Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	4072
Gene name	Epithelial cell adhesion molecule
Gene symbol	EPCAM
Synonyms (NCBI Gene)	Ber-Ep4BerEp4DIAR5EGP-2EGP314EGP40ESAHNPCC8KS1/4KSALYNCH8M4S1MIC18MK-1MOC-31TACSTD1TROP1
Chromosome	2
Chromosome location	2p21
Summary	This gene encodes a carcinoma-associated antigen and is a member of a family that includes at least two type I membrane proteins. This antigen is expressed on most normal epithelial cells and gastrointestinal carcinomas and functions as a homotypic calciu

Show/Hide all (14)

SNP ID	Visualize variation	Clinical significance	Consequence
rs146480420	G>A,C	Likely-benign, benign-likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, synonymous variant
rs267606785	G>A	Pathogenic	Coding sequence variant, missense variant
rs369992289	C>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs373597944	G>A,C,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Splice acceptor variant
rs376155665	A>C,G,T	Pathogenic	Intron variant
rs397514661	C>A,T	Pathogenic	Coding sequence variant, synonymous variant, stop gained
rs606231203	G>A,T	Pathogenic	Splice donor variant
rs863224453	G>A	Likely-pathogenic	Splice acceptor variant
rs878854485	C>T	Pathogenic	Coding sequence variant, stop gained
rs878854488	G>A	Pathogenic	Coding sequence variant, stop gained
rs878854496	A>G	Likely-pathogenic	Splice acceptor variant
rs1324088403	C>A,T	Pathogenic	Missense variant, coding sequence variant, stop gained
rs1553342984	->C	Pathogenic	Frameshift variant, coding sequence variant
rs1558438591	G>-	Pathogenic	Frameshift variant, coding sequence variant

123

Show/Hide all (123)

