TEK (TEK receptor tyrosine kinase)

Gene

• Entrez ID: 7010
• Gene name: TEK receptor tyrosine kinase
• Gene symbol: TEK
• Synonyms (NCBI Gene): CD202B, GLC3E, TIE-2, TIE2, VMCM, VMCM1
• Chromosome: 9
• Chromosome location: 9p21.2
• Summary: This gene encodes a receptor that belongs to the protein tyrosine kinase Tie2 family. The encoded protein possesses a unique extracellular region that contains two immunoglobulin-like domains, three epidermal growth factor (EGF)-like domains and three fib

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs80338908	C>T	Pathogenic	Coding sequence variant, missense variant
rs80338909	A>C,G	Pathogenic	Coding sequence variant, missense variant
rs202131936	G>A,C,T	Likely-pathogenic	Missense variant, coding sequence variant
rs387906745	G>A	Pathogenic	Missense variant, coding sequence variant
rs541217363	C>A,T	Pathogenic	Synonymous variant, coding sequence variant, intron variant, stop gained
rs753021890	G>A,T	Pathogenic	Coding sequence variant, stop gained, missense variant
rs1587545234	A>G	Likely-pathogenic	Missense variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT006883	hsa-miR-126-3p	Luciferase reporter assay, qRT-PCR, Western blot	22867989
MIRT1417953	hsa-miR-19a	CLIP-seq
MIRT1417954	hsa-miR-19b	CLIP-seq
MIRT1417955	hsa-miR-548a-3p	CLIP-seq
MIRT1417956	hsa-miR-548e	CLIP-seq
MIRT1417957	hsa-miR-548f	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
ELF1	Activation	19674970
ELF2	Activation	10347098
GATA3	Activation	19674970

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0001525	Process	Angiogenesis	IBA
GO:0001525	Process	Angiogenesis	IEA
GO:0001525	Process	Angiogenesis	ISS
GO:0001725	Component	Stress fiber	IDA	18425119
GO:0001935	Process	Endothelial cell proliferation	IBA
GO:0001935	Process	Endothelial cell proliferation	ISS
GO:0001936	Process	Regulation of endothelial cell proliferation	IEA
GO:0001938	Process	Positive regulation of endothelial cell proliferation	TAS	18425120
GO:0002040	Process	Sprouting angiogenesis	IMP	14665640
GO:0004672	Function	Protein kinase activity	IEA
GO:0004672	Function	Protein kinase activity	TAS	8382358
GO:0004713	Function	Protein tyrosine kinase activity	IEA
GO:0004714	Function	Transmembrane receptor protein tyrosine kinase activity	IBA
GO:0004714	Function	Transmembrane receptor protein tyrosine kinase activity	IDA	11513602
GO:0004714	Function	Transmembrane receptor protein tyrosine kinase activity	IEA
GO:0004714	Function	Transmembrane receptor protein tyrosine kinase activity	TAS	8382358
GO:0005515	Function	Protein binding	IPI	8980223, 15893672, 15985432, 16732286, 19167335, 19451274, 19922791, 20708158, 28620713, 29106382
GO:0005524	Function	ATP binding	IEA
GO:0005576	Component	Extracellular region	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005813	Component	Centrosome	IDA
GO:0005856	Component	Cytoskeleton	IEA
GO:0005884	Component	Actin filament	IDA	18425119
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	19689429
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS	8382358
GO:0005902	Component	Microvillus	IDA	19424712
GO:0005911	Component	Cell-cell junction	IDA	18425120
GO:0005925	Component	Focal adhesion	IEA
GO:0007166	Process	Cell surface receptor signaling pathway	IMP	15985432
GO:0007169	Process	Cell surface receptor protein tyrosine kinase signaling pathway	IBA
GO:0007169	Process	Cell surface receptor protein tyrosine kinase signaling pathway	IDA	15284220
GO:0007169	Process	Cell surface receptor protein tyrosine kinase signaling pathway	IEA
GO:0007169	Process	Cell surface receptor protein tyrosine kinase signaling pathway	TAS	8980225
GO:0007267	Process	Cell-cell signaling	TAS	8980225
GO:0007507	Process	Heart development	ISS
GO:0009925	Component	Basal plasma membrane	IDA	18425120
GO:0009967	Process	Positive regulation of signal transduction	IEA
GO:0009986	Component	Cell surface	IDA	19689429
GO:0010595	Process	Positive regulation of endothelial cell migration	IBA
GO:0010595	Process	Positive regulation of endothelial cell migration	IDA	15284220
GO:0010595	Process	Positive regulation of endothelial cell migration	IMP	12816861, 18425120
GO:0016020	Component	Membrane	IEA
GO:0016301	Function	Kinase activity	IEA
GO:0016323	Component	Basolateral plasma membrane	IDA	19424712
GO:0016324	Component	Apical plasma membrane	IDA	19424712
GO:0016525	Process	Negative regulation of angiogenesis	IMP	18425120
GO:0016740	Function	Transferase activity	IEA
GO:0030097	Process	Hemopoiesis	IEA
GO:0030334	Process	Regulation of cell migration	IEA
GO:0031589	Process	Cell-substrate adhesion	IEA
GO:0032878	Process	Regulation of establishment or maintenance of cell polarity	IMP	18425119
GO:0034446	Process	Substrate adhesion-dependent cell spreading	IMP	18425119
GO:0035022	Process	Positive regulation of Rac protein signal transduction	IMP	12816861
GO:0035025	Process	Positive regulation of Rho protein signal transduction	IMP	12816861
GO:0036064	Component	Ciliary basal body	IDA
GO:0038023	Function	Signaling receptor activity	IEA
GO:0038023	Function	Signaling receptor activity	TAS	10766762
GO:0042802	Function	Identical protein binding	IPI	19424712
GO:0043066	Process	Negative regulation of apoptotic process	IEA
GO:0043066	Process	Negative regulation of apoptotic process	TAS	18366015
GO:0043114	Process	Regulation of vascular permeability	TAS	18366015, 18425120
GO:0043235	Component	Receptor complex	IBA
GO:0043410	Process	Positive regulation of MAPK cascade	IBA
GO:0043410	Process	Positive regulation of MAPK cascade	IMP	15985432
GO:0045121	Component	Membrane raft	IDA	19615361
GO:0045765	Process	Regulation of angiogenesis	IEA
GO:0045766	Process	Positive regulation of angiogenesis	IBA
GO:0045766	Process	Positive regulation of angiogenesis	IDA	15284220
GO:0045766	Process	Positive regulation of angiogenesis	IMP	18425120
GO:0045785	Process	Positive regulation of cell adhesion	IEA
GO:0048014	Process	Tie signaling pathway	IDA	15284220, 19223473
GO:0050728	Process	Negative regulation of inflammatory response	TAS	18366015
GO:0051240	Process	Positive regulation of multicellular organismal process	IEA
GO:0051894	Process	Positive regulation of focal adhesion assembly	IMP	18425120
GO:0051897	Process	Positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	IBA
GO:0051897	Process	Positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	IDA	19615361
GO:0051897	Process	Positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	IMP	18425120
GO:0060216	Process	Definitive hemopoiesis	TAS	18366015
GO:0060347	Process	Heart trabecula formation	ISS
GO:0070161	Component	Anchoring junction	IEA
GO:0070374	Process	Positive regulation of ERK1 and ERK2 cascade	IDA	19615361
GO:0070374	Process	Positive regulation of ERK1 and ERK2 cascade	IMP	18425120
GO:0071260	Process	Cellular response to mechanical stimulus	IMP	15985432
GO:0072012	Process	Glomerulus vasculature development	ISS
GO:1902531	Process	Regulation of intracellular signal transduction	IEA
GO:1902533	Process	Positive regulation of intracellular signal transduction	IMP	19223473
GO:2000351	Process	Regulation of endothelial cell apoptotic process	IEA
GO:2000351	Process	Regulation of endothelial cell apoptotic process	TAS	18425120
GO:2000352	Process	Negative regulation of endothelial cell apoptotic process	ISS

