation	Pubtator	40607626	Associate	★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorder	Autism	Pubtator	31838722	Associate	★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	31838722		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	22205606, 22209716, 23372669, 23611997, 30617940, 31288716		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune disease	Pubtator	23372669, 33903979	Associate	★☆☆☆☆ Found in Text Mining only
Autonomic Nervous System Diseases	Autonomic nervous system disease	Pubtator	31289202	Associate	★☆☆☆☆ Found in Text Mining only
Avellino corneal dystrophy	Avellino Corneal Dystrophy	BEFREE	31087583		★☆☆☆☆ Found in Text Mining only
B Acute Lymphoblastic Leukemia with t(9;22)(q34.1;q11.2); BCR-ABL1	Lymphoblastic Leukemia	BEFREE	22955920, 30154155		★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	10676635, 15572583, 16287070, 21091042, 29340070, 29393473, 29928398, 30675310, 31059018, 31754348		★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	LHGDN	18032883, 18035697		★☆☆☆☆ Found in Text Mining only
B-CELL MALIGNANCY, LOW-GRADE	Lymphocytic Leukemia	BEFREE	22890406		★☆☆☆☆ Found in Text Mining only
Behcet Syndrome	Behcet Syndrome	BEFREE	22203033, 22205606		★☆☆☆☆ Found in Text Mining only
Benign Prostatic Hyperplasia	Benign Prostatic Hyperplasia	BEFREE	20603212		★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	27322953, 31289569		★☆☆☆☆ Found in Text Mining only
Blast Phase	Blast phase chronic myelogenous leukemia	BEFREE	16442619, 25873496, 27521308		★☆☆☆☆ Found in Text Mining only
Blood Coagulation Disorders	Blood coagulation disorder	Pubtator	19105233, 37369465	Associate	★☆☆☆☆ Found in Text Mining only
Blood Coagulation Disorders	Blood Coagulation Disorders	BEFREE	24951423		★☆☆☆☆ Found in Text Mining only
Blood Platelet Disorders	Platelet disorder	Pubtator	39652998	Associate	★☆☆☆☆ Found in Text Mining only
Bone Diseases	Bone Disease	BEFREE	28708884		★☆☆☆☆ Found in Text Mining only
Bone Marrow Diseases	Bone marrow diseases	Pubtator	32956452, 34905501	Associate	★☆☆☆☆ Found in Text Mining only
Brachydactyly Type D	Brachydactyly	Pubtator	28504607	Associate	★☆☆☆☆ Found in Text Mining only
Brain Ischemia	Brain ischemia	Pubtator	36397023	Associate	★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain Neoplasms	BEFREE	20336349		★☆☆☆☆ Found in Text Mining only
Breast Cancer, Familial	Breast Cancer	BEFREE	17639043		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	17639043, 18228120, 18587580, 18829531, 21633165, 21785467, 24469394, 24764577, 24932998, 25059472, 25104439, 25310198, 26191195, 27862996, 28440514, 29130936, 29383118, 29388151, 29436642, 29934528, 29951107, 29959151, 30526368, 30576871, 30930994, 31516339		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	10938266, 18271926, 20826546, 21785467, 23677069, 24764577, 25059472, 25104439, 26191195, 26317899, 28443471, 30576871, 32503225, 33019728, 33046620, 33397365, 34327780, 34572592, 36088510, 36323529, 36431925, 36901916, 37958803, 40003884	Associate	★☆☆☆☆ Found in Text Mining only
Budd-Chiari Syndrome	Budd-Chiari syndrome	BEFREE	16762626, 16827884, 17133457, 18600100, 19308656, 21264914, 21364191, 21761323, 22467227, 23980667, 25698270, 26238013, 26626649, 28710306		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Budd-Chiari Syndrome	Budd-Chiari syndrome	CTD_human_DG	16762626, 19293426		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Budd-Chiari Syndrome	Budd-Chiari syndrome	CLINVAR_DG	16762626, 18600100, 19293426, 23425079, 23980667, 25698270		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Budd-Chiari Syndrome	Budd-Chiari syndrome	LHGDN	17849060		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Budd-Chiari Syndrome	Budd-Chiari syndrome	ORPHANET_DG	26557140		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Budd-Chiari syndrome	Budd-Chiari syndrome	Orphanet			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Budd-Chiari Syndrome	Budd-Chiari syndrome	HPO_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Burkitt Lymphoma	Burkitt lymphoma	Pubtator	30194286, 33994432	Associate	★☆☆☆☆ Found in Text Mining only
Burkitt Lymphoma	Burkitt`s Lymphoma	BEFREE	31000522		★☆☆☆☆ Found in Text Mining only
CAMPOMELIC DYSPLASIA	Campomelic Dysplasia	BEFREE	17263783, 17854308, 18484677, 18720212, 19941738		★☆☆☆☆ Found in Text Mining only
Campomelic Dysplasia	Campomelic dysplasia	Pubtator	17313377, 17643100, 17854308, 17873518, 18048969, 19154659, 20966521	Associate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	20012909, 21173100, 23449277, 23592968, 24718681, 32234492	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	28795418		★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	Pubtator	29615459	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Basal Cell	Basal cell carcinoma	Pubtator	31870221	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	24980149, 25778631, 28387906, 29651140, 29722127, 29805309, 30264546, 30453302, 30657556, 30779070, 31485610, 33507708, 34148288, 34319031, 35418176, 36461603	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Merkel Cell	Merkel cell carcinoma	Pubtator	34724284	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	27322953, 31289569		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	21333372, 22712764, 26762740, 27025877, 28639892, 28883791, 29746867, 30378152, 30634502, 31250048		★☆☆☆☆ Found in Text Mining only
Carcinoma Ovarian Epithelial	Epithelial ovarian carcinoma	Pubtator	27825119	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	26530532, 33029256	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	17898043, 22899991, 24247930, 26911335, 28453463, 30996253, 34789838, 37863123	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Small Cell	Small cell carcinoma	Pubtator	35662501	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	32483193, 35140701, 36780540	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	23857432, 27825119		★☆☆☆☆ Found in Text Mining only
Cardioembolic stroke	Cardioembolic Stroke	BEFREE	31561071		★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Hypertrophic	Hypertrophic cardiomyopathy	Pubtator	33558530	Associate	★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	20884719, 25698270, 36242602, 37813367, 39652998	Associate	★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	30417440		★☆☆☆☆ Found in Text Mining only
Carotid Artery Diseases	Carotid artery disease	Pubtator	32005002	Associate	★☆☆☆☆ Found in Text Mining only
Carotid Artery Thrombosis	Carotid artery thrombosis	Pubtator	18166784, 18616871, 31994332, 38238287	Associate	★☆☆☆☆ Found in Text Mining only
Carotid Stenosis	Carotid artery stenosis	Pubtator	32005002	Associate	★☆☆☆☆ Found in Text Mining only
Celiac Disease	Celiac disease	Pubtator	26859134	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cerebral Hemorrhage	Cerebral hemorrhage	Pubtator	36397023	Associate	★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Cerebral Infarction	BEFREE	28771727, 29393445, 30657573		★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Ischemic stroke	Pubtator	31340302, 36397023, 36969251, 37344447, 37512112, 37522722	Associate	★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	LHGDN	17488346		★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	20616539, 28625126, 28923114, 30056970, 31038184		★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebrovascular Disorders	Cerebrovascular disorder	Pubtator	39652998	Associate	★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	25127987, 31409905, 31817106		★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	CTD_human_DG	27470402		★☆☆☆☆ Found in Text Mining only
Cervix carcinoma	Cervix carcinoma	BEFREE	25127987, 31409905, 31817106		★☆☆☆☆ Found in Text Mining only
Childhood Acute Lymphoblastic Leukemia	Lymphoblastic Leukemia	BEFREE	19470474, 22373549, 22441210, 22760793, 23340138, 25951811, 27870151, 28831147, 28886309, 29025600		★☆☆☆☆ Found in Text Mining only
Childhood Acute Myeloid Leukemia	Acute Myeloid Leukemia	BEFREE	29979407		★☆☆☆☆ Found in Text Mining only
Childhood Medulloblastoma	Medulloblastoma	BEFREE	29168692		★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	Pubtator	35790790	Associate	★☆☆☆☆ Found in Text Mining only
Cholecystitis	Cholecystitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Choriocarcinoma	Choriocarcinoma	LHGDN	17237409		★☆☆☆☆ Found in Text Mining only
Chromosomal Instability	Chromosomal instability	Pubtator	26356819	Associate	★☆☆☆☆ Found in Text Mining only
Chromosome 5q Deletion Syndrome	Chromosome 5q deletion syndrome	Pubtator	21523797	Associate	★☆☆☆☆ Found in Text Mining only
CHROMOSOME 8p11 MYELOPROLIFERATIVE SYNDROME	8p11 Myeloproliferative Syndrome	BEFREE	17351342		★☆☆☆☆ Found in Text Mining only
Chronic Disease	Chronic disease	Pubtator	16741247, 16825501, 17854308, 19254349, 35129130	Associate	★☆☆☆☆ Found in Text Mining only
Chronic eosinophilic leukemia	Eosinophilic Leukemia	BEFREE	18024388, 20191332, 21431636, 22523564, 29029406		★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	BEFREE	28465704, 31526861		★☆☆☆☆ Found in Text Mining only
Chronic leukemia (category)	Leukemia	BEFREE	11882364		★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	16598306, 18849073, 19625083, 19816006, 22884083, 22890406, 22915648, 26402369, 28089238, 28722170, 31817171		★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	LHGDN	17105449, 17169814		★☆☆☆☆ Found in Text Mining only
Chronic myeloproliferative disorder	Myeloproliferative disorder	BEFREE	15781101, 15860661, 15920007, 15985544, 16007902, 16037387, 16178503, 16210034, 16285006, 16304380, 16321863, 16330446, 16408098, 16537803, 16572198, 16598306, 16627272, 16675707, 16675710, 16762626, 16810609, 16810610, 16810614, 16827884, 16831057, 16879015, 16901656, 16912229, 16919893, 16930139, 16946305, 16998940, 17013813, 17022694, 17045648, 17059429, 17124066, 17124067, 17133457, 17145859, 17210076, 17213018, 17230231, 17251334, 17263783, 17307838, 17313377, 17317861, 17336249, 17363731, 17379742, 17384221, 17389152, 17440677, 17541402, 17574970, 17587878, 17596137, 17643100, 17687555, 17698191, 17703302, 17764814, 17852451, 17854308, 17920755, 17961178, 17976519, 17981210, 17984312, 17984313, 18003935, 18024602, 18024651, 18032883, 18032973, 18048969, 18059484, 18092959, 18160670, 18165278, 18318760, 18328792, 18336541, 18394555, 18464114, 18479730, 18528425, 18528646, 18555525, 18612101, 18661406, 18720212, 18723264, 18723266, 18754026, 18754034, 18796251, 18843285, 18923436, 19004076, 19046316, 19074061, 19074062, 19135773, 19154659, 19167611, 19174256, 19175693, 19215672, 19254349, 19258483, 19269737, 19277418, 19287382, 19287384, 19293402, 19295546, 19308656, 19387008, 19387466, 19393837, 19442200, 19466975, 19478480, 19482442, 19564637, 19580432, 19595684, 19625083, 19693645, 19747364, 19789961, 19816006, 19846812, 19939582, 19941738, 19942343, 19959098, 20008249, 20008300, 20028972, 20068184, 20113830, 20130243, 20133898, 20153505, 20154217, 20186505, 20191331, 20191332, 20214447, 20331577, 20331734, 20331763, 20362232, 20404132, 20417861, 20425393, 20428194, 20472827, 20489053, 20507304, 20508616, 20541703, 20551270, 20553273, 20587663, 20616539, 20629097, 20728437, 20730051, 20805747, 20809224, 20816582, 20861460, 20870899, 20888389, 20966521, 21082983, 21118380, 21198321, 21212285, 21224469, 21242185, 21307773, 21326037, 21331593, 21362419, 21364191, 21431636, 21435189, 21474922, 21512135, 21521147, 21531978, 21558064, 21562050, 21570117, 21599574, 21599579, 21646683, 21653937, 21674578, 21698292, 21761323, 21766300, 21785463, 21786333, 21789226, 21790864, 21823028, 21860020, 21904853, 21985400, 22006129, 22018274, 22051730, 22076463, 22076943, 22106054, 22132729, 22160036, 22170482, 22203033, 22227528, 