miRTarBase ID	miRNA	Experiments
MIRT966029	hsa-miR-103b	CLIP-seq
MIRT966030	hsa-miR-1248	CLIP-seq
MIRT966031	hsa-miR-1289	CLIP-seq
MIRT966032	hsa-miR-1290	CLIP-seq
MIRT966033	hsa-miR-1297	CLIP-seq
MIRT966034	hsa-miR-1299	CLIP-seq
MIRT966035	hsa-miR-1911	CLIP-seq
MIRT966036	hsa-miR-204	CLIP-seq
MIRT966037	hsa-miR-2054	CLIP-seq
MIRT966038	hsa-miR-211	CLIP-seq
MIRT966039	hsa-miR-26a	CLIP-seq
MIRT966040	hsa-miR-26b	CLIP-seq
MIRT966041	hsa-miR-297	CLIP-seq
MIRT966042	hsa-miR-3121-3p	CLIP-seq
MIRT966043	hsa-miR-3167	CLIP-seq
MIRT966044	hsa-miR-3198	CLIP-seq
MIRT966045	hsa-miR-323-3p	CLIP-seq
MIRT966046	hsa-miR-3617	CLIP-seq
MIRT966047	hsa-miR-3657	CLIP-seq
MIRT966048	hsa-miR-3662	CLIP-seq
MIRT966049	hsa-miR-3691-3p	CLIP-seq
MIRT966050	hsa-miR-3714	CLIP-seq
MIRT966051	hsa-miR-376a	CLIP-seq
MIRT966052	hsa-miR-376b	CLIP-seq
MIRT966053	hsa-miR-3924	CLIP-seq
MIRT966054	hsa-miR-3941	CLIP-seq
MIRT966055	hsa-miR-3942-3p	CLIP-seq
MIRT966056	hsa-miR-410	CLIP-seq
MIRT966057	hsa-miR-4294	CLIP-seq
MIRT966058	hsa-miR-4307	CLIP-seq
MIRT966059	hsa-miR-4309	CLIP-seq
MIRT966060	hsa-miR-4328	CLIP-seq
MIRT966061	hsa-miR-4432	CLIP-seq
MIRT966062	hsa-miR-4446-5p	CLIP-seq
MIRT966063	hsa-miR-4465	CLIP-seq
MIRT966064	hsa-miR-4534	CLIP-seq
MIRT966065	hsa-miR-4643	CLIP-seq
MIRT966066	hsa-miR-4659a-3p	CLIP-seq
MIRT966067	hsa-miR-4659b-3p	CLIP-seq
MIRT966068	hsa-miR-466	CLIP-seq
MIRT966069	hsa-miR-4669	CLIP-seq
MIRT966070	hsa-miR-4672	CLIP-seq
MIRT966071	hsa-miR-4676-5p	CLIP-seq
MIRT966072	hsa-miR-4693-5p	CLIP-seq
MIRT966073	hsa-miR-4705	CLIP-seq
MIRT966074	hsa-miR-4719	CLIP-seq
MIRT966075	hsa-miR-4755-5p	CLIP-seq
MIRT966076	hsa-miR-4775	CLIP-seq
MIRT966077	hsa-miR-4778-3p	CLIP-seq
MIRT966078	hsa-miR-4782-5p	CLIP-seq
MIRT966079	hsa-miR-4789-3p	CLIP-seq
MIRT966080	hsa-miR-495	CLIP-seq
MIRT966081	hsa-miR-498	CLIP-seq
MIRT966082	hsa-miR-513a-3p	CLIP-seq
MIRT966083	hsa-miR-516b	CLIP-seq
MIRT966084	hsa-miR-520d-5p	CLIP-seq
MIRT966085	hsa-miR-524-5p	CLIP-seq
MIRT966086	hsa-miR-548an	CLIP-seq
MIRT966087	hsa-miR-548l	CLIP-seq
MIRT966088	hsa-miR-548n	CLIP-seq
MIRT966089	hsa-miR-552	CLIP-seq
MIRT966090	hsa-miR-567	CLIP-seq
MIRT966091	hsa-miR-575	CLIP-seq
MIRT966092	hsa-miR-590-3p	CLIP-seq
MIRT966093	hsa-miR-592	CLIP-seq
MIRT966094	hsa-miR-599	CLIP-seq
MIRT966095	hsa-miR-623	CLIP-seq
MIRT966096	hsa-miR-641	CLIP-seq
MIRT966097	hsa-miR-662	CLIP-seq
MIRT966098	hsa-miR-876-5p	CLIP-seq
MIRT966081	hsa-miR-498	CLIP-seq
MIRT966033	hsa-miR-1297	CLIP-seq
MIRT1986121	hsa-miR-155	CLIP-seq
MIRT966035	hsa-miR-1911	CLIP-seq
MIRT966039	hsa-miR-26a	CLIP-seq
MIRT966040	hsa-miR-26b	CLIP-seq
MIRT966041	hsa-miR-297	CLIP-seq
MIRT966042	hsa-miR-3121-3p	CLIP-seq
MIRT1986122	hsa-miR-3190	CLIP-seq
MIRT966047	hsa-miR-3657	CLIP-seq
MIRT966053	hsa-miR-3924	CLIP-seq
MIRT966054	hsa-miR-3941	CLIP-seq
MIRT966055	hsa-miR-3942-3p	CLIP-seq
MIRT1986123	hsa-miR-4318	CLIP-seq
MIRT966061	hsa-miR-4432	CLIP-seq
MIRT966063	hsa-miR-4465	CLIP-seq
MIRT966065	hsa-miR-4643	CLIP-seq
MIRT966068	hsa-miR-466	CLIP-seq
MIRT966069	hsa-miR-4669	CLIP-seq
MIRT966070	hsa-miR-4672	CLIP-seq
MIRT966071	hsa-miR-4676-5p	CLIP-seq
MIRT966072	hsa-miR-4693-5p	CLIP-seq
MIRT966074	hsa-miR-4719	CLIP-seq
MIRT966079	hsa-miR-4789-3p	CLIP-seq
MIRT966081	hsa-miR-498	CLIP-seq
MIRT1986124	hsa-miR-509-3p	CLIP-seq
MIRT966082	hsa-miR-513a-3p	CLIP-seq
MIRT966084	hsa-miR-520d-5p	CLIP-seq
MIRT966085	hsa-miR-524-5p	CLIP-seq
MIRT966087	hsa-miR-548l	CLIP-seq
MIRT966088	hsa-miR-548n	CLIP-seq
MIRT966089	hsa-miR-552	CLIP-seq
MIRT966090	hsa-miR-567	CLIP-seq
MIRT966091	hsa-miR-575	CLIP-seq
MIRT966093	hsa-miR-592	CLIP-seq
MIRT966094	hsa-miR-599	CLIP-seq
MIRT1986125	hsa-miR-671-5p	CLIP-seq
MIRT1986126	hsa-miR-892a	CLIP-seq
MIRT966037	hsa-miR-2054	CLIP-seq
MIRT966041	hsa-miR-297	CLIP-seq
MIRT966050	hsa-miR-3714	CLIP-seq
MIRT966053	hsa-miR-3924	CLIP-seq
MIRT966061	hsa-miR-4432	CLIP-seq
MIRT966071	hsa-miR-4676-5p	CLIP-seq
MIRT966073	hsa-miR-4705	CLIP-seq
MIRT966081	hsa-miR-498	CLIP-seq
MIRT1986124	hsa-miR-509-3p	CLIP-seq
MIRT966086	hsa-miR-548an	CLIP-seq
MIRT966087	hsa-miR-548l	CLIP-seq
MIRT966088	hsa-miR-548n	CLIP-seq
MIRT966090	hsa-miR-567	CLIP-seq
MIRT966091	hsa-miR-575	CLIP-seq
MIRT966097	hsa-miR-662	CLIP-seq

