NOTCH4 (notch receptor 4)

Gene

• Entrez ID: 4855
• Gene name: Notch receptor 4
• Gene symbol: NOTCH4
• Synonyms (NCBI Gene): INT3
• Chromosome: 6
• Chromosome location: 6p21.32
• Summary: This gene encodes a member of the NOTCH family of proteins. Members of this Type I transmembrane protein family share structural characteristics including an extracellular domain consisting of multiple epidermal growth factor-like (EGF) repeats, and an in

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT003211	hsa-miR-181c-5p	Luciferase reporter assay, qRT-PCR, Western blot	20080834
MIRT006192	hsa-miR-34c-5p	EMSA, Luciferase reporter assay, Western blot	22074923
MIRT006192	hsa-miR-34c-5p	EMSA, Luciferase reporter assay, Western blot	22074923
MIRT006192	hsa-miR-34c-5p	EMSA, Luciferase reporter assay, Western blot	22074923
MIRT006192	hsa-miR-34c-5p	EMSA, Luciferase reporter assay, Western blot	22074923
MIRT006192	hsa-miR-34c-5p	EMSA, Luciferase reporter assay, Western blot	22074923
MIRT006192	hsa-miR-34c-5p	EMSA, Luciferase reporter assay, Western blot	22074923
MIRT006192	hsa-miR-34c-5p	EMSA, Luciferase reporter assay, Western blot	22074923
MIRT006192	hsa-miR-34c-5p	EMSA, Luciferase reporter assay, Western blot	22074923
MIRT006192	hsa-miR-34c-5p	EMSA, Luciferase reporter assay, Western blot	22074923
MIRT040767	hsa-miR-18a-3p	CLASH	23622248
MIRT732953	hsa-miR-7-5p	Immunoprecipitaion (IP), Luciferase reporter assay, qRT-PCR, Western blotting	33118329
MIRT2055043	hsa-miR-1254	CLIP-seq
MIRT2055044	hsa-miR-128	CLIP-seq
MIRT2055045	hsa-miR-3116	CLIP-seq
MIRT2055046	hsa-miR-3144-5p	CLIP-seq
MIRT2055047	hsa-miR-3191	CLIP-seq
MIRT2055048	hsa-miR-34a	CLIP-seq
MIRT2055049	hsa-miR-4265	CLIP-seq
MIRT2055050	hsa-miR-4296	CLIP-seq
MIRT2055051	hsa-miR-4322	CLIP-seq
MIRT2055052	hsa-miR-4417	CLIP-seq
MIRT2055053	hsa-miR-449a	CLIP-seq
MIRT2055054	hsa-miR-449b	CLIP-seq
MIRT2055055	hsa-miR-4652-5p	CLIP-seq
MIRT2055056	hsa-miR-4672	CLIP-seq
MIRT2055057	hsa-miR-491-5p	CLIP-seq
MIRT2055058	hsa-miR-515-3p	CLIP-seq
MIRT2055059	hsa-miR-519e	CLIP-seq
MIRT2055060	hsa-miR-550a	CLIP-seq
MIRT2055061	hsa-miR-661	CLIP-seq
MIRT2055046	hsa-miR-3144-5p	CLIP-seq
MIRT2055047	hsa-miR-3191	CLIP-seq
MIRT2055048	hsa-miR-34a	CLIP-seq
MIRT2055049	hsa-miR-4265	CLIP-seq
MIRT2055050	hsa-miR-4296	CLIP-seq
MIRT2055051	hsa-miR-4322	CLIP-seq
MIRT2055052	hsa-miR-4417	CLIP-seq
MIRT2055053	hsa-miR-449a	CLIP-seq
MIRT2055054	hsa-miR-449b	CLIP-seq
MIRT2055055	hsa-miR-4652-5p	CLIP-seq
MIRT2284018	hsa-miR-4708-3p	CLIP-seq
MIRT2284019	hsa-miR-4781-5p	CLIP-seq
MIRT2055057	hsa-miR-491-5p	CLIP-seq
MIRT2055046	hsa-miR-3144-5p	CLIP-seq
MIRT2055047	hsa-miR-3191	CLIP-seq
MIRT2055048	hsa-miR-34a	CLIP-seq
MIRT2055049	hsa-miR-4265	CLIP-seq
MIRT2055050	hsa-miR-4296	CLIP-seq
MIRT2055051	hsa-miR-4322	CLIP-seq
MIRT2055052	hsa-miR-4417	CLIP-seq
MIRT2055053	hsa-miR-449a	CLIP-seq
MIRT2055054	hsa-miR-449b	CLIP-seq
MIRT2055055	hsa-miR-4652-5p	CLIP-seq
MIRT2055057	hsa-miR-491-5p	CLIP-seq
MIRT2055046	hsa-miR-3144-5p	CLIP-seq
MIRT2055047	hsa-miR-3191	CLIP-seq
MIRT2055048	hsa-miR-34a	CLIP-seq
MIRT2055049	hsa-miR-4265	CLIP-seq
MIRT2055050	hsa-miR-4296	CLIP-seq
MIRT2055051	hsa-miR-4322	CLIP-seq
MIRT2055052	hsa-miR-4417	CLIP-seq
MIRT2055053	hsa-miR-449a	CLIP-seq
MIRT2055054	hsa-miR-449b	CLIP-seq
MIRT2055055	hsa-miR-4652-5p	CLIP-seq
MIRT2055057	hsa-miR-491-5p	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
PPARG	Unknown	20436223