Other IDs

• MIM: 600221
• HGNC: 11724
• e!Ensembl: ENSG00000120156

Protein

• UniProt ID: Q02763
• Protein name: Angiopoietin-1 receptor (EC 2.7.10.1) (Endothelial tyrosine kinase) (Tunica interna endothelial cell kinase) (Tyrosine kinase with Ig and EGF homology domains-2) (Tyrosine-protein kinase receptor TEK) (Tyrosine-protein kinase receptor TIE-2) (hTIE2) (p140
• Protein function: Tyrosine-protein kinase that acts as a cell-surface receptor for ANGPT1, ANGPT2 and ANGPT4 and regulates angiogenesis, endothelial cell survival, proliferation, migration, adhesion and cell spreading, reorganization of the actin cytoskeleton, bu
• PDB: 1FVR, 2GY5, 2GY7, 2OO8, 2OSC, 2P4I, 2WQB, 3BEA, 3L8P, 4K0V, 4X3J, 5MYA, 5MYB, 5UTK, 6MWE, 7E72
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF10430	Ig_Tie2_1	24 → 118	Tie-2 Ig-like domain 1	Domain
  PF00041	fn3	445 → 530	Fibronectin type III domain	Domain
  PF00041	fn3	544 → 626	Fibronectin type III domain	Domain
  PF00041	fn3	640 → 724	Fibronectin type III domain	Domain
  PF07714	PK_Tyr_Ser-Thr	824 → 1092	Protein tyrosine and serine/threonine kinase	Domain

• Tissue specificity: TISSUE SPECIFICITY: Detected in umbilical vein endothelial cells. Proteolytic processing gives rise to a soluble extracellular domain that is detected in blood plasma (at protein level). Predominantly expressed in endothelial cells and their progenitors,
• Sequence:

  MDSLASLVLCGVSLLLSGTVEGAMDLILINSLPLVSDAETSLTCIASGWRPHEPITIGRD
  FEALMNQHQDPLEVTQDVTREWAKKVVWKREKASKINGAYFCEGRVRGEAIRIRTMKMRQ
  QASFLPATLTMTVDKGDNVNISFKKVLIKEEDAVIYKNGSFIHSVPRHEVPDILEVHLPH
  AQPQDAGVYSARYIGGNLFTSAFTRLIVRRCEAQKWGPECNHLCTACMNNGVCHEDTGEC
  ICPPGFMGRTCEKACELHTFGRTCKERCSGQEGCKSYVFCLPDPYGCSCATGWKGLQCNE
  ACHPGFYGPDCKLRCSCNNGEMCDRFQGCLCSPGWQGLQCEREGIQRMTPKIVDLPDHIE
  VNSGKFNPICKASGWPLPTNEEMTLVKPDGTVLHPKDFNHTDHFSVAIFTIHRILPPDSG
  VWVCSVNTVAGMVEKPFNISVKVLPKPLNAPNVIDTGHNFAVINISSEPYFGDGPIKSKK
  LLYKPVNHYEAWQHIQVTNEIVTLNYLEPRTEYELCVQLVRRGEGGEGHPGPVRRFTTAS
  IGLPPPRGLNLLPKSQTTLNLTWQPIFPSSEDDFYVEVERRSVQKSDQQNIKVPGNLTSV
  LLNNLHPREQYVVRARVNTKAQGEWSEDLTAWTLSDILPPQPENIKISNITHSSAVISWT
  ILDGYSISSITIRYKVQGKNEDQHVDVKIKNATITQYQLKGLEPETAYQVDIFAENNIGS
  SNPAFSHELVTLPESQAPADLGGGKMLLIAILGSAGMTCLTVLLAFLIILQLKRANVQRR
  MAQAFQNVREEPAVQFNSGTLALNRKVKNNPDPTIYPVLDWNDIKFQDVIGEGNFGQVLK
  ARIKKDGLRMDAAIKRMKEYASKDDHRDFAGELEVLCKLGHHPNIINLLGACEHRGYLYL
  AIEYAPHGNLLDFLRKSRVLETDPAFAIANSTASTLSSQQLLHFAADVARGMDYLSQKQF
  IHRDLAARNILVGENYVAKIADFGLSRGQEVYVKKTMGRLPVRWMAIESLNYSVYTTNSD
  VWSYGVLLWEIVSLGGTPYCGMTCAELYEKLPQGYRLEKPLNCDDEVYDLMRQCWREKPY
  ERPSFAQILVSLNRMLEERKTYVNTTLYEKFTYAGIDCSAEEAA

• Sequence length: 1124

Pathways

KEGG:

MAPK signaling pathway
Ras signaling pathway
Rap1 signaling pathway
HIF-1 signaling pathway
PI3K-Akt signaling pathway
Rheumatoid arthritis

Reactome:

Tie2 Signaling
RAF/MAP kinase cascade

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
Abnormal cardiovascular system morphology	Pathogenic; Likely pathogenic	rs80338908, rs80338909, rs1825682849, rs1825682922, rs1825683100, rs1826418572, rs1826462356, rs1826463406	RCV001327969 RCV001327971 RCV001327973 RCV001327970 RCV001327972 RCV001327975 RCV001327976 RCV001327977	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Blue rubber bleb nevus	Likely pathogenic; Pathogenic	rs80338909	RCV002254262 RCV005256493	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Bockenheimer syndrome	Pathogenic	rs1825682849	RCV001799752	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Glaucoma 3, primary congenital, E	Likely pathogenic; Pathogenic	rs1380793724, rs2131141182, rs2131266023, rs2131119729, rs1826003461, rs2490101786, rs2489010435, rs2489001347, rs2490102018, rs541217363, rs753021890, rs1587545234	RCV001807993 RCV001808096 RCV001808153 RCV001808179 RCV002251042 RCV003333379 RCV004555155 RCV004556151 RCV004556153 RCV000415569 RCV000415600 RCV000991222	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Multiple cutaneous and mucosal venous malformations	Likely pathogenic; Pathogenic	rs2131227936, rs80338908, rs80338909, rs2489035766, rs2489035762, rs2488989309, rs387906745, rs1825511679, rs1825682922, rs1825683100, rs1826418572, rs1826462356, rs1826463406	RCV003314035 RCV000009876 RCV000009877 RCV003445407 RCV004566492 RCV004566499 RCV000022955 RCV000022956 RCV001265074 RCV006446080 RCV003314000 RCV003449820 RCV003449821 RCV004562117	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Segmental undergrowth associated with venous malformation without capillary component	Likely pathogenic; Pathogenic	rs2131246743, rs2131246761, rs2131267771, rs80338908	RCV001706745 RCV001706746 RCV001706747 RCV001705587	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
TEK-related disorder	Pathogenic	rs80338908	RCV004754251	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Vascular malformation	Likely pathogenic; Pathogenic	rs2131267771, rs2131227936, rs2131267744, rs2489035766, rs1825682849, rs1825682922	RCV003458750 RCV003458850 RCV004565258 RCV005251362 RCV003458658 RCV005251261	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Venous malformation	Likely pathogenic	rs2131267739	RCV001533001	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ventricular septal defect	Pathogenic	rs80338909	RCV005256493	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ARTERIOVENOUS HEMANGIOMA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BLUE RUBBER BLEB NEVUS SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIAC EMBOLISM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOEMBOLIC STROKE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL ABNORMALITY OF VEIN	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL ARTERIOVENOUS MALFORMATION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL GLAUCOMA	—	GWAS catalog, Orphanet GWAS catalog, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPSY, TEMPORAL LOBE	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glaucoma 3, primary infantile, B	Conflicting classifications of pathogenicity	ClinVar CTD, ClinVar, Disgenet, HPO CTD, ClinVar, Disgenet, HPO CTD, ClinVar, Disgenet, HPO CTD, ClinVar, Disgenet, HPO	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
HEMANGIOSARCOMA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYDROPHTHALMOS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER NEOPLASMS, EXPERIMENTAL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MUCOCUTANEOUS VENOUS MALFORMATIONS	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neutropenia, severe congenital, 2, autosomal dominant	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PRIMARY CONGENITAL GLAUCOMA	—	Disgenet, GenCC Disgenet, GenCC	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VENTRICULAR SEPTAL DEFECTS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Abetalipoproteinemia	Abetalipoproteinemia	BEFREE	30626204		★☆☆☆☆ Found in Text Mining only
Acute Megakaryocytic Leukemias	Megakaryocytic Leukemia	BEFREE	9233584		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	17785951		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of large intestine	Colorectal Cancer	BEFREE	17785951		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of pancreas	Pancreatic adenocarcinoma	BEFREE	15501112, 30038715		★☆☆☆☆ Found in Text Mining only
alpha-Thalassemia	alpha Thalassemia	BEFREE	21515823		★☆☆☆☆ Found in Text Mining only
alpha^+^ Thalassemia	alpha Thalassemia	BEFREE	21515823		★☆☆☆☆ Found in Text Mining only
Alveolar capillary dysplasia	Alveolar capillary dysplasia	Pubtator	35649494	Associate	★☆☆☆☆ Found in Text Mining only
Anaplasia	Anaplasia	BEFREE	11915032		★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	BEFREE	31601784		★☆☆☆☆ Found in Text Mining only
Angioimmunoblastic Lymphadenopathy	Angioimmunoblastic T-cell lymphoma	BEFREE	19120365		★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	12628953, 28185955		★☆☆☆☆ Found in Text Mining only
Arteriovenous Malformations	Arteriovenous malformations	Pubtator	21962923	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	BEFREE	20547659, 22730375, 26947206, 29548992, 30188942, 31377797		★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	Pubtator	23982963	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis Psoriatic	Psoriatic arthritis	Pubtator	31864394	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	10913057, 21858161, 23982963, 24404127, 29843785	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	12010571	Stimulate	★☆☆☆☆ Found in Text Mining only
Arthritis, Psoriatic	Psoriatic Arthritis	BEFREE	22730375, 31377797		★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	27611488, 29667338		★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	Pubtator	27611488	Associate	★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	BEFREE	11304469		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	28185955		★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	19120365		★☆☆☆☆ Found in Text Mining only