22234689, 22251709, 22262773, 22271575, 22278747, 22300941, 22304488, 22315494, 22333011, 22385957, 22431577, 22463737, 22467227, 22469236, 22579713, 22706852, 22722988, 22820254, 22820988, 22847163, 22864358, 22875628, 22960131, 22991927, 22995223, 23009934, 23009937, 23010802, 23023734, 23054641, 23057517, 23111066, 23111067, 23130336, 23157224, 23188718, 23233635, 23300995, 23313046, 23340138, 23349688, 23382981, 23386690, 23391844, 23406773, 23420150, 23430670, 23432162, 23445613, 23469088, 23487027, 23535062, 23537216, 23558526, 23560534, 23588264, 23614569, 23633193, 23670175, 23731455, 23750118, 23781511, 23827351, 23845539, 23846442, 23855810, 23860450, 23863895, 23865766, 23916380, 23977767, 23986553, 23991929, 24066127, 24068492, 24173087, 24251790, 24258498, 24265174, 24293258, 24309205, 24319229, 24354892, 24362471, 24371211, 24381227, 24404189, 24463275, 24480985, 24504330, 24511651, 24627006, 24677207, 24729973, 24740812, 24766055, 24811089, 24860972, 24951423, 24957246, 24963593, 25012914, 25015051, 25015634, 25023898, 25042466, 25082025, 25115511, 25116092, 25189720, 25196853, 25201757, 25288776, 25339837, 25479752, 25482455, 25526816, 25527813, 25538080, 25559461, 25666256, 25696866, 25696868, 25696878, 25698270, 25719551, 25824690, 25824741, 25849990, 25860380, 25873496, 25912019, 25951317, 25959311, 26062813, 26071474, 26082513, 26163633, 26175413, 26189968, 26209551, 26227853, 26227854, 26235214, 26290261, 26370832, 26402369, 26460248, 26472029, 26486739, 26487696, 26492355, 26538820, 26552452, 26555437, 26754830, 26755644, 26843622, 26852656, 26874914, 26894383, 26931113, 26935241, 27018326, 27061303, 27090962, 27124925, 27134074, 27169616, 27258562, 27282563, 27365426, 27389715, 27402956, 27423004, 27427771, 27444979, 27447873, 27468853, 27486987, 27500783, 27521308, 27686170, 27693531, 27740635, 27865464, 27913528, 27924369, 27956543, 27997717, 28008177, 28038963, 28068330, 28159736, 28161773, 28168700, 28228434, 28233092, 28251679, 28260027, 28314843, 28335073, 28340692, 28389907, 28390197, 28419183, 28483676, 28484264, 28501635, 28554272, 28609766, 28625126, 28668884, 28673391, 28831147, 28903325, 28990497, 29027642, 29042365, 29047144, 29066347, 29107666, 29134817, 29150911, 29202466, 29214759, 29306106, 29323541, 29355841, 29464483, 29466766, 29472557, 29492207, 29508552, 29516275, 29516749, 29575945, 29643232, 29650801, 29656438, 29717448, 29767839, 29842959, 29928488, 29951914, 30025280, 30039550, 30056580, 30074634, 30084272, 30103245, 30292681, 30295334, 30401948, 30416690, 30452397, 30463063, 30504299, 30516848, 30629793, 30717771, 30730307, 30772299, 30829649, 31071164, 31106152, 31208359, 31229378, 31248375, 31255914, 31258539, 31289316, 31369569, 31377025, 31434702, 31449697, 31511238, 31563618, 31571131, 31697804, 31697834, 31704857, 31725895, 31746601, 31749302, 31750881, 31776465, 31788449, 31833567, 31837568		★☆☆☆☆ Found in Text Mining only
Chronic Neutrophilic Leukemia	Neutrophilic Leukemia	BEFREE	15860661, 16330446, 17109389, 23391844, 25520049		★☆☆☆☆ Found in Text Mining only
Chuvash erythrocytosis	Chuvash Erythrocytosis	BEFREE	21685897		★☆☆☆☆ Found in Text Mining only
Cirrhosis	Cirrhosis	BEFREE	25698270, 26385087		★☆☆☆☆ Found in Text Mining only
Cirrhosis	Cirrhosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognitive disorder	BEFREE	30552029		★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	32846801	Associate	★☆☆☆☆ Found in Text Mining only
Colitis Ulcerative	Ulcerative colitis	Pubtator	24382939, 27664279, 27852544, 36232773	Associate	★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	22121102, 25541970, 26795301, 28689994, 30706361		★☆☆☆☆ Found in Text Mining only
Colonic Diseases	Colonic disease	Pubtator	23382536	Associate	★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic Neoplasms	LHGDN	16912864		★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	18320073, 8530527	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	22050790, 22121102, 25684945, 26151358, 26638167, 29119054, 29229353, 29448205, 29575334, 29892198, 30107178, 30548332, 31472054, 31472144, 31511084		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	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	Associate	★☆☆☆☆ Found in Text Mining only
Complement Component 6 Deficiency	Complement component deficiency	Pubtator	23907460	Associate	★☆☆☆☆ Found in Text Mining only
Congenital chromosomal disease	Congenital Chromosomal Disease	BEFREE	16873677, 18503828, 20417872, 21376394, 21502425, 25189726, 26130950		★☆☆☆☆ Found in Text Mining only
Congenital Thrombotic Thrombocytopenic Purpura	Congenital Thrombotic Thrombocytopenic Purpura	BEFREE	29738371		★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	30378117		★☆☆☆☆ Found in Text Mining only
Connective Tissue Diseases	Connective Tissue Disease	BEFREE	19482442		★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	22899991, 27710896, 28453463, 28765891, 29678569, 30229899, 31540495		★☆☆☆☆ Found in Text Mining only
Coronary Aneurysm	Coronary aneurysm	Pubtator	33191357	Associate	★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	23116358, 28636844, 29039526, 29393473, 29441020		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	Pubtator	25345590, 39460851	Associate	★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	28636844, 30723273		★☆☆☆☆ Found in Text Mining only
Coronary Disease	Coronary artery disease	Pubtator	32005002, 34125889	Associate	★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	28636844		★☆☆☆☆ Found in Text Mining only
CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT	Craniometaphyseal Dysplasia	BEFREE	17263783, 18484677, 19941738		★☆☆☆☆ Found in Text Mining only
CREST Syndrome	CREST Syndrome	BEFREE	21425123		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	GWASDB_DG	18587394		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	BEFREE	19592695, 20109474, 21831733, 22065112, 22269120, 23511034, 24382939, 24385239, 25463744, 28139755, 29441677		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn disease	Pubtator	24382939, 28729389	Stimulate	★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn disease	Pubtator	27852544, 29441677	Associate	★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Cyclic neutropenia	Cyclic neutropenia	Pubtator	16728702, 17643100, 29866652, 30861111, 34210413, 34413458, 38225345	Associate	★☆☆☆☆ Found in Text Mining only
Cystic kidney	Cystic Kidney Disease	BEFREE	26984954		★☆☆☆☆ Found in Text Mining only
Deep Vein Thrombosis	Thrombosis	BEFREE	19478480, 25559461		★☆☆☆☆ Found in Text Mining only
Deep Vein Thrombosis	Thrombosis	CTD_human_DG	20434300		★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	30361290, 31563117		★☆☆☆☆ Found in Text Mining only
Dementia, Vascular	Dementia	BEFREE	28488208		★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	31545956		★☆☆☆☆ Found in Text Mining only
Dermatitis	Dermatitis	BEFREE	30622245		★☆☆☆☆ Found in Text Mining only
Dermatitis Atopic	Atopic dermatitis	Pubtator	27498343, 37316763	Associate	★☆☆☆☆ Found in Text Mining only
Dermatitis Atopic	Atopic dermatitis	Pubtator	27711196	Stimulate	★☆☆☆☆ Found in Text Mining only
Dermatitis, Atopic	Dermatitis	BEFREE	27498343, 31629805, 31707051		★☆☆☆☆ Found in Text Mining only
Dermatologic disorders	Dermatologic Disorders	BEFREE	22992805		★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	28242305, 29291386, 29484371, 30763329		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	28242305, 29291386, 29484371, 30763329, 31564534		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	37344447	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 1	Diabetes mellitus, type 1	Pubtator	36303457	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	27036040	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	23015358, 28292965		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	22522613, 28842216, 29228585		★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathies	Diabetic neuropathy	Pubtator	29481660	Associate	★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathy	Diabetic Nephropathy	BEFREE	19017763, 27333885, 28554737, 29481660, 30763329		★☆☆☆☆ Found in Text Mining only
Diabetic Neuralgia	Diabetic Neuralgia	BEFREE	30830585		★☆☆☆☆ Found in Text Mining only
Diffuse Large B-Cell Lymphoma	Diffuse Lymphoma	BEFREE	15044251, 17460466, 19704259, 20331734, 22116549, 27268052, 30209121, 31471540		★☆☆☆☆ Found in Text Mining only
Diffuse Large B-Cell Lymphoma	Diffuse Lymphoma	CGI_DG			★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down Syndrome	BEFREE	17068151, 18805579, 18927438, 19120350, 19641190, 19965641, 21502425, 22441210, 28461505		★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down Syndrome	LHGDN	17068151, 18755984, 18927438		★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down syndrome	Pubtator	19120350, 25105841, 28461505, 38513239	Associate	★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dyslipidemias	Dyslipidemias	BEFREE	31740386		★☆☆☆☆ Found in Text Mining only
Early infantile epileptic encephalopathy with suppression bursts	Epileptic Encephalopathy	BEFREE	26437571		★☆☆☆☆ Found in Text Mining only
Eczema	Eczema	BEFREE	27498343, 31629805, 31707051		★☆☆☆☆ Found in Text Mining only
Elliptocytosis 1	Hereditary elliptocytosis	Pubtator	27734802	Associate	★☆☆☆☆ Found in Text Mining only
End Stage Liver Disease	End Stage Liver Disease	BEFREE	26385087		★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	19154413, 35242202	Associate	★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	Pubtator	35279667	Associate	★☆☆☆☆ Found in Text Mining only
Eosinophilia	Eosinophilia	BEFREE	12708906, 23400675, 26017288, 27134074		★☆☆☆☆ Found in Text Mining only
Eosinophilia	Eosinophilia	Pubtator	12708906, 21264914, 21705501, 23997080, 26017288, 32238402, 33990705, 37454239, 38563187, 40474715	Associate	★☆☆☆☆ Found in Text Mining only
Eosinophilia, Tropical	Eosinophilia	BEFREE	31744552		★☆☆☆☆ Found in Text Mining only
Ependymoma	Ependymoma	BEFREE	20336349		★☆☆☆☆ Found in Text Mining only
Episodic Kinesigenic Dyskinesia 1	Episodic Kinesigenic Dyskinesia	BEFREE	29513074		★☆☆☆☆ Found in Text Mining only
Epithelial ovarian cancer	Ovarian cancer	BEFREE	27825119		★☆☆☆☆ Found in Text Mining only
Erythrocytosis familial, 1	Erythrocytosis	BEFREE	10498627, 17488692, 18484677, 27106701, 27389715, 9923445		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Erythrocytosis familial, 1	Erythrocytosis	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Erythrocytosis familial, 1	Erythrocytosis	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Erythroid hyperplasia	Erythroid hyperplasia	BEFREE	20472853		★☆☆☆☆ Found in Text Mining only
Erythromelalgia	Erythromelalgia	BEFREE	25116182		★☆☆☆☆ Found in Text Mining only
Esophageal and Gastric Varices	Esophageal and gastric varices	Pubtator	25339837	Associate	★☆☆☆☆ Found in Text Mining only
Esophageal carcinoma	Esophageal Carcinoma	BEFREE	29197940, 30774375		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophagus Neoplasm	BEFREE	30774375		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophageal neoplasm	Pubtator	32536038, 34036398	Associate	★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	33330321	Associate	★☆☆☆☆ Found in Text Mining only
Esophageal Varices	Esophageal varix	HPO_DG			★☆☆☆☆ Found in Text Mining only
Essential thrombocythemia	Thrombocythemia	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Essential Tremor	Essential tremor	Pubtator	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	Associate	★☆☆☆☆ Found in Text Mining only
Familial erythrocytosis	Erythrocytosis	BEFREE	10498627, 17488692, 27106701, 9923445		★☆☆☆☆ Found in Text Mining only
Familial Mediterranean Fever	Familial mediterranean fever	Pubtator	26123310	Associate	★☆☆☆☆ Found in Text Mining only