Show/Hide all (5)

Transcription factor	Regulation	Reference
DNMT1	Unknown	20940408
HDAC1	Unknown	20940408
NFKB1	Repression	11505407
RELA	Repression	11505407
ZEB1	Repression	23667256

Show/Hide all (25)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001657	Process	Ureteric bud development	IEA
GO:0005515	Function	Protein binding	IPI	16054130, 32814053
GO:0005886	Component	Plasma membrane	IDA	15195135, 19785009
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS	1729376
GO:0005923	Component	Bicellular tight junction	IBA
GO:0005923	Component	Bicellular tight junction	IDA	16054130
GO:0005923	Component	Bicellular tight junction	IEA
GO:0008284	Process	Positive regulation of cell population proliferation	IDA	15195135
GO:0009986	Component	Cell surface	IEA
GO:0016020	Component	Membrane	IEA
GO:0016323	Component	Basolateral plasma membrane	IDA	18025791
GO:0016324	Component	Apical plasma membrane	IDA	18025791
GO:0016328	Component	Lateral plasma membrane	IDA	16054130
GO:0016328	Component	Lateral plasma membrane	IEA
GO:0023019	Process	Signal transduction involved in regulation of gene expression	IMP	19136966
GO:0044877	Function	Protein-containing complex binding	IDA	19136966
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	15195135, 15922867
GO:0048863	Process	Stem cell differentiation	IMP	19785009
GO:0070062	Component	Extracellular exosome	HDA	11487543, 19056867
GO:0070161	Component	Anchoring junction	IEA
GO:0098609	Process	Cell-cell adhesion	IEA
GO:0098641	Function	Cadherin binding involved in cell-cell adhesion	IBA
GO:2000048	Process	Negative regulation of cell-cell adhesion mediated by cadherin	IDA	9382878
GO:2000648	Process	Positive regulation of stem cell proliferation	IMP	19785009

MIM	HGNC	e!Ensembl
185535	11529	ENSG00000119888

P16422

Protein name

Epithelial cell adhesion molecule (Ep-CAM) (Adenocarcinoma-associated antigen) (Cell surface glycoprotein Trop-1) (Epithelial cell surface antigen) (Epithelial glycoprotein) (EGP) (Epithelial glycoprotein 314) (EGP314) (hEGP314) (KS 1/4 antigen) (KSA) (Ma

