VEGFC (vascular endothelial growth factor C)

Gene

• Entrez ID: 7424
• Gene name: Vascular endothelial growth factor C
• Gene symbol: VEGFC
• Synonyms (NCBI Gene): Flt4-L, LMPH1D, LMPHM4, VRP
• Chromosome: 4
• Chromosome location: 4q34.3
• Summary: The protein encoded by this gene is a member of the platelet-derived growth factor/vascular endothelial growth factor (PDGF/VEGF) family. The encoded protein promotes angiogenesis and endothelial cell growth, and can also affect the permeability of blood

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs587777566	->AA	Pathogenic	Frameshift variant, coding sequence variant
rs587777567	G>A	Pathogenic	Stop gained, coding sequence variant
rs1057524647	T>A	Pathogenic	Splice acceptor variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT021989	hsa-miR-128-3p	Microarray	17612493
MIRT054253	hsa-miR-27b-3p	ELISA, Immunofluorescence, Microarray, Luciferase reporter assay, QRTPCR, Western blot	23593282
MIRT021989	hsa-miR-128-3p	SK-MES-1	25001183
MIRT021989	hsa-miR-128-3p	SK-MES-1	25001183
MIRT631912	hsa-miR-508-5p	HITS-CLIP	23824327
MIRT531421	hsa-miR-3200-5p	HITS-CLIP	23824327
MIRT631911	hsa-miR-6501-3p	HITS-CLIP	23824327
MIRT675482	hsa-miR-1273g-3p	HITS-CLIP	23824327
MIRT631910	hsa-miR-6849-3p	HITS-CLIP	23824327
MIRT631909	hsa-miR-939-3p	HITS-CLIP	23824327
MIRT631908	hsa-miR-766-3p	HITS-CLIP	23824327
MIRT675481	hsa-miR-4793-3p	HITS-CLIP	23824327
MIRT631907	hsa-miR-1285-3p	HITS-CLIP	23824327
MIRT631906	hsa-miR-3187-5p	HITS-CLIP	23824327
MIRT631905	hsa-miR-5189-5p	HITS-CLIP	23824327
MIRT631904	hsa-miR-612	HITS-CLIP	23824327
MIRT631902	hsa-miR-6860	HITS-CLIP	23824327
MIRT675480	hsa-miR-4252	HITS-CLIP	23824327
MIRT631903	hsa-miR-661	HITS-CLIP	23824327
MIRT631901	hsa-miR-196a-3p	HITS-CLIP	23824327
MIRT631900	hsa-miR-6512-3p	HITS-CLIP	23824327
MIRT631899	hsa-miR-6720-5p	HITS-CLIP	23824327
MIRT675479	hsa-miR-7703	HITS-CLIP	23824327
MIRT631912	hsa-miR-508-5p	HITS-CLIP	23824327
MIRT531421	hsa-miR-3200-5p	HITS-CLIP	23824327
MIRT631911	hsa-miR-6501-3p	HITS-CLIP	23824327
MIRT631910	hsa-miR-6849-3p	HITS-CLIP	23824327
MIRT631909	hsa-miR-939-3p	HITS-CLIP	23824327
MIRT631908	hsa-miR-766-3p	HITS-CLIP	23824327
MIRT631907	hsa-miR-1285-3p	HITS-CLIP	23824327
MIRT631906	hsa-miR-3187-5p	HITS-CLIP	23824327
MIRT631905	hsa-miR-5189-5p	HITS-CLIP	23824327
MIRT631904	hsa-miR-612	HITS-CLIP	23824327
MIRT631902	hsa-miR-6860	HITS-CLIP	23824327
MIRT631903	hsa-miR-661	HITS-CLIP	23824327
MIRT631901	hsa-miR-196a-3p	HITS-CLIP	23824327
MIRT631900	hsa-miR-6512-3p	HITS-CLIP	23824327
MIRT631899	hsa-miR-6720-5p	HITS-CLIP	23824327
MIRT531424	hsa-miR-548m	PAR-CLIP	22012620
MIRT531423	hsa-miR-577	PAR-CLIP	22012620
MIRT531422	hsa-miR-4678	PAR-CLIP	22012620
MIRT531421	hsa-miR-3200-5p	PAR-CLIP	22012620
MIRT531420	hsa-miR-3185	PAR-CLIP	22012620
MIRT531419	hsa-miR-4668-5p	PAR-CLIP	22012620
MIRT439305	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT439305	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT732064	hsa-miR-101-3p	ELISA, Immunohistochemistry, Luciferase reporter assay, qRT-PCR, Western blot	26460960
MIRT732064	hsa-miR-101-3p	ELISA, Immunohistochemistry, Luciferase reporter assay, qRT-PCR, Western blot	26460960
MIRT054253	hsa-miR-27b-3p	ELISA, Immunohistochemistry, Luciferase reporter assay, qRT-PCR, Western blot	26460960
MIRT054253	hsa-miR-27b-3p	ELISA, Immunohistochemistry, Luciferase reporter assay, qRT-PCR, Western blot	26460960
MIRT021989	hsa-miR-128-3p	ELISA, Immunohistochemistry, Luciferase reporter assay, qRT-PCR, Western blot	26460960
MIRT021989	hsa-miR-128-3p	ELISA, Immunohistochemistry, Luciferase reporter assay, qRT-PCR, Western blot	26460960
MIRT732064	hsa-miR-101-3p	Luciferase reporter assay, qRT-PCR, Western blot	26299768
MIRT732064	hsa-miR-101-3p	Luciferase reporter assay, qRT-PCR, Western blot	26299768
MIRT054253	hsa-miR-27b-3p	RNA-seq	31722236
MIRT733612	hsa-miR-335-5p	Luciferase reporter assay, qRT-PCR, Western blotting	33968662
MIRT631912	hsa-miR-508-5p	HITS-CLIP	23824327
MIRT531421	hsa-miR-3200-5p	HITS-CLIP	23824327
MIRT631911	hsa-miR-6501-3p	HITS-CLIP	23824327
MIRT675482	hsa-miR-1273g-3p	HITS-CLIP	23824327
MIRT631910	hsa-miR-6849-3p	HITS-CLIP	23824327
MIRT631909	hsa-miR-939-3p	HITS-CLIP	23824327
MIRT631908	hsa-miR-766-3p	HITS-CLIP	23824327
MIRT675481	hsa-miR-4793-3p	HITS-CLIP	23824327
MIRT631907	hsa-miR-1285-3p	HITS-CLIP	23824327
MIRT631906	hsa-miR-3187-5p	HITS-CLIP	23824327
MIRT631905	hsa-miR-5189-5p	HITS-CLIP	23824327
MIRT631904	hsa-miR-612	HITS-CLIP	23824327
MIRT631902	hsa-miR-6860	HITS-CLIP	23824327
MIRT675480	hsa-miR-4252	HITS-CLIP	23824327
MIRT631903	hsa-miR-661	HITS-CLIP	23824327
MIRT631901	hsa-miR-196a-3p	HITS-CLIP	23824327
MIRT631900	hsa-miR-6512-3p	HITS-CLIP	23824327
MIRT631899	hsa-miR-6720-5p	HITS-CLIP	23824327
MIRT675479	hsa-miR-7703	HITS-CLIP	23824327
MIRT631912	hsa-miR-508-5p	HITS-CLIP	23824327
MIRT531421	hsa-miR-3200-5p	HITS-CLIP	23824327
MIRT631911	hsa-miR-6501-3p	HITS-CLIP	23824327
MIRT631910	hsa-miR-6849-3p	HITS-CLIP	23824327
MIRT631909	hsa-miR-939-3p	HITS-CLIP	23824327
MIRT631908	hsa-miR-766-3p	HITS-CLIP	23824327
MIRT631907	hsa-miR-1285-3p	HITS-CLIP	23824327
MIRT631906	hsa-miR-3187-5p	HITS-CLIP	23824327
MIRT631905	hsa-miR-5189-5p	HITS-CLIP	23824327
MIRT631904	hsa-miR-612	HITS-CLIP	23824327
MIRT631902	hsa-miR-6860	HITS-CLIP	23824327
MIRT631903	hsa-miR-661	HITS-CLIP	23824327
MIRT631901	hsa-miR-196a-3p	HITS-CLIP	23824327
MIRT631900	hsa-miR-6512-3p	HITS-CLIP	23824327
MIRT631899	hsa-miR-6720-5p	HITS-CLIP	23824327
MIRT531424	hsa-miR-548m	PAR-CLIP	22012620
MIRT531423	hsa-miR-577	PAR-CLIP	22012620
MIRT531422	hsa-miR-4678	PAR-CLIP	22012620
MIRT531421	hsa-miR-3200-5p	PAR-CLIP	22012620
MIRT531420	hsa-miR-3185	PAR-CLIP	22012620
MIRT531419	hsa-miR-4668-5p	PAR-CLIP	22012620
MIRT755836	hsa-miR-513a-5p	Luciferase reporter assay, Western blotting, qRT-PCR, in vitro cullelar assays, In situ hybridization, Flow cytometry, in vivo gain/loss-of-function experiments	36617735
