WNT1 (Wnt family member 1)

Gene

• Entrez ID: 7471
• Gene name: Wnt family member 1
• Gene symbol: WNT1
• Synonyms (NCBI Gene): BMND16, INT1, OI15
• Chromosome: 12
• Chromosome location: 12q13.12
• Summary: The WNT gene family consists of structurally related genes which encode secreted signaling proteins. These proteins have been implicated in oncogenesis and in several developmental processes, including regulation of cell fate and patterning during embryog

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs387907358	G>T	Uncertain-significance, pathogenic	Missense variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT001231	hsa-miR-34a-5p	Luciferase reporter assay	19336450
MIRT001231	hsa-miR-34a-5p	Luciferase reporter assay	19336450
MIRT001231	hsa-miR-34a-5p	Luciferase reporter assay	19336450
MIRT001231	hsa-miR-34a-5p	Flow, Immunoblot, Luciferase reporter assay, Microarray, qRT-PCR	19398721
MIRT005718	hsa-let-7e-5p	Flow, Immunoblot, Luciferase reporter assay, Microarray, qRT-PCR	19398721
MIRT006421	hsa-miR-122-5p	Luciferase reporter assay, qRT-PCR, Western blot	22276989
MIRT006421	hsa-miR-122-5p	Luciferase reporter assay, qRT-PCR, Western blot	22276989
MIRT006421	hsa-miR-122-5p	Luciferase reporter assay, qRT-PCR, Western blot	22276989
MIRT006421	hsa-miR-122-5p	Luciferase reporter assay, qRT-PCR, Western blot	22276989
MIRT006421	hsa-miR-122-5p	Luciferase reporter assay, qRT-PCR, Western blot	22276989
MIRT006421	hsa-miR-122-5p	Luciferase reporter assay, qRT-PCR, Western blot	22276989
MIRT053534	hsa-miR-22-3p	Immunohistochemistry, Luciferase reporter assay, Microarray, qRT-PCR, Western blot	23851184
MIRT053534	hsa-miR-22-3p	Immunohistochemistry, Luciferase reporter assay, Microarray, qRT-PCR, Western blot	23851184
MIRT053535	hsa-miR-200b-3p	Immunohistochemistry, Luciferase reporter assay, Microarray, qRT-PCR, Western blot	23851184
MIRT053535	hsa-miR-200b-3p	Immunohistochemistry, Luciferase reporter assay, Microarray, qRT-PCR, Western blot	23851184
MIRT054376	hsa-miR-152-3p	Luciferase reporter assay, qRT-PCR, Western blot	24416131
MIRT732353	hsa-miR-148a-3p	Immunohistochemistry, In situ hybridization, Luciferase reporter assay, qRT-PCR, Western blot	28199399
MIRT732353	hsa-miR-148a-3p	Immunohistochemistry, In situ hybridization, Luciferase reporter assay, qRT-PCR, Western blot	28199399
MIRT732353	hsa-miR-148a-3p	Immunohistochemistry, In situ hybridization, Luciferase reporter assay, qRT-PCR, Western blot	28199399
MIRT732353	hsa-miR-148a-3p	Immunohistochemistry, In situ hybridization, Luciferase reporter assay, qRT-PCR, Western blot	28199399
MIRT732353	hsa-miR-148a-3p	Immunohistochemistry, In situ hybridization, Luciferase reporter assay, qRT-PCR, Western blot	26707142
MIRT732353	hsa-miR-148a-3p	Immunohistochemistry, In situ hybridization, Luciferase reporter assay, qRT-PCR, Western blot	26707142
MIRT006421	hsa-miR-122-5p	Luciferase reporter assay, qRT-PCR	27687586
MIRT001231	hsa-miR-34a-5p	Luciferase reporter assay, qRT-PCR, Western blot	28199987
MIRT733878	hsa-miR-762	Western blotting	34092606
MIRT733927	mmu-miR-762	Western blotting	34092606
MIRT1493579	hsa-let-7a	CLIP-seq
MIRT1493580	hsa-let-7b	CLIP-seq
MIRT1493581	hsa-let-7c	CLIP-seq
MIRT1493582	hsa-let-7d	CLIP-seq
MIRT1493583	hsa-let-7e	CLIP-seq
MIRT1493584	hsa-let-7f	CLIP-seq
MIRT1493585	hsa-let-7g	CLIP-seq
MIRT1493586	hsa-let-7i	CLIP-seq
MIRT1493587	hsa-miR-1207-5p	CLIP-seq
MIRT1493588	hsa-miR-1321	CLIP-seq
MIRT1493589	hsa-miR-1471	CLIP-seq
MIRT1493590	hsa-miR-1915	CLIP-seq
MIRT1493591	hsa-miR-24	CLIP-seq
