MERTK (MER proto-oncogene, tyrosine kinase)

Gene

• Entrez ID: 10461
• Gene name: MER proto-oncogene, tyrosine kinase
• Gene symbol: MERTK
• Synonyms (NCBI Gene): MER, RP38, Tyro12, c-Eyk, c-mer
• Chromosome: 2
• Chromosome location: 2q13
• Summary: This gene is a member of the MER/AXL/TYRO3 receptor kinase family and encodes a transmembrane protein with two fibronectin type-III domains, two Ig-like C2-type (immunoglobulin-like) domains, and one tyrosine kinase domain. Mutations in this gene have bee

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs2230516	C>A,T	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, missense variant
rs119489105	C>T	Pathogenic	Stop gained, coding sequence variant
rs142985827	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs371956016	G>T	Pathogenic	Splice donor variant
rs373198570	C>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Intron variant
rs387907314	C>T	Pathogenic	Coding sequence variant, stop gained
rs527236083	A>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs527236084	G>A	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs527236134	C>T	Likely-pathogenic	Coding sequence variant, stop gained
rs541717028	C>T	Pathogenic	Coding sequence variant, stop gained
rs730880273	A>G	Pathogenic	Splice acceptor variant
rs746238212	C>A,G,T	Likely-pathogenic	Missense variant, synonymous variant, coding sequence variant, stop gained
rs746291728	C>A,T	Pathogenic	Missense variant, coding sequence variant
rs772421550	C>G	Likely-pathogenic	Coding sequence variant, missense variant
rs774577413	G>A,C	Likely-pathogenic, pathogenic	Splice donor variant
rs778005207	A>C,G	Likely-pathogenic	Missense variant, coding sequence variant
rs778383770	C>G,T	Likely-pathogenic	Missense variant, coding sequence variant
rs786205533	A>T	Likely-pathogenic	Coding sequence variant, stop gained
rs786205534	T>G	Likely-pathogenic	Splice donor variant
rs786205535	C>G	Likely-pathogenic	Coding sequence variant, stop gained
rs863224894	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs878853354	G>A	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs878853355	CTC>TT	Likely-pathogenic	Frameshift variant, coding sequence variant
rs886039422	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs1309140887	G>A,C	Pathogenic	Splice donor variant
rs1553449458	G>T	Likely-pathogenic	Splice acceptor variant
rs1553454799	G>A	Likely-pathogenic	Intron variant
rs1553458060	C>T	Likely-pathogenic	Stop gained, coding sequence variant
rs1573554264	G>A	Pathogenic	Splice donor variant
rs1573592033	G>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1573592124	G>A	Likely-pathogenic	Splice donor variant
rs1573607809	G>A	Likely-pathogenic	Splice donor variant
rs1573613491	CA>-	Pathogenic	Coding sequence variant, frameshift variant
rs1573627154	T>G	Likely-pathogenic	Splice donor variant
rs1573638426	AGGAC>-	Pathogenic	Coding sequence variant, frameshift variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT002429	hsa-miR-335-5p	Review	19935707
MIRT002429	hsa-miR-335-5p	Luciferase reporter assay, Microarray	18185580
MIRT006545	hsa-miR-126-3p	ELISA, Flow, Immunohistochemistry, Luciferase reporter assay, Microarray, qRT-PCR, Western blot	22170610
MIRT006545	hsa-miR-126-3p	ELISA, Flow, Immunohistochemistry, Luciferase reporter assay, Microarray, qRT-PCR, Western blot	22170610
MIRT006545	hsa-miR-126-3p	ELISA, Flow, Immunohistochemistry, Luciferase reporter assay, Microarray, qRT-PCR, Western blot	22170610
MIRT002429	hsa-miR-335-5p	Microarray;Other	18185580
MIRT031965	hsa-miR-16-5p	Proteomics	18668040
MIRT006545	hsa-miR-126-3p	Microarray, qRT-PCR	35816043
