CLDN1 (claudin 1)

Gene

• Entrez ID: 9076
• Gene name: Claudin 1
• Gene symbol: CLDN1
• Synonyms (NCBI Gene): CLD1, ILVASC, SEMP1
• Chromosome: 3
• Chromosome location: 3q28
• Summary: Tight junctions represent one mode of cell-to-cell adhesion in epithelial or endothelial cell sheets, forming continuous seals around cells and serving as a physical barrier to prevent solutes and water from passing freely through the paracellular space.

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT001558	hsa-miR-155-5p	pSILAC	18668040
MIRT017510	hsa-miR-335-5p	Microarray	18185580
MIRT019768	hsa-miR-375	Microarray	20215506
MIRT001558	hsa-miR-155-5p	Proteomics;Other	18668040
MIRT048360	hsa-miR-29b-3p	CLASH	23622248
MIRT001558	hsa-miR-155-5p	Immunocytochemistry, Immunohistochemistry, In situ hybridization, Luciferase reporter assay, Microarray, qRT-PCR, Western blot	24604078
MIRT719050	hsa-miR-1243	HITS-CLIP	19536157
MIRT719049	hsa-miR-1285-5p	HITS-CLIP	19536157
MIRT719048	hsa-miR-5003-5p	HITS-CLIP	19536157
MIRT719046	hsa-miR-4286	HITS-CLIP	19536157
MIRT719047	hsa-miR-1304-3p	HITS-CLIP	19536157
MIRT719045	hsa-miR-653-3p	HITS-CLIP	19536157
MIRT659488	hsa-miR-548c-3p	HITS-CLIP	23824327
MIRT659487	hsa-miR-141-5p	HITS-CLIP	23824327
MIRT659486	hsa-miR-3688-3p	HITS-CLIP	23824327
MIRT659484	hsa-miR-4461	HITS-CLIP	23824327
MIRT659485	hsa-miR-1470	HITS-CLIP	23824327
MIRT659483	hsa-miR-4667-3p	HITS-CLIP	23824327
MIRT659482	hsa-miR-3928-3p	HITS-CLIP	23824327
MIRT659481	hsa-miR-3148	HITS-CLIP	23824327
MIRT659480	hsa-miR-6124	HITS-CLIP	23824327
MIRT659479	hsa-miR-642a-5p	HITS-CLIP	23824327
MIRT659478	hsa-miR-337-3p	HITS-CLIP	23824327
MIRT659477	hsa-miR-3915	HITS-CLIP	23824327
MIRT659476	hsa-miR-1224-5p	HITS-CLIP	23824327
MIRT659475	hsa-miR-4689	HITS-CLIP	23824327
MIRT659474	hsa-miR-6858-5p	HITS-CLIP	23824327
MIRT495916	hsa-miR-548u	PAR-CLIP	22291592
MIRT495915	hsa-miR-7161-5p	PAR-CLIP	22291592
MIRT495914	hsa-miR-376c-3p	PAR-CLIP	22291592
MIRT495913	hsa-miR-3117-5p	PAR-CLIP	22291592
MIRT495916	hsa-miR-548u	PAR-CLIP	22291592
MIRT495915	hsa-miR-7161-5p	PAR-CLIP	22291592
MIRT495914	hsa-miR-376c-3p	PAR-CLIP	22291592
MIRT495913	hsa-miR-3117-5p	PAR-CLIP	22291592
MIRT484231	hsa-miR-338-5p	PAR-CLIP	23592263
MIRT484230	hsa-miR-10b-3p	PAR-CLIP	23592263
MIRT484228	hsa-miR-5100	PAR-CLIP	23592263
MIRT484229	hsa-miR-3942-3p	PAR-CLIP	23592263
MIRT731836	hsa-miR-142-5p	Luciferase reporter assay, qRT-PCR	27277258
MIRT731836	hsa-miR-142-5p	Luciferase reporter assay, qRT-PCR	27277258
MIRT732739	hsa-miR-34c-3p	Immunohistochemistry (IHC), Luciferase reporter assay, qRT-PCR, Western blotting	32586280
MIRT719050	hsa-miR-1243	HITS-CLIP	19536157
MIRT719049	hsa-miR-1285-5p	HITS-CLIP	19536157
MIRT719048	hsa-miR-5003-5p	HITS-CLIP	19536157
MIRT719046	hsa-miR-4286	HITS-CLIP	19536157
MIRT719047	hsa-miR-1304-3p	HITS-CLIP	19536157
MIRT719045	hsa-miR-653-3p	HITS-CLIP	19536157
MIRT659488	hsa-miR-548c-3p	HITS-CLIP	23824327
MIRT659487	hsa-miR-141-5p	HITS-CLIP	23824327
MIRT659486	hsa-miR-3688-3p	HITS-CLIP	23824327
MIRT659484	hsa-miR-4461	HITS-CLIP	23824327
MIRT659485	hsa-miR-1470	HITS-CLIP	23824327
MIRT659483	hsa-miR-4667-3p	HITS-CLIP	23824327
MIRT659482	hsa-miR-3928-3p	HITS-CLIP	23824327
MIRT659481	hsa-miR-3148	HITS-CLIP	23824327
MIRT659480	hsa-miR-6124	HITS-CLIP	23824327
MIRT659479	hsa-miR-642a-5p	HITS-CLIP	23824327
MIRT659478	hsa-miR-337-3p	HITS-CLIP	23824327
MIRT659477	hsa-miR-3915	HITS-CLIP	23824327
MIRT659476	hsa-miR-1224-5p	HITS-CLIP	23824327
MIRT659475	hsa-miR-4689	HITS-CLIP	23824327
MIRT659474	hsa-miR-6858-5p	HITS-CLIP	23824327
MIRT495916	hsa-miR-548u	PAR-CLIP	22291592
MIRT495915	hsa-miR-7161-5p	PAR-CLIP	22291592
MIRT495914	hsa-miR-376c-3p	PAR-CLIP	22291592
MIRT495913	hsa-miR-3117-5p	PAR-CLIP	22291592
MIRT495916	hsa-miR-548u	PAR-CLIP	22291592
MIRT495915	hsa-miR-7161-5p	PAR-CLIP	22291592
MIRT495914	hsa-miR-376c-3p	PAR-CLIP	22291592
MIRT495913	hsa-miR-3117-5p	PAR-CLIP	22291592
MIRT484231	hsa-miR-338-5p	PAR-CLIP	23592263
MIRT484230	hsa-miR-10b-3p	PAR-CLIP	23592263
MIRT484228	hsa-miR-5100	PAR-CLIP	23592263
MIRT484229	hsa-miR-3942-3p	PAR-CLIP	23592263
MIRT895115	hsa-miR-1206	CLIP-seq
MIRT895116	hsa-miR-124	CLIP-seq
MIRT895117	hsa-miR-3125	CLIP-seq
MIRT895118	hsa-miR-3129-3p	CLIP-seq
MIRT895119	hsa-miR-3164	CLIP-seq
MIRT895120	hsa-miR-376c	CLIP-seq
MIRT895121	hsa-miR-3916	CLIP-seq
MIRT895122	hsa-miR-4476	CLIP-seq
MIRT895123	hsa-miR-4693-3p	CLIP-seq
MIRT895124	hsa-miR-4712-3p	CLIP-seq
MIRT895125	hsa-miR-4724-5p	CLIP-seq
MIRT895126	hsa-miR-506	CLIP-seq