MIRT1493592	hsa-miR-3202	CLIP-seq
MIRT1493593	hsa-miR-3612	CLIP-seq
MIRT1493594	hsa-miR-3622b-5p	CLIP-seq
MIRT1493595	hsa-miR-4270	CLIP-seq
MIRT1493596	hsa-miR-4284	CLIP-seq
MIRT1493597	hsa-miR-4419a	CLIP-seq
MIRT1493598	hsa-miR-4441	CLIP-seq
MIRT1493599	hsa-miR-4458	CLIP-seq
MIRT1493600	hsa-miR-4475	CLIP-seq
MIRT1493601	hsa-miR-4476	CLIP-seq
MIRT1493602	hsa-miR-4500	CLIP-seq
MIRT1493603	hsa-miR-4510	CLIP-seq
MIRT1493604	hsa-miR-4722-5p	CLIP-seq
MIRT1493605	hsa-miR-4728-5p	CLIP-seq
MIRT1493606	hsa-miR-4736	CLIP-seq
MIRT1493607	hsa-miR-4739	CLIP-seq
MIRT1493608	hsa-miR-4756-5p	CLIP-seq
MIRT1493609	hsa-miR-4763-3p	CLIP-seq
MIRT1493610	hsa-miR-4768-3p	CLIP-seq
MIRT1493611	hsa-miR-650	CLIP-seq
MIRT1493612	hsa-miR-98	CLIP-seq
MIRT2148783	hsa-miR-4689	CLIP-seq
MIRT2369172	hsa-miR-151-5p	CLIP-seq
MIRT2369173	hsa-miR-151b	CLIP-seq
MIRT2369174	hsa-miR-1827	CLIP-seq
MIRT2369175	hsa-miR-3150b-3p	CLIP-seq
MIRT2148783	hsa-miR-4689	CLIP-seq
MIRT2369176	hsa-miR-4695-5p	CLIP-seq
MIRT2369177	hsa-miR-4784	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000578	Process	Embryonic axis specification	IEA
GO:0000578	Process	Embryonic axis specification	ISS
GO:0001658	Process	Branching involved in ureteric bud morphogenesis	IEA
GO:0005102	Function	Signaling receptor binding	IEA
GO:0005109	Function	Frizzled binding	IBA
GO:0005109	Function	Frizzled binding	IC	19756656
GO:0005109	Function	Frizzled binding	NAS	23461676
GO:0005125	Function	Cytokine activity	IBA
GO:0005125	Function	Cytokine activity	IDA	11357136
GO:0005125	Function	Cytokine activity	IEA
GO:0005125	Function	Cytokine activity	ISS
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	IBA
GO:0005737	Component	Cytoplasm	IDA	11793365, 19756656
GO:0005788	Component	Endoplasmic reticulum lumen	TAS
GO:0005796	Component	Golgi lumen	TAS
GO:0005886	Component	Plasma membrane	TAS
GO:0007267	Process	Cell-cell signaling	IEA
GO:0007267	Process	Cell-cell signaling	ISS
GO:0007520	Process	Myoblast fusion	IEA
GO:0008283	Process	Cell population proliferation	IEA
GO:0008284	Process	Positive regulation of cell population proliferation	IDA	16501043
GO:0008284	Process	Positive regulation of cell population proliferation	IMP	19778454
GO:0009611	Process	Response to wounding	IEP	17982423
GO:0009986	Component	Cell surface	IEA
GO:0010592	Process	Positive regulation of lamellipodium assembly	IMP	19756656
GO:0010812	Process	Negative regulation of cell-substrate adhesion	IDA	16501043
GO:0014902	Process	Myotube differentiation	IEA
GO:0016015	Function	Morphogen activity	TAS	24431302
GO:0016055	Process	Wnt signaling pathway	IEA
GO:0016055	Process	Wnt signaling pathway	ISS	9192640
GO:0019904	Function	Protein domain specific binding	IEA
GO:0021527	Process	Spinal cord association neuron differentiation	IEA
GO:0021536	Process	Diencephalon development	IEA
GO:0021549	Process	Cerebellum development	IEA
GO:0021551	Process	Central nervous system morphogenesis	IEA
GO:0021551	Process	Central nervous system morphogenesis	ISS
GO:0021588	Process	Cerebellum formation	IEA
GO:0021588	Process	Cerebellum formation	ISS
GO:0021797	Process	Forebrain anterior/posterior pattern specification	IEA
GO:0022004	Process	Midbrain-hindbrain boundary maturation during brain development	IEA
GO:0022008	Process	Neurogenesis	IEA
GO:0022037	Process	Metencephalon development	IEA
GO:0022408	Process	Negative regulation of cell-cell adhesion	IMP	17072303
GO:0030182	Process	Neuron differentiation	IBA
GO:0030512	Process	Negative regulation of transforming growth factor beta receptor signaling pathway	IEA