Protein function

May act as a physical homophilic interaction molecule between intestinal epithelial cells (IECs) and intraepithelial lymphocytes (IELs) at the mucosal epithelium for providing immunological barrier as a first line of defense against mucosal infe

PDB

4MZV , 6I07

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF18635	EpCAM_N	29 → 61	Epithelial cell adhesion molecule N-terminal domain	Domain
PF00086	Thyroglobulin_1	66 → 135	Thyroglobulin type-1 repeat	Domain

Tissue specificity

TISSUE SPECIFICITY: Highly and selectively expressed by undifferentiated rather than differentiated embryonic stem cells (ESC). Levels rapidly diminish as soon as ESC's differentiate (at protein levels). Expressed in almost all epithelial cell membranes b

Sequence

MAPPQVLAFGLLLAAATATFAAAQEECVCENYKLAVNCFVNNNRQCQCTSVGAQNTVICS
KLAAKCLVMKAEMNGSKLGRRAKPEGALQNNDGLYDPDCDESGLFKAKQCNGTSMCWCVN
TAGVRRTDKDTEITCSERVRTYWIIIELKHKAREKPYDSKSLRTALQKEITTRYQLDPKF
ITSILYENNVITIDLVQNSSQKTQNDVDIADVAYYFEKDVKGESLFHSKKMDLTVNGEQL
DLDPGQTLIYYVDEKAPEFSMQGLKAGVIAVIVVVVIAVVAGIVVLVISRKKRMAKYEKA
EIKEMGEMHRELNA

Sequence length

314

Interactions

View interactions

	KEGG		Reactome
	Virion - Hepatitis viruses		Cell surface interactions at the vascular wall

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)