MIRT1143064	hsa-miR-181a	CLIP-seq
MIRT1143065	hsa-miR-181b	CLIP-seq
MIRT1143066	hsa-miR-181c	CLIP-seq
MIRT1143067	hsa-miR-181d	CLIP-seq
MIRT1143068	hsa-miR-3907	CLIP-seq
MIRT1143069	hsa-miR-4260	CLIP-seq
MIRT1143070	hsa-miR-4262	CLIP-seq
MIRT1143071	hsa-miR-4299	CLIP-seq
MIRT1143072	hsa-miR-4456	CLIP-seq
MIRT1143073	hsa-miR-543	CLIP-seq
MIRT1143074	hsa-miR-548q	CLIP-seq
MIRT1143064	hsa-miR-181a	CLIP-seq
MIRT1143065	hsa-miR-181b	CLIP-seq
MIRT1143066	hsa-miR-181c	CLIP-seq
MIRT1143067	hsa-miR-181d	CLIP-seq
MIRT2270426	hsa-miR-2277-3p	CLIP-seq
MIRT2270427	hsa-miR-3614-5p	CLIP-seq
MIRT2270428	hsa-miR-362-5p	CLIP-seq
MIRT2270429	hsa-miR-3691-3p	CLIP-seq
MIRT1143068	hsa-miR-3907	CLIP-seq
MIRT1143069	hsa-miR-4260	CLIP-seq
MIRT1143070	hsa-miR-4262	CLIP-seq
MIRT1143071	hsa-miR-4299	CLIP-seq
MIRT1143072	hsa-miR-4456	CLIP-seq
MIRT2270430	hsa-miR-4480	CLIP-seq
MIRT2270431	hsa-miR-4643	CLIP-seq
MIRT2270432	hsa-miR-4653-3p	CLIP-seq
MIRT2270433	hsa-miR-466	CLIP-seq
MIRT2270434	hsa-miR-4786-3p	CLIP-seq
MIRT2270435	hsa-miR-4789-3p	CLIP-seq
MIRT2270436	hsa-miR-4789-5p	CLIP-seq
MIRT2270437	hsa-miR-500b	CLIP-seq
MIRT2270438	hsa-miR-501-5p	CLIP-seq
MIRT2270439	hsa-miR-511	CLIP-seq
MIRT1143073	hsa-miR-543	CLIP-seq
MIRT1143074	hsa-miR-548q	CLIP-seq
MIRT2270440	hsa-miR-587	CLIP-seq
MIRT2390814	hsa-miR-2053	CLIP-seq
MIRT2390815	hsa-miR-3664-5p	CLIP-seq
MIRT2390816	hsa-miR-569	CLIP-seq
MIRT2390817	hsa-miR-889	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0001750	Component	Photoreceptor outer segment	IEA
GO:0001779	Process	Natural killer cell differentiation	IEA
GO:0001818	Process	Negative regulation of cytokine production	IEA
GO:0004672	Function	Protein kinase activity	IEA
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	IEA
GO:0004714	Function	Transmembrane receptor protein tyrosine kinase activity	TAS	8086340
GO:0005515	Function	Protein binding	IPI	20103767
GO:0005524	Function	ATP binding	IEA
GO:0005615	Component	Extracellular space	IDA	18395422
GO:0005737	Component	Cytoplasm	IDA	18395422, 19204785
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS	8086340
GO:0006468	Process	Protein phosphorylation	TAS	8086340
GO:0006909	Process	Phagocytosis	IBA
GO:0006909	Process	Phagocytosis	IEA
GO:0006909	Process	Phagocytosis	IMP	19204785
GO:0007166	Process	Cell surface receptor signaling pathway	TAS	8086340
GO:0007169	Process	Cell surface receptor protein tyrosine kinase signaling pathway	IBA
GO:0007267	Process	Cell-cell signaling	TAS	8086340
GO:0007283	Process	Spermatogenesis	IEA
GO:0007399	Process	Nervous system development	IBA
GO:0016020	Component	Membrane	IEA
GO:0016301	Function	Kinase activity	IEA
GO:0016477	Process	Cell migration	IBA
GO:0016740	Function	Transferase activity	IEA
GO:0030168	Process	Platelet activation	IEA
GO:0032940	Process	Secretion by cell	IEA
GO:0034446	Process	Substrate adhesion-dependent cell spreading	IEA
GO:0043235	Component	Receptor complex	IBA
GO:0043277	Process	Apoptotic cell clearance	IEA
GO:0046649	Process	Lymphocyte activation	IEA
GO:0050766	Process	Positive regulation of phagocytosis	IDA	18395422
GO:0050766	Process	Positive regulation of phagocytosis	IEA
GO:0051250	Process	Negative regulation of lymphocyte activation	IEA
GO:0051649	Process	Establishment of localization in cell	IEA
GO:0051897	Process	Positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	IEA
GO:0060041	Process	Retina development in camera-type eye	IEA
GO:0060068	Process	Vagina development	IEA
GO:0097350	Process	Neutrophil clearance	IEA
GO:2000107	Process	Negative regulation of leukocyte apoptotic process	IMP	23353780