GO:0030514	Process	Negative regulation of BMP signaling pathway	IMP	16194878
GO:0030666	Component	Endocytic vesicle membrane	TAS
GO:0030901	Process	Midbrain development	IEA
GO:0030901	Process	Midbrain development	ISS
GO:0030917	Process	Midbrain-hindbrain boundary development	IEA
GO:0031100	Process	Animal organ regeneration	IEA
GO:0033077	Process	T cell differentiation in thymus	IEA
GO:0033278	Process	Cell proliferation in midbrain	IEA
GO:0036520	Process	Astrocyte-dopaminergic neuron signaling	IEA
GO:0042472	Process	Inner ear morphogenesis	IEA
GO:0042770	Process	Signal transduction in response to DNA damage	IDA	16501043
GO:0043066	Process	Negative regulation of apoptotic process	IMP	12154096
GO:0043568	Process	Positive regulation of insulin-like growth factor receptor signaling pathway	IDA	12154096
GO:0045165	Process	Cell fate commitment	IBA
GO:0045444	Process	Fat cell differentiation	IEA
GO:0045596	Process	Negative regulation of cell differentiation	IEA
GO:0045599	Process	Negative regulation of fat cell differentiation	IEA
GO:0045599	Process	Negative regulation of fat cell differentiation	ISS
GO:0045747	Process	Positive regulation of Notch signaling pathway	IDA	16501043
GO:0045893	Process	Positive regulation of DNA-templated transcription	IDA	10644691
GO:0045893	Process	Positive regulation of DNA-templated transcription	IEA
GO:0045893	Process	Positive regulation of DNA-templated transcription	IMP	19847889
GO:0045893	Process	Positive regulation of DNA-templated transcription	ISS
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0048018	Function	Receptor ligand activity	IC	19778454
GO:0048018	Function	Receptor ligand activity	IDA	28733458
GO:0048018	Function	Receptor ligand activity	IEA
GO:0048018	Function	Receptor ligand activity	NAS	23461676
GO:0048146	Process	Positive regulation of fibroblast proliferation	IMP	19734317
GO:0048663	Process	Neuron fate commitment	IEA
GO:0048664	Process	Neuron fate determination	IEA
GO:0060061	Process	Spemann organizer formation	IEA
GO:0060061	Process	Spemann organizer formation	ISS
GO:0060070	Process	Canonical Wnt signaling pathway	IBA
GO:0060070	Process	Canonical Wnt signaling pathway	IDA	10644691, 28733458
GO:0060070	Process	Canonical Wnt signaling pathway	IEA
GO:0060070	Process	Canonical Wnt signaling pathway	IMP	12154096, 19756656, 19778454
GO:0060070	Process	Canonical Wnt signaling pathway	NAS	23461676
GO:0060070	Process	Canonical Wnt signaling pathway	TAS	22988876, 24431302, 26049140
GO:0060348	Process	Bone development	IMP	23499309
GO:0061184	Process	Positive regulation of dermatome development	IDA	10654605
GO:0070062	Component	Extracellular exosome	TAS
GO:0070365	Process	Hepatocyte differentiation	IEA
GO:0071375	Process	Cellular response to peptide hormone stimulus	IEA
GO:0071425	Process	Hematopoietic stem cell proliferation	IEA
GO:0071542	Process	Dopaminergic neuron differentiation	IEA
GO:1902035	Process	Positive regulation of hematopoietic stem cell proliferation	IEA
GO:1903377	Process	Negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway	IEA
GO:1904948	Process	Midbrain dopaminergic neuron differentiation	IEA
GO:1904948	Process	Midbrain dopaminergic neuron differentiation	NAS	23461676
GO:1904948	Process	Midbrain dopaminergic neuron differentiation	TAS	22988876
GO:1990403	Process	Embryonic brain development	IEA
GO:2000059	Process	Negative regulation of ubiquitin-dependent protein catabolic process	IEA
GO:2000773	Process	Negative regulation of cellular senescence	IDA	16501043