Show/Hide Causal Diseases (12)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Carcinoma of colon	Pathogenic	rs2103756948, rs2103768437	RCV001354914 RCV001356897	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Colon adenocarcinoma	Pathogenic	rs606231203	RCV005887487	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Colonic neoplasm	Pathogenic	rs751264236	RCV001648492	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Congenital diarrhea 5 with tufting enteropathy	Likely pathogenic; Pathogenic	rs376155665, rs606231281, rs606231203, rs267606785, rs606231204, rs1553342984, rs397514661, rs1324088403, rs747738988, rs987919056	RCV000763487 RCV000144937 RCV000013609 RCV000013611 RCV000013612 View all (5 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
EPCAM-related disorder	Likely pathogenic; Pathogenic	rs376155665, rs752808238, rs606231204, rs1385489500	RCV004751287 RCV003403838 RCV004751210 RCV004731540	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Familial cancer of breast	Likely pathogenic; Pathogenic	rs376155665, rs752808238	RCV005359310 RCV004813207	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Gastric cancer	Pathogenic; Likely pathogenic	rs2465457194, rs2465443187, rs2465443330, rs2465455020, rs2465455403, rs752808238, rs2465443167, rs2103747818, rs755113500, rs147494515, rs606231203, rs397514661	RCV003164605 RCV003164635 RCV003164650 RCV003164651 RCV003164652 View all (7 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hereditary cancer-predisposing syndrome	Pathogenic	rs606231203	RCV004018623	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hereditary nonpolyposis colorectal neoplasms	Pathogenic	rs1558438591	RCV000702462	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Lynch syndrome 1	Likely pathogenic	rs2103770769	RCV002274255	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Lynch syndrome 8	Likely pathogenic; Pathogenic	rs376155665	RCV000763487	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Uterine corpus endometrial carcinoma	Pathogenic	rs606231203	RCV005887488	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (27)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Acute myeloid leukemia	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ALZHEIMER DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Astrocytoma IDH-mutant	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 1	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 8	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL NEOPLASMS, HEREDITARY NONPOLYPOSIS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL EPITHELIAL DYSPLASIA OF INTESTINE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL TUFTING ENTEROPATHY	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial pancreatic carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEREDITARY BREAST CARCINOMA	—	ClinGen	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary breast ovarian cancer syndrome	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER CIRRHOSIS, EXPERIMENTAL	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lynch syndrome	Conflicting classifications of pathogenicity; Uncertain significance; Likely benign	ClinVar ClinGen, ClinVar, Disgenet, GWAS catalog, Orphanet ClinGen, ClinVar, Disgenet, GWAS catalog, Orphanet ClinGen, ClinVar, Disgenet, GWAS catalog, Orphanet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
LYNCH SYNDROME I	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of urinary bladder	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian cancer	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN NEOPLASMS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PANCREATIC NEOPLASMS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATIC NEOPLASMS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Squamous cell carcinoma of the head and neck	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (311)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Adenocarcinoma	Adenocarcinoma	BEFREE	10467371, 16404366, 16638856, 1695123, 19157637, 20473768, 20855955, 2463074, 25266702, 25529433, 28216140, 29600370, 31423273		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	LHGDN	18688077		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of colon	Adenocarcinoma Of Colon	BEFREE	30918593		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenocarcinoma Of Esophagus	Esophageal Cancer	BEFREE	11477454, 15788668, 26687301, 28216140, 28336725, 30116994, 30974945		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	2463074, 2469722, 25347711, 25881239		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of pancreas	Pancreatic adenocarcinoma	BEFREE	21813394		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of pancreas	Pancreatic adenocarcinoma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenoid Cystic Carcinoma	Adenocarcinoma	BEFREE	30389218		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	BEFREE	22388758		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenoma of large intestine	Colorectal adenoma	BEFREE	22388758		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adult Craniopharyngioma	Craniopharyngioma	BEFREE	27431859		★★★★★ ★☆☆☆☆ Found in Text Mining only
Agenesis of corpus callosum	Agenesis Of Corpus Callosum	BEFREE	30389218		★★★★★ ★☆☆☆☆ Found in Text Mining only