MIRT895127	hsa-miR-600	CLIP-seq
MIRT1965411	hsa-miR-3119	CLIP-seq
MIRT1965412	hsa-miR-4659a-3p	CLIP-seq
MIRT1965413	hsa-miR-4659b-3p	CLIP-seq
MIRT2201379	hsa-miR-3976	CLIP-seq
MIRT895116	hsa-miR-124	CLIP-seq
MIRT895126	hsa-miR-506	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001618	Function	Virus receptor activity	IEA
GO:0001618	Function	Virus receptor activity	IMP	20375010
GO:0005198	Function	Structural molecule activity	IEA
GO:0005515	Function	Protein binding	IPI	20375010, 25323998, 25849148, 26607202, 32296183
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	11090614
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	IMP	23407391
GO:0005911	Component	Cell-cell junction	IEA
GO:0005923	Component	Bicellular tight junction	IBA
GO:0005923	Component	Bicellular tight junction	IDA	20375010, 23407391, 25849148
GO:0005923	Component	Bicellular tight junction	IEA
GO:0005923	Component	Bicellular tight junction	ISS
GO:0005923	Component	Bicellular tight junction	TAS	9931503
GO:0007155	Process	Cell adhesion	IBA
GO:0008065	Process	Establishment of blood-nerve barrier	IEA
GO:0009636	Process	Response to toxic substance	IEA
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	TAS	9931503
GO:0016323	Component	Basolateral plasma membrane	IDA	20375010
GO:0016323	Component	Basolateral plasma membrane	IEA
GO:0016324	Component	Apical plasma membrane	IEA
GO:0016328	Component	Lateral plasma membrane	IEA
GO:0016338	Process	Calcium-independent cell-cell adhesion via plasma membrane cell-adhesion molecules	IEA
GO:0016338	Process	Calcium-independent cell-cell adhesion via plasma membrane cell-adhesion molecules	ISS
GO:0030054	Component	Cell junction	IEA
GO:0030335	Process	Positive regulation of cell migration	IMP	28412298
GO:0032496	Process	Response to lipopolysaccharide	IEA
GO:0032991	Component	Protein-containing complex	IDA	25849148, 26607202
GO:0034331	Process	Cell junction maintenance	IEA
GO:0034331	Process	Cell junction maintenance	ISS
GO:0035633	Process	Maintenance of blood-brain barrier	NAS	30280653
GO:0042802	Function	Identical protein binding	IEA
GO:0042802	Function	Identical protein binding	IPI	25849148
GO:0042802	Function	Identical protein binding	ISS
GO:0045216	Process	Cell-cell junction organization	IMP	20164257
GO:0045471	Process	Response to ethanol	IEA
GO:0046718	Process	Symbiont entry into host cell	IEA
GO:0051259	Process	Protein complex oligomerization	IDA	23704991
GO:0060054	Process	Positive regulation of epithelial cell proliferation involved in wound healing	IMP	28412298
GO:0061436	Process	Establishment of skin barrier	IEA
GO:0061436	Process	Establishment of skin barrier	IMP	23407391
GO:0061772	Process	Xenobiotic transport across blood-nerve barrier	IEA
GO:0070160	Component	Tight junction	IDA	30734065
GO:0070160	Component	Tight junction	IEA
GO:0070161	Component	Anchoring junction	IEA
GO:0070673	Process	Response to interleukin-18	IEA
GO:0070830	Process	Bicellular tight junction assembly	IBA
GO:0070830	Process	Bicellular tight junction assembly	IMP	25849148, 26607202
GO:0071284	Process	Cellular response to lead ion	IEA
GO:0071346	Process	Cellular response to type II interferon	IEA
GO:0071356	Process	Cellular response to tumor necrosis factor	IEA
GO:0071548	Process	Response to dexamethasone	IEA
GO:0071560	Process	Cellular response to transforming growth factor beta stimulus	IEA
GO:0090303	Process	Positive regulation of wound healing	IMP	28412298
GO:0090557	Process	Establishment of endothelial intestinal barrier	IEA
GO:0097421	Process	Liver regeneration	IEA
GO:1903348	Process	Positive regulation of bicellular tight junction assembly	IEA
GO:1903545	Process	Cellular response to butyrate	IEA

Other IDs

• MIM: 603718
• HGNC: 2032
• e!Ensembl: ENSG00000163347

Protein

• UniProt ID: O95832
• Protein name: Claudin-1 (Senescence-associated epithelial membrane protein)
• Protein function: Claudins function as major constituents of the tight junction complexes that regulate the permeability of epithelia. While some claudin family members play essential roles in the formation of impermeable barriers, others mediate the permeability
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00822	PMP22_Claudin	4 → 182	PMP-22/EMP/MP20/Claudin family	Family

• Tissue specificity: TISSUE SPECIFICITY: Strongly expressed in liver and kidney. Expressed in heart, brain, spleen, lung and testis. {ECO:0000269|PubMed:9931503}.
• Sequence:

  MANAGLQLLGFILAFLGWIGAIVSTALPQWRIYSYAGDNIVTAQAMYEGLWMSCVSQSTG