Familial thrombocytosis	Thrombocytosis	BEFREE	19843380		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial thrombocytosis	Thrombocytosis	ORPHANET_DG	22397670		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial thrombocytosis	Thrombocytosis	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Fanconi Anemia	Fanconi Anemia	BEFREE	21330473		★☆☆☆☆ Found in Text Mining only
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)	Anemia	BEFREE	21330473		★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty Liver	BEFREE	28100771		★☆☆☆☆ Found in Text Mining only
Fatty Liver Disease	Fatty Liver	BEFREE	29735799		★☆☆☆☆ Found in Text Mining only
Fibrosis, Liver	Liver Fibrosis	BEFREE	26385087, 30568253		★☆☆☆☆ Found in Text Mining only
Gallbladder Carcinoma	Gallbladder cancer	BEFREE	28337870		★☆☆☆☆ Found in Text Mining only
Gastric lymphoma	Gastric lymphoma	BEFREE	27106701		★☆☆☆☆ Found in Text Mining only
Gastrointestinal Diseases	Gastrointestinal disease	Pubtator	21239780, 35439303	Associate	★☆☆☆☆ Found in Text Mining only
Gastrointestinal Hemorrhage	Gastrointestinal hemorrhage	Pubtator	17249502	Associate	★☆☆☆☆ Found in Text Mining only
Giant Cell Arteritis	Giant cell arteritis	Pubtator	35045965	Associate	★☆☆☆☆ Found in Text Mining only
Gilles de la Tourette syndrome	Tourette Syndrome	BEFREE	31231976		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	17143473, 25553095, 26283544, 31452174, 32060308	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	20589525, 23838182, 30431125, 31806641		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	20589525, 23262510, 23838182, 25162558, 30431125, 31806641		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	LHGDN	18829483		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	21906308, 23907460, 33788424, 34369006	Associate	★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	23838182, 28677777, 31497212		★☆☆☆☆ Found in Text Mining only
Glomerulosclerosis Focal Segmental	Focal segmental glomerulosclerosis	Pubtator	25366011	Associate	★☆☆☆☆ Found in Text Mining only
Glycogen Storage Disease Type VI	Glycogen Storage Disease	BEFREE	19564637		★☆☆☆☆ Found in Text Mining only
Graft-vs-Host Disease	Graft-Vs-Host Disease	BEFREE	25977345, 28077684, 29382747, 29691471, 30242073, 30453910		★☆☆☆☆ Found in Text Mining only
Growth Hormone-Secreting Pituitary Adenoma	Somatotroph Adenoma	BEFREE	22364960		★☆☆☆☆ Found in Text Mining only
Hamartoma Syndrome, Multiple	Hamartoma	BEFREE	24382939		★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	20022263, 23116358	Associate	★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart Diseases	BEFREE	30132020		★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	30378117		★☆☆☆☆ Found in Text Mining only
Heart Failure	Heart failure	Pubtator	34210413	Associate	★☆☆☆☆ Found in Text Mining only
Heart valve disease	Cardiac valvular disease	CTD_human_DG	21335463		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hemangioma	Hemangioma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hematologic Diseases	Hematologic disease	Pubtator	16537803, 16946305, 18166784, 21235771, 21766300, 25781882, 37146604	Associate	★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic Neoplasms	BEFREE	15805263, 18538168, 18594780, 19136931, 19216843, 19338077, 19387466, 20214447, 20594592, 21091042, 21761323, 22319590, 22875628, 23406773, 23676499, 23807288, 23926298, 24268771, 24404189, 25347426, 25520049, 25696868, 25824690, 25833723, 26175407, 27043212, 27134074, 28501635, 29262601, 30056970, 31063994, 31299252		★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic neoplasm	Pubtator	15805263, 17976517, 19136931, 19447617, 21235771, 22875628, 23592968, 24404189, 27029346, 27389715, 28422729, 30401948, 30475948, 30577887, 31870101, 32911987, 34239136, 34505882, 37290440, 38225345, 39657124	Associate	★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic Neoplasms	CGI_DG			★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic Neoplasms	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hematological Disease	Hematological Disease	BEFREE	16247455, 16537803, 17068151, 18538168, 25162558, 26692333, 29379470		★☆☆☆☆ Found in Text Mining only
Hematopoietic Neoplasms	Hematopoietic Neoplasms	BEFREE	17077140, 17208428, 18618714, 19263296, 26153565, 28611190, 29025601, 30401948		★☆☆☆☆ Found in Text Mining only
Hemoglobin C Disease	Hemoglobin c disease	Pubtator	36451015	Associate	★☆☆☆☆ Found in Text Mining only
Hemorrhage	Hemorrhage	Pubtator	15858187, 20104275, 35439303, 36397023, 37584526, 39545588	Associate	★☆☆☆☆ Found in Text Mining only
Heparin Cofactor II Deficiency	Heparin cofactor 2 deficiency	Pubtator	29022213	Associate	★☆☆☆☆ Found in Text Mining only
Hepatic Vein Thrombosis	Hepatic Vein Thrombosis	BEFREE	16762626, 16827884, 17133457, 18600100, 19308656, 21264914, 21364191, 21761323, 22467227, 23980667, 25698270, 26238013, 26626649, 28710306		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatic Vein Thrombosis	Hepatic Vein Thrombosis	CTD_human_DG	16762626, 19293426		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatic Vein Thrombosis	Hepatic Vein Thrombosis	ORPHANET_DG	26557140		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatic Veno Occlusive Disease	Hepatic veno occlusive disease	Pubtator	30861111	Associate	★☆☆☆☆ Found in Text Mining only
Hepatoblastoma	Hepatoblastoma	Pubtator	38071211	Associate	★☆☆☆☆ Found in Text Mining only
Hepatomegaly	Hepatomegaly	Pubtator	25573593	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary Breast and Ovarian Cancer Syndrome	Hereditary breast and ovarian cancer syndrome	Pubtator	33660353, 39377506	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary spherocytosis	Hereditary Spherocytosis	BEFREE	23588264		★☆☆☆☆ Found in Text Mining only
Histiocytosis, Langerhans-Cell	Histiocytosis	BEFREE	29107666		★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin Disease	LHGDN	12478664, 17652621		★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin Disease	BEFREE	16321863, 17460466, 17652621, 21156283, 22869151, 24610827, 27106701, 29902298, 31366526, 31707975, 9926251		★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin disease	Pubtator	17652621, 19136931, 20628145, 21156283, 27861596, 29650799, 29902298, 30347596, 31707975	Associate	★☆☆☆☆ Found in Text Mining only
Hypereosinophilia	Hypereosinophilia	BEFREE	21264914, 26017288		★☆☆☆☆ Found in Text Mining only
Hypereosinophilic Syndrome	Hypereosinophilic syndrome	Pubtator	15920007, 18024388, 37565871, 38563187	Associate	★☆☆☆☆ Found in Text Mining only
Hypereosinophilic syndrome	Hypereosinophilic Syndrome	BEFREE	18024388		★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	BEFREE	16257269		★☆☆☆☆ Found in Text Mining only
Hyperhomocysteinemia	Hyperhomocysteinemia	BEFREE	22684349		★☆☆☆☆ Found in Text Mining only
Hyperinsulinism	Hyperinsulinism	BEFREE	11596667		★☆☆☆☆ Found in Text Mining only
Hyperlipidemia	Hyperlipidemia	BEFREE	29210652, 31740386		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperparathyroidism, Primary	Hyperparathyroidism	BEFREE	25209606		★☆☆☆☆ Found in Text Mining only
Hyperplasia	Hyperplasia	Pubtator	19734476	Associate	★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	33639674, 38238303	Associate	★☆☆☆☆ Found in Text Mining only
Hypertension Pulmonary	Pulmonary hypertension	Pubtator	34433800	Associate	★☆☆☆☆ Found in Text Mining only
Hypertension, Renovascular	Hypertension	BEFREE	29656438		★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	16418333, 25807961, 29656438, 30904607		★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hyperuricemia	Hyperuricemia	BEFREE	23442673		★☆☆☆☆ Found in Text Mining only
Hyperuricemia	Hyperuricemia	Pubtator	34716863	Associate	★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	24860972, 29693186, 32945388	Associate	★☆☆☆☆ Found in Text Mining only
Idiopathic Hypereosinophilic Syndrome	Hypereosinophilic Syndrome	BEFREE	15860661, 18024388		★☆☆☆☆ Found in Text Mining only
Idiopathic pulmonary arterial hypertension	Pulmonary arterial hypertension	BEFREE	21425123, 27468853		★☆☆☆☆ Found in Text Mining only
Idiopathic pulmonary arterial hypertension	Pulmonary arterial hypertension	HPO_DG			★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Idiopathic pulmonary fibrosis	Pubtator	21750318	Associate	★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	29409529, 29440315		★☆☆☆☆ Found in Text Mining only
Immune System Diseases	Immune system disease	Pubtator	16174768	Associate	★☆☆☆☆ Found in Text Mining only
Immune thrombocytopenic purpura	Immune Thrombocytopenic Purpura	BEFREE	31689837		★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	27748739, 30552029		★☆☆☆☆ Found in Text Mining only
Infertility	Infertility	Pubtator	36303457	Associate	★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	19068216, 19817673, 20627814, 21088407, 25105947, 27458846, 27664279, 28139755, 31069840		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	LHGDN	19068216		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory bowel disease	Pubtator	21088407, 27664279, 35232999, 36643579, 40312552	Associate	★☆☆☆☆ Found in Text Mining only
Inflammatory dermatosis	Dermatitis	BEFREE	30622245		★☆☆☆☆ Found in Text Mining only
Insulin Resistance	Diabetes mellitus, type 2	Pubtator	31396538, 36238467	Associate	★☆☆☆☆ Found in Text Mining only
Intervertebral Disc Degeneration	Intervertebral disc disease	Pubtator	40426248	Associate	★☆☆☆☆ Found in Text Mining only
Intestinal Obstruction	Intestinal Obstruction	HPO_DG			★☆☆☆☆ Found in Text Mining only
Intracranial Hemorrhages	Intracranial hemorrhage	Pubtator	32846801	Associate	★☆☆☆☆ Found in Text Mining only
Intracranial Thrombosis	Intracranial thrombosis	Pubtator	17263783, 22469236, 25042466, 32846801, 34134639	Associate	★☆☆☆☆ Found in Text Mining only
Ischemic Attack Transient	Transient ischemic attack	Pubtator	34112633	Associate	★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	BEFREE	20616539, 28771727, 29130998, 29521586, 30552029, 30593877		★☆☆☆☆ Found in Text Mining only
Isolated somatotropin deficiency	Isolated Somatotropin Deficiency	BEFREE	21470284		★☆☆☆☆ Found in Text Mining only
Juvenile Myelomonocytic Leukemia	Myelomonocytic Leukemia	LHGDN	16079889		★☆☆☆☆ Found in Text Mining only
Juvenile Myelomonocytic Leukemia	Myelomonocytic Leukemia	BEFREE	16781478, 17351342, 20955399, 27157043, 27418650, 29596070, 30447300		★☆☆☆☆ Found in Text Mining only
Kidney Failure, Acute	Kidney Failure	BEFREE	30616891, 31084615, 31250048		★☆☆☆☆ Found in Text Mining only
Kidney Neoplasms	Kidney neoplasm	Pubtator	36246395	Associate	★☆☆☆☆ Found in Text Mining only
Laryngeal Neoplasms	Laryngeal neoplasm	Pubtator	31189744	Associate	★☆☆☆☆ Found in Text Mining only
Leiomyoma	Leiomyoma	Pubtator	35598777, 36771423	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	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	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
leukemia	Leukemia	BEFREE	10449913, 10845925, 11278610, 15578097, 17192390, 17229652, 18528425, 18805579, 19691103, 19783980, 20008300, 21326037, 21712540, 21789382, 22126101, 22801367, 23111066, 23432162, 23564444, 24761846, 25824741, 25951811, 26175414, 26456771, 27517565, 27686378, 28331226, 28542718, 29379470, 29907650, 29940115, 29970342, 30092288, 9360930, 9736611		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
leukemia	Leukemia	LHGDN	16557239, 17229652, 17851549		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