Other IDs

• MIM: 604705
• HGNC: 7027
• e!Ensembl: ENSG00000153208

Protein

• UniProt ID: Q12866
• Protein name: Tyrosine-protein kinase Mer (EC 2.7.10.1) (Proto-oncogene c-Mer) (Receptor tyrosine kinase MerTK)
• Protein function: Receptor tyrosine kinase that transduces signals from the extracellular matrix into the cytoplasm by binding to several ligands including LGALS3, TUB, TULP1 or GAS6. Regulates many physiological processes including cell survival, migration, diff
• PDB: 2DBJ, 2P0C, 3BPR, 3BRB, 3TCP, 4M3Q, 4MH7, 4MHA, 5K0K, 5K0X, 5TC0, 5TD2, 5U6C, 6MEP, 7AAX, 7AAY, 7AAZ, 7AB0, 7AB1, 7AB2, 7AVX, 7AVY, 7AVZ, 7AW0, 7AW1, 7AW2, 7AW3, 7AW4, 7CQE, 7DXL, 7M5Z, 7OAM, 7OLS, 7OLV, 7OLX, 7XHY, 9BHI, 9BHJ, 9BHK
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00047	ig	102 → 187	Immunoglobulin domain	Domain
  PF13927	Ig_3	197 → 266		Domain
  PF00041	fn3	285 → 371	Fibronectin type III domain	Domain
  PF07714	PK_Tyr_Ser-Thr	587 → 854	Protein tyrosine and serine/threonine kinase	Domain

• Tissue specificity: TISSUE SPECIFICITY: Not expressed in normal B- and T-lymphocytes but is expressed in numerous neoplastic B- and T-cell lines. Highly expressed in testis, ovary, prostate, lung, and kidney, with lower expression in spleen, small intestine, colon, and liver
• Sequence:

  MGPAPLPLLLGLFLPALWRRAITEAREEAKPYPLFPGPFPGSLQTDHTPLLSLPHASGYQ
  PALMFSPTQPGRPHTGNVAIPQVTSVESKPLPPLAFKHTVGHIILSEHKGVKFNCSISVP
  NIYQDTTISWWKDGKELLGAHHAITQFYPDDEVTAIIASFSITSVQRSDNGSYICKMKIN
  NEEIVSDPIYIEVQGLPHFTKQPESMNVTRNTAFNLTCQAVGPPEPVNIFWVQNSSRVNE
  QPEKSPSVLTVPGLTEMAVFSCEAHNDKGLTVSKGVQINIKAIPSPPTEVSIRNSTAHSI
  LISWVPGFDGYSPFRNCSIQVKEADPLSNGSVMIFNTSALPHLYQIKQLQALANYSIGVS
  CMNEIGWSAVSPWILASTTEGAPSVAPLNVTVFLNESSDNVDIRWMKPPTKQQDGELVGY
  RISHVWQSAGISKELLEEVGQNGSRARISVQVHNATCTVRIAAVTRGGVGPFSDPVKIFI
  PAHGWVDYAPSSTPAPGNADPVLIIFGCFCGFILIGLILYISLAIRKRVQETKFGNAFTE
  EDSELVVNYIAKKSFCRRAIELTLHSLGVSEELQNKLEDVVIDRNLLILGKILGEGEFGS
  VMEGNLKQEDGTSLKVAVKTMKLDNSSQREIEEFLSEAACMKDFSHPNVIRLLGVCIEMS
  SQGIPKPMVILPFMKYGDLHTYLLYSRLETGPKHIPLQTLLKFMVDIALGMEYLSNRNFL
  HRDLAARNCMLRDDMTVCVADFGLSKKIYSGDYYRQGRIAKMPVKWIAIESLADRVYTSK
  SDVWAFGVTMWEIATRGMTPYPGVQNHEMYDYLLHGHRLKQPEDCLDELYEIMYSCWRTD
  PLDRPTFSVLRLQLEKLLESLPDVRNQADVIYVNTQLLESSEGLAQGSTLAPLDLNIDPD
  SIIASCTPRAAISVVTAEVHDSKPHEGRYILNGGSEEWEDLTSAPSAAVTAEKNSVLPGE
  RLVRNGVSWSHSSMLPLGSSLPDELLFADDSSEGSEVLM