  QIQCKVFDSLLNLSSTLQATRALMVVGILLGVIAIFVATVGMKCMKCLEDDEVQKMRMAV
  IGGAIFLLAGLAILVATAWYGNRIVQEFYDPMTPVNARYEFGQALFTGWAAASLCLLGGA
  LLCCSCPRKTTSYPTPRPYPKPAPSSGKDYV

• Sequence length: 211

Pathways

KEGG:

Virion - Hepatitis viruses
Cell adhesion molecules
Tight junction
Leukocyte transendothelial migration
Pathogenic Escherichia coli infection
Hepatitis C

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
Neonatal ichthyosis-sclerosing cholangitis syndrome	Pathogenic; Likely pathogenic	rs773766654, rs864309516, rs864309517, rs1402621591	RCV001780515 RCV000006461 RCV000006462 RCV003985973	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
BREAST NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, SQUAMOUS CELL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CLDN1-related disorder	Uncertain significance; Conflicting classifications of pathogenicity; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONTACT DERMATITIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CROHNS DISEASE OF LARGE BOWEL	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DERMATITIS, ATOPIC	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DERMATITIS, CONTACT	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ENDOMETRIOSIS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LYMPHATIC METASTASIS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MOUTH NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SQUAMOUS CELL CARCINOMA OF HEAD AND NECK	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acanthosis Nigricans	Acanthosis Nigricans	HPO_DG			★☆☆☆☆ Found in Text Mining only
Actinic keratosis	Actinic keratosis	BEFREE	30315595		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	17585317, 19414319, 23385421, 30227306		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	LHGDN	17585317, 18756604		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of colon	Adenocarcinoma Of Colon	BEFREE	21878201		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	18787218, 23591077, 25562426, 27766775, 29524521		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma, Oxyphilic	Adenocarcinoma	BEFREE	27268919		★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	LHGDN	18711353		★☆☆☆☆ Found in Text Mining only
Adult Craniopharyngioma	Craniopharyngioma	BEFREE	24305709		★☆☆☆☆ Found in Text Mining only
AICARDI-GOUTIERES SYNDROME	Aicardi Goutieres Syndrome	BEFREE	27914788		★☆☆☆☆ Found in Text Mining only
Alopecia	Alopecia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Alzheimer disease, familial, type 3	Alzheimer disease	BEFREE	26319240		★☆☆☆☆ Found in Text Mining only
Ameloblastoma	Ameloblastoma	Pubtator	31473941	Associate	★☆☆☆☆ Found in Text Mining only
Anaplasia	Anaplasia	BEFREE	19881542		★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	28901429		★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	Pubtator	37964516	Associate	★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	28901429		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	Pubtator	28901429	Stimulate	★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorder	Autism	Pubtator	27957319	Associate	★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	30506722, 30675228		★☆☆☆☆ Found in Text Mining only
Barth Syndrome	Barth syndrome	Pubtator	24318983	Associate	★☆☆☆☆ Found in Text Mining only
Benign Neoplasm	Benign Neoplasm	BEFREE	29955965		★☆☆☆☆ Found in Text Mining only
Biliary Tract Neoplasms	Biliary tract neoplasms	Pubtator	18854598	Associate	★☆☆☆☆ Found in Text Mining only
Brain Edema	Brain edema	Pubtator	39189437	Associate	★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain neoplasms	Pubtator	19578981	Associate	★☆☆☆☆ Found in Text Mining only
Breast Cancer, Familial	Breast Cancer	BEFREE	11071387		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	11071387, 11920682, 14648703, 15743508, 16232121, 17611630, 18204077, 22941467, 23426649, 25393310, 25727011, 26067567, 27649506, 29684479, 31467400, 31572543, 31717460, 9931503		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	CTD_human_DG	19579870, 24014025		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	15743508, 27649506	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Neoplasms	Breast neoplasm	Pubtator	20490282, 20937153, 22464177, 22941467, 23721519, 23844228, 26067567, 27649506, 31467400, 34715746	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carcinogenesis	Carcinogenesis	Pubtator	15800679, 19414319, 21821115, 22408413, 22776839, 27742576, 31177095, 35114976, 37203104	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	14648703		★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	18234789, 19052094, 19776133, 19897486, 23385421, 23391410, 24696415, 26157141, 28617312, 28978646, 29538454, 32034780, 38308285	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma in Situ	Carcinoma in situ	Pubtator	23591077	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Medullary	Medullary carcinoma	Pubtator	17962811	Inhibit	★☆☆☆☆ Found in Text Mining only