leukemia	Leukemia	CTD_human_DG	19636672		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Leukemia Myeloid	Myeloid leukemia	Pubtator	20670476, 22579713, 23720412, 9326218	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	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	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myelomonocytic Chronic	Myelomonocytic leukemia	Pubtator	15860661, 16037387, 16081687, 18055864, 19734476, 21828135, 22328940, 23632888, 30026572, 35236051, 35443559	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myelomonocytic Juvenile	Myelomonocytic leukemia	Pubtator	16037387, 20955399	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Neutrophilic Chronic	Neutrophilic leukemia	Pubtator	15860661, 17109389, 19652431, 31315541	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Promyelocytic Acute	Promyelocytic leukemia	Pubtator	36476114	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	16037387, 16247455, 16408098, 16598306, 16645202, 16831057, 17229652, 17363731, 18030353, 18160671, 18503828, 18616510, 19474426, 20001230, 20008300, 20153505, 20536350, 20809224, 21689158, 21786333, 21791467, 22431577, 22571758, 22612514, 23209034, 23564444, 24404189, 24668492, 24845343, 25687833, 26271725, 26382622, 28108507, 29239838, 29767839, 29940115, 29979407, 30521925, 30811597, 30994218, 31299252, 31670517		★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	CTD_human_DG	16247455		★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	UNIPROT_DG	16247455		★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	LHGDN	16563504, 17151700, 17443220, 17581610, 17625612, 18616510		★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	CLINVAR_DG	20339092, 20631743, 21120162, 21689158, 22041374, 22422826, 22571758, 22818858, 22829971, 23115274, 24404189		★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	CGI_DG			★☆☆☆☆ Found in Text Mining only
Leukemia, Myeloid, Chronic, Atypical, BCR-ABL Negative	Myeloid Leukemia	BEFREE	16091753, 18555525, 19387008, 26486739		★☆☆☆☆ Found in Text Mining only
Leukemia, Myeloid, Chronic, Atypical, BCR-ABL Negative	Myeloid Leukemia	LHGDN	16091753, 18555525		★☆☆☆☆ Found in Text Mining only
Leukemia, Myelomonocytic, Chronic	Myelomonocytic Leukemia	BEFREE	15860661, 16537803, 19734476, 21658659, 22328940, 25305095, 27157043, 29596070, 30026572, 30447300		★☆☆☆☆ Found in Text Mining only
Leukemia, Myelomonocytic, Chronic	Myelomonocytic Leukemia	LHGDN	17151700		★☆☆☆☆ Found in Text Mining only
Leukemia, T-Cell	T-cell leukemia	BEFREE	10845925, 17192390		★☆☆☆☆ Found in Text Mining only
Leukopenia	Leukopenia	BEFREE	10378893, 28790099		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	11326271, 25405790, 25420511, 25778631, 28100771, 28842424, 29268242, 29344203, 29486150, 29791864, 29957463, 29960031, 30096813, 30302825, 30453302, 30474880, 30779070, 31161238, 31393852, 31492006		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver cirrhosis	Pubtator	17249502, 33507708	Associate	★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver Cirrhosis	BEFREE	25698270, 26385087		★☆☆☆☆ Found in Text Mining only
Liver Diseases	Liver disease	Pubtator	22467227, 37872693	Associate	★☆☆☆☆ Found in Text Mining only
Liver Failure, Acute	Liver failure	BEFREE	26626649		★☆☆☆☆ Found in Text Mining only
Liver Failure, Acute	Liver failure	HPO_DG			★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	BEFREE	31161238		★☆☆☆☆ Found in Text Mining only
Liver Neoplasms	Liver neoplasm	Pubtator	34763315	Associate	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	24011025, 24833526, 27025877, 28639892, 31621555, 38225784	Associate	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	BEFREE	24954872		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	28177455, 29475858, 31790472, 40312552	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	GWASCAT_DG	27399966		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	29475858, 30043749, 31760539		★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	28639892, 34165442	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoid leukemia	Lymphoid leukemia	BEFREE	15578097, 17515895, 20594592, 30401948		★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	15860661, 18528425, 19136931, 20534395, 21156283, 21417828, 23991929, 26123794, 30132131, 30277103, 31833567, 7842246		★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	Pubtator	15860661, 19136931, 21156283, 23372669, 25326804, 26850007, 29984752, 30401948, 32238402, 32394008, 34533850, 36593595, 37316763, 37454239, 38513239, 40474715	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoma Follicular	Lymphoma	Pubtator	25894969, 37316763	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoma, Non-Hodgkin	Non-Hodgkin lymphoma	BEFREE	17976519		★☆☆☆☆ Found in Text Mining only
Lymphoma, T-Cell, Cutaneous	Lymphoma	BEFREE	23372669		★☆☆☆☆ Found in Text Mining only
Lymphoproliferative Disorders	Lymphoproliferative Disorder	BEFREE	18032883, 19816006, 31833567, 9736611		★☆☆☆☆ Found in Text Mining only
Lymphoproliferative Disorders	Lymphoproliferative syndrome	Pubtator	33660353, 36593595	Associate	★☆☆☆☆ Found in Text Mining only
Malabsorption Syndrome	Malabsorption Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malignant Bone Neoplasm	Malignant Bone Neoplasm	BEFREE	31015342		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	17639043, 18228120, 18587580, 18829531, 20639901, 21633165, 21785467, 24469394, 24764577, 24932998, 25059472, 25104439, 25310198, 26191195, 28440514, 29130936, 29383118, 29388151, 29436642, 29934528, 29951107, 29959151, 30526368, 30576871, 30930994, 31516339		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of esophagus	Esophagus Neoplasm	BEFREE	24953013, 30774375		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of gallbladder	Gallbladder cancer	BEFREE	28337870		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	BEFREE	29722127, 30389231		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	22712764, 26762740, 27025877, 28639892, 28883791, 29082853, 29746867, 30378152, 30634502, 31250048		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	23857432, 26360705, 27590741, 27825119, 29545902, 30785020		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	25220761, 25779676, 30530635, 30683944		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	14749471, 15256446, 17412813, 20233708, 20966544, 21971318, 23677069, 25243457, 29483142		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	CTD_human_DG	17199135		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	20548334, 23717640, 24151255, 24178240, 28186964, 28276310, 29717769, 30415442, 30854107, 31766099		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	27322953, 31289569		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	15358195, 16321863, 16598306, 16931578, 17068151, 17515895, 17976519, 18032883, 18045059, 18245540, 18297515, 19014541, 19167611, 19783980, 19887489, 19939582, 20109474, 21091042, 21160067, 21586612, 21722956, 21766300, 21823028, 22203487, 22209716, 22260501, 22820254, 22899991, 22995223, 23116358, 23372669, 23991929, 24268771, 24954872, 25288776, 25833723, 25969154, 26315497, 26762740, 26850007, 27075627, 27705908, 27774822, 27774824, 28011625, 28119526, 28186964, 28611190, 28752839, 28967906, 29082853, 29147602, 29187454, 29312610, 29467274, 29682172, 29907650, 30356255, 30530635, 30634502, 30730307, 31201357, 31234944, 31398915, 31491838, 31516339, 31819639, 9326218		★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	25127987, 31409905, 31817106		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	22121102, 25541970, 26795301, 28689994, 30706361		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	LHGDN	18271926, 18829531		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	21508364, 24764577		★☆☆☆☆ Found in Text Mining only
Marginal Zone B-Cell Lymphoma	B-Cell Lymphoma	BEFREE	21508404		★☆☆☆☆ Found in Text Mining only
Mastocytosis	Mastocytosis	BEFREE	20153505, 20191332		★☆☆☆☆ Found in Text Mining only
Mastocytosis Systemic	Systemic mastocytosis	Pubtator	15860661, 18165278, 19363219, 19747364, 22395523, 31164383, 37171742	Associate	★☆☆☆☆ Found in Text Mining only
Mastocytosis, Systemic	Mastocytosis	BEFREE	15860661, 17351342, 18165278, 19175693, 24441292		★☆☆☆☆ Found in Text Mining only
Mastocytosis, Systemic	Mastocytosis	LHGDN	18165278		★☆☆☆☆ Found in Text Mining only
Mediastinal (Thymic) Large B-Cell Lymphoma	B-Cell Lymphoma	BEFREE	15044251, 19704259, 20628145, 24610827, 31707975		★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	BEFREE	29168692		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	LHGDN	12777975		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	19536148, 21248298, 21268068, 22717603, 22899991, 23382536, 27903500, 28561041, 31103826, 31506076, 32316408, 36303457	Associate	★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	21248298, 22899991, 23382536, 28466543, 28570563, 29917141		★☆☆☆☆ Found in Text Mining only
Melanoma Cutaneous Malignant	Melanoma	Pubtator	29641532, 30236595	Associate	★☆☆☆☆ Found in Text Mining only
Melanoma Cutaneous Malignant	Melanoma	Pubtator	32234492	Inhibit	★☆☆☆☆ Found in Text Mining only
Memory dysfunction	Memory Disorders	BEFREE	30574980		★☆☆☆☆ Found in Text Mining only
Meningioma	Meningioma	BEFREE	20336349		★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	BEFREE	31545956		★☆☆☆☆ Found in Text Mining only
Mesenteric Vascular Occlusion	Mesenteric Vascular Occlusion	CTD_human_DG	20434300		★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome	Metabolic syndrome	Pubtator	22185674	Associate	★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome X	Metabolic Syndrome	BEFREE	22185674		★☆☆☆☆ Found in Text Mining only
Miller Dieker syndrome	Miller Dieker Syndrome	BEFREE	17124067, 24399021, 25833723		★☆☆☆☆ Found in Text Mining only
Miscarriage	Miscarriage	CTD_human_DG	17989398		★☆☆☆☆ Found in Text Mining only
Miscarriage	Miscarriage	BEFREE	23065274, 23193966		★☆☆☆☆ Found in Text Mining only
Monoclonal B-Cell Lymphocytosis	B-Cell Lymphocytosis	BEFREE	25752595		★☆☆☆☆ Found in Text Mining only
Monoclonal Gammopathy of Undetermined Significance	Monoclonal Gammapathies	BEFREE	18032883		★☆☆☆☆ Found in Text Mining only
Monocytosis	Monocytosis	BEFREE	23018876, 25305095, 30447300		★☆☆☆☆ Found in Text Mining only
Mouth Neoplasms	Mouth neoplasm	Pubtator	32641093	Associate	★☆☆☆☆ Found in Text Mining only
Mucosa-Associated Lymphoid Tissue Lymphoma	Mucosa-associated lymphoma	BEFREE	21508404		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	17976519, 18032883, 19555670, 23885837, 27705908, 28645562, 29970342, 30145467, 31485665		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	17976519, 27581518, 31773675, 31868118, 32565533, 32628819, 34422217, 35642704	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	LHGDN	19129688		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	21135020		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Multiple Sclerosis	Multiple sclerosis	Pubtator	32241259	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myelodysplasia	Myelodysplasia	BEFREE	21789382, 24325359, 30097215, 31741139		★☆☆☆☆ Found in Text Mining only
Myelodysplasia	Myelodysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	BEFREE	15860661, 16007902, 16037387, 16741247, 17124067, 18030353, 18336541, 18479730, 18769447, 19263296, 19474426, 19819015, 20153505, 20171768, 21523797, 21789382, 22760793, 23010802, 24325359, 24399021, 25645650, 25833723, 26382622, 26769228, 26874914, 28478401, 29596070, 30097215, 31612018, 31741139		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	LHGDN	16598312, 18223181		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myelodysplastic Syndrome with Isolated del(5q)	Myelodysplastic syndrome	BEFREE	19562618, 20485371		★☆☆☆☆ Found in Text Mining only
Myelodysplastic Syndromes	Myelodysplastic syndrome	Pubtator	16037387, 16081687, 16741247, 17643100, 17976519, 18030353, 19569249, 20485371, 20678218, 21523797, 22041374, 22571758, 23831921, 26382622, 28642303, 30401948, 30861111, 31804030, 32573691, 32781289, 34125889, 35396491, 37041565	Associate	★☆☆☆☆ Found in Text Mining only