MIRT1483898	hsa-miR-369-3p	CLIP-seq
MIRT1483899	hsa-miR-374c	CLIP-seq
MIRT1483900	hsa-miR-4666-3p	CLIP-seq
MIRT1483901	hsa-miR-579	CLIP-seq
MIRT1483902	hsa-miR-655	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
RUNX2	Activation	22641097
SIX1	Activation	22466647

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001525	Process	Angiogenesis	IEA
GO:0001666	Process	Response to hypoxia	IBA
GO:0002040	Process	Sprouting angiogenesis	IBA
GO:0002052	Process	Positive regulation of neuroblast proliferation	IEA
GO:0005515	Function	Protein binding	IPI	20145116, 21130043, 32296183
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	IBA
GO:0005615	Component	Extracellular space	IEA
GO:0006929	Process	Substrate-dependent cell migration	TAS	8617204
GO:0007165	Process	Signal transduction	TAS	8617204
GO:0008083	Function	Growth factor activity	IBA
GO:0008083	Function	Growth factor activity	IEA
GO:0008283	Process	Cell population proliferation	IEA
GO:0008284	Process	Positive regulation of cell population proliferation	IEA
GO:0008284	Process	Positive regulation of cell population proliferation	IEA
GO:0008284	Process	Positive regulation of cell population proliferation	TAS	8617204
GO:0009410	Process	Response to xenobiotic stimulus	IEA
GO:0009887	Process	Animal organ morphogenesis	IEA
GO:0014009	Process	Glial cell proliferation	IEA
GO:0016020	Component	Membrane	IEA
GO:0016331	Process	Morphogenesis of embryonic epithelium	IEA
GO:0030154	Process	Cell differentiation	IEA
GO:0030335	Process	Positive regulation of cell migration	IEA
GO:0030947	Process	Regulation of vascular endothelial growth factor receptor signaling pathway	IEA
GO:0031093	Component	Platelet alpha granule lumen	TAS
GO:0038084	Process	Vascular endothelial growth factor signaling pathway	IBA
GO:0042056	Function	Chemoattractant activity	IBA
GO:0042056	Function	Chemoattractant activity	IDA	19275959
GO:0043185	Function	Vascular endothelial growth factor receptor 3 binding	IBA
GO:0043185	Function	Vascular endothelial growth factor receptor 3 binding	IEA
GO:0043185	Function	Vascular endothelial growth factor receptor 3 binding	IPI	23878260
GO:0043536	Process	Positive regulation of blood vessel endothelial cell migration	IEA
GO:0045668	Process	Negative regulation of osteoblast differentiation	IEA
GO:0045766	Process	Positive regulation of angiogenesis	IEA
GO:0045776	Process	Negative regulation of blood pressure	IEA
GO:0048010	Process	Vascular endothelial growth factor receptor signaling pathway	IBA
GO:0048010	Process	Vascular endothelial growth factor receptor signaling pathway	IDA	23878260
GO:0048010	Process	Vascular endothelial growth factor receptor signaling pathway	IEA
GO:0048018	Function	Receptor ligand activity	IEA
GO:0050679	Process	Positive regulation of epithelial cell proliferation	IEA
GO:0050714	Process	Positive regulation of protein secretion	IEA
GO:0050918	Process	Positive chemotaxis	IEA
GO:0050930	Process	Induction of positive chemotaxis	IBA
GO:0050930	Process	Induction of positive chemotaxis	IDA	19275959
GO:0051781	Process	Positive regulation of cell division	IEA
GO:0060252	Process	Positive regulation of glial cell proliferation	IEA
GO:0060754	Process	Positive regulation of mast cell chemotaxis	IBA
GO:0060754	Process	Positive regulation of mast cell chemotaxis	IDA	19275959
GO:1901492	Process	Positive regulation of lymphangiogenesis	IEA
GO:1902462	Process	Positive regulation of mesenchymal stem cell proliferation	IEA
GO:1990830	Process	Cellular response to leukemia inhibitory factor	IEA

Other IDs

• MIM: 601528
• HGNC: 12682
• e!Ensembl: ENSG00000150630

Protein

• UniProt ID: P49767
• Protein name: Vascular endothelial growth factor C (VEGF-C) (Flt4 ligand) (Flt4-L) (Vascular endothelial growth factor-related protein) (VRP)
• Protein function: Growth factor active in angiogenesis, and endothelial cell growth, stimulating their proliferation and migration and also has effects on the permeability of blood vessels. May function in angiogenesis of the venous and lymphatic vascular systems
• PDB: 2X1W, 2X1X, 4BSK, 6TJT
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00341	PDGF	131 → 211	PDGF/VEGF domain	Domain
  PF03128	CXCXC	283 → 295	CXCXC repeat	Repeat
  PF03128	CXCXC	308 → 319	CXCXC repeat	Repeat
  PF03128	CXCXC	331 → 343	CXCXC repeat	Repeat

• Tissue specificity: TISSUE SPECIFICITY: Expressed in the spleen (PubMed:8700872, PubMed:9247316). Expressed in the lymph node, thymus, appendix and bone marrow (PubMed:9247316). Expressed in the heart, placenta, skeletal muscle, ovary and small intestine (PubMed:8617204, Pub
• Sequence:

  MHLLGFFSVACSLLAAALLPGPREAPAAAAAFESGLDLSDAEPDAGEATAYASKDLEEQL
  RSVSSVDELMTVLYPEYWKMYKCQLRKGGWQHNREQANLNSRTEETIKFAAAHYNTEILK
  SIDNEWRKTQCMPREVCIDVGKEFGVATNTFFKPPCVSVYRCGGCCNSEGLQCMNTSTSY
  LSKTLFEITVPLSQGPKPVTISFANHTSCRCMSKLDVYRQVHSIIRRSLPATLPQCQAAN
  KTCPTNYMWNNHICRCLAQEDFMFSSDAGDDSTDGFHDICGPNKELDEETCQCVCRAGLR
  PASCGPHKELDRNSCQCVCKNKLFPSQCGANREFDENTCQCVCKRTCPRNQPLNPGKCAC
  ECTESPQKCLLKGKKFHHQTCSCYRRPCTNRQKACEPGFSYSEEVCRCVPSYWKRPQMS

• Sequence length: 419

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
Lymphatic malformation 4	Pathogenic	rs587777566, rs587777567	RCV000128848 RCV000128849	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Squamous cell carcinoma of the head and neck	Pathogenic	rs1057524647	RCV005898141	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC OBSTRUCTIVE PULMONARY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL PRIMARY LYMPHEDEMA OF GORDON	—	Disgenet, Orphanet Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMANGIOSARCOMA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPOTHYROIDISM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LYMPHATIC MALFORMATION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphedema	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MASTOCYTOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MELANOMA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TREATMENT-RESISTANT HYPERTENSION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VEGFC-related disorder	Uncertain significance; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	21732038		★☆☆☆☆ Found in Text Mining only