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IMP	17984306
GO:0000139	Component	Golgi membrane	IEA
GO:0000139	Component	Golgi membrane	TAS
GO:0001554	Process	Luteolysis	IEA
GO:0001569	Process	Branching involved in blood vessel morphogenesis	ISS
GO:0001709	Process	Cell fate determination	TAS	11823422
GO:0001763	Process	Morphogenesis of a branching structure	ISS
GO:0001837	Process	Epithelial to mesenchymal transition	IMP	17984306
GO:0001886	Process	Endothelial cell morphogenesis	IEA
GO:0001944	Process	Vasculature development	ISS
GO:0003713	Function	Transcription coactivator activity	IDA	18239137
GO:0005112	Function	Notch binding	IBA
GO:0005509	Function	Calcium ion binding	IEA
GO:0005509	Function	Calcium ion binding	TAS	11823422
GO:0005515	Function	Protein binding	IPI	7671825, 11101851, 32814053
GO:0005576	Component	Extracellular region	TAS
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	TAS	8681805
GO:0005654	Component	Nucleoplasm	IEA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS	9168133, 11823422
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0007219	Process	Notch signaling pathway	IEA
GO:0007221	Process	Positive regulation of transcription of Notch receptor target	TAS	18663143
GO:0009888	Process	Tissue development	IEA
GO:0009986	Component	Cell surface	IDA	11823422
GO:0016020	Component	Membrane	IEA
GO:0030097	Process	Hemopoiesis	TAS	11532344
GO:0030154	Process	Cell differentiation	IEA
GO:0030154	Process	Cell differentiation	NAS	11823422
GO:0030879	Process	Mammary gland development	IDA	9576833
GO:0038023	Function	Signaling receptor activity	IEA
GO:0038023	Function	Signaling receptor activity	TAS	11823422
GO:0045446	Process	Endothelial cell differentiation	IEA
GO:0045595	Process	Regulation of cell differentiation	IEA
GO:0045596	Process	Negative regulation of cell differentiation	NAS	11823422
GO:0045602	Process	Negative regulation of endothelial cell differentiation	ISS
GO:0045893	Process	Positive regulation of DNA-templated transcription	IEA
GO:0045893	Process	Positive regulation of DNA-templated transcription	TAS	11823422
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	18239137
GO:0048468	Process	Cell development	IEA
GO:0050793	Process	Regulation of developmental process	IEA
GO:0051094	Process	Positive regulation of developmental process	IEA
GO:0051152	Process	Positive regulation of smooth muscle cell differentiation	IDA	18239137
GO:0060354	Process	Negative regulation of cell adhesion molecule production	IMP	17984306
GO:2000048	Process	Negative regulation of cell-cell adhesion mediated by cadherin	IMP	17984306