Agnosia	Agnosia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Aicardi Syndrome	Aicardi syndrome	Pubtator	30389218	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ameloblastoma	Ameloblastoma	Pubtator	35975801	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Anaplasia	Anaplasia	BEFREE	15736402, 26609030		★★★★★ ★☆☆☆☆ Found in Text Mining only
Anaplastic carcinoma	Anaplastic Carcinoma	CTD_human_DG	16316942		★★★★★ ★☆☆☆☆ Found in Text Mining only
Anaplastic carcinoma	Anaplastic Carcinoma	BEFREE	24727741		★★★★★ ★☆☆☆☆ Found in Text Mining only
Anaplastic thyroid carcinoma	Anaplastic thyroid cancer	BEFREE	24727741		★★★★★ ★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	BEFREE	30082060, 30413150		★★★★★ ★☆☆☆☆ Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA	Syndromic microphthalmia	BEFREE	21281486, 25502497, 27203385, 30867841		★★★★★ ★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Aplasia Cutis Congenita	Aplasia Cutis Congenita	BEFREE	30389218		★★★★★ ★☆☆☆☆ Found in Text Mining only
Asymmetric Septal Hypertrophy	Septal Hypertrophy	BEFREE	29095436		★★★★★ ★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial Fibrillation	BEFREE	31552697		★★★★★ ★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Barrett Esophagus	Barrett esophagus	Pubtator	16473928, 18688077	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Barrett Esophagus	Barrett esophagus	LHGDN	18688077		★★★★★ ★☆☆☆☆ Found in Text Mining only
Barrett Esophagus	Barrett esophagus	BEFREE	28216140		★★★★★ ★☆☆☆☆ Found in Text Mining only
Benign neoplasm of central nervous system	Benign Neoplasm Of Nervous System	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Biliary Atresia	Biliary Atresia	BEFREE	30196281		★★★★★ ★☆☆☆☆ Found in Text Mining only
Biliary Atresia	Biliary atresia	Pubtator	30358741, 35774294	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Biliary Tract Cancer	Biliary Tract Cancer	BEFREE	21710497, 31814120		★★★★★ ★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	12050554, 28676151, 29861867		★★★★★ ★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain neoplasms	Pubtator	28820475	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast adenocarcinoma	Breast Adenocarcinoma	BEFREE	25529433, 29453194, 31268286		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Cancer, Familial	Breast Cancer	CLINGEN_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	10728619, 11205703, 11948467, 12845661, 15313925, 15543615, 15567937, 16457694, 16624485, 17785550, 19141643, 20012351, 20352488, 20379845, 20683652 View all (46 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	12031094, 12671691, 15305398, 15318937, 16457694, 16618718, 17785550, 19141643, 19633042, 19914540, 20012351, 21281469, 21370817, 21415054, 21816090 View all (37 more)	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	26356670, 28369094, 31545416	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cancer of Nasopharynx	Nasopharyngeal Cancer	BEFREE	29305578		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cancer Pain	Cancer	Pubtator	22547929	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	15736402, 19443410, 22482828, 22989882, 23378578, 25502397, 26214441, 26984381, 31627983, 31658315, 33342796, 35288910	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	25223521	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	10473805, 10728619, 11205703, 11358833, 12926061, 15195135, 15243630, 15313925, 15634917, 15736402, 15922867, 17137670, 18508581, 19002182, 19141643 View all (22 more)		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carcinoma	Carcinoma	Pubtator	12439607, 21370592, 22331423, 24727741, 24992580, 25960617, 26299616, 35398623, 37236125, 40307718	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carcinoma	Carcinoma	CTD_human_DG	16316942		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carcinoma	Carcinoma	Pubtator	8006466	Stimulate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carcinoma Adenoid Cystic	Adenoid cystic carcinoma	Pubtator	30389218	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Basal Cell	Basal cell carcinoma	Pubtator	26556851	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	19585654, 19686584, 20713493, 21464043, 21491582, 21737452, 23216644, 23879724, 24012616, 24086533, 24312415, 24616575, 24696843, 24718422, 25152593 View all (40 more)	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Merkel Cell	Merkel cell carcinoma	Pubtator	29808366	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	12050554, 28820475, 29861867		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of larynx	Laryngeal carcinoma	BEFREE	26600538		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	12000868, 15705978, 19002182, 20940408, 21535318, 22592563, 23030233, 24304228, 24787949, 24886394, 25912964, 26141860, 26634471, 26698569, 29759567		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Ovarian Epithelial	Epithelial ovarian carcinoma	Pubtator	19574774, 20674962, 25045435, 31718609	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	23947293, 27414409, 29045505, 33188144, 33836674, 34031415	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	15221993, 17683191, 23180689, 23555683, 28820475, 31723229, 32392161	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	16796747, 22482828, 8774141	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma, Basal Cell	Carcinoma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	18589210, 19574774, 21694727, 23017820, 23403823, 24489952, 25576358, 26115884, 26191160, 27265041, 28401199, 