Other IDs

• MIM: 164820
• HGNC: 12774
• e!Ensembl: ENSG00000125084

Protein

• UniProt ID: P04628
• Protein name: Proto-oncogene Wnt-1 (Proto-oncogene Int-1 homolog)
• Protein function: Ligand for members of the frizzled family of seven transmembrane receptors (Probable). Acts in the canonical Wnt signaling pathway by promoting beta-catenin-dependent transcriptional activation (PubMed:23499309, PubMed:23656646, PubMed:26902720,
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00110	wnt	60 → 370	wnt family	Family

• Sequence:

  MGLWALLPGWVSATLLLALAALPAALAANSSGRWWGIVNVASSTNLLTDSKSLQLVLEPS
  LQLLSRKQRRLIRQNPGILHSVSGGLQSAVRECKWQFRNRRWNCPTAPGPHLFGKIVNRG
  CRETAFIFAITSAGVTHSVARSCSEGSIESCTCDYRRRGPGGPDWHWGGCSDNIDFGRLF
  GREFVDSGEKGRDLRFLMNLHNNEAGRTTVFSEMRQECKCHGMSGSCTVRTCWMRLPTLR
  AVGDVLRDRFDGASRVLYGNRGSNRASRAELLRLEPEDPAHKPPSPHDLVYFEKSPNFCT
  YSGRLGTAGTAGRACNSSSPALDGCELLCCGRGHRTRTQRVTERCNCTFHWCCHVSCRNC
  THTRVLHECL

• Sequence length: 370

Pathways

KEGG:

mTOR signaling pathway
Wnt signaling pathway
Hippo signaling pathway
Signaling pathways regulating pluripotency of stem cells
Melanogenesis
Cushing syndrome
Alzheimer disease
Pathways of neurodegeneration - multiple diseases
Human papillomavirus infection
Pathways in cancer
Proteoglycans in cancer
Chemical carcinogenesis - receptor activation
Basal cell carcinoma
Breast cancer
Hepatocellular carcinoma
Gastric cancer

Reactome:

TCF dependent signaling in response to WNT
WNT ligand biogenesis and trafficking
PCP/CE pathway
Disassembly of the destruction complex and recruitment of AXIN to the membrane