Other IDs

• MIM: 164951
• HGNC: 7884
• e!Ensembl: ENSG00000204301

Protein

• UniProt ID: Q99466
• Protein name: Neurogenic locus notch homolog protein 4 (Notch 4) (hNotch4) [Cleaved into: Notch 4 extracellular truncation; Notch 4 intracellular domain]
• Protein function: Functions as a receptor for membrane-bound ligands Jagged1, Jagged2 and Delta1 to regulate cell-fate determination. Upon ligand activation through the released notch intracellular domain (NICD) it forms a transcriptional activator complex with R
• PDB: 7OR3, 7OR5, 7OR7
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF12661	hEGF	35 → 57	Human growth factor-like EGF	Domain
  PF12661	hEGF	127 → 149	Human growth factor-like EGF	Domain
  PF00008	EGF	160 → 189	EGF-like domain	Domain
  PF07645	EGF_CA	194 → 238	Calcium-binding EGF domain	Domain
  PF00008	EGF	238 → 272	EGF-like domain	Domain
  PF00008	EGF	280 → 308	EGF-like domain	Domain
  PF07645	EGF_CA	314 → 356	Calcium-binding EGF domain	Domain
  PF12661	hEGF	364 → 385	Human growth factor-like EGF	Domain
  PF07645	EGF_CA	432 → 474	Calcium-binding EGF domain	Domain
  PF00008	EGF	479 → 509	EGF-like domain	Domain
  PF00008	EGF	517 → 547	EGF-like domain	Domain
  PF07645	EGF_CA	551 → 590	Calcium-binding EGF domain	Domain
  PF00008	EGF	593 → 623	EGF-like domain	Domain
  PF00008	EGF	695 → 725	EGF-like domain	Domain
  PF00008	EGF	771 → 801	EGF-like domain	Domain
  PF00008	EGF	810 → 838	EGF-like domain	Domain
  PF07645	EGF_CA	845 → 886	Calcium-binding EGF domain	Domain
  PF00008	EGF	896 → 926	EGF-like domain	Domain
  PF00008	EGF	934 → 964	EGF-like domain	Domain
  PF00008	EGF	972 → 1002	EGF-like domain	Domain
  PF00008	EGF	1050 → 1083	EGF-like domain	Domain
  PF00066	Notch	1167 → 1204	LNR domain	Domain
  PF00066	Notch	1211 → 1246	LNR domain	Domain
  PF00066	Notch	1248 → 1285	LNR domain	Domain
  PF06816	NOD	1295 → 1344	NOTCH protein	Family
  PF07684	NODP	1378 → 1440	NOTCH protein	Family
  PF12796	Ank_2	1638 → 1731	Ankyrin repeats (3 copies)	Repeat
  PF12796	Ank_2	1712 → 1797	Ankyrin repeats (3 copies)	Repeat

• Tissue specificity: TISSUE SPECIFICITY: Highly expressed in the heart, moderately in the lung and placenta and at low levels in the liver, skeletal muscle, kidney, pancreas, spleen, lymph node, thymus, bone marrow and fetal liver. No expression was seen in adult brain or per
• Sequence:

  MQPPSLLLLLLLLLLLCVSVVRPRGLLCGSFPEPCANGGTCLSLSLGQGTCQCAPGFLGE
  TCQFPDPCQNAQLCQNGGSCQALLPAPLGLPSSPSPLTPSFLCTCLPGFTGERCQAKLED
  PCPPSFCSKRGRCHIQASGRPQCSCMPGWTGEQCQLRDFCSANPCVNGGVCLATYPQIQC
  HCPPGFEGHACERDVNECFQDPGPCPKGTSCHNTLGSFQCLCPVGQEGPRCELRAGPCPP
  RGCSNGGTCQLMPEKDSTFHLCLCPPGFIGPDCEVNPDNCVSHQCQNGGTCQDGLDTYTC
  LCPETWTGWDCSEDVDECETQGPPHCRNGGTCQNSAGSFHCVCVSGWGGTSCEENLDDCI
  AATCAPGSTCIDRVGSFSCLCPPGRTGLLCHLEDMCLSQPCHGDAQCSTNPLTGSTLCLC
  QPGYSGPTCHQDLDECLMAQQGPSPCEHGGSCLNTPGSFNCLCPPGYTGSRCEADHNECL
  SQPCHPGSTCLDLLATFHCLCPPGLEGQLCEVETNECASAPCLNHADCHDLLNGFQCICL
  PGFSGTRCEEDIDECRSSPCANGGQCQDQPGAFHCKCLPGFEGPRCQTEVDECLSDPCPV
  GASCLDLPGAFFCLCPSGFTGQLCEVPLCAPNLCQPKQICKDQKDKANCLCPDGSPGCAP
  PEDNCTCHHGHCQRSSCVCDVGWTGPECEAELGGCISAPCAHGGTCYPQPSGYNCTCPTG
  YTGPTCSEEMTACHSGPCLNGGSCNPSPGGYYCTCPPSHTGPQCQTSTDYCVSAPCFNGG
  TCVNRPGTFSCLCAMGFQGPRCEGKLRPSCADSPCRNRATCQDSPQGPRCLCPTGYTGGS
  CQTLMDLCAQKPCPRNSHCLQTGPSFHCLCLQGWTGPLCNLPLSSCQKAALSQGIDVSSL
  CHNGGLCVDSGPSYFCHCPPGFQGSLCQDHVNPCESRPCQNGATCMAQPSGYLCQCAPGY
  DGQNCSKELDACQSQPCHNHGTCTPKPGGFHCACPPGFVGLRCEGDVDECLDQPCHPTGT
  AACHSLANAFYCQCLPGHTGQWCEVEIDPCHSQPCFHGGTCEATAGSPLGFICHCPKGFE
  GPTCSHRAPSCGFHHCHHGGLCLPSPKPGFPPRCACLSGYGGPDCLTPPAPKGCGPPSPC
  LYNGSCSETTGLGGPGFRCSCPHSSPGPRCQKPGAKGCEGRSGDGACDAGCSGPGGNWDG
  GDCSLGVPDPWKGCPSHSRCWLLFRDGQCHPQCDSEECLFDGYDCETPPACTPAYDQYCH
  DHFHNGHCEKGCNTAECGWDGGDCRPEDGDPEWGPSLALLVVLSPPALDQQLFALARVLS
  LTLRVGLWVRKDRDGRDMVYPYPGARAEEKLGGTRDPTYQERAAPQTQPLGKETDSLSAG
  FVVVMGVDLSRCGPDHPASRCPWDPGLLLRFLAAMAAVGALEPLLPGPLLAVHPHAGTAP
  PANQLPWPVLCSPVAGVILLALGALLVLQLIRRRRREHGALWLPPGFTRRPRTQSAPHRR
  RPPLGEDSIGLKALKPKAEVDEDGVVMCSGPEEGEEVGQAEETGPPSTCQLWSLSGGCGA
  LPQAAMLTPPQESEMEAPDLDTRGPDGVTPLMSAVCCGEVQSGTFQGAWLGCPEPWEPLL
  DGGACPQAHTVGTGETPLHLAARFSRPTAARRLLEAGANPNQPDRAGRTPLHAAVAADAR
  EVCQLLLRSRQTAVDARTEDGTTPLMLAARLAVEDLVEELIAAQADVGARDKWGKTALHW
  AAAVNNARAARSLLQAGADKDAQDNREQTPLFLAAREGAVEVAQLLLGLGAARELRDQAG
  LAPADVAHQRNHWDLLTLLEGAGPPEARHKATPGREAGPFPRARTVSVSVPPHGGGALPR
  CRTLSAGAGPRGGGACLQARTWSVDLAARGGGAYSHCRSLSGVGAGGGPTPRGRRFSAGM
  RGPRPNPAIMRGRYGVAAGRGGRVSTDDWPCDWVALGACGSASNIPIPPPCLTPSPERGS
  PQLDCGPPALQEMPINQGGEGKK

• Sequence length: 2003

Pathways

KEGG:

Endocrine resistance
Notch signaling pathway
Thyroid hormone signaling pathway
Human papillomavirus infection
Pathways in cancer
MicroRNAs in cancer
Breast cancer

Reactome:

Pre-NOTCH Transcription and Translation
Pre-NOTCH Processing in Golgi
Notch-HLH transcription pathway
Defective LFNG causes SCDO3
NOTCH4 Intracellular Domain Regulates Transcription
NOTCH4 Activation and Transmission of Signal to the Nucleus
Negative regulation of NOTCH4 signaling