Acute monocytic leukemia	Monocytic Leukemia	BEFREE	29345176, 30185550		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	LHGDN	12168824, 14744769, 15173661, 16116610		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	10873096, 14744769, 17970036, 27461624		★☆☆☆☆ Found in Text Mining only
Adenoid Cystic Carcinoma	Adenocarcinoma	BEFREE	25797250		★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	BEFREE	12754739, 28347226		★☆☆☆☆ Found in Text Mining only
Adult Acute Myeloblastic Leukemia	Myeloblastic Leukemia	BEFREE	20522712, 29345176, 29544089		★☆☆☆☆ Found in Text Mining only
Adult Hodgkin Lymphoma	Hodgkin Lymphoma	BEFREE	25098430		★☆☆☆☆ Found in Text Mining only
Age related macular degeneration	Age-related macular degeneration	BEFREE	16842779		★☆☆☆☆ Found in Text Mining only
Agenesis of corpus callosum	Agenesis Of Corpus Callosum	BEFREE	25797250		★☆☆☆☆ Found in Text Mining only
Anaplastic thyroid carcinoma	Anaplastic thyroid cancer	BEFREE	30136914		★☆☆☆☆ Found in Text Mining only
Anemia Sickle Cell	Sickle cell anemia	Pubtator	37012663	Stimulate	★☆☆☆☆ Found in Text Mining only
Ankylosing spondylitis	Ankylosing Spondylitis	BEFREE	11824969		★☆☆☆☆ Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA	Syndromic microphthalmia	BEFREE	21685330		★☆☆☆☆ Found in Text Mining only
Aplasia Cutis Congenita	Aplasia Cutis Congenita	BEFREE	25797250		★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	31692815	Associate	★☆☆☆☆ Found in Text Mining only
Ataxia Telangiectasia	Ataxia telangiectasia	Pubtator	26189429	Associate	★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	Pubtator	14990597	Associate	★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	LHGDN	17926187		★☆☆☆☆ Found in Text Mining only
Behcet Syndrome	Behcet disease	Pubtator	34918882	Stimulate	★☆☆☆☆ Found in Text Mining only
Bile Duct Neoplasms	Bile duct neoplasms	Pubtator	16688800	Associate	★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	21902544, 22049531, 23251617, 25658842, 25936422, 28423532, 28966690, 30076714, 30816487, 31593555, 31650173		★☆☆☆☆ Found in Text Mining only
Bone Diseases Metabolic	Bone disease	Pubtator	21448429	Associate	★☆☆☆☆ Found in Text Mining only
Bone Marrow Diseases	Bone marrow diseases	Pubtator	32383346	Stimulate	★☆☆☆☆ Found in Text Mining only
Brain Ischemia	Brain ischemia	Pubtator	11029398	Stimulate	★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain neoplasms	Pubtator	18720359	Stimulate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	11175850, 12471041, 14715111, 15943035, 16489074, 17938864, 18292935, 18512120, 19154418, 19351758, 19382240, 19580679, 19940005, 20608938, 21029043, 22466647, 22607367, 23054001, 23879170, 24078449, 24402572, 25744065, 26104766, 26124351, 26173622, 26339369, 26911617, 27214240, 27806339, 28056899, 28364216, 29963266, 30387014, 30788837, 30993496, 31390756		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	CTD_human_DG	18509974, 26124351		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	10329591, 10551327, 12115372, 12471041, 16080559, 16570043, 17353919, 17912247, 18190720, 19154418, 19940005, 20608938, 21915477, 22020194, 22284579, 22607367, 22906075, 23613720, 23621275, 23981902, 24402572, 25744065, 26104766, 26173622, 26339369, 26656588, 26911617, 30063723, 30255700, 32788048, 33299122, 34793664, 37764312	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Neoplasms	Breast neoplasm	Pubtator	38041815	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carcinogenesis	Carcinogenesis	Pubtator	16394279, 23593187, 24998585, 26339369, 29137038, 31766385	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	11687953, 11920583, 12754739, 21676077, 23845470		★☆☆☆☆ Found in Text Mining only
Carcinoma Adenoid Cystic	Adenoid cystic carcinoma	Pubtator	21423152	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Basal Cell	Basal cell carcinoma	Pubtator	24608123, 31692815	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Ductal Breast	Ductal carcinoma of breast	Pubtator	16080559	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	23737988, 24478168, 34845413, 36157115	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma in situ of uterine cervix	Cervical Intraepithelial Neoplasia	BEFREE	14648657		★☆☆☆☆ Found in Text Mining only
Carcinoma Intraductal Noninfiltrating	Intraductal noninfiltrating carcinoma	Pubtator	10329591, 15841074	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Merkel Cell	Merkel cell carcinoma	Pubtator	18408656	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	21902544, 22049531, 23251617, 25658842, 25936422, 28423532, 28966690, 30076714, 30816487, 31593555, 31650173		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	18292935, 18789485, 19152186, 19758816, 21666710, 21680174, 22292658, 25003617, 26148594, 27268917, 28623914, 28925100, 29890027		★☆☆☆☆ Found in Text Mining only
Carcinoma Ovarian Epithelial	Epithelial ovarian carcinoma	Pubtator	28591727	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	19302703, 37416763	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Small Cell	Small cell carcinoma	Pubtator	22938476	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	15867486, 20036889, 20827282, 24998585, 27666723, 35935970, 38203550	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	19911196, 24413079, 27780361, 28344213, 29075785		★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Cerebral Infarction	BEFREE	31191213		★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	11437408, 12189553, 14648657, 20429915, 21676077, 22817694, 23963849, 24603190, 24650367, 28923073, 29387205, 29658350		★☆☆☆☆ Found in Text Mining only