• Sequence length: 999

Pathways

KEGG:

Efferocytosis

Reactome:

Cell surface interactions at the vascular wall

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
Autosomal recessive retinitis pigmentosa	Pathogenic; Likely pathogenic	rs890258715, rs786205533, rs786205534, rs786205535, rs119489105, rs371956016, rs886039422, rs387907314, rs776644374, rs1676689811, rs1677065097, rs911057284	RCV003108009 RCV001257798 RCV001257900 RCV001257796 RCV001257901 RCV001257903 RCV001257795 RCV001257797 RCV001257898 RCV001257899 RCV001257902 RCV001257904	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Clear cell carcinoma of kidney	Pathogenic	rs371956016	RCV005887321	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
MERTK-related disorder	Likely pathogenic; Pathogenic	rs772421550, rs1573613491	RCV004756037 RCV003413772	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ovarian serous cystadenocarcinoma	Likely pathogenic; Pathogenic	rs774577413	RCV005912254	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Retinal disorder	Pathogenic	rs1676904823	RCV006272091	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Retinal dystrophy	Pathogenic; Likely pathogenic	rs1187387547, rs527236083, rs890258715, rs730880273, rs119489105, rs371956016, rs878853355, rs878853354, rs878853353, rs746671363, rs541717028, rs387907314, rs1309140887, rs772421550, rs746291728, rs1684627892, rs1684979540, rs1252719064, rs774755041, rs1676904823, rs775776288, rs746238212, rs1677289241	RCV004815527 RCV003888565 RCV004794583 RCV001073657 RCV004814840 RCV001073654 RCV000225588 RCV000225669 RCV000225591 RCV004818423 RCV001074082 RCV004814930 RCV004817826 RCV001074011 RCV004818093 RCV001073477 RCV001073379 RCV001073453 RCV001075276 RCV001075473 RCV001073414 RCV001073813 RCV001073814	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinitis pigmentosa	Pathogenic; Likely pathogenic	rs527236083, rs119489105, rs371956016, rs878853354, rs878853353, rs142721656, rs541717028, rs746238212, rs772421550, rs1573592124, rs1573607809, rs774577413, rs1676864299, rs780007963	RCV000132664 RCV001723542 RCV003324483 RCV000505072 RCV001723812 RCV003324701 RCV000504691 RCV000504845 RCV000787624 RCV000787625 RCV000787626 RCV001724205 RCV001199709 RCV001249884	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinitis pigmentosa 38	Pathogenic; Likely pathogenic	rs868566811, rs2104423659, rs2104411620, rs2104423657, rs2104652801, rs527236083, rs527236134, rs1676862579, rs786205533, rs786205534, rs786205535, rs756229364, rs1400057476, rs730880273, rs119489105, rs371956016, rs863224894, rs779211043, rs886039422, rs2466781317, rs1573648098, rs1553449458, rs541717028, rs1573554264, rs387907314, rs1553454799, rs1309140887, rs1573592033, rs772421550, rs1573613491, rs774577413, rs778383770, rs746291728, rs1573627154, rs1573638426, rs778005207, rs1487540503, rs775776288, rs776644374, rs1676689811, rs1676926630	RCV001376204 RCV001376471 RCV005866983 RCV001801331 RCV001808072 RCV004796036 RCV000132665 RCV002255114 RCV003987405 RCV003987406 RCV003987407 RCV004796769 RCV005021663 RCV000005732 RCV000005733 RCV000005734 RCV000197519 RCV005254670 RCV004760469 RCV004798982 RCV003990571 RCV000502117 RCV002289688 RCV000030843 RCV000030845 RCV000622651 RCV000625642 RCV000786937 RCV002501026 RCV000986795 RCV000986796 RCV000986797 RCV000986798 RCV002249605 RCV001002387 RCV001001159 RCV001001044 RCV003991038 RCV001376396 RCV001376500 RCV003988865 RCV001267880	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Conflicting classifications of pathogenicity; Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Adrenocortical carcinoma, hereditary	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Conflicting classifications of pathogenicity; Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic lymphocytic leukemia/small lymphocytic lymphoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CIRRHOSIS OF LIVER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONE-ROD DYSTROPHIES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cone-rod dystrophy	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial pancreatic carcinoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GOUT	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMORRHOID	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IGA GLOMERULONEPHRITIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MULTIPLE SCLEROSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOCARDIAL INFARCTION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Conflicting classifications of pathogenicity; Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Optic atrophy	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Ovarian cancer	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RETINITIS PIGMENTOSA 1	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Retinitis Pigmentosa, Recessive	Uncertain significance; Conflicting classifications of pathogenicity; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Conflicting classifications of pathogenicity; Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
THROMBOEMBOLISM	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
THROMBOSIS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Conflicting classifications of pathogenicity; Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign; 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 leukemia	Leukemia	BEFREE	27649555		★☆☆☆☆ Found in Text Mining only
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	16652142, 23997116, 25428221, 27649555, 30385715		★☆☆☆☆ Found in Text Mining only
Adult Acute Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	23997116, 25428221, 30385715		★☆☆☆☆ Found in Text Mining only
Age related macular degeneration	Age-related macular degeneration	BEFREE	25450174		★☆☆☆☆ Found in Text Mining only
Allergic sensitization	Allergic Sensitization	BEFREE	30082152		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	29530050	Associate	★☆☆☆☆ Found in Text Mining only
Amaurosis congenita of Leber, type 1	Leber congenital amaurosis	BEFREE	20130272, 21602930		★☆☆☆☆ Found in Text Mining only
Anaplastic carcinoma	Anaplastic Carcinoma	CTD_human_DG	19028587		★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	21384080, 28067670, 31758542		★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	BEFREE	29706963		★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	2969703	Inhibit	★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	38283352	Associate	★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	21384080, 28067670, 31758542		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	Pubtator	22942426	Associate	★☆☆☆☆ Found in Text Mining only
Atrophoderma maculatum	Anetoderma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Atrophy	Atrophy	Pubtator	20300561	Associate	★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	16837475, 19059436, 23071254, 25074939		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune disease	Pubtator	28727830	Stimulate	★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	30765874		★☆☆☆☆ Found in Text Mining only
Blood Coagulation Disorders	Blood coagulation disorder	Pubtator	37673933	Associate	★☆☆☆☆ Found in Text Mining only
Blood Platelet Disorders	Platelet disorder	Pubtator	33114206	Associate	★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain neoplasms	Pubtator	8692923	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	25074939		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	25074939	Associate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	20423999	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	35728303	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	CTD_human_DG	19028587		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	32955083, 35728303, 36003399	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	30765874		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	26162689		★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	36216827	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Spindle-Cell	Carcinoma	CTD_human_DG	19028587		★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Dilated	Dilated cardiomyopathy	Pubtator	39762897	Associate	★☆☆☆☆ Found in Text Mining only
Carotid Atherosclerosis	Carotid Atherosclerosis	BEFREE	20664904		★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	HPO_DG			★☆☆☆☆ Found in Text Mining only
Childhood Acute Lymphoblastic Leukemia	Lymphoblastic Leukemia	BEFREE	23997116, 25428221, 30385715		★☆☆☆☆ Found in Text Mining only
Cholestasis Extrahepatic	Cholelithiasis	Pubtator	25479139	Associate	★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	BEFREE	29359540		★☆☆☆☆ Found in Text Mining only