Myelodysplastic-Myeloproliferative Diseases	Myelodysplastic-Myeloproliferative Diseases	BEFREE	18555525, 21502425, 23846442, 24507814		★☆☆☆☆ Found in Text Mining only
Myelofibrosis	Myelofibrosis	BEFREE	15837617, 15860661, 16029444, 16081687, 16225651, 16293880, 16373657, 16418333, 16456374, 16531268, 16532437, 16537803, 16563504, 16810614, 16871275, 16877349, 16901656, 16949922, 17018857, 17077140, 17124067, 17133099, 17133423, 17183644, 17249502, 17262192, 17266061, 17296581, 17587878, 17875526, 18048969, 18612778, 18769448, 18786436, 19277418, 19287382, 19387008, 19450878, 19573914, 19605821, 19616600, 20008195, 20008300, 20154217, 20215535, 20425385, 20425392, 20425436, 20631743, 20650526, 20843246, 20859081, 20888389, 21599574, 22035745, 22234689, 22280409, 22300941, 22333011, 22364960, 22463737, 22489043, 22583424, 22646772, 22793267, 22796437, 22818858, 23057517, 23130336, 23188718, 23307549, 23313046, 23382981, 23386690, 23406773, 23445613, 23514013, 23537216, 23918763, 24186132, 24337516, 24374145, 24458439, 24480985, 24766055, 24856675, 24888274, 24951423, 25189729, 25189730, 25193869, 25232060, 25441108, 25635755, 25696866, 25934766, 26123310, 26123794, 26153565, 26181658, 26228487, 26252788, 26297276, 26355403, 26648193, 26890983, 27013444, 27017614, 27479177, 27521308, 27634203, 27693531, 27740634, 27785927, 27789678, 27832516, 27913528, 27956543, 28089238, 28228106, 28260257, 28336242, 28395559, 28405618, 28441920, 28500170, 28602585, 28782256, 28934680, 29123956, 29143068, 29275119, 29480036, 29515114, 29522138, 29534592, 29565699, 29650953, 29713873, 29849942, 30025280, 30074114, 30097215, 30343328, 30408564, 30447300, 30498775, 30563936, 30811597, 30889303, 31135094, 31228096, 31511492, 31560729, 31571162, 31778911		★☆☆☆☆ Found in Text Mining only
Myelofibrosis	Myelofibrosis	ORPHANET_DG			★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia	Myeloid Leukemia	LHGDN	16828865		★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia	Myeloid Leukemia	BEFREE	19254349, 9326218		★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia, Chronic	Myeloid Leukemia	LHGDN	15676212		★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia, Chronic	Myeloid Leukemia	BEFREE	16001431, 16007127, 16037387, 16645202, 16818614, 17090651, 17124067, 18479730, 18503828, 19254349, 19641523, 20041451, 20538800, 20809224, 21722956, 21950422, 22234689, 22248740, 22623184, 22733019, 22847163, 23446755, 23613267, 23807288, 23846442, 24293258, 24504330, 24813920, 25860380, 26487696, 26754830, 27111338, 27282563, 28602946, 29423056, 29466766, 29565710, 29951914, 31123683, 31366526, 9326218		★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia, Chronic	Myeloid Leukemia	CGI_DG			★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia, Chronic	Myeloid Leukemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Myeloproliferative disease	Myeloproliferative disorder	BEFREE	15781101, 15858187, 15860661, 16007127, 16081684, 16081687, 16197445, 16225651, 16230371, 16271512, 16285006, 16293880, 16330446, 16365288, 16373657, 16408098, 16426581, 16456374, 16537803, 16598306, 16627272, 16632470, 16670266, 16675707, 16675710, 16810610, 16810614, 16825505, 16831057, 16873677, 16879967, 16885051, 16901656, 16916724, 16946305, 16998940, 17006961, 17013813, 17022694, 17045648, 17077140, 17124067, 17133099, 17145859, 17178722, 17194663, 17230231, 17249502, 17266061, 17307838, 17317861, 17363731, 17379742, 17384217, 17384221, 17533047, 17541402, 17564968, 17687555, 17698191, 17703302, 17721432, 17906464, 17934351, 17976519, 17984312, 17984313, 18003935, 18032883, 18032973, 18054634, 18055983, 18059484, 18158285, 18160670, 18165278, 18216297, 18245540, 18245948, 18291658, 18294066, 18300758, 18328792, 18336541, 18394554, 18464114, 18515659, 18528425, 18528646, 18538168, 18566540, 18600099, 18618714, 18661406, 18671703, 18723264, 18754026, 18754034, 18757400, 18769447, 18769448, 18781401, 18790796, 18805579, 18809980, 18815196, 18820995, 18843287, 18948049, 19004076, 19016916, 19046316, 19118011, 19135773, 19174256, 19216843, 19225136, 19229050, 19254349, 19273837, 19277418, 19287382, 19287384, 19287385, 19290934, 19293402, 19329339, 19338077, 19387008, 19387466, 19466975, 19474426, 19478480, 19482442, 19562618, 19625083, 19638629, 19643476, 19693645, 19734476, 19747364, 19778861, 19789961, 19797525, 19815050, 19816006, 19847198, 19847199, 19877761, 19939582, 19942343, 19959796, 20008249, 20008300, 20028972, 20061559, 20087176, 20109474, 20133898, 20153505, 20154217, 20191331, 20191332, 20205617, 20214447, 20304805, 20331734, 20359349, 20404132, 20422415, 20425335, 20425393, 20428194, 20434300, 20445018, 20472827, 20472853, 20489053, 20507304, 20528738, 20551270, 20560681, 20587663, 20629097, 20667821, 20816582, 20870899, 20888389, 20966544, 21042281, 21082983, 21091042, 21118380, 21118387, 21151131, 21173100, 21198321, 21212285, 21224469, 21281225, 21303356, 21326037, 21364191, 21376394, 21431636, 21435189, 21474922, 21497288, 21502425, 21521147, 21531978, 21558064, 21562050, 21599574, 21599579, 21646683, 21653937, 21674578, 21722956, 21723416, 21742423, 21752468, 21761323, 21766300, 21785463, 21786333, 21789226, 21791467, 21823028, 21883966, 21933004, 22001278, 22006129, 22018274, 22041060, 22051730, 22076943, 22088920, 22132729, 22203033, 22203487, 22227528, 22234689, 22251709, 22271575, 22304488, 22333011, 22339244, 22385957, 22408262, 22467227, 22469236, 22511494, 22513837, 22565617, 22579713, 22641564, 22642932, 22820988, 22847163, 22869151, 22875628, 22960131, 22991927, 22995223, 23009937, 23010802, 23023734, 23054641, 23057517, 23111066, 23111067, 23130336, 23188718, 23209034, 23233634, 23233635, 23300178, 23300995, 23301855, 23313046, 23340138, 23349688, 23382981, 23386690, 23391844, 23406773, 23420150, 23430670, 23445613, 23445878, 23469088, 23535062, 23537216, 23558526, 23588264, 23590807, 23614569, 23617802, 23670175, 23681871, 23748344, 23750118, 23807288, 23845539, 23846442, 23860450, 23863170, 23863177, 23863895, 23865766, 23885837, 23916380, 23926298, 23978506, 23986553, 24066127, 24068492, 24146202, 24211109, 24251790, 24258498, 24265174, 24325359, 24337516, 24354892, 24371211, 24381227, 24404189, 24463275, 24475114, 24504330, 24511651, 24627006, 24677207, 24729973, 24740812, 24786775, 24903629, 24963593, 25015051, 25015634, 25023898, 25068507, 25115511, 25143485, 25259626, 25288776, 25323779, 25339837, 25345590, 25479752, 25482455, 25526816, 25527813, 25536606, 25538080, 25559461, 25572172, 25666256, 25719551, 25746303, 25824690, 25824741, 25849990, 25860380, 25870379, 25882525, 25912019, 25951317, 25959311, 25976465, 26071474, 26151455, 26175407, 26182311, 26202837, 26235214, 26355403, 26370832, 26423830, 26460248, 26486738, 26596525, 26617890, 26692333, 26754830, 26755644, 26843622, 26852656, 26931113, 26935241, 27018326, 27061303, 27106701, 27124925, 27134074, 27177927, 27198504, 27258562, 27365426, 27389715, 27423004, 27427771, 27447873, 27468853, 27662324, 27693531, 27716741, 27748177, 27784744, 27855276, 27875935, 27909216, 27913528, 27997717, 27998978, 28008177, 28028027, 28038963, 28119526, 28126623, 28161773, 28228434, 28251679, 28340692, 28365441, 28390197, 28411309, 28484264, 28500170, 28501635, 28513614, 28554272, 28556926, 28589084, 28609766, 28625126, 28668884, 28673391, 28673392, 28685257, 28685840, 28744014, 28778261, 28796790, 28819248, 28831147, 28903325, 28934680, 28990497, 29042365, 29047144, 29066347, 29150911, 29202466, 29214759, 29228564, 29306106, 29327708, 29355841, 29379470, 29464483, 29515770, 29516749, 29589523, 29627078, 29641446, 29650953, 29651917, 29656438, 29717448, 29736709, 29741776, 29767839, 29842959, 29867515, 29928488, 30025280, 30056580, 30056970, 30074114, 30092288, 30132131, 30295334, 30301673, 30327655, 30463063, 30514740, 30516848, 30571460, 30594750, 30617940, 30707971, 30717771, 30811597, 30828850, 30829649, 30981578, 30987952, 30994218, 31063994, 31071164, 31106152, 31123683, 31135094, 31229378, 31248375, 31255914, 31289316, 31299252, 31369569, 31377025, 31446640, 31449697, 31511238, 31571131, 31670517, 31697804, 31697834, 31704857, 31725895, 31746601, 31750881, 31788449, 31805692, 31837568		★☆☆☆☆ Found in Text Mining only
Myeloproliferative disease	Myeloproliferative disorder	LHGDN	15781101, 15858187, 16084028, 16204151, 16502590, 16886215, 17045648, 17057021, 17263783, 17315023, 17379742, 17389152, 17440677, 17443220, 17460706, 17488346, 17643100, 17727557, 17761748, 17984312, 18055011, 18160670, 18291525, 18327418, 18450736, 18503583, 18521518, 18575049, 18612778, 18715806, 18723264, 18769447, 18790796, 18843287, 19046316, 19176988		★☆☆☆☆ Found in Text Mining only
Myeloproliferative disease	Myeloproliferative disorder	CLINVAR_DG	15781101, 17267906, 19287384, 20585391		★☆☆☆☆ Found in Text Mining only
Myeloproliferative disease	Myeloproliferative disorder	GWASDB_DG	19287384		★☆☆☆☆ Found in Text Mining only
Myeloproliferative disease	Myeloproliferative disorder	GWASCAT_DG	19287384, 25849990		★☆☆☆☆ Found in Text Mining only
Myeloproliferative disease	Myeloproliferative disorder	CTD_human_DG	22087750, 29047144		★☆☆☆☆ Found in Text Mining only
Myeloproliferative disease	Myeloproliferative disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Myeloproliferative Disorder Chronic with Eosinophilia	Myeloproliferative disorder	Pubtator	37369465	Associate	★☆☆☆☆ Found in Text Mining only
Myeloproliferative Disorders	Myeloproliferative disorder	Pubtator	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	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myeloproliferative Neoplasm, Unclassifiable	Myeloproliferative Neoplasm	BEFREE	23781511, 27134074		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	29392420, 29992755, 30861111, 31497235		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial infarction	Pubtator	30861111	Associate	★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial infarction	Pubtator	35537778	Stimulate	★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	HPO_DG			★☆☆☆☆ Found in Text Mining only
Myocardial Ischemia	Myocardial Ischemia	CTD_human_DG	15746188, 16214533		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myocardial Ischemia	Myocardial Ischemia	BEFREE	23116358, 29039526, 29393473, 29441020		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myocarditis	Myocarditis	BEFREE	28963014		★☆☆☆☆ Found in Text Mining only
Myotonia Fluctuans (disorder)	Myotonia Fluctuans	BEFREE	23188718		★☆☆☆☆ Found in Text Mining only
Nasal Polyps	Nasal polyp	Pubtator	34356683	Associate	★☆☆☆☆ Found in Text Mining only
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	BEFREE	23708661, 29749443, 30123088, 30668347, 30720169, 31464090, 31737947		★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Carcinoma	Nasopharyngeal carcinoma	Pubtator	30720169, 34165442, 38006726, 38164170, 39742726	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	12118093, 12370803, 12708906, 15256446, 16879967, 17976519, 18032883, 18045059, 18245540, 18555525, 18805579, 18829483, 19074595, 19167611, 19491085, 19544471, 19562618, 19704259, 19887489, 20042850, 20061559, 20205617, 20336349, 20538800, 20589525, 20615970, 21091042, 21431636, 21508364, 21705501, 21712540, 21818116, 21828134, 22028900, 22051730, 22271575, 23300178, 23300995, 23372669, 23420150, 23607255, 24008317, 24178240, 24268771, 24325359, 24610827, 24667060, 24764577, 24913195, 25162558, 25220761, 25260694, 25263564, 25724470, 25869210, 25882525, 25969154, 26084564, 26149212, 26282165, 26397387, 26431835, 26850007, 26980025, 27003603, 27041564, 27053336, 27075627, 27134074, 27365426, 28038963, 28100771, 28112370, 28734796, 28752839, 28814433, 28859967, 28901507, 29025601, 29483142, 29515107, 29627078, 29682172, 29736311, 29752723, 29917141, 29928488, 30026572, 30132131, 30236595, 30327655, 30401948, 30447300, 30530635, 30618745, 30664175, 30862724, 30936718, 30996253, 31255914, 31298355, 31398915, 31405846, 31492006, 31548294		★☆☆☆☆ Found in Text Mining only