Cervical Intraepithelial Neoplasia	Cervical Intraepithelial Neoplasia	BEFREE	21947598		★☆☆☆☆ Found in Text Mining only
Cervix carcinoma	Cervix carcinoma	BEFREE	11437408, 20429915, 21676077, 22817694, 23963849, 24603190, 24650367, 28923073, 29387205, 29658350		★☆☆☆☆ Found in Text Mining only
Childhood Acute Myeloid Leukemia	Acute Myeloid Leukemia	BEFREE	18245556, 20522712		★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	Pubtator	18192971, 18395502, 23132676, 26125824	Associate	★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	BEFREE	19291182		★☆☆☆☆ Found in Text Mining only
Chondrosarcoma	Chondrosarcoma	BEFREE	27166194, 27252405, 28771226, 29730230, 30790501		★☆☆☆☆ Found in Text Mining only
Chondrosarcoma	Chondrosarcoma	Pubtator	27229532, 27345723, 28771226, 30790501	Associate	★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	BEFREE	28471955		★☆☆☆☆ Found in Text Mining only
Cirrhosis	Cirrhosis	BEFREE	24478168		★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	18364118, 21804602, 25680269, 28445620, 31739210		★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic Neoplasms	BEFREE	18364118		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	10970690, 11687953, 11914602, 12660643, 12754739, 18364118, 19276682, 19409048, 21448429, 22496919, 23593282, 24101199, 25543087, 25754161, 26543080, 27907907, 28742689, 30021192		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	10970690, 11687953, 14720324, 15484296, 19276682, 20459642, 21448429, 26001393, 26917449, 27713159, 31434836, 35179811, 35208526, 36781122, 37286729	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	LHGDN	12792749, 15484296, 16474989, 17641542		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	BEFREE	18364118, 25754161		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	28347226	Inhibit	★☆☆☆☆ Found in Text Mining only
Congenital Epicanthus	Congenital Epicanthus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	11846206, 29942157, 30809300		★☆☆☆☆ Found in Text Mining only
Corneal Neovascularization	Corneal Neovascularization	BEFREE	28233432		★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	19565133, 30554564, 31692815		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	19565133, 30554564, 31692815		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	Pubtator	31692815	Associate	★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	30554564, 31692815		★☆☆☆☆ Found in Text Mining only
Coronary Restenosis	Coronary restenosis	Pubtator	29557990	Associate	★☆☆☆☆ Found in Text Mining only
Cushing's symphalangism	Proximal symphalangism	Pubtator	18190720	Stimulate	★☆☆☆☆ Found in Text Mining only
Cutaneous Melanoma	Melanoma	BEFREE	12910524, 18561194, 28756123		★☆☆☆☆ Found in Text Mining only
Cyst	Cyst	BEFREE	30297530		★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic fibrosis	Pubtator	17382901	Stimulate	★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	11824968, 17216674		★☆☆☆☆ Found in Text Mining only
Dermatitis	Dermatitis	BEFREE	30863410		★☆☆☆☆ Found in Text Mining only
Dermatitis, Atopic	Dermatitis	BEFREE	22574929		★☆☆☆☆ Found in Text Mining only
Dermatologic disorders	Dermatologic Disorders	BEFREE	27545193		★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	16636650, 16943230, 22209952, 30102256		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	16636650, 16943230, 22209952, 26072347, 28860123, 30102256		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	34991588	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	26072347		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	15963467, 26072347, 30389746		★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathies	Diabetic neuropathy	Pubtator	19145238	Stimulate	★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathies	Diabetic neuropathy	Pubtator	34424825	Associate	★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathy	Diabetic Nephropathy	BEFREE	28545716, 30389746		★☆☆☆☆ Found in Text Mining only
Diabetic Retinopathy	Diabetic Retinopathy	BEFREE	16636650, 16943230, 26072347		★☆☆☆☆ Found in Text Mining only
Diabetic Retinopathy	Diabetic retinopathy	Pubtator	26072347, 32836220	Associate	★☆☆☆☆ Found in Text Mining only
Diabetic Retinopathy	Diabetic retinopathy	Pubtator	34137197	Stimulate	★☆☆☆☆ Found in Text Mining only
Eczema	Eczema	BEFREE	22574929		★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	28474124, 31333122		★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	27051050	Associate	★☆☆☆☆ Found in Text Mining only
Endometrioma	Endometrioma	BEFREE	15668894		★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	LHGDN	15668894		★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	BEFREE	17482599		★☆☆☆☆ Found in Text Mining only
Epilepsy, Temporal Lobe	Epilepsy	BEFREE	31297012		★☆☆☆☆ Found in Text Mining only
Epithelial ovarian cancer	Ovarian cancer	BEFREE	19911196, 27780361, 28344213		★☆☆☆☆ Found in Text Mining only
Erysipelas	Erysipelas	HPO_DG			★☆☆☆☆ Found in Text Mining only
Esophageal carcinoma	Esophageal Carcinoma	BEFREE	20584281, 21482472, 22897688, 25205106, 25212831, 27540974, 29069758, 29452214		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophageal neoplasm	Pubtator	17695532, 20584281, 22441818, 25640364, 31983128, 37286356	Associate	★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophagus Neoplasm	BEFREE	20584281, 21482472, 22897688, 25205106, 25212831, 27540974, 29452214		★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	15867486, 16874878, 21939555, 22544356, 23125006, 36636641, 37286356	Associate	★☆☆☆☆ Found in Text Mining only
Essential Hypertension	Hypertension	BEFREE	22209952		★☆☆☆☆ Found in Text Mining only
Extrahepatic Cholangiocarcinoma	Cholangiocarcinoma	BEFREE	23721191		★☆☆☆☆ Found in Text Mining only
Fibrosarcoma	Fibrosarcoma	BEFREE	19318557, 9312130		★☆☆☆☆ Found in Text Mining only