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)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Adrenocortical carcinoma, hereditary	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Aganglionic megacolon	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anophthalmia-microphthalmia syndrome	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ARTERIOVENOUS MALFORMATIONS, CEREBRAL	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ASTHMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATOPIC ASTHMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER	—	CTD, GWAS catalog CTD, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	Disgenet, GWAS catalog Disgenet, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BRONCHIECTASIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, PANCREATIC DUCTAL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, SQUAMOUS CELL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CELIAC DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CENTRAL SEROUS RETINOPATHY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cerebral arteriovenous malformation	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar GWAS catalog	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
CERVICAL CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC INTERSTITIAL CYSTITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CROHN'S DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CRYOGLOBULINEMIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, INSULIN-DEPENDENT	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial pancreatic carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLAUCOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMORRHAGIC FEVER WITH RENAL SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HIRSCHSPRUNG DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPOTHYROIDISM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INFLAMMATORY BOWEL DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTERSTITIAL LUNG DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KIDNEY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG ADENOCARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUPUS NEPHRITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MIGRAINE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MULTIPLE SCLEROSIS	—	Disgenet, GWAS catalog Disgenet, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OROFACIAL CLEFT	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSORIASIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSORIATIC ARTHRITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RHEUMATOID ARTHRITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SARCOIDOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	Disgenet, GWAS catalog Disgenet, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA, TREATMENT-RESISTANT	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SKIN NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SQUAMOUS CELL CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SQUAMOUS CELL LUNG CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SYSTEMIC LUPUS ERYTHEMATOSUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SYSTEMIC SCLERODERMA	—	Disgenet, GWAS catalog Disgenet, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 1 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ULCERATIVE COLITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenocarcinoma	Adenocarcinoma	BEFREE	28061457, 29769567		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of large intestine	Colorectal Cancer	GWASCAT_DG	30529582		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	GWASDB_DG	19836008		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	27196489		★☆☆☆☆ Found in Text Mining only
Adenoid Cystic Carcinoma	Adenocarcinoma	BEFREE	20596622, 23450325		★☆☆☆☆ Found in Text Mining only
Age related macular degeneration	Age-related macular degeneration	BEFREE	22694956		★☆☆☆☆ Found in Text Mining only
Age related macular degeneration	Age-related macular degeneration	GWASCAT_DG	22694956		★☆☆☆☆ Found in Text Mining only
Age related macular degeneration	Age-related macular degeneration	GWASDB_DG	22694956		★☆☆☆☆ Found in Text Mining only
Alopecia	Alopecia	BEFREE	12589427, 23318300		★☆☆☆☆ Found in Text Mining only
Alopecia Areata	Alopecia Areata	BEFREE	12589427, 23318300		★☆☆☆☆ Found in Text Mining only
Alopecia Areata	Alopecia Areata	LHGDN	12589427		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	14966150	Associate	★☆☆☆☆ Found in Text Mining only
Ameloblastoma	Ameloblastoma	BEFREE	20337864		★☆☆☆☆ Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA	Syndromic microphthalmia	BEFREE	27458977		★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety disorder	Pubtator	36814110	Associate	★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	18802018		★☆☆☆☆ Found in Text Mining only