Cirrhosis	Cirrhosis	BEFREE	28338112		★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	Pubtator	28727830	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	28727830		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	29101300	Associate	★☆☆☆☆ Found in Text Mining only
Conductive hearing loss	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of penis	Congenital Hypoplasia Of Penis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	Pubtator	33761885	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Crohn Disease	Crohn Disease	BEFREE	28369510		★☆☆☆☆ Found in Text Mining only
Demyelinating Diseases	Demyelinating diseases	Pubtator	21347448, 26990204	Associate	★☆☆☆☆ Found in Text Mining only
Demyelinating Diseases	Demyelinating Diseases	BEFREE	26990204		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	28668213	Inhibit	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 1	Diabetes mellitus, type 1	Pubtator	30978214	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathies	Diabetic neuropathy	Pubtator	28668213	Associate	★☆☆☆☆ Found in Text Mining only
Disorder of eye	Disorder Of Eye	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	36965901	Associate	★☆☆☆☆ Found in Text Mining only
Eye Diseases	Eye disease	Pubtator	32976546	Associate	★☆☆☆☆ Found in Text Mining only
Fatty Liver Disease	Fatty Liver	BEFREE	31839486		★☆☆☆☆ Found in Text Mining only
Fibrosis, Liver	Liver Fibrosis	BEFREE	27577861, 28334911, 28338112, 31583026, 31839486		★☆☆☆☆ 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	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	22179835, 22469987, 24658326, 28605477		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	27783662	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	22179835, 22469987, 24658326, 28605477		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	24410805	Associate	★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	28605477		★☆☆☆☆ Found in Text Mining only
Graft vs Host Disease	Graft-versus-host disease	Pubtator	31300420	Associate	★☆☆☆☆ Found in Text Mining only
Head and Neck Neoplasms	Head and neck neoplasm	Pubtator	27081701	Associate	★☆☆☆☆ Found in Text Mining only
Hearing Loss	Hearing loss	Pubtator	33353011	Associate	★☆☆☆☆ Found in Text Mining only
Hematological Disease	Hematological Disease	BEFREE	16837475		★☆☆☆☆ Found in Text Mining only
Hepatitis C	Hepatitis c	Pubtator	22841784	Associate	★☆☆☆☆ Found in Text Mining only
Hepatitis C Chronic	Hepatitis c	Pubtator	36003399	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary Paraganglioma-Pheochromocytoma Syndrome	Hereditary Paraganglioma-Pheochromocytoma Syndromes	CLINGEN_DG	26700204		★☆☆☆☆ Found in Text Mining only
Hyperinsulinism	Hyperinsulinism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypogonadism	Hypogonadism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ichthyosis linearis circumflexa	Netherton syndrome	BEFREE	28127639		★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	29634284, 31221805		★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Idiopathic pulmonary fibrosis	Pubtator	31221805	Associate	★☆☆☆☆ Found in Text Mining only
IGA Glomerulonephritis	Glomerulonephritis	CTD_human_DG	25133636		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	BEFREE	30215097		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Keratoconus	Keratoconus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Leber Congenital Amaurosis	Leber congenital amaurosis	Pubtator	20300561, 21602930, 30416334	Associate	★☆☆☆☆ Found in Text Mining only
Leber Congenital Amaurosis	Leber Congenital Amaurosis	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	LHGDN	16675557		★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	19922767, 22363695, 36960055	Associate	★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	23833304, 25428221, 27649555, 30385715		★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	23474756, 36960055	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	23474756, 23982172, 27649555, 29277773, 30340900		★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	GWASCAT_DG	27903959		★☆☆☆☆ Found in Text Mining only
Leukopenia	Leukopenia	BEFREE	16837475, 28144780		★☆☆☆☆ Found in Text Mining only
Lewy Body Disease	Lewy body disease	Pubtator	37671615	Associate	★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	26211651		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver Cirrhosis	GWASDB_DG	22841784		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver Cirrhosis	GWASCAT_DG	22841784		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver cirrhosis	Pubtator	22841784, 36003399	Associate	★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver Cirrhosis	BEFREE	28338112		★☆☆☆☆ Found in Text Mining only