Carcinoma Medullary	Medullary carcinoma	Pubtator	37203104	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of larynx	Laryngeal carcinoma	BEFREE	31115553		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	25562426		★☆☆☆☆ Found in Text Mining only
Carcinoma Ovarian Epithelial	Epithelial ovarian carcinoma	Pubtator	19440550	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	19578981, 29607933	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	17585317, 24070899, 27687058, 31551535, 32518268, 34171074	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	24294371	Inhibit	★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	19440550, 23523916		★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	30504279, 31576512		★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	27974683		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervix carcinoma	Cervix carcinoma	BEFREE	27974683		★☆☆☆☆ Found in Text Mining only
Cholangitis	Cholangitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cholestasis	Cholestasis	BEFREE	22030598		★☆☆☆☆ Found in Text Mining only
Cholesteatoma	Cholesteatoma	BEFREE	25319490		★☆☆☆☆ Found in Text Mining only
Chronic rhinosinusitis with nasal polyps	Rhinosinusitis With Nasal Polyps	BEFREE	30142324		★☆☆☆☆ Found in Text Mining only
Chronic venous insufficiency	Venous Insufficiency	BEFREE	16786176		★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	Pubtator	27742576	Associate	★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	BEFREE	30269272, 30946611, 30971761, 31417178		★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	15965503, 17047970, 17308096, 19414319, 19881542, 22719836, 23880304, 24479816, 29504115, 31077946		★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic Neoplasms	LHGDN	15965503		★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	17959672, 21878201, 27742576	Associate	★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic Neoplasms	BEFREE	21878201		★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	22776839	Inhibit	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	11939410, 17047970, 17308096, 17970035, 19414319, 21294205, 21720707, 23588589, 28192244, 28659146, 29307823, 30506722, 30683478, 30938860		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	LHGDN	11939410, 16253248, 17047970		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	15475928, 16253248, 17970035, 19881542, 21878201, 22719836, 22941059, 23682078, 23880304, 25038829, 26894861, 27742576, 28381183, 28759954, 31137244, 32071364, 33572952, 35114976, 35892269, 36991484	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	19414319	Stimulate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	BEFREE	31077946		★☆☆☆☆ Found in Text Mining only
Congenital ichthyosis	Congenital Ichthyosis	BEFREE	15521008		★☆☆☆☆ Found in Text Mining only
Constipation	Constipation	Pubtator	25998845	Stimulate	★☆☆☆☆ Found in Text Mining only
Contact Dermatitis	Dermatitis	BEFREE	23136956		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Contact Dermatitis	Dermatitis	CTD_human_DG	23136956		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	24305709		★☆☆☆☆ Found in Text Mining only
Corneal dystrophy, Lattice type 3	Corneal Dystrophy	BEFREE	17325151		★☆☆☆☆ Found in Text Mining only
Craniopharyngioma	Craniopharyngioma	BEFREE	24305709		★☆☆☆☆ Found in Text Mining only
Craniopharyngioma	Craniopharyngioma	Pubtator	24305709	Associate	★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn disease	Pubtator	39201543	Associate	★☆☆☆☆ Found in Text Mining only
Cystitis Interstitial	Interstitial cystitis	Pubtator	21352500	Associate	★☆☆☆☆ Found in Text Mining only
Dementia, Vascular	Dementia	BEFREE	28273404		★☆☆☆☆ Found in Text Mining only
Demyelinating Diseases	Demyelinating diseases	Pubtator	26662145, 34008771	Associate	★☆☆☆☆ Found in Text Mining only
Dental Enamel Hypoplasia	Dental Enamel Hypoplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dermatitis Allergic Contact	Allergic contact dermatitis	Pubtator	31783056	Inhibit	★☆☆☆☆ Found in Text Mining only