Arthritis Psoriatic	Psoriatic arthritis	Pubtator	23161900	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	14730600, 19143814, 23161900, 26686423	Associate	★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	GWASDB_DG	21804548		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Asthma	Asthma	GWASCAT_DG	21804548		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Asthma	Asthma	Pubtator	21804548, 27177148, 31605414, 32929274, 39643224	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Asthma	Asthma	BEFREE	31148503		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Astrocytoma	Astrocytoma	Pubtator	19424825	Associate	★☆☆☆☆ Found in Text Mining only
Atrioventricular Septal Defect	Atrioventricular septal defect	Pubtator	33093519	Associate	★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune disease	Pubtator	32960812	Associate	★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar Disorder	BEFREE	11901359, 15384085, 23212060		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar Disorder	PSYGENET_DG	11901359, 15384085, 21987052, 23212060		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Brain Neoplasms	Brain neoplasms	Pubtator	19424825, 31483290	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	CTD_human_DG	21036696, 21679465		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	21679465, 23015403, 24919951, 25663545, 25704336, 26323259, 27550925, 28108315, 28617548, 29805613, 31379945		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	20030805, 21679465, 22965833, 24716804, 24919951, 25663545, 26323259, 28617548, 29807833, 34284787, 38087296	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CADASIL	Cadasil	Pubtator	23028706	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	12539049, 17948123		★☆☆☆☆ Found in Text Mining only
Carcinoma Adenoid Cystic	Adenoid cystic carcinoma	Pubtator	24238845	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Ductal	Ductal carcinoma	Pubtator	25120811	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	20165882, 28423575, 28568708, 33118329	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	34284787, 34870494	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Small Cell	Small cell carcinoma	Pubtator	28951314	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	26662955, 28415574		★☆☆☆☆ Found in Text Mining only
Carcinoma, Pancreatic Ductal	Pancreatic Ductal Carcinoma	CTD_human_DG	19208345		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy, Dilated	Cardiomyopathy	BEFREE	29577422		★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Familial Idiopathic	Cardiomyopathy	BEFREE	29577422		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	29767458		★☆☆☆☆ Found in Text Mining only
Celiac Disease	Celiac disease	Pubtator	36814110	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cerebrovascular accident	Stroke	BEFREE	29754932		★☆☆☆☆ Found in Text Mining only
CHARGE Syndrome	Charge syndrome	Pubtator	15710038	Associate	★☆☆☆☆ Found in Text Mining only
Child Development Disorders, Pervasive	Development Disorder	GWASCAT_DG	28540026		★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	Pubtator	25031748	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangitis Sclerosing	Sclerosing cholangitis	Pubtator	25521205	Associate	★☆☆☆☆ Found in Text Mining only
Cirrhosis	Cirrhosis	BEFREE	17696940		★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	37108670	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	29693251, 30026833		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	GWASCAT_DG	30529582		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	GWASCAT_DG	30529582		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	34284787	Associate	★☆☆☆☆ Found in Text Mining only
Congenital arteriovenous malformation	Congenital Arteriovenous Malformation	BEFREE	27231971		★☆☆☆☆ Found in Text Mining only
Cryoglobulinemia	Cryoglobulinemia	GWASCAT_DG	25030430		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Degenerative polyarthritis	Arthritis	BEFREE	11678296		★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	BEFREE	21297263		★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	Pubtator	21297263	Associate	★☆☆☆☆ Found in Text Mining only
Demyelinating Diseases	Demyelinating Diseases	BEFREE	23549433		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 1	Diabetes mellitus, type 1	Pubtator	19143814	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	GWASDB_DG	17632545		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diffuse Astrocytoma	Astrocytoma	BEFREE	24305720		★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down syndrome	Pubtator	33093519	Associate	★☆☆☆☆ Found in Text Mining only
Early onset schizophrenia	Schizophrenia	BEFREE	16894623, 16969274		★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	11078798		★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	BEFREE	25546156		★☆☆☆☆ Found in Text Mining only
Familial Mediterranean Fever	Familial mediterranean fever	Pubtator	31957891	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	23787764, 26472724	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	24305720		★☆☆☆☆ Found in Text Mining only
Glycogen Storage Disease Type II	Glycogen storage disease	Pubtator	37079300	Associate	★☆☆☆☆ Found in Text Mining only