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
Osteogenesis imperfecta	Pathogenic	rs779969402	RCV002271673	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Osteogenesis imperfecta type 15	Likely pathogenic; Pathogenic	rs2137624585, rs779969402, rs2137625115, rs2137625424, rs2137625459, rs727505392, rs2498946534, rs778294620, rs1555178899, rs387907353, rs387907354, rs387907355, rs387907356, rs387907357	RCV001729995 RCV001806348 RCV005006132 RCV002244150 RCV002251300 RCV000157063 RCV003134801 RCV003139442 RCV000677241 RCV000043491 RCV000043493 RCV000043494 RCV000043495 RCV000043496	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
OSTEOPOROSIS, EARLY-ONSET, SUSCEPTIBILITY TO	Likely pathogenic; Pathogenic	rs2137625115, rs387907353, rs387907356	RCV005006132 RCV000043492 RCV005007964	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
WNT1-related disorder	Likely pathogenic	rs750005846	RCV003422478	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BONE DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONNECTIVE TISSUE DISEASES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Connective tissue disorder	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IDIOPATHIC JUVENILE OSTEOPOROSIS	—	GWAS catalog, Orphanet GWAS catalog, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Keratoconus	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
OSTEOGENESIS IMPERFECTA TYPE 3	—	GenCC, Orphanet GenCC, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOGENESIS IMPERFECTA TYPE 4	—	GWAS catalog, Orphanet GWAS catalog, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteogenesis imperfecta type III	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
OSTEOGENESIS IMPERFECTA TYPE IV	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOGENESIS IMPERFECTA, TYPE XV	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOPOROSIS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenocarcinoma	Adenocarcinoma	BEFREE	30509497		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	30926812		★☆☆☆☆ Found in Text Mining only
Adenomatous Polyposis Coli	Multiple polyposis syndrome	LHGDN	18844223		★☆☆☆☆ Found in Text Mining only
Alagille Syndrome	Alagille Syndrome	BEFREE	22156581		★☆☆☆☆ Found in Text Mining only
Ameloblastoma	Ameloblastoma	BEFREE	22077561, 30008830		★☆☆☆☆ Found in Text Mining only
Amyloidosis	Amyloidosis	BEFREE	17289346		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic lateral sclerosis	Pubtator	25811776	Inhibit	★☆☆☆☆ Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA	Syndromic microphthalmia	BEFREE	27889647		★☆☆☆☆ Found in Text Mining only
Arachnoid Cysts	Arachnoid cyst	BEFREE	30692598		★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	10688908, 12428226	Associate	★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	23845395		★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial Fibrillation	BEFREE	29104639		★☆☆☆☆ Found in Text Mining only
ATRIAL SEPTAL DEFECT 1	Atrial Septal Defect	BEFREE	24002087, 31845891		★☆☆☆☆ Found in Text Mining only
Atrial Septal Defects	Atrial Septal Defect	BEFREE	24002087, 31845891		★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorder	Autism	Pubtator	24002087	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	24002087, 31845891		★☆☆☆☆ Found in Text Mining only
Basal cell carcinoma	Carcinoma	LHGDN	12014624		★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	29212249		★☆☆☆☆ Found in Text Mining only
Blast Phase	Blast phase chronic myelogenous leukemia	BEFREE	29704505		★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	BEFREE	30896082		★☆☆☆☆ Found in Text Mining only
Bone Diseases	Bone disease	Pubtator	27005318, 30447692	Associate	★☆☆☆☆ Found in Text Mining only
Bone Diseases	Bone Disease	BEFREE	29506076, 30690791		★☆☆☆☆ Found in Text Mining only
Bone Diseases Metabolic	Bone disease	Pubtator	31968132, 33716164	Associate	★☆☆☆☆ Found in Text Mining only
Brain Diseases	Brain disease	Pubtator	30012084	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	11737884, 12469206, 15492823, 15736421, 16501043, 18059186, 1975511, 20501844, 20710043, 21573501, 22824795, 22846569, 23369183, 26707142		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	17074804, 17897439, 18059186, 22270359, 23372744, 26421711, 27036017, 32329856	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carcinogenesis	Carcinogenesis	Pubtator	15736421, 2515180, 36056132, 9601641	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	31322232, 31599410, 36619232	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	29212249		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	28199399, 29565490, 30426539, 30756509		★☆☆☆☆ Found in Text Mining only
Carcinoma Ovarian Epithelial	Epithelial ovarian carcinoma	Pubtator	24499657	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	23708097	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	27420949	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	34666560	Inhibit	★☆☆☆☆ Found in Text Mining only
Carcinoma, Basal Cell	Carcinoma	BEFREE	12014624		★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	BEFREE	28576832		★☆☆☆☆ Found in Text Mining only
Cartilage Diseases	Cartilage disease	Pubtator	31299386	Associate	★☆☆☆☆ Found in Text Mining only
Cerebellar Hypoplasia	Cerebellar Hypoplasia	BEFREE	11815869		★☆☆☆☆ Found in Text Mining only
Cerebellar Hypoplasia	Cerebellar Hypoplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Chloasma	Melasma	BEFREE	29846953		★☆☆☆☆ Found in Text Mining only
Chronic Disease	Chronic disease	Pubtator	34220309	Associate	★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	BEFREE	31356809		★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	BEFREE	28245136		★☆☆☆☆ Found in Text Mining only