Follicular thyroid carcinoma	Follicular Thyroid Carcinoma	BEFREE	10598188		★☆☆☆☆ Found in Text Mining only
Gallbladder Carcinoma	Gallbladder cancer	BEFREE	25154789, 29844685, 30344750		★☆☆☆☆ Found in Text Mining only
gallbladder neoplasm	Neoplasm of gallbladder	LHGDN	12469214		★☆☆☆☆ Found in Text Mining only
Ganglioneuroma	Ganglioneuroma	BEFREE	22804730		★☆☆☆☆ Found in Text Mining only
Gastroesophageal Reflux	Gastroesophageal reflux disease	Pubtator	23317352	Associate	★☆☆☆☆ Found in Text Mining only
Gastrointestinal Stromal Tumors	Gastrointestinal stromal tumor	BEFREE	21972089		★☆☆☆☆ Found in Text Mining only
Gastrointestinal Stromal Tumors	Gastrointestinal stromal tumor	Pubtator	30358224	Associate	★☆☆☆☆ Found in Text Mining only
Giant Cell Tumor of Bone	Giant cell tumor of bone	Pubtator	35695550	Associate	★☆☆☆☆ Found in Text Mining only
Glaucoma Angle Closure	Angle closure glaucoma	Pubtator	26988898	Associate	★☆☆☆☆ Found in Text Mining only
Glaucoma Open Angle	Open angle glaucoma	Pubtator	26988898	Associate	★☆☆☆☆ Found in Text Mining only
Glaucoma, Primary Open Angle	Glaucoma	BEFREE	18474779		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	16523449, 26093087, 26373393, 26637806, 29939339		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	26637806, 26753562, 30497369	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	26093087, 26373393, 26637806, 29939339		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	19724686, 27878252		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	27334625, 30278527	Associate	★☆☆☆☆ Found in Text Mining only
Glomerulosclerosis Focal Segmental	Focal segmental glomerulosclerosis	Pubtator	22038228	Stimulate	★☆☆☆☆ Found in Text Mining only
Graves Disease	Graves disease	Pubtator	35865663	Associate	★☆☆☆☆ Found in Text Mining only
Hashimoto Disease	Hashimoto disease	Pubtator	35865663	Associate	★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	26260101	Stimulate	★☆☆☆☆ Found in Text Mining only
HELLP Syndrome	HELLP Syndrome	BEFREE	18167313		★☆☆☆☆ Found in Text Mining only
Hemangioma	Hemangioma	BEFREE	22961441, 30323877		★☆☆☆☆ Found in Text Mining only
Hemangiosarcoma	Hemangiosarcoma	CTD_human_DG	17569031		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hemangiosarcoma	Hemangiosarcoma	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hennekam lymphangiectasia lymphedema syndrome	Hennekam syndrome	Pubtator	28985353	Associate	★☆☆☆☆ Found in Text Mining only
Hennekam lymphangiectasia-lymphedema syndrome	Hennekam lymphangiectasia-lymphedema syndrome	BEFREE	28985353		★☆☆☆☆ Found in Text Mining only
Hepatic Veno Occlusive Disease	Hepatic veno occlusive disease	Pubtator	21330458	Stimulate	★☆☆☆☆ Found in Text Mining only
Hereditary hemochromatosis	Hereditary Hemochromatosis	BEFREE	28978035		★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin Disease	BEFREE	25098430		★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	BEFREE	16943230		★☆☆☆☆ Found in Text Mining only
Hyperkeratosis	Hyperkeratosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hyperplasia	Hyperplasia	Pubtator	20584281	Stimulate	★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	22957504, 29346014, 30378108		★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	20215856, 34853621	Associate	★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	22552325	Stimulate	★☆☆☆☆ Found in Text Mining only
Ichthyosis, X-Linked	Ichthyosis	BEFREE	19351758		★☆☆☆☆ Found in Text Mining only
Infantile hemangioma	Hemangioma	BEFREE	30323877		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory bowel disease	Pubtator	25927528	Associate	★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	30134228, 30863410		★☆☆☆☆ Found in Text Mining only
Inflammatory dermatosis	Dermatitis	BEFREE	30863410		★☆☆☆☆ Found in Text Mining only
Insulin Resistance	Diabetes mellitus, type 2	Pubtator	22471305	Inhibit	★☆☆☆☆ Found in Text Mining only
Intrahepatic Cholangiocarcinoma	Intrahepatic Cholangiocarcinoma	BEFREE	16601431, 18192971, 26299768		★☆☆☆☆ Found in Text Mining only
Irritable Bowel Syndrome	Irritable bowel syndrome	Pubtator	25927528	Associate	★☆☆☆☆ Found in Text Mining only
Ischemic Stroke	Ischemic stroke	Pubtator	35673992	Associate	★☆☆☆☆ Found in Text Mining only
Kaposi Sarcoma	Kaposi Sarcoma	BEFREE	10488101, 10594750		★☆☆☆☆ Found in Text Mining only
Kaposiform Hemangioendothelioma	Kaposiform Hemangioendothelioma	BEFREE	27990590		★☆☆☆☆ Found in Text Mining only
Keratitis	Keratitis	BEFREE	26608451		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	BEFREE	28545716		★☆☆☆☆ Found in Text Mining only
Kidney Failure, Acute	Kidney Failure	BEFREE	17353160		★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	11877295	Associate	★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	LHGDN	11999550		★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	11877295, 20522712	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	18245556, 20522712, 29345176, 29544089, 30185550		★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	LHGDN	18245556		★☆☆☆☆ Found in Text Mining only
Lip and Oral Cavity Carcinoma	Lip and Oral Cavity Carcinoma	BEFREE	17351086, 23593187		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	23737988, 24478168, 28209511		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver Cirrhosis	BEFREE	24478168		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	LHGDN	16755294, 17686546		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	22292658, 28623914, 28925100	Associate	★☆☆☆☆ Found in Text Mining only
Lymphangioleiomyomatosis	Lymphangiomyomatosis	BEFREE	25420303		★☆☆☆☆ Found in Text Mining only
Lymphangioma	Lymphangioma	BEFREE	11742043		★☆☆☆☆ Found in Text Mining only
LYMPHATIC MALFORMATION 4	Lymphatic Malformation	GENOMICS_ENGLAND_DG	30071673		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