Dermatitis Atopic	Atopic dermatitis	Pubtator	21163515, 32029783, 37734479	Inhibit	★☆☆☆☆ Found in Text Mining only
Dermatitis Atopic	Atopic dermatitis	Pubtator	26319240, 35770317	Associate	★☆☆☆☆ Found in Text Mining only
Dermatitis, Atopic	Dermatitis	BEFREE	21163515, 26319240, 26385242, 27342862, 27581203, 29534857, 31794090		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus Type 1	Diabetes mellitus, type 1	Pubtator	21762372	Stimulate	★☆☆☆☆ Found in Text Mining only
Diabetic Retinopathy	Diabetic Retinopathy	BEFREE	28730076, 30268667		★☆☆☆☆ Found in Text Mining only
Diarrhea	Diarrhea	Pubtator	25998845	Inhibit	★☆☆☆☆ Found in Text Mining only
Diarrhea	Diarrhea	Pubtator	38132165	Associate	★☆☆☆☆ Found in Text Mining only
Ductal Carcinoma	Ductal Carcinoma	BEFREE	20963473, 23426649		★☆☆☆☆ Found in Text Mining only
Dysentery	Dysentery	Pubtator	38132165	Inhibit	★☆☆☆☆ Found in Text Mining only
Ectodermal Dysplasia	Ectodermal dysplasia	Pubtator	37621953	Associate	★☆☆☆☆ Found in Text Mining only
Eczema	Eczema	BEFREE	21163515, 26319240, 26385242, 27342862, 27581203, 29534857, 31794090		★☆☆☆☆ Found in Text Mining only
Eczema	Eczema	Pubtator	26319240	Associate	★☆☆☆☆ Found in Text Mining only
Endometrial adenocarcinoma	Endometrial Adenocarcinoma	BEFREE	16797678		★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	29151917		★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	31692912	Associate	★☆☆☆☆ Found in Text Mining only
Endometrioma	Endometrioma	CTD_human_DG	20864642		★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	CTD_human_DG	20864642		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Eosinophilic esophagitis	Eosinophilia	BEFREE	30211842, 31264974		★☆☆☆☆ Found in Text Mining only
Eosinophilic Esophagitis	Eosinophilia	Pubtator	30211842	Associate	★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophagus Neoplasm	LHGDN	18480547		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophageal neoplasm	Pubtator	18480547	Associate	★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	18480547, 34722771	Associate	★☆☆☆☆ Found in Text Mining only
Follicular adenoma	Adenoma	BEFREE	28529587		★☆☆☆☆ Found in Text Mining only
Follicular thyroid carcinoma	Follicular Thyroid Carcinoma	BEFREE	26219679, 28529587		★☆☆☆☆ Found in Text Mining only
Gallbladder Carcinoma	Gallbladder cancer	BEFREE	30675228		★☆☆☆☆ Found in Text Mining only
Gastric Adenocarcinoma	Gastric Cancer	BEFREE	27914788		★☆☆☆☆ Found in Text Mining only
Gastroesophageal Reflux	Gastroesophageal reflux disease	Pubtator	22994974, 29558791	Associate	★☆☆☆☆ Found in Text Mining only
Gastroesophageal Reflux	Gastroesophageal reflux disease	Pubtator	39719586	Inhibit	★☆☆☆☆ Found in Text Mining only
Gastroesophageal reflux disease	Gastroesophageal Reflux Disease	BEFREE	22994974		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	15820559, 25345514		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	LHGDN	15820559		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	25345514	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	15820559, 25345514		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	25345514	Associate	★☆☆☆☆ Found in Text Mining only
Glycosuria Renal	Renal glycosuria	Pubtator	18587324, 19073886	Associate	★☆☆☆☆ Found in Text Mining only
Graves Disease	Graves Disease	BEFREE	29924048		★☆☆☆☆ Found in Text Mining only
Hashimoto Disease	Hashimoto disease	Pubtator	25550843, 27277258	Associate	★☆☆☆☆ Found in Text Mining only
Hashimoto Disease	Hashimoto Disease	BEFREE	27277258, 29924048		★☆☆☆☆ Found in Text Mining only
Hay-Wells syndrome	Hay-Wells syndrome	BEFREE	30486816		★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	39719586	Associate	★☆☆☆☆ Found in Text Mining only
Hepatitis C	Hepatitis c	Pubtator	26519290, 31561440, 32034780	Associate	★☆☆☆☆ Found in Text Mining only
Hepatoblastoma	Hepatoblastoma	BEFREE	16647953		★☆☆☆☆ Found in Text Mining only
Hereditary Breast and Ovarian Cancer Syndrome	Hereditary breast and ovarian cancer syndrome	Pubtator	20490282, 31044387	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary pancreatitis	Hereditary Pancreatitis	BEFREE	15668900		★☆☆☆☆ Found in Text Mining only
Hypodontia	Hypodontia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypotrichosis	Hypotrichosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	29524521	Stimulate	★☆☆☆☆ Found in Text Mining only