Liver Diseases	Liver disease	Pubtator	30978214, 36003399	Associate	★☆☆☆☆ Found in Text Mining only
Liver Diseases Alcoholic	Liver disease	Pubtator	30978214	Associate	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	33114206	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	22942426, 24325951, 24741600, 25878564	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	24650765	Stimulate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	16837475, 24741600		★☆☆☆☆ Found in Text Mining only
Lupus Nephritis	Lupus Nephritis	BEFREE	28127639		★☆☆☆☆ Found in Text Mining only
Lymphoid leukemia	Lymphoid leukemia	BEFREE	16652142		★☆☆☆☆ Found in Text Mining only
Lymphopenia	Lymphopenia	BEFREE	16837475		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	25074939		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	26162689, 30194074		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	30244621		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	27753136, 28072762		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	29228560, 29285287		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	30765874		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	25074939, 25568918, 26427420, 27649555, 28251492, 28263720, 29277773, 29285287, 29434888, 30093568, 30765874, 30944303, 31075180, 31775787		★☆☆☆☆ Found in Text Mining only
Medullary carcinoma of thyroid	Megalencephaly, Polymicrogyria, Polydactyly, Hydrocephalus Syndrome	BEFREE	26700204		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	16946712, 23617806, 35007555	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
melanoma	Melanoma	BEFREE	23617806, 30482852		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Meningioma	Meningioma	Pubtator	38102708, 39179860	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	28154173, 35967396	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple sclerosis	Pubtator	19541935	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Multiple Sclerosis	Multiple Sclerosis	BEFREE	21347448, 26990204		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Multiple Sclerosis	Multiple sclerosis	Pubtator	21347448, 38150649	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Multiple Sclerosis	Multiple Sclerosis	GWASCAT_DG	21833088		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Multiple Sclerosis	Multiple Sclerosis	GWASDB_DG	21833088		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Multiple Sclerosis	Multiple sclerosis	Pubtator	26990204	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYELOPROLIFERATIVE SYNDROME, TRANSIENT	Myeloproliferative disorder	BEFREE	28251492		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	28851810		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neoplasms	Neoplasms	BEFREE	24658326, 25250573, 26162689, 28251492, 29228560, 30093568, 30385715, 30413412, 30482852		★☆☆☆☆ Found in Text Mining only
Neutropenia	Neutropenia	BEFREE	28144780		★☆☆☆☆ Found in Text Mining only
Non-alcoholic Fatty Liver Disease	Non-Alcoholic Fatty Liver Disease	BEFREE	27577861		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	25372020, 26162689, 30093568, 30194074		★☆☆☆☆ Found in Text Mining only
Nuclear non-senile cataract	Cataract	BEFREE	28127639		★☆☆☆☆ Found in Text Mining only
Nyctalopia	Nyctalopia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	HPO_DG			★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic Atrophy	HPO_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Osteosarcoma	Osteosarcoma	Pubtator	39174890	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	30244621		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	23872419, 37628967	Associate	★☆☆☆☆ Found in Text Mining only
Paraganglioma	Paraganglioma	BEFREE	28476232		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	37671615	Associate	★☆☆☆☆ Found in Text Mining only
Patterned dystrophy of retinal pigment epithelium	Patterned macular dystrophy	Pubtator	33672445	Associate	★☆☆☆☆ Found in Text Mining only
Peripheral retinal atrophy	Peripheral retinal atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pheochromocytoma	Pheochromocytoma	Pubtator	26700204	Associate	★☆☆☆☆ Found in Text Mining only