LYMPHATIC MALFORMATION 4	Lymphatic Malformation	CTD_human_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	10390013, 11461086, 14720324, 14760756, 15040017, 15867486, 16755294, 16874878, 17094484, 17465468, 18192971, 18561194, 18974119, 19154418, 19589137, 19940005, 20459642, 20584281, 21986134, 22020194, 22284579, 22441818, 22502683, 22607367, 22906075, 23317352, 23737988, 24608123, 24716913, 24998585, 25640364, 26001393, 26917449, 27666723, 27713159, 28591727, 28771226, 28925100, 29578160, 30255700, 30965022, 31983128, 34643549, 37416763, 38041815, 38250152	Associate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	11437408, 12610509, 15368324, 15484296, 16482630, 16688800, 17353919, 17409493, 17695532, 18190720, 20225197, 20689828, 21448429, 22366442, 26104766, 26339369, 29137038, 29552758	Stimulate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic Metastasis	BEFREE	12941820, 15880525, 15930292, 15943035, 16260857, 16489074, 16525666, 16874878, 17904785, 18561194, 19318557, 19351758, 19382240, 20608938, 21111670, 21685330, 21904903, 22082308, 22340592, 22441818, 22502683, 22545097, 22607367, 24337012, 24700287, 24716913, 25504327, 26543080, 27166194, 27252405, 27527412, 28591727, 28771226, 28925100, 29243194, 29409810, 29578160, 29717026, 29890027, 30384405, 30483757, 30901976, 30971501		★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic Metastasis	LHGDN	16874878, 17203176, 17409493, 17931169, 18061373		★☆☆☆☆ Found in Text Mining only
Lymphedema	Lymphedema	Pubtator	23613720, 24201897, 32513642, 32592340, 36151039	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma	Lymphoma	LHGDN	11999550		★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	Pubtator	16156857	Associate	★☆☆☆☆ Found in Text Mining only
Malignant mesothelioma	Malignant Mesothelioma	BEFREE	12594815		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	11106244, 11175850, 12471041, 14715111, 15943035, 16489074, 17938864, 19351758, 19382240, 19580679, 19940005, 20608938, 21029043, 22466647, 22607367, 23054001, 23224595, 23879170, 24078449, 24379135, 24402572, 25744065, 26104766, 26124351, 26173622, 26339369, 26911617, 27214240, 27806339, 28056899, 28364216, 29963266, 30387014, 30788837, 30993496, 31390756		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	CTD_human_DG	18509974, 26124351		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of endometrium	Endometrial Cancer	BEFREE	31333122		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of esophagus	Esophagus Neoplasm	BEFREE	20584281, 21482472, 22897688, 25205106, 25212831, 27540974, 29452214		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of gallbladder	Gallbladder cancer	BEFREE	30344750		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of gastrointestinal tract	Malignant gastrointestinal tract tumors	BEFREE	17676380		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	18789485, 19152186, 19758816, 21666710, 21680174, 25003617, 26148594, 27268917, 28623914, 28925100, 29890027		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of mouth	Malignant neoplasm of mouth	BEFREE	17351086, 23593187		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	15867217, 19911196, 24413079, 29075785		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	11291931, 16482630, 19719950, 29434873		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	15880525, 16267000, 17062674, 17583576, 18974119, 19638584, 20564320, 22911748, 24338711, 24858271, 27527525, 29601651, 30053596, 30317243		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of skin	Skin cancer	BEFREE	27901498		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	16260857, 16344322, 17230534, 18068001, 18202713, 19010837, 22227171, 23475632, 23573305, 24716913, 25444928, 25521742, 26460960, 26750536, 30971501		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of thyroid	Thyroid cancer	BEFREE	12915657, 23845470, 29717026		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	21902544, 22049531, 23251617, 25658842, 25936422, 28423532, 28966690, 30076714, 30816487, 31593555, 31650173		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	10873096, 11291931, 12915657, 12963694, 14654540, 16482630, 17938864, 19719950, 19758816, 20103664, 21698469, 21804602, 22304008, 22967508, 23149913, 23344023, 23573305, 23593187, 24478168, 25003617, 25387667, 26824419, 27713159, 27852824, 27901498, 27939650, 28925100, 29075785, 29578160, 29800478, 30185550, 30901976, 31239267, 31322263, 31390756		★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	11437408, 20429915, 21676077, 22817694, 23963849, 24603190, 24650367, 28923073, 29387205, 29658350		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	18364118, 21804602, 25680269, 28445620, 31739210		★☆☆☆☆ Found in Text Mining only
Mammary Carcinoma, Human	Marfan Syndrome	CTD_human_DG	18509974, 26124351		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	LHGDN	12471041, 15943035, 16465426, 17353919, 18190720, 18717190		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	CTD_human_DG	18509974, 26124351		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	22562155, 26339369, 27214240, 27554339		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms, Human	Mammary Neoplasms	CTD_human_DG	18509974, 26124351		★☆☆☆☆ Found in Text Mining only
Mantle cell lymphoma	Mantle Cell Lymphoma	BEFREE	20029173		★☆☆☆☆ Found in Text Mining only
Mastocytosis	Mastocytosis	Pubtator	33687603	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
melanoma	Melanoma	BEFREE	12910524, 14676121, 16061674, 18561194, 22570180, 22572818, 28167241, 28756123, 28984690, 31354297		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
melanoma	Melanoma	LHGDN	14676121, 18679715		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
melanoma	Melanoma	CTD_human_DG	17562445		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Melanoma	Pubtator	18616526	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma Cutaneous Malignant	Melanoma	Pubtator	18561194	Associate	★☆☆☆☆ Found in Text Mining only