Hypoxic-Ischemic Encephalopathy	Hypoxic-Ischemic Encephalopathy	BEFREE	30050428		★☆☆☆☆ Found in Text Mining only
Ichthyoses	Ichthyosis	BEFREE	15521008		★☆☆☆☆ Found in Text Mining only
Ichthyoses	Ichthyosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ichthyosis	Ichthyosis	Pubtator	29803800	Associate	★☆☆☆☆ Found in Text Mining only
ICHTHYOSIS, LEUKOCYTE VACUOLES, ALOPECIA, AND SCLEROSING CHOLANGITIS	Ichthyosis-Sclerosing Cholangitis Syndrome	BEFREE	15521008, 15768832, 16619213, 22030598, 30143655		★☆☆☆☆ Found in Text Mining only
ICHTHYOSIS, LEUKOCYTE VACUOLES, ALOPECIA, AND SCLEROSING CHOLANGITIS	Ichthyosis-Sclerosing Cholangitis Syndrome	ORPHANET_DG	15521008		★☆☆☆☆ Found in Text Mining only
ICHTHYOSIS, LEUKOCYTE VACUOLES, ALOPECIA, AND SCLEROSING CHOLANGITIS	Ichthyosis-Sclerosing Cholangitis Syndrome	GENOMICS_ENGLAND_DG	29146216		★☆☆☆☆ Found in Text Mining only
ICHTHYOSIS, LEUKOCYTE VACUOLES, ALOPECIA, AND SCLEROSING CHOLANGITIS	Ichthyosis-Sclerosing Cholangitis Syndrome	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
ICHTHYOSIS, LEUKOCYTE VACUOLES, ALOPECIA, AND SCLEROSING CHOLANGITIS	Ichthyosis-Sclerosing Cholangitis Syndrome	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Idiopathic pulmonary arterial hypertension	Pulmonary arterial hypertension	BEFREE	28292027		★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Idiopathic pulmonary fibrosis	Pubtator	18955738	Associate	★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	LHGDN	18711353		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory bowel disease	Pubtator	18711353	Stimulate	★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory bowel disease	Pubtator	23946598	Associate	★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	30971761		★☆☆☆☆ Found in Text Mining only
Intestinal Diseases	Intestinal disease	Pubtator	21915437	Associate	★☆☆☆☆ Found in Text Mining only
Intraepithelial Neoplasia	Intraepithelial Neoplasia	BEFREE	27436828, 31161679		★☆☆☆☆ Found in Text Mining only
Irritable Bowel Syndrome	Irritable Bowel Syndrome	BEFREE	22008894, 30971761		★☆☆☆☆ Found in Text Mining only
Irritable Bowel Syndrome	Irritable bowel syndrome	Pubtator	25930081, 25998845, 33843785, 38132165	Associate	★☆☆☆☆ Found in Text Mining only
Irritable Bowel Syndrome	Irritable bowel syndrome	Pubtator	39551069	Inhibit	★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney disease	Pubtator	38255818	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Failure	Kidney Failure	BEFREE	31411705		★☆☆☆☆ Found in Text Mining only
Laryngeal Neoplasms	Laryngeal neoplasm	Pubtator	31115553	Associate	★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	LHGDN	17325668		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	23385421, 23626783, 28342862, 28617312, 28651932, 29538454		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver cirrhosis	Pubtator	24696415	Stimulate	★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	BEFREE	23626783		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	22675434, 32824620	Associate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	18756604, 19578981, 26436506, 31769164, 32045884	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	25393310	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant neoplasm of breast	Breast Cancer	BEFREE	11071387, 11920682, 14648703, 15743508, 16232121, 17611630, 18204077, 22941467, 23426649, 25393310, 25727011, 26067567, 27649506, 29684479, 31467400, 31572543, 31717460, 9931503		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	CTD_human_DG	19579870, 24014025		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of endometrium	Endometrial Cancer	BEFREE	29151917		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of gallbladder	Gallbladder cancer	BEFREE	30675228		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	BEFREE	31788043		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	25562426		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	23523916		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	15547692, 23389293, 29615456		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	31745645		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	24321518, 24535143		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of thyroid	Thyroid cancer	BEFREE	31825142		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	15547692, 15743508, 16707450, 17970035, 18204077, 18357381, 18787218, 21720707, 23856835, 26436506, 27649506, 28651932, 29504115, 29684479, 29955965, 29969176, 30098333, 30675228, 30971761, 31161679, 31417178, 31574306, 31745645, 31769164		★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	27974683		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	15965503, 17047970, 17308096, 19414319, 19881542, 21915437, 22719836, 23880304, 24479816, 28759954, 29504115, 31077946, 31769164		★☆☆☆☆ Found in Text Mining only