Graves Disease	Graves Disease	BEFREE	22066479		★☆☆☆☆ Found in Text Mining only
Graves Disease	Graves disease	Pubtator	24684463	Associate	★☆☆☆☆ Found in Text Mining only
Headache	Headache	Pubtator	23566281	Associate	★☆☆☆☆ Found in Text Mining only
Hemophilia A	Hemophilia a	Pubtator	16460442	Associate	★☆☆☆☆ Found in Text Mining only
Inclusion Body Myopathy, Sporadic	Inclusion body myopathy	BEFREE	22732452		★☆☆☆☆ Found in Text Mining only
Invasive Ductal Breast Carcinoma	Invasive Duct and Lobular Carcinoma	BEFREE	25120811		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	BEFREE	31727625		★☆☆☆☆ Found in Text Mining only
Leiomyosarcoma	Leiomyosarcoma	Pubtator	35682660	Associate	★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	14737070		★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	31551439	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	31551439		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	17696940, 17920003, 19304334, 26530164, 27840976, 28568708		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	LHGDN	17920003		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver Cirrhosis	BEFREE	17696940		★☆☆☆☆ Found in Text Mining only
Lung diseases	Lung Diseases	BEFREE	30173367		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	39595659	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	26686423	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	23084292		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	GWASDB_DG	24871463		★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	30593175	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoma, Non-Hodgkin	Non-Hodgkin lymphoma	BEFREE	29069725		★☆☆☆☆ Found in Text Mining only
Lymphoproliferative Disorders	Lymphoproliferative Disorder	BEFREE	29069725		★☆☆☆☆ Found in Text Mining only
Macular Degeneration	Macular degeneration	Pubtator	22694956	Associate	★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 1	Major Affective Disorder	BEFREE	15384085		★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 2	Major Affective Disorder	BEFREE	15384085		★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 4	Major Affective Disorder	BEFREE	15384085		★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 6	Major Affective Disorder	BEFREE	15384085		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	CTD_human_DG	21036696, 21679465		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	21679465, 23015403, 24919951, 25663545, 25704336, 26323259, 26387946, 28108315, 28617548, 29805613, 31379945		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of endometrium	Endometrial Cancer	BEFREE	11078798		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of large intestine	Colorectal Neoplasms	GWASCAT_DG	30529582		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	GWASDB_DG	22899653		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	26662955, 28415574		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	28374086		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of skin	Skin cancer	CTD_human_DG	27923803		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	25663545, 26387946, 27197026		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	GWASCAT_DG	30529582		★☆☆☆☆ Found in Text Mining only
Mammary Carcinoma, Human	Marfan Syndrome	CTD_human_DG	21036696, 21679465		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	LHGDN	17822320		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	CTD_human_DG	21036696, 21679465		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms, Human	Mammary Neoplasms	CTD_human_DG	21036696, 21679465		★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	Pubtator	19424825	Associate	★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	21159651, 26801977, 27234159		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	21159651, 26801977, 27234159, 34284787, 35967450	Associate	★☆☆☆☆ Found in Text Mining only
Migraine Disorders	Migraine	BEFREE	23566281		★☆☆☆☆ Found in Text Mining only
Migraine Disorders	Migraine	Pubtator	23566281, 36814110	Associate	★☆☆☆☆ Found in Text Mining only
Mood Disorders	Mood Disorder	LHGDN	16378929		★☆☆☆☆ Found in Text Mining only
Mucocutaneous Lymph Node Syndrome	Kawasaki disease	BEFREE	28587423		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	14651518, 21654846, 23549433		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Multiple Sclerosis	Multiple Sclerosis	GWASDB_DG	17660530, 20598377		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Multiple Sclerosis	Multiple sclerosis	Pubtator	21654846	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myasthenia Gravis	Myasthenia Gravis	GWASDB_DG	23055271		★☆☆☆☆ Found in Text Mining only
Narcolepsy	Narcolepsy	GWASDB_DG	19629137		★☆☆☆☆ Found in Text Mining only
Narcolepsy	Narcolepsy	BEFREE	9458119		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	16951162, 17493263, 17948123, 19147748, 20337864, 23450325, 23666970, 24403446, 26387946, 26801977, 29057904, 29162408, 29693251, 29805613, 30593175, 8561865		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	28061457, 30593175		★☆☆☆☆ Found in Text Mining only