Mesangial sclerosis diffuse	Diffuse mesangial sclerosis	Pubtator	22038228	Stimulate	★☆☆☆☆ Found in Text Mining only
Mesothelioma	Mesothelioma	BEFREE	12594815		★☆☆☆☆ Found in Text Mining only
Mesothelioma Malignant	Mesothelioma	Pubtator	10487612	Associate	★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic Diseases	BEFREE	27511834		★☆☆☆☆ Found in Text Mining only
Metastatic Prostate Carcinoma	Metastatic Prostate Carcinoma	BEFREE	19638584		★☆☆☆☆ Found in Text Mining only
Milroy Disease	Milroy Disease	BEFREE	11175851, 11592985, 19002718, 23410910, 24744435		★☆☆☆☆ Found in Text Mining only
Milroy Disease	Milroy Disease	ORPHANET_DG	23410910		★☆☆☆☆ Found in Text Mining only
Milroy disease	Milroy Disease	Orphanet			★☆☆☆☆ Found in Text Mining only
Mouth Neoplasms	Mouth neoplasm	Pubtator	23065569, 23593187, 31692815	Associate	★☆☆☆☆ Found in Text Mining only
Mucocutaneous Lymph Node Syndrome	Kawasaki disease	BEFREE	17874221		★☆☆☆☆ Found in Text Mining only
Mycosis Fungoides	Mycosis fungoides	Pubtator	27545193	Stimulate	★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	30339474		★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Carcinoma	Nasopharyngeal carcinoma	Pubtator	22366442, 26191775, 35072651	Associate	★☆☆☆☆ Found in Text Mining only
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	BEFREE	31478229		★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Neoplasms	Nasopharyngeal Neoplasms	BEFREE	10880369		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	10488101, 10873096, 10970690, 11106244, 11179212, 11280723, 11291931, 11718224, 11914602, 11920583, 11948478, 12048269, 12471041, 12754739, 12910524, 12941820, 12963694, 14676121, 15107801, 15198686, 15867217, 15880525, 16061674, 16260857, 16278821, 16299244, 16482630, 16489074, 16497404, 16523449, 16728574, 17062674, 17446844, 17938864, 17970036, 18068001, 18364118, 18559522, 18629779, 18798279, 18829538, 19010837, 19117016, 19382240, 19409048, 19724686, 19779139, 19911196, 20225197, 20227330, 20308006, 20363046, 20584281, 20827282, 21482472, 21680174, 21910784, 21939555, 21972089, 22082308, 22227171, 22340592, 22562155, 22644515, 22897688, 22946664, 22952986, 22967508, 23054001, 23125006, 23146280, 23224595, 23475632, 23546515, 23573305, 23784694, 23995616, 24014887, 24379135, 24388748, 24607909, 24608123, 24716913, 24858271, 24862760, 25003617, 25098430, 25117980, 25154789, 25212831, 25387667, 25543087, 25680269, 25754161, 25792082, 25976290, 26104766, 26345913, 26460960, 26496979, 26911617, 26925549, 27166194, 27252405, 27417330, 27939650, 28087600, 28771226, 28904226, 29048623, 29075785, 29282520, 29339213, 29409810, 29578160, 29607940, 29730230, 29741783, 29939339, 30136914, 30662635, 30788837, 30809300, 30993496, 31007611, 31333122, 31478229		★☆☆☆☆ Found in Text Mining only
Nephrosis Lipoid	Nephrotic syndrome	Pubtator	22038228	Associate	★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	19141404, 20179233	Associate	★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	22804730		★☆☆☆☆ Found in Text Mining only
Non-alcoholic Fatty Liver Disease	Non-Alcoholic Fatty Liver Disease	BEFREE	31214028		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	11461086, 16755294, 19152186, 19758816, 20225197, 20825419, 21680174, 23059773, 25001183, 25504327, 28925100, 29427623		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	27511834		★☆☆☆☆ Found in Text Mining only
Osteoglophonic dwarfism	Osteoglosphonic dysplasia	BEFREE	31191213		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	18440723, 30629798		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	LHGDN	18440723		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	30629798	Associate	★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	19911196, 24413079, 29075785		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	12610509, 15368324, 20103664, 28591727, 36766725	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	11291931, 16482630, 19719950, 29434873		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasm	Pancreatic Neoplasm	LHGDN	15623620, 16525637, 17393109		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	16482630, 18349830, 20367641, 23651239, 30397360	Associate	★☆☆☆☆ Found in Text Mining only
Papillary thyroid carcinoma	Papillary thyroid carcinoma	BEFREE	10598188, 12915657, 16728574, 23845470, 29578160, 30136914, 30843635		★☆☆☆☆ Found in Text Mining only
Periodontitis	Periodontitis	BEFREE	28081372		★☆☆☆☆ Found in Text Mining only
Peritoneal Fibrosis	Peritoneal Fibrosis	BEFREE	30142879		★☆☆☆☆ Found in Text Mining only
Peritonitis	Peritonitis	Pubtator	12610509	Stimulate	★☆☆☆☆ Found in Text Mining only
Peritonitis	Peritonitis	Pubtator	15368324	Associate	★☆☆☆☆ Found in Text Mining only
Pituitary Neoplasms	Pituitary Neoplasms	LHGDN	18205092		★☆☆☆☆ Found in Text Mining only
Poikiloderma with Neutropenia	Poikiloderma With Neutropenia	BEFREE	21740802		★☆☆☆☆ Found in Text Mining only
Precursor Cell Lymphoblastic Leukemia Lymphoma	Lymphoblastic Leukemia	BEFREE	21732038		★☆☆☆☆ Found in Text Mining only
Primary intestinal lymphangiectasia	Intestinal lymphatic obstruction	BEFREE	25943403		★☆☆☆☆ Found in Text Mining only
Proliferative diabetic retinopathy	Proliferative Diabetic Retinopathy	BEFREE	31574534		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	15880525, 16267000, 17062674, 17583576, 18974119, 19638584, 20564320, 22911748, 24338711, 24858271, 27527525, 29601651, 30053596, 30317243		★☆☆☆☆ Found in Text Mining only
Prostatic Intraepithelial Neoplasia	Prostatic intraepithelial neoplasia	Pubtator	23679318	Associate	★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	LHGDN	15880525, 18773737, 18974119		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	BEFREE	16267000		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	16491267, 18974119, 19638584, 22911748, 23679318, 24858271, 30317243, 33509203, 34643549, 37942701	Associate	★☆☆☆☆ Found in Text Mining only