Mammary Carcinoma, Human	Marfan Syndrome	CTD_human_DG	19579870, 24014025		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	11071387, 11920682, 14648703, 16232121, 27649506		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	LHGDN	15743508, 16232121, 17611630		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	CTD_human_DG	19579870, 24014025		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms, Human	Mammary Neoplasms	CTD_human_DG	19579870, 24014025		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	19305641	Associate	★☆☆☆☆ Found in Text Mining only
Meningioma	Meningioma	BEFREE	15668900		★☆☆☆☆ Found in Text Mining only
Mesothelioma	Mesothelioma	Pubtator	16505274	Associate	★☆☆☆☆ Found in Text Mining only
Mesothelioma Malignant	Mesothelioma	Pubtator	16505274	Associate	★☆☆☆☆ Found in Text Mining only
Metastatic melanoma	Metastatic Melanoma	BEFREE	19305641		★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	26157141	Stimulate	★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	28978646	Associate	★☆☆☆☆ Found in Text Mining only
Mouth Neoplasms	Mouth neoplasm	Pubtator	18991282, 36581338	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Multinodular goiter	Multinodular goiter	BEFREE	28529587		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple sclerosis	Pubtator	21762372	Stimulate	★☆☆☆☆ Found in Text Mining only
Nasal Polyps	Nasal polyposis	BEFREE	22926991		★☆☆☆☆ Found in Text Mining only
Nasal Polyps	Nasal polyp	Pubtator	37224640	Associate	★☆☆☆☆ Found in Text Mining only
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	BEFREE	19739116, 28055967, 31850235		★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Carcinoma	Nasopharyngeal carcinoma	Pubtator	25778318	Associate	★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Neoplasms	Nasopharyngeal carcinoma	Pubtator	28055967	Associate	★☆☆☆☆ Found in Text Mining only
Neonatal ichthyosis-sclerosing cholangitis syndrome	Ichthyosis-Sclerosing Cholangitis Syndrome	Orphanet			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neoplasms	Neoplasms	BEFREE	11071387, 11920682, 15170668, 15561416, 15693851, 15743508, 15820559, 15965503, 17047970, 17308096, 17622569, 18204077, 18787218, 18991282, 19414319, 19440550, 19706291, 22719836, 23390516, 24294391, 24305709, 24321518, 24479816, 25345514, 25517868, 25544763, 25964581, 26436506, 27649506, 27974683, 28188749, 28192244, 28381183, 28681173, 29307823, 30024608, 31177095, 31576015, 31745645		★☆☆☆☆ Found in Text Mining only
Nephrosis	Nephrosis	BEFREE	27151920		★☆☆☆☆ Found in Text Mining only
Nephrotic Syndrome	Nephrotic Syndrome	BEFREE	27151920		★☆☆☆☆ Found in Text Mining only
Neuropathy	Neuropathy	BEFREE	15090575		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	24112161, 25001509, 27687058, 28614291, 30098333, 31825142		★☆☆☆☆ Found in Text Mining only
Noninfiltrating Intraductal Carcinoma	Ductal carcinoma	BEFREE	15743508		★☆☆☆☆ Found in Text Mining only
NORTH AMERICAN INDIAN CHILDHOOD CIRRHOSIS	Cirrhosis	BEFREE	15768832		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	30938860	Associate	★☆☆☆☆ Found in Text Mining only
Oligodontia	Oligodontia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ovarian Failure, Premature	Ovarian Failure	BEFREE	29291615		★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	23523916		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	19440550	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	15547692, 23389293, 29615456		★☆☆☆☆ Found in Text Mining only
Pancreatic Ductal Adenocarcinoma	Pancreatic adenocarcinoma	BEFREE	15693851		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasm	Pancreatic Neoplasm	LHGDN	15547692, 18949385		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	26028104, 36275722	Associate	★☆☆☆☆ Found in Text Mining only
Papillary thyroid carcinoma	Papillary thyroid carcinoma	BEFREE	27268919, 30414611		★☆☆☆☆ Found in Text Mining only
Papilloma	Papilloma	BEFREE	21832144		★☆☆☆☆ Found in Text Mining only
Papilloma	Papilloma	Pubtator	21832144	Inhibit	★☆☆☆☆ Found in Text Mining only
Parakeratosis	Parakeratosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