Nephroblastoma	Nephroblastoma	BEFREE	27167495		★☆☆☆☆ Found in Text Mining only
Nephrotic Syndrome	Nephrotic syndrome	Pubtator	25366011	Associate	★☆☆☆☆ Found in Text Mining only
Neural Tube Defects	Neural tube defect	Pubtator	10460607, 17976519, 21789382, 38563187	Associate	★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	22406995		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	39356934	Associate	★☆☆☆☆ Found in Text Mining only
Neurofibromatosis 1	Neurofibromatosis	BEFREE	18623221		★☆☆☆☆ Found in Text Mining only
Neutropenia	Neutropenia	BEFREE	10378893, 28790099		★☆☆☆☆ Found in Text Mining only
Neutropenia	Neutropenia	Pubtator	10378893	Associate	★☆☆☆☆ Found in Text Mining only
Neutropenia Severe Congenital Autosomal Recessive 3	Severe congenital neutropenia	Pubtator	10378893, 8541539	Associate	★☆☆☆☆ Found in Text Mining only
Neutrophilia (disorder)	Neutrophilia	BEFREE	17183644, 18160670		★☆☆☆☆ Found in Text Mining only
Niemann-Pick Disease, Type C	Niemann-Pick Disease	BEFREE	30668347		★☆☆☆☆ Found in Text Mining only
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Classical Hodgkin lymphoma	BEFREE	20628145		★☆☆☆☆ Found in Text Mining only
Nodular Sclerosis Classical Hodgkin Lymphoma	Classical Hodgkin lymphoma	BEFREE	31313387		★☆☆☆☆ Found in Text Mining only
Non-alcoholic Fatty Liver Disease	Non-Alcoholic Fatty Liver Disease	CTD_human_DG	28100771		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Non-alcoholic Fatty Liver Disease	Non-Alcoholic Fatty Liver Disease	BEFREE	30389231, 31406138, 31491605		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	21333372, 22319590, 26843613, 27025877, 27180268, 27323056, 28750889, 29074425, 29082853, 29345289, 29467274, 29681434, 30001772, 30483119, 31253869, 31731888		★☆☆☆☆ Found in Text Mining only
Nonalcoholic Steatohepatitis	Non-alcoholic Fatty Liver Disease	CTD_human_DG	28100771		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Obesity	Obesity	BEFREE	24932998, 28094778, 30383868		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	29737494, 33019728	Associate	★☆☆☆☆ Found in Text Mining only
Opitz GBBB Syndrome, X-Linked	Opitz GBBB Syndrome, X-Linked	BEFREE	26437571		★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	30361290, 37788787	Associate	★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	BEFREE	28708884		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	25760445, 30936718, 31081055, 31371981		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	31081055, 35752008, 36814203	Associate	★☆☆☆☆ Found in Text Mining only
Osteosclerosis	Osteosclerosis	BEFREE	31793292		★☆☆☆☆ Found in Text Mining only
Ovarian Failure, Premature	Ovarian Failure	BEFREE	31152926		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ovarian neoplasm	Ovarian neoplasm	BEFREE	23857432, 27825119		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	19088723, 23857432, 27456942, 28734796, 29662190, 30622051, 31129149, 35269562, 37303048	Associate	★☆☆☆☆ Found in Text Mining only
Ovarian Serous Adenocarcinoma	Ovarian serous adenocarcinoma	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	25220761, 25779676, 30530635, 30683944		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasm	Pancreatic Neoplasm	LHGDN	17983808		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	23206899, 34623971, 36923225	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatitis	Pancreatitis	BEFREE	30840302		★☆☆☆☆ Found in Text Mining only
Pancytopenia	Pancytopenia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Panuveitis	Panuveitis	Pubtator	36593595	Associate	★☆☆☆☆ Found in Text Mining only
Paraganglioma	Paraganglioma	Pubtator	29534684	Associate	★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	31870101	Associate	★☆☆☆☆ Found in Text Mining only
Paroxysmal nocturnal hemoglobinuria	Paroxysmal nocturnal hemoglobinuria	BEFREE	31601527		★☆☆☆☆ Found in Text Mining only
Paroxysmal ventricular fibrillation	Paroxysmal ventricular fibrillation	Pubtator	35189054	Associate	★☆☆☆☆ Found in Text Mining only
Pericarditis	Pericarditis	Pubtator	37872693	Associate	★☆☆☆☆ Found in Text Mining only
Peripheral Arterial Disease	Peripheral arterial disease	Pubtator	25345590	Associate	★☆☆☆☆ Found in Text Mining only
Peripheral Arterial Diseases	Vascular Diseases	BEFREE	25345590, 27423004		★☆☆☆☆ Found in Text Mining only
Peripheral arterial stenosis	Peripheral arterial stenosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Peripheral Vascular Diseases	Vascular Diseases	BEFREE	25345590		★☆☆☆☆ Found in Text Mining only
Peritoneal Fibrosis	Peritoneal Fibrosis	BEFREE	30652956		★☆☆☆☆ Found in Text Mining only
Pervasive Development Disorder	Autism spectrum disorder	BEFREE	31838722		★☆☆☆☆ Found in Text Mining only
Petechiae	Petechiae	BEFREE	31689837		★☆☆☆☆ Found in Text Mining only
Pheochromocytoma	Pheochromocytoma	Pubtator	29534684	Associate	★☆☆☆☆ Found in Text Mining only
Polycystic Kidney Diseases	Polycystic kidney disease	BEFREE	29513074, 30872773		★☆☆☆☆ Found in Text Mining only
Polycystic Kidney, Autosomal Dominant	Polycystic kidney disease	BEFREE	30872773		★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic Ovary Syndrome	BEFREE	30463907		★☆☆☆☆ Found in Text Mining only
Polycythemia	Polycythemia	BEFREE	15837617, 16304380, 16670266, 17183644, 17317861, 17493421, 20587663, 21497288, 22234689, 22262773, 23403324, 29592977, 29867515, 31449697		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Polycythemia	Polycythemia	Pubtator	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	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Polycythemia	Polycythemia	LHGDN	17267906, 17389763, 18056003, 18297539, 18575865		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Polycythemia	Polycythemia	CTD_human_DG	17267906		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Polycythemia	Polycythemia	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Polycythemia primary familial and congenital	Polycythemia, primary familial and congenital	Pubtator	10498627, 17488692, 27389715	Associate	★☆☆☆☆ Found in Text Mining only
Polycythemia Vera	Polycythemia Vera	BEFREE	15781101, 15793561, 15837617, 15837627, 15860661, 15863514, 16007902, 16081684, 16081687, 16155011, 16197445, 16197451, 16210033, 16210034, 16210035, 16225651, 16239216, 16304380, 16321863, 16325696, 16365288, 16369984, 16373657, 16384930, 16537803, 16598306, 16603627, 16645202, 16684963, 16709929, 16728702, 16741247, 16757685, 16772604, 16781479, 16810609, 16810614, 16810620, 16827884, 16879013, 16912229, 16919893, 16924638, 16946305, 16949922, 16954506, 16956836, 16998940, 17059429, 17124067, 17131059, 17145859, 17178722, 17183644, 17194663, 17198871, 17204324, 17213018, 17222772, 17229651, 17256145, 17262192, 17266061, 17285276, 17313377, 17351342, 17369568, 17379069, 17379742, 17389763, 17412890, 17439832, 17452518, 17454193, 17488875, 17493421, 17525888, 17533047, 17551678, 17587878, 17597810, 17625606, 17703302, 17852451, 17873518, 17875526, 17906464, 17920755, 17961178, 17976517, 17976518, 17976519, 17979493, 17984312, 18006699, 18032973, 18033315, 18048969, 18055983, 18056003, 18059484, 18079739, 18084761, 18195094, 18220909, 18245540, 18297515, 18300758, 18336541, 18394554, 18394555, 18429051, 18464114, 18481066, 18482053, 18508790, 18528646, 18566540, 18575865, 18612778, 18616871, 18618714, 18623127, 18623221, 18632151, 18650451, 18657084, 18661406, 18717827, 18720212, 18723264, 18723266, 18754026, 18760472, 18768782, 18769448, 18779404, 18781401, 18815196, 18838204, 18843285, 18843287, 18854675, 18948049, 18972067, 19093167, 19118011, 19167611, 19175693, 19190168, 19225136, 19252176, 19287382, 19287384, 19290934, 19293426, 19295544, 19329339, 19387008, 19387466, 19393837, 19430293, 19466975, 19491085, 19497108, 19500139, 19503632, 19541820, 19559071, 19604233, 19608683, 19643476, 19657484, 19735488, 19772888, 19778861, 19789961, 19806146, 19815050, 19826111, 19843380, 19877761, 19939582, 19941738, 19941739, 19965650, 20008195, 20008249, 20013324, 20126644, 20160166, 20194236, 20197548, 20205617, 20214447, 20237866, 20331763, 20339092, 20410924, 20425335, 20425336, 20425436, 20428194, 20472827, 20472853, 20473593, 20499211, 20528738, 20551270, 20560681, 20587663, 20601445, 20631743, 20650526, 20660330, 20663870, 20805747, 20888389, 20966521, 21042281, 21062242, 21082983, 21198321, 21219298, 21220604, 21224469, 21239782, 21273266, 21331593, 21512135, 21599574, 21646683, 21660494, 21689158, 21761323, 21766300, 21790864, 21794206, 21821860, 21904853, 21950422, 21953826, 22001278, 22006129, 22028900, 22035745, 22065597, 22102708, 22106054, 22157736, 22234689, 22251709, 22262773, 22304488, 22331582, 22333011, 22411871, 22489043, 22511494, 22524513, 22583424, 22611155, 22642932, 22722988, 22784966, 22796437, 22818858, 22847163, 22864358, 22890406, 22898600, 23009934, 23023734, 23111067, 23116358, 23188718, 23209034, 23265742, 23343777, 23349688, 23382981, 23391844, 23430670, 23469088, 23542632, 23558526, 23588264, 23597578, 23807288, 23810504, 23863170, 23926298, 23986553, 24166817, 24258498, 24309205, 24354892, 24366362, 24404189, 24441292, 24463275, 24475114, 24482100, 24511651, 24535932, 24786775, 24811089, 24897074, 24903629, 24920845, 24951423, 25015052, 25023898, 25037629, 25040297, 25116092, 25116182, 25130523, 25162887, 25171702, 25189723, 25209606, 25259626, 25270596, 25278584, 25305205, 25527813, 25671252, 25719551, 25752595, 25849990, 25860380, 25912019, 25951317, 25968903, 26011312, 26163633, 26182311, 26228487, 26235214, 26275051, 26324368, 26355403, 26370613, 26402369, 26432562, 26450985, 26617890, 26626649, 26825737, 26832847, 26894383, 26961933, 26975864, 27039724, 27067982, 27198504, 27354406, 27410038, 27468853, 27697978, 27727468, 27784744, 27916398, 27919526, 27956534, 27991718, 28068330, 28193568, 28260027, 28277287, 28338652, 28365441, 28419183, 28456851, 28491265, 28533538, 28673391, 28700486, 28710306, 28732065, 28778261, 28956263, 29021147, 29047144, 29134817, 29143068, 29194068, 29217833, 29313725, 29426921, 29515238, 29516275, 29650801, 29656438, 29975001, 30025280, 30056970, 30155552, 30281843, 30463063, 30471421, 30502850, 30519338, 30558676, 30571852, 30601597, 30639623, 30717771, 30772299, 30843002, 30967632, 31101584, 31123683, 31228096, 31248375, 31399524, 31449697, 31525610, 31560729, 31571131, 31697804, 31704857, 31725895, 31741139		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Polycythemia Vera	Polycythemia Vera	UNIPROT_DG	15781101, 15793561, 15858187, 16603627		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Polycythemia Vera	Polycythemia Vera	CTD_human_DG	15781101, 15793561, 15858187, 16484586, 17267906, 18717827, 19154659, 19287382, 19287384, 20160369, 21942426		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Polycythemia Vera	Polycythemia Vera	LHGDN	15837627, 15863514, 15985214, 16373657, 16434490, 16603627, 16620973, 16728702, 16757685, 16772604, 16990780, 17190855, 17229651, 17266061, 17267906, 17379742, 17389763, 17476276, 17597810, 17611562, 17625603, 17625606, 17625610, 17873518, 17961178, 18056003, 18079740, 18081705, 18195094, 18321571, 18482053, 18519514, 18566540, 18657084, 18701405, 18720212, 18728027, 18754026, 19167611		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Polycythemia Vera	Polycythemia vera	Pubtator	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	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Polycythemia Vera	Polycythemia vera	Pubtator	16728702, 24897074	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Polycythemia Vera	Polycythemia Vera	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Polycythemia Vera	Polycythemia Vera	ORPHANET_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Polycythemia vera	Polycythemia Vera	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Portal Hypertension	Portal Hypertension	BEFREE	26385087, 31406138		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Portal Hypertension	Portal Hypertension	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Portal Vein Thrombosis	Portal Vein Thrombosis	BEFREE	17687555, 18328792, 19046316, 21364191, 21893442, 22684349, 25115839, 25698270		★☆☆☆☆ Found in Text Mining only