28574829, 28977905, 30191215, 30747214, 31718609 View all (1 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma, Spindle-Cell	Carcinoma	CTD_human_DG	16316942		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinomatosis of peritoneal cavity	Peritoneal Carcinomatosis	BEFREE	28088790, 29988111		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinosarcoma	Carcinoma	Pubtator	26474755	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinosarcoma	Carcinosarcoma	BEFREE	28531111		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiac diverticulum	Cardiac Diverticulum	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Dilated	Dilated cardiomyopathy	Pubtator	28701297	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	21553052		★★★★★ ★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	21370592, 22322561		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervix carcinoma	Cervix carcinoma	BEFREE	21370592, 22322561		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	Pubtator	24086533, 24909871, 29497050, 32039729, 39831920	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	BEFREE	25087473, 28938700, 31661725		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cholangitis Sclerosing	Sclerosing cholangitis	Pubtator	25046437	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Choriocarcinoma	Choriocarcinoma	BEFREE	22987628, 6204750		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic kidney disease stage 5	Kidney Disease	BEFREE	30082060		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	BEFREE	30291472, 30413150		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic rhinosinusitis with nasal polyps	Rhinosinusitis With Nasal Polyps	BEFREE	28238741		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cirrhosis	Cirrhosis	BEFREE	29637581		★★★★★ ★☆☆☆☆ Found in Text Mining only
Clear-cell metastatic renal cell carcinoma	Renal Carcinoma	BEFREE	20679884		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colitis Ulcerative	Ulcerative colitis	Pubtator	28797042	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	10467371, 10770638, 15756257, 16404366, 16971804, 17617629, 22033101, 22989882, 25330373, 25963852, 26613680, 26690044, 27917441, 29956726, 31322180, 31354723 View all (1 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	12100028, 14500642, 15756257, 23230278, 40597801	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic Neoplasms	BEFREE	22033101		★★★★★ ★☆☆☆☆ Found in Text Mining only
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 8	Nonpolyposis Colorectal Cancer	CLINGEN_DG	16951683, 19098912, 19177550, 20064925, 23530899, 24309898		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 8	Nonpolyposis Colorectal Cancer	GENOMICS_ENGLAND_DG	18572020		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 8	Nonpolyposis Colorectal Cancer	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 8	Nonpolyposis Colorectal Cancer	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal Carcinoma	Colorectal Cancer	BEFREE	10881691, 11279610, 11960289, 12855617, 17361206, 17548814, 19141643, 20606680, 21145788, 21769135, 23026194, 23264089, 24362576, 25110875, 25213678 View all (23 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	10205210, 11167991, 11315510, 12202902, 15570423, 15756257, 15816554, 16034560, 16404366, 17361206, 17579117, 17912244, 20135722, 20606680, 21145788 View all (28 more)	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	LHGDN	15328177		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	BEFREE	23801599		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms Hereditary Nonpolyposis	Lynch syndrome	Pubtator	20864635, 21145788, 21227399, 21769135, 21791569, 24084575, 25133505, 25204323, 25963852, 26528695, 27363726, 27443514, 28489507, 28668538, 30238922 View all (18 more)	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms Hereditary Nonpolyposis	Lynch syndrome	Pubtator	22388758	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital atresia of extrahepatic bile duct	Extrahepatic Biliary Atresia	BEFREE	30196281		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital contractural arachnodactyly	Congenital Contractural Arachnodactyly	BEFREE	31661725		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital tufting enteropathy	Congenital Tufting Enteropathy	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	20679884, 29152114		★★★★★ ★☆☆☆☆ Found in Text Mining only
Craniopharyngioma	Craniopharyngioma	BEFREE	27431859		★★★★★ ★☆☆☆☆ Found in Text Mining only
Craniopharyngioma	Craniopharyngioma	Pubtator	27431859	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn disease	Pubtator	33201212	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cyst	Cyst	BEFREE	21423607		★★★★★ ★☆☆☆☆ Found in Text Mining only
Depressive Disorder	Major depressive disorder	Pubtator	40508038	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental regression	Developmental regression	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Diarrhea	Diarrhea	Pubtator	28701297, 32293360, 34503561	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diarrhea 5 With Tufting Enteropathy Congenital	Congenital diarrhea	Pubtator	18572020, 28361844, 28701297, 30461124, 32293360, 33433512	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysentery	Dysentery	Pubtator	30461124	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysgraphia	Dysgraphia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dyskinetic syndrome	Dyskinetic Syndrome	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	21145788, 23264089, 24077349, 25261936, 29208367, 31035965		★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	21145788, 24077349, 24084575, 24465008, 25963852, 27569206	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	BEFREE	28333208		★★★★★ ★☆☆☆☆ Found in Text Mining only