Cleft palate and bilateral cleft lip	Cleft Palate And Bilateral Cleft Lip	BEFREE	28069795		★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	27836544, 29454608, 29626750		★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic Neoplasms	BEFREE	9843955		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	21678109, 24815830, 29626750, 30511962, 31489935		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	BEFREE	21678109		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	21678109, 30015876	Associate	★☆☆☆☆ Found in Text Mining only
Congenital chromosomal disease	Congenital Chromosomal Disease	BEFREE	1309486, 17893227		★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	28576832		★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	30826166		★☆☆☆☆ Found in Text Mining only
Corneal Neovascularization	Corneal Neovascularization	BEFREE	31845891		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	Pubtator	38139440	Associate	★☆☆☆☆ Found in Text Mining only
Cortical Dysplasia	Cortical Dysplasia	BEFREE	12668639		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn disease	Pubtator	26512113	Associate	★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	30089883		★☆☆☆☆ Found in Text Mining only
Depressive Disorder	Major depressive disorder	Pubtator	30246918	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	29581743, 30935943		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	29581743, 30935943		★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	28122483		★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	37176048	Associate	★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	Pubtator	24661731	Associate	★☆☆☆☆ Found in Text Mining only
Esophageal carcinoma	Esophageal Carcinoma	BEFREE	11782388, 30365079		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophagus Neoplasm	BEFREE	11782388, 30365079		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophagus Neoplasm	LHGDN	11782388		★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	20491588	Associate	★☆☆☆☆ Found in Text Mining only
Extrahepatic Cholangiocarcinoma	Cholangiocarcinoma	BEFREE	28753454		★☆☆☆☆ Found in Text Mining only
Familial aplasia of the vermis	Cerebellar vermis agenesis	BEFREE	10511339, 9295076		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	22908324, 23337036, 28643150		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	BEFREE	31189430		★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	28576832		★☆☆☆☆ Found in Text Mining only
Hemangiosarcoma	Hemangiosarcoma	BEFREE	21321190		★☆☆☆☆ Found in Text Mining only
Hematologic Diseases	Hematologic disease	Pubtator	36595228	Associate	★☆☆☆☆ Found in Text Mining only
Hemimegalencephaly	Hemimegalencephaly	BEFREE	16196383		★☆☆☆☆ Found in Text Mining only
Hemimegalencephaly	Hemimegalencephaly	Pubtator	16196383	Associate	★☆☆☆☆ Found in Text Mining only
Hepatoblastoma	Hepatoblastoma	BEFREE	18461473		★☆☆☆☆ Found in Text Mining only
Hepatocellular Adenoma	Hepatocellular adenoma	BEFREE	29399175		★☆☆☆☆ Found in Text Mining only
Heterotaxy Syndrome	Heterotaxy syndrome	Pubtator	26111189	Associate	★☆☆☆☆ Found in Text Mining only
Hirschsprung Disease	Hirschsprung Disease	BEFREE	24773279		★☆☆☆☆ Found in Text Mining only
Hirschsprung Disease	Hirschsprung disease	Pubtator	24773279	Associate	★☆☆☆☆ Found in Text Mining only
Hydrocephalus	Hydrocephalus	BEFREE	31582804		★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	24301659	Stimulate	★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	26515145	Associate	★☆☆☆☆ Found in Text Mining only
Idiopathic juvenile osteoporosis	Osteoporosis	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Idiopathic Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	18478089, 19287097, 29345973		★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Idiopathic pulmonary fibrosis	Pubtator	18478089	Stimulate	★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	24301659		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory bowel disease	Pubtator	24301659	Associate	★☆☆☆☆ Found in Text Mining only
Inflammatory Breast Carcinoma	Breast Cancer	BEFREE	18321996		★☆☆☆☆ Found in Text Mining only
Invasive Ductal Breast Carcinoma	Invasive Duct and Lobular Carcinoma	BEFREE	20388779		★☆☆☆☆ Found in Text Mining only
Irritable Bowel Syndrome	Irritable Bowel Syndrome	BEFREE	24301659		★☆☆☆☆ Found in Text Mining only
Juvenile osteoporosis	Osteoporosis	ORPHANET_DG	23499309		★☆☆☆☆ Found in Text Mining only
Kallmann Syndrome	Kallmann syndrome	Pubtator	32529806	Associate	★☆☆☆☆ Found in Text Mining only
Keratocystic Odontogenic Tumor	Keratocystic Odontogenic Tumor	BEFREE	20195877, 30008830		★☆☆☆☆ Found in Text Mining only
Kidney Failure, Chronic	Kidney Failure	BEFREE	31356809		★☆☆☆☆ Found in Text Mining only
Laryngeal Squamous Cell Carcinoma	Laryngeal Carcinoma	BEFREE	30805937		★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	23257782, 9058730		★☆☆☆☆ Found in Text Mining only
Lip and Oral Cavity Carcinoma	Lip and Oral Cavity Carcinoma	BEFREE	28070573, 28134949		★☆☆☆☆ Found in Text Mining only
Liposarcoma Myxoid	Liposarcoma	Pubtator	2515180	Associate	★☆☆☆☆ Found in Text Mining only
Liposarcoma, Myxoid	liposarcoma	BEFREE	2515180		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	14517842, 16228287, 18461473, 19778454, 25627001, 27687586, 27821157, 31322232		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	LHGDN	15580286		★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	LHGDN	19061838		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	28231299, 30756509, 32633368	Associate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	15316903	Associate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	20491588	Stimulate	★☆☆☆☆ Found in Text Mining only