Portal Vein Thrombosis	Portal Vein Thrombosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pre B-cell acute lymphoblastic leukemia	B-cell Lymphoma	BEFREE	20594592		★☆☆☆☆ Found in Text Mining only
Precursor B-cell lymphoblastic leukemia	Lymphoblastic Leukemia	BEFREE	12708906, 18618714, 20018760, 20594592, 22271575, 22955920, 23452118, 23748007, 26175407, 26175414, 28340183, 29025600, 29907650, 31228652, 9326218		★☆☆☆☆ Found in Text Mining only
Precursor Cell Lymphoblastic Leukemia Lymphoma	Lymphoblastic Leukemia	BEFREE	16645202, 17068151, 17515895, 18618714, 18927438, 19965641, 20538800, 20594592, 20807819, 22733019, 25515960, 26216197, 27860260, 30401948, 9326218		★☆☆☆☆ Found in Text Mining only
Precursor Cell Lymphoblastic Leukemia Lymphoma	Lymphoblastic Leukemia	LHGDN	18927438		★☆☆☆☆ Found in Text Mining only
Precursor Cell Lymphoblastic Leukemia Lymphoma	Lymphoblastic Leukemia	CGI_DG			★☆☆☆☆ Found in Text Mining only
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma	Lymphoblastic Leukemia	BEFREE	10845925, 16357566, 22733019, 26456771, 29290986		★☆☆☆☆ Found in Text Mining only
Premature Menopause	Premature Menopause	BEFREE	31152926		★☆☆☆☆ Found in Text Mining only
Primary Myelofibrosis	Myelofibrosis	BEFREE	15781101, 15837617, 15860661, 15985544, 16029444, 16081687, 16197445, 16210033, 16210034, 16225651, 16293597, 16325696, 16373657, 16418333, 16456374, 16531268, 16532437, 16537803, 16563504, 16810609, 16810614, 16871275, 16877349, 16901656, 16912229, 16919893, 16949922, 16954506, 16959246, 16990584, 17018857, 17059429, 17077140, 17124067, 17133099, 17133423, 17145859, 17178722, 17183644, 17213018, 17222772, 17249502, 17255768, 17262192, 17285276, 17296581, 17313377, 17317861, 17351342, 17389152, 17488875, 17565328, 17587878, 17712047, 17721432, 17764814, 17875526, 17906464, 17920755, 17961178, 18006699, 18032973, 18033315, 18048969, 18220909, 18336541, 18429051, 18566540, 18612778, 18720212, 18723264, 18723266, 18754026, 18769448, 18779404, 18781401, 18786436, 18815196, 18850308, 19052980, 19074062, 19147089, 19167611, 19175693, 19277418, 19287382, 19287384, 19299003, 19387008, 19393837, 19450878, 19573914, 19605821, 19616600, 19643476, 19657484, 19713696, 19778861, 19847199, 19877761, 19941738, 19965680, 20008195, 20008249, 20008300, 20042850, 20113830, 20154217, 20160166, 20205617, 20214447, 20215535, 20331763, 20339092, 20354212, 20410924, 20425335, 20425392, 20425436, 20508616, 20560681, 20587663, 20631743, 20650526, 20843246, 20858855, 20859081, 20888389, 20966521, 21082983, 21220604, 21228032, 21599574, 21766300, 21892083, 21904853, 22006129, 22035745, 22234689, 22251709, 22262778, 22280409, 22300941, 22304488, 22333011, 22364960, 22463737, 22489043, 22583424, 22646772, 22793267, 22796437, 22818858, 23023734, 23057517, 23130336, 23188718, 23307549, 23313046, 23382981, 23386690, 23391844, 23406773, 23430670, 23445613, 23514013, 23537216, 23555782, 23644853, 23666689, 23918763, 23986553, 23994117, 24091831, 24186132, 24337516, 24374145, 24402162, 24441292, 24458439, 24475114, 24480985, 24553179, 24618731, 24766055, 24786775, 24811089, 24856675, 24888274, 24895336, 24951423, 24957246, 24986690, 25015052, 25037629, 25068507, 25116092, 25143485, 25171702, 25176567, 25189729, 25189730, 25193869, 25232060, 25259626, 25305205, 25441108, 25486952, 25527813, 25617626, 25635755, 25696866, 25719551, 25729726, 25746303, 25860380, 25934766, 26027540, 26123310, 26123794, 26153565, 26163633, 26181658, 26182311, 26228487, 26252788, 26275051, 26297276, 26355403, 26402369, 26423830, 26460258, 26573090, 26617890, 26625816, 26648193, 26697989, 26832847, 26890983, 26935576, 27013444, 27017614, 27061303, 27067982, 27185380, 27282563, 27402956, 27468853, 27479177, 27521308, 27634203, 27686171, 27693531, 27727468, 27740634, 27756071, 27785927, 27789678, 27832516, 27913528, 27956543, 28089238, 28228106, 28260027, 28260257, 28336242, 28340692, 28395559, 28405618, 28419183, 28422716, 28441920, 28500170, 28602585, 28728747, 28778261, 28782256, 28934680, 28948454, 29047144, 29107666, 29123956, 29143068, 29164670, 29256926, 29275119, 29368941, 29426921, 29480036, 29515114, 29522138, 29534592, 29565699, 29650801, 29650953, 29665657, 29713873, 29849942, 29971909, 30025280, 30039550, 30074114, 30080988, 30097215, 30343328, 30408564, 30447300, 30498775, 30502850, 30516848, 30558676, 30563936, 30811597, 30889303, 31135094, 31164383, 31228096, 31248375, 31369569, 31478923, 31511492, 31560729, 31571162, 31697803, 31704857, 31749302, 31778911		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Primary Myelofibrosis	Myelofibrosis	CTD_human_DG	15781101, 15858187, 16951397, 19154659, 19287382, 19287384, 19287385, 19636672, 21942426		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Primary Myelofibrosis	Myelofibrosis	LHGDN	15837627, 16434490, 16563504, 16572200, 16871275, 16877349, 16959246, 17077140, 17266061, 17296581, 17440677, 17476275, 17507998, 17625603, 17712047, 17961178, 18165278, 18200037, 18455791, 18566540, 18720212, 18754026		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Primary Myelofibrosis	Myelofibrosis	CLINVAR_DG	16293597, 24986690, 25157968		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Primary Myelofibrosis	Myelofibrosis	GENOMICS_ENGLAND_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Primary Myelofibrosis	Myelofibrosis	CGI_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Primary Myelofibrosis	Myelofibrosis	ORPHANET_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Primary Myelofibrosis	Myelofibrosis	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Primary myelofibrosis	Myelofibrosis	Orphanet			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Prostate carcinoma	Prostate cancer	BEFREE	14749471, 15256446, 17412813, 20233708, 20966544, 21971318, 23677069, 25243457, 29483142		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	10660600, 20966544, 22542949, 29641532, 37706641	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Neoplasms	Prostatic Neoplasms	CTD_human_DG	17199135		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pruritus	Pruritus	Pubtator	16225651, 16369984, 17379742, 17712047, 18257107, 19608683, 22081434, 24382738	Associate	★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	BEFREE	22482804, 27774581		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Psoriasis	Psoriasis	Pubtator	37893484	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pulmonary Arterial Hypertension	Pulmonary arterial hypertension	Pubtator	20808962, 21425123	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary arterial hypertension	Pulmonary arterial hypertension	BEFREE	27468853		★☆☆☆☆ Found in Text Mining only
Pulmonary arterial hypertension	Pulmonary arterial hypertension	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pulmonary edema of mountaineers	Pulmonary edema	Pubtator	24465776	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary Emphysema	Pulmonary Emphysema	BEFREE	30291890		★☆☆☆☆ Found in Text Mining only
Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	28478401, 29409529, 29440315, 30108215, 31610697		★☆☆☆☆ Found in Text Mining only
Purpura, Thrombotic Thrombocytopenic	Thrombotic thrombocytopenic purpura	BEFREE	29738371		★☆☆☆☆ Found in Text Mining only
Pyoderma Gangrenosum	Pyoderma Gangrenosum	BEFREE	22607468, 27711196		★☆☆☆☆ Found in Text Mining only
Pyoderma Gangrenosum	Pyoderma gangrenosum	Pubtator	27711196	Stimulate	★☆☆☆☆ Found in Text Mining only
Refractory anemia with ringed sideroblasts	Anemia With Ringed Sideroblasts	BEFREE	16741247, 17194663, 18166783, 19692701, 20194893, 22760793, 24507814		★☆☆☆☆ Found in Text Mining only
Refractory anemias	Anemia	LHGDN	18040685, 18059483, 18166783		★☆☆☆☆ Found in Text Mining only
Refractory anemias	Anemia	BEFREE	23594705		★☆☆☆☆ Found in Text Mining only
Renal Artery Stenosis	Renal Artery Stenosis	BEFREE	29656438		★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	LHGDN	17851851		★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	22899991, 28453463, 28765891, 30229899, 31540495		★☆☆☆☆ Found in Text Mining only
Retinal Vein Occlusion	Retinal Vein Occlusion	BEFREE	18054634		★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	Pubtator	33426053, 35369571	Associate	★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	20724918, 27723271, 28199814, 28292965, 28708884, 28829236, 29465363, 29687421, 30058112, 30219772, 30663869, 30767864, 30777075, 30784354, 30981578, 30999933, 31093950, 31181818, 31288716		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sagittal Sinus Thrombosis	Sagittal Sinus Thrombosis	BEFREE	28228434		★☆☆☆☆ Found in Text Mining only
Sagittal Sinus Thrombosis	Cerebral venous sinus thrombosis	Pubtator	28228434	Associate	★☆☆☆☆ Found in Text Mining only
Sarcoidosis	Sarcoidosis	Pubtator	33903979	Associate	★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	BEFREE	22779686		★☆☆☆☆ Found in Text Mining only
Scleroderma Localized	Scleroderma	Pubtator	37471168	Associate	★☆☆☆☆ Found in Text Mining only
Sclerosis	Sclerosis	Pubtator	19293426	Associate	★☆☆☆☆ Found in Text Mining only
secondary acute myeloid leukemia	Myeloid leukemia	BEFREE	18030353, 19474426, 29767839, 29979407		★☆☆☆☆ Found in Text Mining only
Septicemia	Septicemia	BEFREE	28006751, 29059148, 30870654		★☆☆☆☆ Found in Text Mining only
Severe Combined Immunodeficiency	Severe combined immunodeficiency disease	BEFREE	12197892		★☆☆☆☆ Found in Text Mining only
Sezary Syndrome	Sezary Syndrome	BEFREE	21818116		★☆☆☆☆ Found in Text Mining only
SHORT STATURE, IDIOPATHIC, X-LINKED	SHORT STATURE, IDIOPATHIC, X-LINKED	BEFREE	23729600		★☆☆☆☆ Found in Text Mining only
Sideroblastic anemia	Sideroblastic Anemia	LHGDN	16990759		★☆☆☆☆ Found in Text Mining only
Skin Diseases	Skin disease	Pubtator	22992805	Associate	★☆☆☆☆ Found in Text Mining only
Skin Erosion	Skin Erosion	BEFREE	28562338		★☆☆☆☆ Found in Text Mining only
Small cell carcinoma of lung	Lung carcinoma	BEFREE	19455144, 24158701		★☆☆☆☆ Found in Text Mining only
Small Cell Lung Carcinoma	Small cell lung carcinoma	Pubtator	20615970	Associate	★☆☆☆☆ Found in Text Mining only
Somatotropin deficiency	Somatotropin Deficiency	BEFREE	21470284		★☆☆☆☆ Found in Text Mining only
Splanchnic vein thrombosis	Splanchnic vein thrombosis	BEFREE	17133457, 17687555, 19478480, 21118380, 21435189, 21893442, 25015051, 25698270, 28609766		★☆☆☆☆ Found in Text Mining only