Biliary Atresia	Biliary Atresia	BEFREE	24126820		★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	19088043		★☆☆☆☆ Found in Text Mining only
Blue rubber bleb nevus	Blue Rubber Bleb Nevus	Orphanet			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Blue rubber bleb nevus syndrome	Blue Rubber Bleb Nevus	BEFREE	16493543, 27519652, 28010758		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Blue rubber bleb nevus syndrome	Blue Rubber Bleb Nevus	ORPHANET_DG	27519652		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Blue rubber bleb nevus syndrome	Blue rubber bleb nevus syndrome	Pubtator	27519652, 28010758, 29465551, 39426903	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Brain Neoplasms	Brain Neoplasms	BEFREE	19421150, 21321379		★☆☆☆☆ Found in Text Mining only
Breast Cancer, Familial	Breast Cancer	BEFREE	23232696		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	10389945, 11027428, 11212228, 11309342, 12878859, 15026804, 20204292, 23832257, 26814432, 28838996, 29115538, 9671764		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	23232696, 23832257, 23981902, 28045923, 31619709, 37551622, 9459145	Associate	★☆☆☆☆ Found in Text Mining only
Capillary malformation (disorder)	Capillary malformation	BEFREE	15900153		★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	24404127	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	12434420		★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	14600132, 16830384	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	19088043		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	20651343, 31281470		★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	15198927, 30840266, 33761933	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Basal Cell	Carcinoma	BEFREE	10389945		★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	10729313, 12138242, 15047239, 20204292, 20865022, 24947924, 28498260, 28898232, 31076365		★☆☆☆☆ Found in Text Mining only
Cardiac defects	Cardiac Defects	BEFREE	23386621		★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Familial Idiopathic	Cardiomyopathy	BEFREE	12963640		★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Cerebral Infarction	BEFREE	30185785		★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	21515823, 21701128, 28219791, 29869055, 30909835		★☆☆☆☆ Found in Text Mining only
Cerebrovascular Disorders	Cerebrovascular disorder	Pubtator	38162654	Associate	★☆☆☆☆ Found in Text Mining only
Cerebrovascular Occlusion	Cerebrovascular Occlusion	BEFREE	31689239		★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	20204292		★☆☆☆☆ Found in Text Mining only
Childhood Acute Lymphoblastic Leukemia	Lymphoblastic Leukemia	BEFREE	30320932		★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	BEFREE	30042823		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic myeloproliferative disorder	Myeloproliferative disorder	BEFREE	14739366		★☆☆☆☆ Found in Text Mining only
Cirrhosis	Cirrhosis	BEFREE	28798084		★☆☆☆☆ Found in Text Mining only
Clear-cell metastatic renal cell carcinoma	Renal Carcinoma	BEFREE	12434420		★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	BEFREE	18514073, 27981571		★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	15705898, 23553997		★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	15742397	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	14768007, 16314485, 25374184, 31217905		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	22728324, 25374184, 31929743	Associate	★☆☆☆☆ Found in Text Mining only
Congenital abnormality of vein	Venous malformation	BEFREE	10364524, 11932989, 15672715, 18401423, 19079259, 19888299, 21962923, 22621187, 22913934, 23086340, 23633549, 24010650, 26258417, 26319232, 26637981, 28818232, 29046873, 29511374, 29668117, 29786783, 30626204, 30638931, 31451744, 8980225		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital abnormality of vein	Venous malformation	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital abnormality of vein	Venous malformation	GENOMICS_ENGLAND_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital arteriovenous malformation	Congenital Arteriovenous Malformation	BEFREE	11463715		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital arteriovenous malformation	Congenital Arteriovenous Malformation	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital atresia of extrahepatic bile duct	Extrahepatic Biliary Atresia	BEFREE	24126820		★☆☆☆☆ Found in Text Mining only
Congenital contractural arachnodactyly	Congenital Contractural Arachnodactyly	BEFREE	30042823		★☆☆☆☆ Found in Text Mining only
Congenital diaphragmatic hernia	Congenital diaphragmatic hernia	BEFREE	22917924		★☆☆☆☆ Found in Text Mining only
Congenital glaucoma	Congenital glaucoma	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital Heart Defects	Congenital heart defects	BEFREE	14739366, 31112136		★☆☆☆☆ Found in Text Mining only
Congenital keratoglobus	Congenital Keratoglobus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Conjunctivitis	Conjunctivitis	BEFREE	29667338		★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	29180874, 31582532		★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Corneal Neovascularization	Corneal Neovascularization	BEFREE	28831080		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	LHGDN	17322632		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary Artery Disease	Coronary artery disease	GWASCAT_DG	29212778		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Deep Vein Thrombosis	Thrombosis	BEFREE	29864786		★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	12010571		★☆☆☆☆ Found in Text Mining only
Dermatitis	Dermatitis	BEFREE	28951241		★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	30054947, 31102457		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	20497976, 30054947, 31102457		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	35549955	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	23577111, 28219791, 31102457		★☆☆☆☆ Found in Text Mining only