Precursor B-cell lymphoblastic leukemia	Lymphoblastic Leukemia	BEFREE	19643988		★☆☆☆☆ Found in Text Mining only
Precursor Cell Lymphoblastic Leukemia Lymphoma	Lymphoblastic Leukemia	BEFREE	16652142		★☆☆☆☆ Found in Text Mining only
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma	Lymphoblastic Leukemia	BEFREE	16675557		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	27753136		★☆☆☆☆ Found in Text Mining only
Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	31221805		★☆☆☆☆ Found in Text Mining only
Pulmonary Thromboembolisms	Pulmonary thromboembolism	CTD_human_DG	19028587		★☆☆☆☆ Found in Text Mining only
Retinal Degeneration	Retinal degeneration	Pubtator	11727200, 33252167	Associate	★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal detachment	Pubtator	16714263, 38184646	Associate	★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal Diseases	BEFREE	28813472		★☆☆☆☆ Found in Text Mining only
Retinal Dystrophies	Retinal Dystrophy	BEFREE	11062461, 20300561		★☆☆☆☆ Found in Text Mining only
Retinal Dystrophies	Retinal Dystrophy	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis Pigmentosa	BEFREE	11062461, 11592982, 12907141, 16612614, 18815424, 18845835, 20130272, 22180149, 22408006, 23692380, 26147992, 26263531, 26825853, 27122965, 28246391, 28324114, 28462455, 29437494, 30054542, 30352873, 30790467		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinitis Pigmentosa	Retinitis Pigmentosa	CTD_human_DG	11062461		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinitis Pigmentosa	Retinitis Pigmentosa	CLINVAR_DG	15111602, 24625443		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinitis Pigmentosa	Retinitis Pigmentosa	LHGDN	16710167		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinitis Pigmentosa	Retinitis pigmentosa	Pubtator	16710167, 20300561, 20538656, 21677792, 22128245, 26147992, 27122965, 28246391, 28462455, 30416333, 30612079, 30790467, 32160519, 32976546, 33242397, 33353011, 33609509, 33672445	Associate	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinitis pigmentosa	Retinitis Pigmentosa	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinitis Pigmentosa	Retinitis Pigmentosa	GENOMICS_ENGLAND_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
RETINITIS PIGMENTOSA 38 (disorder)	Retinitis Pigmentosa	UNIPROT_DG	11062461		★☆☆☆☆ Found in Text Mining only
RETINITIS PIGMENTOSA 38 (disorder)	Retinitis Pigmentosa	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
RETINITIS PIGMENTOSA 38 (disorder)	Retinitis Pigmentosa	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
RETINITIS PIGMENTOSA 38 (disorder)	Retinitis Pigmentosa	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma	Rhabdomyosarcoma	BEFREE	23833304		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	29706963		★☆☆☆☆ Found in Text Mining only
Rod-Cone Dystrophy	Rod-cone dystrophy	BEFREE	15111602, 19403518		★☆☆☆☆ Found in Text Mining only
Rod-Cone Dystrophy	Rod-cone dystrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Severe Acute Respiratory Syndrome	Severe Acute Respiratory Syndrome	BEFREE	15911427		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	27081701	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	30093568		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	29228560, 29285287		★☆☆☆☆ Found in Text Mining only
Stroke	Stroke	Pubtator	37673933	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid cancer medullary	Medullary thyroid cancer	Pubtator	26700204	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid Cancer Papillary	Papillary thyroid cancer	Pubtator	37733241	Associate	★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	27231203, 30093568		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	27231203	Associate	★☆☆☆☆ Found in Text Mining only
Tubular Aggregate Myopathy	Tubular Aggregate Myopathy	BEFREE	28251492		★☆☆☆☆ Found in Text Mining only
Turcot syndrome	Turcot syndrome	Pubtator	8855970	Associate	★☆☆☆☆ Found in Text Mining only
Undifferentiated carcinoma	Carcinoma	CTD_human_DG	19028587		★☆☆☆☆ Found in Text Mining only
Uveal melanoma	Uveal melanoma	Pubtator	37506796	Associate	★☆☆☆☆ Found in Text Mining only
Uveitis Anterior	Anterior uveitis	Pubtator	32492107	Associate	★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular disease	Pubtator	31300420	Associate	★☆☆☆☆ Found in Text Mining only
Vision Disorders	Visual disorder	Pubtator	27122965, 30790467, 32160519	Associate	★☆☆☆☆ Found in Text Mining only