PARKINSON DISEASE, LATE-ONSET	Parkinson disease	BEFREE	31724477		★☆☆☆☆ Found in Text Mining only
Polycystic Kidney Autosomal Dominant	Polycystic kidney disease	Pubtator	28385574	Associate	★☆☆☆☆ Found in Text Mining only
Polycystic Kidney, Autosomal Dominant	Polycystic kidney disease	BEFREE	28385574		★☆☆☆☆ Found in Text Mining only
Portal Hypertension	Portal Hypertension	HPO_DG			★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	31745645		★☆☆☆☆ Found in Text Mining only
Prostatic Hyperplasia	Prostatic hyperplasia	Pubtator	32692865	Inhibit	★☆☆☆☆ Found in Text Mining only
Pseudopelade	Pseudopelade	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	Pubtator	19661441	Inhibit	★☆☆☆☆ Found in Text Mining only
Refractory anemias	Anemia	BEFREE	29699808		★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	24305709		★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal Diseases	BEFREE	31529081		★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	BEFREE	30024608		★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	Pubtator	30024608	Associate	★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	29699808		★☆☆☆☆ Found in Text Mining only
Sarcoidosis	Sarcoidosis	Pubtator	18955738	Associate	★☆☆☆☆ Found in Text Mining only
Sarcoma Ewing	Sarcoma	Pubtator	15920547	Associate	★☆☆☆☆ Found in Text Mining only
Sarcoma Synovial	Synovial sarcoma	Pubtator	14704716	Associate	★☆☆☆☆ Found in Text Mining only
Scarring alopecia	Alopecia	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	26674772		★☆☆☆☆ Found in Text Mining only
SCLEROSING CHOLANGITIS, NEONATAL	Sclerosing Cholangitis	BEFREE	15521008, 27319779		★☆☆☆☆ Found in Text Mining only
Secondary malignant neoplasm of colon and/or rectum	Colorectal Neoplasms	BEFREE	17308096		★☆☆☆☆ Found in Text Mining only
Skin Diseases	Skin disease	Pubtator	37734479	Inhibit	★☆☆☆☆ Found in Text Mining only
Skin Erosion	Skin Erosion	BEFREE	28861400		★☆☆☆☆ Found in Text Mining only
Skin Neoplasms	Skin neoplasm	Pubtator	24294371	Associate	★☆☆☆☆ Found in Text Mining only
Sporadic Breast Carcinoma	Breast Carcinoma	BEFREE	11071387		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	LHGDN	17418912, 17585317		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	17585317, 24070899, 27436828, 27687058, 31161679, 31498437		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	18491351, 28188749, 31498437		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	18991282, 23856835, 25078758, 26436506, 31115553, 31769164, 33649777, 37541622, 39231459	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Squamous cell carcinoma of lung	Lung carcinoma	BEFREE	31551535		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of skin	Skin carcinoma	BEFREE	30719147		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	23856835		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the hypopharynx	Hypopharyngeal Carcinoma	BEFREE	26436506		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of tongue	Tongue carcinoma	BEFREE	31769164		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	24321518, 24535143		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	18756604, 24321518, 25548484, 25755790, 31769164, 33437215	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid Cancer Papillary	Papillary thyroid cancer	Pubtator	19578981, 23159288, 25372417, 25550843, 30414611, 32045884, 36465624, 36579982	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid carcinoma	Thyroid Carcinoma	BEFREE	31825142		★☆☆☆☆ Found in Text Mining only
Thyroid Gland Follicular Adenoma	Thyroid Gland Follicular Adenoma	BEFREE	28529587		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	BEFREE	31825142		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasms	Thyroid cancer	Pubtator	17962811, 36579982, 38477086	Associate	★☆☆☆☆ Found in Text Mining only
Thyroiditis	Thyroiditis	Pubtator	25550843	Associate	★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	25393310, 28681173, 28699235		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	25393310, 30910845	Associate	★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	BEFREE	19120888, 27484096, 28922365, 29129493, 31731793		★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	36074678, 38415551	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Cervical Dysplasia	Uterine disease	Pubtator	23900598, 26463354	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	23900598, 26463354	Associate	★☆☆☆☆ Found in Text Mining only