Diabetic Retinopathy	Diabetic Retinopathy	BEFREE	28508859, 28950253, 29259905		★☆☆☆☆ Found in Text Mining only
Diabetic Retinopathy	Diabetic retinopathy	Pubtator	37249455	Associate	★☆☆☆☆ Found in Text Mining only
Disseminated Intravascular Coagulation	Disseminated Intravascular Coagulation	BEFREE	29360642		★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	20204292		★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	BEFREE	16723371		★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	LHGDN	16723371		★☆☆☆☆ Found in Text Mining only
Epilepsy, Benign Psychomotor, Childhood	Epilepsy	CTD_human_DG	17533168		★☆☆☆☆ Found in Text Mining only
Epilepsy, Lateral Temporal	Epilepsy	CTD_human_DG	17533168		★☆☆☆☆ Found in Text Mining only
Epilepsy, Temporal Lobe	Epilepsy	CTD_human_DG	17533168		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epithelial ovarian cancer	Ovarian cancer	BEFREE	15047239, 28898232		★☆☆☆☆ Found in Text Mining only
Exudative age-related macular degeneration	Exudative Macular Degeneration	BEFREE	30788433, 31513439		★☆☆☆☆ Found in Text Mining only
Fibroid Tumor	Leiomyoma	LHGDN	17724803		★☆☆☆☆ Found in Text Mining only
Fibrosarcoma	Fibrosarcoma	BEFREE	30443492, 8527480		★☆☆☆☆ Found in Text Mining only
Gastric ulcer	Gastric ulcer	BEFREE	12679933		★☆☆☆☆ Found in Text Mining only
Gastro-enteropancreatic neuroendocrine tumor	Digestive system neuroendocrine neoplasm	BEFREE	20696814		★☆☆☆☆ Found in Text Mining only
Gastrointestinal Stromal Tumors	Gastrointestinal stromal tumor	LHGDN	17724803		★☆☆☆☆ Found in Text Mining only
Gastrointestinal Stromal Tumors	Gastrointestinal stromal tumor	Pubtator	17724803	Associate	★☆☆☆☆ Found in Text Mining only
Giant Cell Tumor of Tendon Sheath	Giant cell tumor of tendon sheath	Pubtator	33727696	Associate	★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	BEFREE	28920924, 29845210		★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	Pubtator	35144644	Associate	★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glaucoma 3 Primary Congenital A	Glaucoma	Pubtator	28620713, 35094026, 39337513	Associate	★☆☆☆☆ Found in Text Mining only
GLAUCOMA 3, PRIMARY CONGENITAL, E	Glaucoma	UNIPROT_DG	27270174		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
GLAUCOMA 3, PRIMARY CONGENITAL, E	Glaucoma	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
GLAUCOMA 3, PRIMARY CONGENITAL, E	Glaucoma	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
GLAUCOMA 3, PRIMARY INFANTILE, B	Glaucoma	CTD_human_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Glaucoma Open Angle	Open angle glaucoma	Pubtator	37340071	Associate	★☆☆☆☆ Found in Text Mining only
Glaucoma, Primary Open Angle	Glaucoma	BEFREE	28920924		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	17189382	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	27787897, 28760776, 31659157		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	20823154, 27787897, 28760776		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	17189382, 17704802, 19421150, 20020177, 21321379, 28233371		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	17189382, 19421150, 27757426	Associate	★☆☆☆☆ Found in Text Mining only
GLOMUVENOUS MALFORMATIONS	Glomuvenous Malformation	BEFREE	22407726		★☆☆☆☆ Found in Text Mining only
Glycosuria Renal	Renal glycosuria	Pubtator	15198927	Associate	★☆☆☆☆ Found in Text Mining only
Growth Disorders	Growth disorder	Pubtator	10854239	Associate	★☆☆☆☆ Found in Text Mining only
Heart Failure	Heart failure	Pubtator	37798313	Associate	★☆☆☆☆ Found in Text Mining only
Hemangioblastoma	Hemangioblastoma	BEFREE	28041961		★☆☆☆☆ Found in Text Mining only
Hemangioma	Hemangioma	BEFREE	11733376, 16741507, 22996814, 26115772, 26308070		★☆☆☆☆ Found in Text Mining only
Hemangioma	Hemangioma	LHGDN	11733376		★☆☆☆☆ Found in Text Mining only
Hemangioma capillary infantile	Capillary infantile hemangioma	Pubtator	21962923	Associate	★☆☆☆☆ Found in Text Mining only
Hemangioma, Cavernous	Hemangioma, Cavernous	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hemangioma, Intramuscular	Hemangioma	BEFREE	15377998, 22996814		★☆☆☆☆ Found in Text Mining only
Hemangiomatosis	Hemangiomatosis	BEFREE	16493543		★☆☆☆☆ Found in Text Mining only
Hemangiosarcoma	Hemangiosarcoma	Pubtator	10854238, 20949568, 23558570, 25672915	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hemangiosarcoma	Hemangiosarcoma	BEFREE	15377998		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hemangiosarcoma	Hemangiosarcoma	CTD_human_DG	17569031		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hematological Disease	Hematological Disease	BEFREE	14739366		★☆☆☆☆ Found in Text Mining only
Hemolysis	Hemolysis	Pubtator	16681647	Associate	★☆☆☆☆ Found in Text Mining only
Hydrophthalmos	Glaucoma, congenital	ORPHANET_DG	27270174		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperemia	Hyperemia	BEFREE	28328948, 30188942		★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	BEFREE	31346222, 31828164		★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	Pubtator	31828164	Associate	★☆☆☆☆ Found in Text Mining only
Hyperinsulinism	Hyperinsulinism	BEFREE	31412315		★☆☆☆☆ Found in Text Mining only
Hypertension Pulmonary	Pulmonary hypertension	Pubtator	12571257	Associate	★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	12571257		★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	15198927	Associate	★☆☆☆☆ Found in Text Mining only
Hypoxic-Ischemic Encephalopathy	Hypoxic-Ischemic Encephalopathy	BEFREE	22526623		★☆☆☆☆ Found in Text Mining only
Idiopathic pulmonary arterial hypertension	Pulmonary arterial hypertension	BEFREE	16373885		★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	21042788		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	21945322		★☆☆☆☆ Found in Text Mining only
Inflammatory dermatosis	Dermatitis	BEFREE	28951241		★☆☆☆☆ Found in Text Mining only
Intervertebral Disc Degeneration	Intervertebral disc disease	Pubtator	33946902, 38069038	Associate	★☆☆☆☆ Found in Text Mining only