Lymphoma Follicular	Lymphoma	Pubtator	37176048	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	11737884, 12469206, 15492823, 15736421, 16501043, 18059186, 20388779, 20501844, 20606007, 20710043, 21573501, 22824795, 22846569, 23369183, 26707142, 30914799		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of endometrium	Endometrial Cancer	BEFREE	28122483		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of esophagus	Esophagus Neoplasm	BEFREE	11782388, 30365079		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	28199399, 29565490, 30426539, 30756509		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of mouth	Malignant neoplasm of mouth	BEFREE	28070573, 28134949		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	12469206		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	21907199, 24659666, 28510291		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	12469206, 23108377, 26689987, 28739741, 31460694		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	29212249		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	11149923, 12469206, 15736421, 17975224, 18059186, 18350379, 19543744, 20682799, 22824795, 22846569, 24481453, 24713700, 28902353, 29232009, 29565490, 29626750, 31481760, 3281802, 9419974		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	27836544, 29454608, 29626750		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	11737884, 14623547, 17121432, 17975224, 19351845, 20565980, 22270359, 22846569, 26695440, 27402613, 30509497, 30914799		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	LHGDN	16495219, 18059186		★☆☆☆☆ Found in Text Mining only
Medullary carcinoma	Megalencephaly, Polymicrogyria, Polydactyly, Hydrocephalus Syndrome	BEFREE	16501043		★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	LHGDN	12209999		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	22572818		★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	BEFREE	23460641		★☆☆☆☆ Found in Text Mining only
MICROPHTHALMIA, SYNDROMIC 7	Syndromic microphthalmia	BEFREE	2515180		★☆☆☆☆ Found in Text Mining only
Microphthalmos	Microphthalmos	BEFREE	31336386		★☆☆☆☆ Found in Text Mining only
Miller Dieker syndrome	Miller Dieker Syndrome	BEFREE	18094713		★☆☆☆☆ Found in Text Mining only
Mood Disorders	Mood disorder	Pubtator	24002087	Associate	★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	BEFREE	17893227, 18094713, 20573398, 23257782, 23596104, 24813620, 27655690, 29572506		★☆☆☆☆ Found in Text Mining only
Myelofibrosis	Myelofibrosis	BEFREE	29147753, 30390311		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	31356809		★☆☆☆☆ Found in Text Mining only
Myocarditis	Myocarditis	BEFREE	27099262		★☆☆☆☆ Found in Text Mining only
Myotonia Fluctuans (disorder)	Myotonia Fluctuans	BEFREE	30390311		★☆☆☆☆ Found in Text Mining only
Myxoid/Round Cell Liposarcoma	Myxoid Liposarcoma	BEFREE	2515180		★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Carcinoma	Nasopharyngeal carcinoma	Pubtator	19448422	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	11134343, 11329142, 11358845, 11980918, 12014624, 12209999, 15824740, 16228287, 16501043, 16908535, 18321996, 18394172, 19351845, 19778454, 20015407, 20104523, 21732367, 21937258, 22588949, 22698404, 22908324, 23337036, 24481453, 25239452, 25627001, 25980501, 27207659, 27713126, 28122483, 29454608, 30127962, 30458886, 30509497, 30825266, 30826166, 30914799, 30926812, 31213486, 31481760, 8668193, 9652750		★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	30221704		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	19756656, 30391546		★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	LHGDN	17143299		★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	17289346		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	20664938, 27534621, 28199399		★☆☆☆☆ Found in Text Mining only
Noninfiltrating Intraductal Carcinoma	Ductal carcinoma	BEFREE	20388779		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	18584488, 26001136, 27878286, 28576832, 29129025		★☆☆☆☆ Found in Text Mining only
Oestrogen receptor positive breast cancer	Oestrogen Receptor Positive Breast Cancer	BEFREE	24498388		★☆☆☆☆ Found in Text Mining only
Osteochondrodysplasias	Osteochondrodysplasias	Pubtator	23499310	Associate	★☆☆☆☆ Found in Text Mining only
Osteogenesis Imperfecta	Osteogenesis Imperfecta	BEFREE	23434763, 23499309, 23499310, 23656646, 24634143, 25010833, 27450065, 28528193, 28628032, 29935254, 30012084, 30039845, 30246918, 30447692, 30690791, 30692598, 30715774, 30896082, 31030663		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Osteogenesis Imperfecta	Osteogenesis Imperfecta	GENOMICS_ENGLAND_DG	23499309, 2349931		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Osteogenesis Imperfecta	Osteogenesis imperfecta	Pubtator	23499310, 30012084, 30246918, 30447692, 32529806, 32757296, 34078411, 35647203, 36595228, 37730650	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Osteogenesis imperfecta type 3	Osteogenesis imperfecta	Pubtator	23499310	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteogenesis imperfecta type 3	Osteogenesis Imperfecta	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteogenesis imperfecta type 4	Osteogenesis Imperfecta	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteogenesis imperfecta type III (disorder)	Osteogenesis Imperfecta	BEFREE	23499310, 28665926		★☆☆☆☆ Found in Text Mining only
Osteogenesis imperfecta type III (disorder)	Osteogenesis Imperfecta	ORPHANET_DG	23499310, 25046257		★☆☆☆☆ Found in Text Mining only