Noninfiltrating Intraductal Carcinoma	Ductal carcinoma	BEFREE	25120811		★☆☆☆☆ Found in Text Mining only
Oral Submucous Fibrosis	Oral Submucous Fibrosis	BEFREE	24969693		★☆☆☆☆ Found in Text Mining only
Oral Ulcer	Oral Ulcer	GWASCAT_DG	30837455		★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	26662955, 28415574		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	28415574, 37796700	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	16327489, 33498866	Associate	★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	30833663		★☆☆☆☆ Found in Text Mining only
Pemphigus Vulgaris	Pemphigus Vulgaris	GWASDB_DG	22437316		★☆☆☆☆ Found in Text Mining only
Precursor B-cell lymphoblastic leukemia	Lymphoblastic Leukemia	BEFREE	30563887		★☆☆☆☆ Found in Text Mining only
Presenile dementia	Senile Dementia	BEFREE	21297263		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	28374086		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Intraepithelial Neoplasia	Prostatic intraepithelial neoplasia	Pubtator	26341090	Associate	★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	BEFREE	23587900, 28256194		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Psoriasis vulgaris	Psoriasis vulgaris	BEFREE	23587900		★☆☆☆☆ Found in Text Mining only
Psychotic Disorders	Psychosis	BEFREE	11407996		★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	27117828, 29874112, 32753590	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary Fibrosis	Pulmonary Fibrosis	LHGDN	17496152		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	11678296, 14586405, 19143814, 23318300, 23364395		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Rheumatoid Arthritis	Rheumatoid arthritis	GWASDB_DG	17804836, 19503088, 21156761		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Salivary Gland Neoplasms	Salivary gland neoplasm	BEFREE	9243759		★☆☆☆☆ Found in Text Mining only
Sarcoidosis	Sarcoidosis	GWASDB_DG	22952805		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoidosis	Sarcoidosis	Pubtator	22952805, 33276795	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma Alveolar Soft Part	Sarcoma	Pubtator	35628499	Associate	★☆☆☆☆ Found in Text Mining only
Schizoaffective Disorder	Schizoaffective Disorder	BEFREE	11239712		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	10932176, 11239712, 11381257, 11381258, 11407996, 11803454, 11901359, 12605097, 12627456, 12627457, 12782960, 12873802, 14729256, 14732589, 14755442, 15009827, 15091315, 15115916, 15211628, 15384085, 15389759, 15653273, 15820317, 16538185, 16894623, 16969274, 17054719, 17192952, 20954426, 21085055, 21987052, 22488909, 23053058, 23212060, 23395714, 23894747, 24132896, 25142293, 25529856, 26605328		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	LHGDN	11803454, 12627456, 12782960, 15009827, 15091315, 16378929, 16894623, 17054719, 17192952		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	GWASDB_DG	19571808, 21791550, 23894747		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	GWASCAT_DG	19571808, 23894747, 28540026, 30285260		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	PSYGENET_DG	21085055, 23053058, 23395714, 25529856		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	Pubtator	23395714, 36814110	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Scleroderma Systemic	Systemic sclerosis	Pubtator	25569146	Associate	★☆☆☆☆ Found in Text Mining only
Seminoma	Seminoma	BEFREE	16466543		★☆☆☆☆ Found in Text Mining only
Sjogren's Syndrome	Sjogren syndrome	Pubtator	26686423	Associate	★☆☆☆☆ Found in Text Mining only
Skin Neoplasms	Skin Neoplasms	CTD_human_DG	27923803		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Squamous cell carcinoma	Carcinoma	BEFREE	27197026, 28061457, 29162408		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Squamous cell carcinoma	Carcinoma	CTD_human_DG	27923803		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	23287992, 29146722, 29162408, 31093971	Associate	★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	27363496, 31399040, 32028262, 34925644	Associate	★☆☆☆☆ Found in Text Mining only
Systemic Scleroderma	Scleroderma	GWASDB_DG	20383147, 21779181		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Systemic Scleroderma	Scleroderma	BEFREE	21779181, 27829420		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Systemic Scleroderma	Scleroderma	GWASCAT_DG	21779181		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Tetralogy of Fallot	Tetralogy of fallot	Pubtator	33000281	Associate	★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	23593654, 24403446, 29805613, 30679159, 31379945		★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	34284787	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Diseases	Uterine polyp	Pubtator	18691378	Associate	★☆☆☆☆ Found in Text Mining only
Vasculitis	Vasculitis	BEFREE	25030430		★☆☆☆☆ Found in Text Mining only
Vasculitis	Vasculitis	Pubtator	25030430, 32960812, 33721342	Associate	★☆☆☆☆ Found in Text Mining only
Vitiligo	Vitiligo	GWASDB_DG	20526339		★☆☆☆☆ Found in Text Mining only