Intestinal Volvulus	Intestinal Volvulus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Intracranial Arteriovenous Malformations	Intracranial arteriovenous malformation	Pubtator	11463715	Associate	★☆☆☆☆ Found in Text Mining only
Intrahepatic Cholestasis	Intrahepatic Cholestasis	BEFREE	24126820		★☆☆☆☆ Found in Text Mining only
Iron-Refractory Iron Deficiency Anemia	Anemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ischemic Attack Transient	Transient ischemic attack	Pubtator	39919905	Associate	★☆☆☆☆ Found in Text Mining only
Ischemic cardiomyopathy	Ischemic myocardial dysfunction	BEFREE	12963640		★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	BEFREE	31689239		★☆☆☆☆ Found in Text Mining only
Juvenile Myelomonocytic Leukemia	Myelomonocytic Leukemia	BEFREE	14739366		★☆☆☆☆ Found in Text Mining only
Kaposi Sarcoma	Kaposi Sarcoma	BEFREE	15705898		★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	11755466, 17189382		★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	LHGDN	15297853		★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	17189382, 30320932, 30840266	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	11755466, 16956819, 17446561, 19036083		★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	CLINVAR_DG	19340004		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	11915032, 12017318, 12717391, 14600132, 15094228, 16830384, 28555943, 28902891		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	LHGDN	16830384		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver Cirrhosis	BEFREE	28798084		★☆☆☆☆ Found in Text Mining only
Lung Diseases	Lung disease	Pubtator	20348277	Associate	★☆☆☆☆ Found in Text Mining only
Lung diseases	Lung Diseases	BEFREE	21042788		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	38162654	Associate	★☆☆☆☆ Found in Text Mining only
Lymphangioma	Lymphangioma	BEFREE	16493543		★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	25374184	Stimulate	★☆☆☆☆ Found in Text Mining only
Lymphedema	Lymphedema	Pubtator	21962923, 26637981	Associate	★☆☆☆☆ Found in Text Mining only
Malignant Glioma	Glioma	BEFREE	17189382, 19421150		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	10389945, 11027428, 11212228, 11309342, 15026804, 23832257, 26814432, 28838996, 29115538		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of endometrium	Endometrial Cancer	BEFREE	20204292		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	20651343, 31281470		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	10729313, 12138242, 20204292, 20865022, 24947924, 28498260, 31076365		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	25978029, 28586644, 30866453		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	16614513, 21720740		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of thyroid	Thyroid cancer	BEFREE	17189382		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	19088043		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	11280779, 11915032, 16314485, 16978237, 19421150, 20651343, 23643942, 28422724, 28679654, 28838996, 29849805, 30038715, 30806847, 31305525		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	23553997		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	11309342, 23649001, 30986342		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	10397264, 15928093, 16314485, 19276184, 9671764		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	35935946	Associate	★☆☆☆☆ Found in Text Mining only
Mesothelioma	Mesothelioma	BEFREE	29774102		★☆☆☆☆ Found in Text Mining only
Mesothelioma Malignant	Mesothelioma	Pubtator	27509983	Associate	★☆☆☆☆ Found in Text Mining only
Microvascular Angina	Microvascular angina	Pubtator	34966385	Associate	★☆☆☆☆ Found in Text Mining only
Monocytosis	Monocytosis	BEFREE	28951241		★☆☆☆☆ Found in Text Mining only
Mouth Abnormalities	Mouth Abnormalities	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mucocutaneous venous malformations	Mucocutaneous Venous Malformations	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Multiple Myeloma	Multiple myeloma	Pubtator	12649156	Associate	★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	BEFREE	21878936, 25480830		★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia	Myeloid Leukemia	BEFREE	11755466		★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia, Chronic	Myeloid Leukemia	BEFREE	11755466		★☆☆☆☆ Found in Text Mining only
Myeloproliferative disease	Myeloproliferative disorder	BEFREE	11755466, 14739366		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	10397264, 10969034, 11304469, 11309342, 11915032, 12434420, 12740570, 14985112, 15015569, 15781448, 15928093, 16169279, 16169466, 16314485, 17189382, 17235351, 17513791, 18330476, 18380795, 18835032, 19082480, 19088043, 19276184, 19421150, 19487284, 20179680, 20530679, 20631066, 20696814, 20924115, 21233403, 21321379, 22327175, 22531600, 22551928, 23643942, 23649001, 24615277, 25143028, 25176420, 25776770, 26267536, 26269531, 26814432, 27353038, 27787897, 28369068, 28387902, 28507810, 28720059, 29180874, 29382395, 29774102, 29849805, 30405103, 30806847, 30953637, 30986342, 31217905, 9671764, 9811337		★☆☆☆☆ Found in Text Mining only
Neurilemmoma	Neurilemmoma	LHGDN	17724803		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	19711348		★☆☆☆☆ Found in Text Mining only
Neuroendocrine Tumors	Neuroendocrine Tumors	BEFREE	15501112, 20696814, 28838996		★☆☆☆☆ Found in Text Mining only
Neuromyelitis Optica	Neuromyelitis Optica	BEFREE	31849648		★☆☆☆☆ Found in Text Mining only
Neutrophilia (disorder)	Neutrophilia	BEFREE	24813055, 28951241		★☆☆☆☆ Found in Text Mining only
Non-alcoholic Fatty Liver Disease	Non-Alcoholic Fatty Liver Disease	BEFREE	25389366, 30259536		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	10499626, 26701724		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	28474375, 28852070		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	31640116	Associate	★☆☆☆☆ Found in Text Mining only
Ocular Hypertension	Ocular Hypertension	HPO_DG			★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	12010571	Stimulate	★☆☆☆☆ Found in Text Mining only