Splenomegaly	Splenomegaly	Pubtator	17440984, 17712047, 18166784, 19734476, 20650526, 21239780, 22081489, 22180010, 22251709, 24511651, 25913509, 26228487, 26625816, 26917989, 27293069, 27789678, 28456851, 29565699, 30431598, 32403407, 32669286, 36744404, 39545588	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Spondylitis Ankylosing	Ankylosing spondylitis	Pubtator	32388440	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	22090359, 30070696		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	25405520		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	25405202, 27367272, 31422218, 32641093, 36515567	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	19424608, 23670291, 25405202, 27977878, 29147602, 29353201, 30857539		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Steatohepatitis	Fatty Liver	BEFREE	26976243, 28100771, 29550470		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	20548334, 23717640, 24151255, 24178240, 26980034, 28186964, 28276310, 29717769, 30415442, 30854107, 31766099		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	22310976, 23717640, 24953013, 25055044, 25079317, 25588213, 30103640, 31351462, 31766099, 31884511, 31928530, 32086862, 33778841, 35361764, 35928970, 36632455	Associate	★☆☆☆☆ Found in Text Mining only
Stroke	Stroke	Pubtator	34112633, 36397023, 37512112	Associate	★☆☆☆☆ Found in Text Mining only
Subarachnoid Hemorrhage	Subarachnoid hemorrhage	BEFREE	24582788, 29102603, 29434719, 30225551		★☆☆☆☆ Found in Text Mining only
Supraventricular tachycardia	Supraventricular tachycardia	BEFREE	17687555, 18250227, 19273837, 19478480, 21364191, 21435189, 21893442, 23855810, 23916380, 25015051, 28483676		★☆☆☆☆ Found in Text Mining only
Systemic Scleroderma	Scleroderma	BEFREE	29147913		★☆☆☆☆ Found in Text Mining only
T-Cell Lymphoma	T-Cell Lymphoma	BEFREE	21091042, 29262599		★☆☆☆☆ Found in Text Mining only
Takayasu Arteritis	Takayasu Arteritis	BEFREE	28770707		★☆☆☆☆ Found in Text Mining only
Telangiectasia Hereditary Hemorrhagic	Hereditary hemorrhagic telangiectasia	Pubtator	37689549	Associate	★☆☆☆☆ Found in Text Mining only
Thalassemia Intermedia	Thalassemia	BEFREE	18781401		★☆☆☆☆ Found in Text Mining only
Thiamine Deficiency	Thiamine Deficiency	BEFREE	28109775		★☆☆☆☆ Found in Text Mining only
THROMBOCYTHEMIA 3	Thrombocythemia	UNIPROT_DG	16325696, 22397670		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
THROMBOCYTHEMIA 3	Thrombocythemia	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Thrombocythemia Essential	Essential thrombocythemia	Pubtator	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	Associate	★☆☆☆☆ Found in Text Mining only
Thrombocythemia Essential	Essential thrombocythemia	Pubtator	16728702	Stimulate	★☆☆☆☆ Found in Text Mining only
Thrombocythemia, Essential	Thrombocythemia	CTD_human_DG	15781101, 15858187, 16484586, 16896569, 19154659, 19636672, 20434300, 21942426		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thrombocythemia, Essential	Thrombocythemia	BEFREE	15837617, 16197445, 16197451, 16210033, 16210034, 16293597, 16325696, 16456375, 16461300, 16537803, 16645202, 16728702, 16741247, 16772604, 16810609, 16810614, 16849644, 16879015, 16885051, 16912229, 16916724, 16919893, 16929538, 16930139, 16949922, 16954506, 16956836, 17013813, 17023581, 17110452, 17124067, 17133099, 17145859, 17178722, 17183644, 17222772, 17229651, 17249502, 17262192, 17266061, 17285276, 17313377, 17317861, 17351342, 17369568, 17379742, 17389152, 17389763, 17426257, 17439832, 17488875, 17525888, 17577920, 17587878, 17687555, 17854308, 17873518, 17875526, 17906464, 17920754, 17961178, 18006699, 18033315, 18079739, 18084761, 18092959, 18166783, 18166784, 18220909, 18300758, 18429051, 18496561, 18566540, 18575865, 18600099, 18612778, 18616871, 18618714, 18623127, 18632151, 18720212, 18723264, 18723266, 18760472, 18768782, 18769448, 18786436, 18802948, 18805579, 18838204, 18849073, 19074062, 19093167, 19105233, 19118011, 19120370, 19167611, 19215672, 19222478, 19225136, 19235016, 19287382, 19299003, 19336736, 19393837, 19468275, 19478480, 19541820, 19559071, 19582452, 19616600, 19657484, 19691103, 19773543, 19778861, 19789961, 19816006, 19826111, 19843380, 19847198, 19941738, 19965650, 20008195, 20008249, 20104275, 20113830, 20151976, 20214447, 20214695, 20331763, 20362232, 20417872, 20425335, 20428194, 20434300, 20472827, 20473593, 20489053, 20551270, 20587663, 20615083, 20633767, 20670476, 20671051, 20681956, 20888389, 20966521, 21082983, 21219298, 21228032, 21331593, 21599574, 21744327, 21766300, 21821860, 21893442, 22001278, 22006129, 22035745, 22065597, 22106054, 22300941, 22304488, 22325365, 22331582, 22333011, 22364960, 22418850, 22511494, 22686448, 22722988, 22784966, 22796437, 22818858, 22847163, 22864358, 22884083, 22898600, 22911897, 23009934, 23023734, 23130336, 23188718, 23243278, 23349688, 23391844, 23469088, 23597578, 23613267, 23986553, 23994117, 24091831, 24252366, 24265174, 24301930, 24309205, 24354892, 24366362, 24402162, 24441292, 24463275, 24511651, 24535932, 24553179, 24582788, 24609764, 24618731, 24627549, 24753125, 24811089, 24889737, 24897074, 24903629, 24957246, 25012914, 25015052, 25037629, 25040297, 25042466, 25068507, 25116092, 25116182, 25130523, 25139350, 25143485, 25151955, 25171702, 25189723, 25259626, 25305205, 25527813, 25553276, 25611051, 25671252, 25719551, 25729726, 25746303, 25778631, 25849990, 25860380, 25934766, 25959795, 25968903, 25970554, 25976465, 26011312, 26028965, 26163633, 26182311, 26228487, 26275051, 26294037, 26355403, 26402369, 26423830, 26450985, 26489695, 26514532, 26523382, 26573090, 26617890, 26754830, 26832847, 26890983, 26945263, 26961933, 27013444, 27041108, 27061303, 27067977, 27067982, 27100794, 27111338, 27185380, 27271054, 27282563, 27402956, 27453224, 27468853, 27486987, 27531097, 27693531, 27716741, 27855276, 27875935, 27913528, 27919526, 27990849, 27991718, 28168700, 28211153, 28251679, 28260027, 28335073, 28340692, 28365441, 28397442, 28415571, 28419183, 28422716, 28589084, 28685840, 28778261, 28934680, 28948488, 29047144, 29194068, 29306106, 29313725, 29332224, 29411299, 29426921, 29464483, 29521158, 29542026, 29617043, 29656438, 29975001, 29979407, 30056970, 30074114, 30080988, 30281843, 30502850, 30558676, 30635218, 30925843, 30971335, 31049728, 31123683, 31248375, 31250082, 31272993, 31332222, 31428969, 31449697, 31478923, 31479555, 31689837, 31697803, 31697804, 31704857, 31748924		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thrombocythemia, Essential	Thrombocythemia	LHGDN	15837627, 16434490, 16728702, 16885051, 16888614, 16923108, 16926301, 16929538, 17229651, 17262192, 17266061, 17379742, 17392820, 17440984, 17611562, 17625603, 17873518, 17961178, 18092959, 18094555, 18166784, 18321571, 18365193, 18519514, 18701405, 18720212, 18728027, 18754026, 18802948, 19118011, 19129688, 19176988		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thrombocythemia, Essential	Thrombocythemia	ORPHANET_DG	21653328, 21825979		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thrombocytopenia	Thrombocytopenia	Pubtator	27167495, 28674362, 29022213, 29565699, 34324169, 35576311	Associate	★☆☆☆☆ Found in Text Mining only
Thrombocytopenia-Absent Radius Syndrome	Thrombocytopenia-Absent Radius Syndrome	BEFREE	11012189		★☆☆☆☆ Found in Text Mining only
Thrombocytosis	Thrombocytosis	Pubtator	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	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thrombocytosis	Thrombocytosis	BEFREE	16916724, 17145859, 17183644, 17194663, 17488875, 18032973, 18160670, 18534315, 18575865, 18802948, 19939582, 20154217, 20194893, 20633767, 21242185, 21350094, 21685469, 22157736, 22203487, 22686448, 23057517, 23594705, 23613267, 24398328, 24399021, 24507814, 25143485, 25195195, 26754830, 27114372, 27175028, 27389715, 28955303, 29516275, 29592977, 29979407, 31428969		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thrombocytosis	Thrombocytosis	LHGDN	16990759, 17507997, 18040685, 18059483, 18166783, 18566540, 18575865		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thrombocytosis	Thrombocytosis	CTD_human_DG	19287382, 19287384		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thrombocytosis	Thrombocytosis	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thrombocytosis, Autosomal Dominant	Thrombocytosis	CTD_human_DG	15781101, 15858187, 16484586, 16896569, 19154659, 19636672, 20434300, 21942426		★☆☆☆☆ Found in Text Mining only
Thromboembolism	Thromboembolism	Pubtator	19174256, 24858412, 37369465	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thrombophilia	Thrombophilia	BEFREE	17263783, 18768782, 18796251, 19336736, 21232003, 22203487, 23941968, 25042466, 27595148, 27812779		★☆☆☆☆ Found in Text Mining only
Thrombophilia	Thrombophilia	Pubtator	17577920, 18796251, 21442635, 23975181, 25804613, 32654426, 33507708	Associate	★☆☆☆☆ Found in Text Mining only
Thrombophilia, hereditary	Thrombophilia	BEFREE	18796251		★☆☆☆☆ Found in Text Mining only
Thrombosis	Thrombosis	Pubtator	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	Associate	★☆☆☆☆ Found in Text Mining only
Thrombosis of cerebral veins	Thrombosis	BEFREE	17263783, 18600099, 21893442, 22469236, 28609766		★☆☆☆☆ Found in Text Mining only
Thymoma	Thymoma	BEFREE	18482053		★☆☆☆☆ Found in Text Mining only
Thyroid Cancer Papillary	Papillary thyroid cancer	Pubtator	30964171, 35090515	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid Carcinoma Anaplastic	Thyroid cancer	Pubtator	29615459, 30758123	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasms	Thyroid cancer	Pubtator	31135274, 32737449, 35813296, 40198658	Associate	★☆☆☆☆ Found in Text Mining only
Toxic Epidermal Necrolysis	Stevens-Johnson Syndrome	BEFREE	30401948		★☆☆☆☆ Found in Text Mining only
Transient Cerebral Ischemia	Cerebral Ischemia	BEFREE	27337676		★☆☆☆☆ Found in Text Mining only
Transient Ischemic Attack	Transient Ischemic Attack	BEFREE	27337676		★☆☆☆☆ Found in Text Mining only
Transient Ischemic Attack	Transient Ischemic Attack	HPO_DG			★☆☆☆☆ Found in Text Mining only
Trigeminal Neuralgia	Trigeminal neuralgia	BEFREE	29725364		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	24986690, 26163633, 26317899, 27075627, 27389715, 29933930, 30295334, 30576871, 33280271, 33599741, 37185776, 38238287, 38238303	Associate	★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	26317899, 27075627, 28752839, 29752723, 29933930, 31242627		★☆☆☆☆ Found in Text Mining only
Tumoral calcinosis	Tumoral Calcinosis	CTD_human_DG	21335463		★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	BEFREE	19592695, 21831733, 22065112, 22269120, 23511034, 24382939, 24385239, 26398853, 28139755		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ulcerative Colitis	Ulcerative colitis	CTD_human_DG	20228799, 21297633		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	27322953, 27556503, 28770966, 29665744, 34034714, 36530656	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine Cervical Neoplasm	Uterine cervix neoplasm	CTD_human_DG	27470402		★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	25127987, 27581326, 31007650, 31298355, 34118143	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveitis Anterior	Anterior uveitis	Pubtator	27965977	Associate	★☆☆☆☆ Found in Text Mining only
Uveomeningoencephalitic Syndrome	Uveomeningoencephalitic Syndrome	BEFREE	23611997		★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular disease	Pubtator	32005002, 39652998	Associate	★☆☆☆☆ Found in Text Mining only
Vasculitis Leukocytoclastic Cutaneous	Vasculitis	Pubtator	37171742	Associate	★☆☆☆☆ Found in Text Mining only
Venous Thromboembolism	Venous thromboembolism	Pubtator	17307838, 23116358, 31217187	Associate	★☆☆☆☆ Found in Text Mining only
Venous Thrombosis	Venous thrombosis	Pubtator	17059429, 17263783, 17440984, 19559071, 21484303, 23876158, 23997080, 25339837, 25804613, 25834519, 27175028, 28291640, 31994332, 34440447, 34897288, 36042023, 38238287, 40287867	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Vertical Talus	Vertical Talus	BEFREE	21893442, 25042466, 28609766		★☆☆☆☆ Found in Text Mining only
Vitiligo	Vitiligo	Pubtator	26345342	Associate	★☆☆☆☆ Found in Text Mining only
Wernicke Encephalopathy	Wernicke Encephalopathy	BEFREE	28109775		★☆☆☆☆ Found in Text Mining only
Wernicke-Korsakoff Syndrome	Korsakoff psychosis	BEFREE	28109775		★☆☆☆☆ Found in Text Mining only