Pterygium	Pterygium	BEFREE	22801834, 22975656, 27314284		★☆☆☆☆ Found in Text Mining only
Pulmonary Arterial Hypertension	Pulmonary arterial hypertension	Pubtator	38506416	Associate	★☆☆☆☆ Found in Text Mining only
Rectal Carcinoma	Rectal Carcinoma	BEFREE	29552758		★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	11306510, 11846206, 30809300		★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal Diseases	BEFREE	25648699		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	11824968, 11824969, 17216674, 30863410, 31692815		★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	BEFREE	10488101, 19351758, 19671876, 22304008		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Sarcoma	Pubtator	22326461, 23227212	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma Ewing	Sarcoma	Pubtator	23227212	Stimulate	★☆☆☆☆ Found in Text Mining only
Sarcoma Kaposi	Sarcoma	Pubtator	10594750	Associate	★☆☆☆☆ Found in Text Mining only
Sjogren's Syndrome	Sjogren syndrome	Pubtator	26828975	Associate	★☆☆☆☆ Found in Text Mining only
Skin Diseases	Skin disease	Pubtator	35393522	Associate	★☆☆☆☆ Found in Text Mining only
Skin Neoplasms	Skin Neoplasms	HPO_DG			★☆☆☆☆ Found in Text Mining only
Small cell carcinoma of lung	Lung carcinoma	BEFREE	15364128, 22938476		★☆☆☆☆ Found in Text Mining only
Small Cell Lung Carcinoma	Small cell lung carcinoma	Pubtator	22938476	Associate	★☆☆☆☆ Found in Text Mining only
Specific learning disability	Specific Learning Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	LHGDN	14534690, 15151619, 15173661, 15240540, 16874878, 18295452		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	16525666, 20363046, 21111670, 21710490, 22502683, 22897688, 23593187, 24700287		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	16874878, 21482472, 21939555, 22057733, 22544356, 22644515, 22897688, 23125006, 23392734, 23604637, 24413079, 25212831, 25792082, 26439687, 27939650, 28927077, 29218108, 29800478, 30131072, 31824776		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	15272284, 17674352, 18616526, 18630523, 21936874, 22502683, 22952986, 23593187, 26824419, 30249886, 33096435, 33995379, 36203528, 36425786	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of skin	Skin carcinoma	BEFREE	20827282		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	15899807, 16278821, 20227330, 22952986		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Squamous cell carcinoma of tongue	Tongue carcinoma	BEFREE	25900716, 27666723, 28772283		★☆☆☆☆ Found in Text Mining only
Status Epilepticus	Status Epilepticus	BEFREE	31297012		★☆☆☆☆ Found in Text Mining only
Steroid Sulfatase Deficiency Disease	Steroid Sulfatase Deficiency Disease	BEFREE	19351758		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	11718224, 16004935, 16260857, 16344322, 17230534, 18068001, 18202713, 19010837, 22227171, 23475632, 23573305, 24716913, 25444928, 25521742, 26750536, 30971501		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach Neoplasms	LHGDN	14760756, 15756450, 17230534, 17409493, 17465468, 19117016		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	14760756, 15040017, 17409493, 17465468, 21272377, 21986134, 22808003, 23866030, 24716913, 24841138, 25884175, 26460960, 28275299, 29393383, 30971501, 33407483, 34895039	Associate	★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	31173290	Stimulate	★☆☆☆☆ Found in Text Mining only
Strawberry nevus of skin	Strawberry Nevus Of Skin	BEFREE	30323877		★☆☆☆☆ Found in Text Mining only
Stroke	Stroke	Pubtator	35673992	Associate	★☆☆☆☆ Found in Text Mining only
Synovitis	Synovitis	BEFREE	25889955		★☆☆☆☆ Found in Text Mining only
Synovitis	Synovitis	Pubtator	25889955, 31692815	Associate	★☆☆☆☆ Found in Text Mining only
Testicular Hydrocele	Testicular Hydrocele	HPO_DG			★☆☆☆☆ Found in Text Mining only
Thyroid Cancer Papillary	Papillary thyroid cancer	Pubtator	20306451	Stimulate	★☆☆☆☆ Found in Text Mining only
Thyroid Cancer Papillary	Papillary thyroid cancer	Pubtator	29578160	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid carcinoma	Thyroid Carcinoma	BEFREE	10598188, 12915657, 23845470, 29717026		★☆☆☆☆ Found in Text Mining only
Thyroid Diseases	Thyroid disease	Pubtator	20336393	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	BEFREE	10728593, 12915657, 29717026		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	LHGDN	12915657, 15870511, 16299237, 18652765, 19041000		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasms	Thyroid cancer	Pubtator	10595926, 20306451, 22641097	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasms	Thyroid cancer	Pubtator	26900960, 35313079	Stimulate	★☆☆☆☆ Found in Text Mining only
Thyroiditis Autoimmune	Thyroiditis	Pubtator	35865663	Associate	★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	23667446	Stimulate	★☆☆☆☆ Found in Text Mining only
Tuberous Sclerosis	Tuberous Sclerosis	BEFREE	21767323, 26798047		★☆☆☆☆ Found in Text Mining only
Tuberous Sclerosis	Tuberous sclerosis complex	Pubtator	21767323	Associate	★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	17094484, 22049531, 23111735, 23251617, 25658842, 28423532, 30358224, 30816487, 31650173	Associate	★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	23251617, 36434587	Stimulate	★☆☆☆☆ Found in Text Mining only
Uterine Cervical Dysplasia	Uterine disease	Pubtator	16394279	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	11437408, 15226772, 18629779, 19589137, 23963849, 24650367, 28923073, 31478352, 32826853, 34334630, 38211648, 38250152	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	12189553, 20429915, 29658350	Stimulate	★☆☆☆☆ Found in Text Mining only
Varicosity	Vulval varices	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ventricular Septal Defects	Ventricular septal defect	BEFREE	17625508		★☆☆☆☆ Found in Text Mining only