Osteoglophonic dwarfism	Osteoglosphonic dysplasia	BEFREE	30185785		★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	10729313, 12138242, 20204292, 20865022, 24947924, 28498260, 31076365		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	33151982, 33713666	Associate	★☆☆☆☆ Found in Text Mining only
Ovarian Serous Adenocarcinoma	Ovarian serous adenocarcinoma	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	29221165		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasm	Pancreatic Neoplasm	BEFREE	15501112		★☆☆☆☆ Found in Text Mining only
Papillary thyroid carcinoma	Papillary thyroid carcinoma	BEFREE	16712675, 29387247		★☆☆☆☆ Found in Text Mining only
Peripheral Arterial Diseases	Vascular Diseases	BEFREE	28473248		★☆☆☆☆ Found in Text Mining only
Peripheral T-Cell Lymphoma	T-Cell Lymphoma	BEFREE	19120365		★☆☆☆☆ Found in Text Mining only
Port-Wine Stain	Phakomatosis pigmentovascularis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Primary congenital glaucoma	Congenital glaucoma	BEFREE	27270174, 28549150, 28620713, 29106382, 30318913, 31621585		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Primary congenital glaucoma	Congenital glaucoma	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostate carcinoma	Prostate cancer	BEFREE	25978029, 28586644, 30866453		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	BEFREE	16169279, 25978029		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	30866453, 33995654	Associate	★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	Pubtator	11348459	Associate	★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	BEFREE	15743796, 19342373, 21483750, 25351201, 26223654, 28063039, 28894119		★☆☆☆☆ Found in Text Mining only
Renal carcinoma	Renal Carcinoma	BEFREE	15198927		★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	12434420, 15198927, 30806847, 31582532		★☆☆☆☆ Found in Text Mining only
Respiratory Distress Syndrome, Adult	Respiratory Distress Syndrome	BEFREE	23652985, 29477144		★☆☆☆☆ Found in Text Mining only
Retinal Detachment	Retinal Detachment	HPO_DG			★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal Diseases	BEFREE	24416337		★☆☆☆☆ Found in Text Mining only
Retinopathy of Prematurity	Retinopathy	BEFREE	29857790, 31258697		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	12010571, 22730375, 24404127, 26947206, 29843785, 31377797		★☆☆☆☆ Found in Text Mining only
Right Ventricular Hypertrophy	Ventricular hypertrophy	BEFREE	19801450		★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	BEFREE	15705898, 19036083		★☆☆☆☆ Found in Text Mining only
Sarcoma Kaposi	Sarcoma	Pubtator	10854238	Associate	★☆☆☆☆ Found in Text Mining only
Secondary malignant neoplasm of colon and/or rectum	Colorectal Neoplasms	BEFREE	30405103		★☆☆☆☆ Found in Text Mining only
Septicemia	Septicemia	BEFREE	18310225, 21531574, 23171759, 23563632, 23652985, 24401906, 27099172, 28538018, 29132435, 29447449, 29571293, 29740443, 29979219, 31493777		★☆☆☆☆ Found in Text Mining only
Severe Combined Immunodeficiency	Severe combined immunodeficiency disease	BEFREE	21030485		★☆☆☆☆ Found in Text Mining only
Sick Sinus Syndrome	Sick sinus syndrome	Pubtator	15026804	Associate	★☆☆☆☆ Found in Text Mining only
Skin lesion	Skin Lesion	BEFREE	21483750		★☆☆☆☆ Found in Text Mining only
Sleep Apnea, Obstructive	Sleep Apnea	BEFREE	28474375		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	28369068		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	30840266	Associate	★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	16614513, 21720740		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach Neoplasms	LHGDN	16614513		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	16614513, 17189382, 22449617, 30840266	Associate	★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach Neoplasms	BEFREE	29849805		★☆☆☆☆ Found in Text Mining only
Stroke	Stroke	Pubtator	19292924, 21515823	Associate	★☆☆☆☆ Found in Text Mining only
Sturge-Weber Syndrome	Sturge-Weber Syndrome	BEFREE	17204940		★☆☆☆☆ Found in Text Mining only
Systemic Scleroderma	Scleroderma	BEFREE	28545512		★☆☆☆☆ Found in Text Mining only
Thyroid carcinoma	Thyroid Carcinoma	BEFREE	17189382		★☆☆☆☆ Found in Text Mining only
Uncinate Epilepsy	Epilepsy	CTD_human_DG	17533168		★☆☆☆☆ Found in Text Mining only
Uremia	Uremia	BEFREE	31632561		★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular Diseases	BEFREE	22917924, 28545512, 30943774		★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular disease	Pubtator	31451744, 34506304, 38162654	Associate	★☆☆☆☆ Found in Text Mining only
Vascular Malformations	Vascular malformation	Pubtator	10854239, 21962923, 28010758, 37380669	Associate	★☆☆☆☆ Found in Text Mining only
Venous malformation	Venous malformation	BEFREE	10364524, 11932989, 15672715, 18401423, 19079259, 19888299, 21962923, 22621187, 22913934, 23086340, 23633549, 24010650, 26258417, 26319232, 26637981, 28818232, 29046873, 29511374, 29668117, 29786783, 30626204, 30638931, 31451744, 8980225		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Venous malformation	Venous malformation	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Venous malformation	Venous malformation	GENOMICS_ENGLAND_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Venous Malformations Multiple Cutaneous and Mucosal	Venous malformation	Pubtator	10364524, 18401423, 19079259, 21962923, 23633549, 26637981, 27519652, 28316284, 31451744, 32867785, 35426265, 37658401, 38367816	Associate	★☆☆☆☆ Found in Text Mining only
VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	Venous malformation	GENOMICS_ENGLAND_DG	10369874, 27519652		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	Venous malformation	UNIPROT_DG	10369874, 19079259, 19888299, 8980225		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	Venous malformation	BEFREE	16379592, 19888299, 22621187		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	Venous malformation	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	Venous malformation	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Visceral angiomatosis	Visceral angiomatosis	HPO_DG			★☆☆☆☆ Found in Text Mining only