Osteogenesis Imperfecta Type IV	Osteogenesis imperfecta	Pubtator	35550181	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteogenesis imperfecta type IV (disorder)	Osteogenesis Imperfecta	BEFREE	23434763		★☆☆☆☆ Found in Text Mining only
Osteogenesis imperfecta type IV (disorder)	Osteogenesis Imperfecta	ORPHANET_DG	23434763, 25046257		★☆☆☆☆ Found in Text Mining only
OSTEOGENESIS IMPERFECTA, TYPE XV	Osteogenesis Imperfecta	UNIPROT_DG	23434763, 23499309, 23499310, 23656646, 28528193		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOGENESIS IMPERFECTA, TYPE XV	Osteogenesis Imperfecta	GENOMICS_ENGLAND_DG	2349931		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOGENESIS IMPERFECTA, TYPE XV	Osteogenesis Imperfecta	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOGENESIS IMPERFECTA, TYPE XV	Osteogenesis Imperfecta	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteopenia	Osteopenia	BEFREE	24634143, 30690791		★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	UNIPROT_DG	23499309, 23656646		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteoporosis	Osteoporosis	BEFREE	23656646, 24634143, 25010833, 27005318, 27732335, 28379384, 28411110, 28528193, 28628032, 28628035, 29147753, 29481978, 29506076, 30246918, 30404864, 30690791, 30896082, 31299386		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteoporosis	Osteoporosis	Pubtator	27005318, 28379384, 30246918, 31299386, 31968132, 32080087, 35276006, 36004351, 36157448, 36595228, 37277619	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteoporosis	Osteoporosis	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteoporosis	Osteoporosis	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteoporosis, Age-Related	Osteoporosis	BEFREE	23499309		★☆☆☆☆ Found in Text Mining only
Osteoporosis, Age-Related	Osteoporosis	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Osteoporosis, Senile	Osteoporosis	BEFREE	23499309		★☆☆☆☆ Found in Text Mining only
Osteoporosis, Senile	Osteoporosis	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	24942472, 25197350, 26214410		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	24942472, 25197350	Associate	★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	24499657, 34002485	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	12469206		★☆☆☆☆ Found in Text Mining only
Papillary thyroid carcinoma	Papillary thyroid carcinoma	BEFREE	30127962		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	20603216, 31582965, 31602242		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	31582965	Associate	★☆☆☆☆ Found in Text Mining only
PARKINSON DISEASE, LATE-ONSET	Parkinson disease	BEFREE	29363326		★☆☆☆☆ Found in Text Mining only
Peritoneal Fibrosis	Peritoneal Fibrosis	BEFREE	29363326		★☆☆☆☆ Found in Text Mining only
Pituitary Neoplasms	Pituitary neoplasm	Pubtator	36595228	Associate	★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic Ovary Syndrome	BEFREE	28673204		★☆☆☆☆ Found in Text Mining only
Post-Traumatic Osteoporosis	Osteoporosis	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Primary Myelofibrosis	Myelofibrosis	BEFREE	29147753, 30390311		★☆☆☆☆ Found in Text Mining only
Progressive pseudorheumatoid dysplasia	Progressive Pseudorheumatoid Dysplasia	BEFREE	17363178, 29246200		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	21907199, 24659666, 28510291		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	LHGDN	18838960		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	24659666, 28510291, 35741800	Associate	★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	BEFREE	30896082		★☆☆☆☆ Found in Text Mining only
Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	19287097, 26867691		★☆☆☆☆ Found in Text Mining only
Renal fibrosis	Renal fibrosis	BEFREE	31512238		★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	LHGDN	16930536		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	10688908		★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	LHGDN	15913453		★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	Pubtator	15913453	Associate	★☆☆☆☆ Found in Text Mining only
Schizencephaly	Schizencephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	10427605		★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sjogren's Syndrome	Sjogren syndrome	Pubtator	34058801	Associate	★☆☆☆☆ Found in Text Mining only
Small cell carcinoma of lung	Lung carcinoma	LHGDN	17947472		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	12841867, 28070573		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	20491588		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of skin	Skin carcinoma	BEFREE	27420949		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	24277854		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	12469206, 23108377, 26689987, 28739741, 31460694		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach Neoplasms	BEFREE	19549530		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	31599413, 35287556, 36056132	Associate	★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	Pubtator	30246918	Associate	★☆☆☆☆ Found in Text Mining only
Subarachnoid Hemorrhage	Subarachnoid hemorrhage	BEFREE	30762013		★☆☆☆☆ Found in Text Mining only
Systemic Scleroderma	Scleroderma	BEFREE	22328737		★☆☆☆☆ Found in Text Mining only
Tongue absent	Aglossia	BEFREE	28286175		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	30458886, 30509497		★☆☆☆☆ Found in Text Mining only
Tuberous Sclerosis	Tuberous sclerosis complex	Pubtator	36595228	Associate	★☆☆☆☆ Found in Text Mining only
Uranostaphyloschisis	Uranostaphyloschisis	BEFREE	23460641, 30292786		★☆☆☆☆ Found in Text Mining only
X-linked sideroblastic anemia	Sideroblastic Anemia, X-Linked	BEFREE	28123038		★☆☆☆☆ Found in Text Mining only