Enterocolitis Necrotizing	Enterocolitis	Pubtator	36371157	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Epidermodysplasia Verruciformis	Epidermodysplasia verruciformis	Pubtator	24006432	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Epithelial ovarian cancer	Ovarian cancer	BEFREE	19574774, 23017820, 25576358, 28401199, 28574829, 28977905, 30747214, 31718609		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epithelioma	Epithelioma	BEFREE	25960617, 26996277, 29192390, 29295696, 30015855		★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal carcinoma	Esophageal Carcinoma	BEFREE	11477454, 17143526, 24141784, 26687301, 30116994		★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophagus Neoplasm	BEFREE	11477454, 17143526, 24141784, 26687301, 30116994		★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophagus Neoplasm	LHGDN	17143526		★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophageal neoplasm	Pubtator	26687301, 32255255	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	16796747, 26897248	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	26687301	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Eye Neoplasms	Eye neoplasms	Pubtator	24391761	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Familial multiple trichoepitheliomata	Multiple Trichoepithelioma	BEFREE	30116994		★★★★★ ★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty liver	Pubtator	27447573	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Fatty Liver Disease	Fatty Liver	BEFREE	29126873		★★★★★ ★☆☆☆☆ Found in Text Mining only
Fibrosis, Liver	Liver Fibrosis	BEFREE	31378124		★★★★★ ★☆☆☆☆ Found in Text Mining only
Gallbladder Carcinoma	Gallbladder cancer	BEFREE	26318430		★★★★★ ★☆☆☆☆ Found in Text Mining only
Gallbladder Neoplasms	Gallbladder neoplasm	Pubtator	26318430	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Gastrointestinal carcinoma	Gastrointestinal carcinoma	BEFREE	11080501		★★★★★ ★☆☆☆☆ Found in Text Mining only
Gastrointestinal Neoplasms	Gastrointestinal neoplasm	Pubtator	16034560	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Germ cell tumor	Tumor	BEFREE	22987628		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	35955533	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	33269813	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glycosuria Renal	Renal glycosuria	Pubtator	18383834	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hallucinations	Hallucinations	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hamartoma Syndrome, Multiple	Hamartoma	BEFREE	28980743		★★★★★ ★☆☆☆☆ Found in Text Mining only
Head and Neck Carcinoma	Head And Neck Carcinoma	BEFREE	30275505		★★★★★ ★☆☆☆☆ Found in Text Mining only
Head and Neck Neoplasms	Head and neck neoplasm	Pubtator	16475692, 21355082, 22974215, 30275505	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hematological Disease	Hematological Disease	BEFREE	31141729		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hemiplegia/hemiparesis	Hemiplegia/hemiparesis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hepatitis B	Hepatitis b	Pubtator	23519058, 24696843	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hepatoblastoma	Hepatoblastoma	BEFREE	19793197, 28851352, 31627983		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hepatoblastoma	Hepatoblastoma	Pubtator	28851352, 31627983	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hereditary Breast and Ovarian Cancer Syndrome	Hereditary breast and ovarian cancer syndrome	Pubtator	21129172	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hereditary non-polyposis colorectal cancer syndrome	Hereditary nonpolyposis colorectal cancer	ORPHANET_DG	21769135, 23938213		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hereditary Nonpolyposis Colorectal Cancer	Colorectal Cancer	BEFREE	19098912, 19177550, 19455606, 20864635, 21115857, 21145788, 21227399, 21769135, 21791569, 22388758, 22552011, 23026194, 23264089, 23530899, 23801599 View all (19 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hereditary Nonpolyposis Colorectal Cancer	Colorectal Cancer	ORPHANET_DG	21769135, 23938213		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hereditary Nonpolyposis Colorectal Cancer	Colorectal Cancer	CTD_human_DG	25701956		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hereditary Nonpolyposis Colorectal Cancer	Colorectal Cancer	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hereditary nonpolyposis colorectal carcinoma	Hereditary nonpolyposis colorectal cancer	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hereditary Nonpolyposis Colorectal Neoplasms	Colorectal Neoplasms	LHGDN	19098912		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hereditary Nonpolyposis Colorectal Neoplasms	Colorectal Neoplasms	CLINVAR_DG	23462293, 24142340, 28701297		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hereditary Nonpolyposis Colorectal Neoplasms	Colorectal Neoplasms	CTD_human_DG	25701956		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hereditary pancreatitis	Hereditary Pancreatitis	BEFREE	28276299		★★★★★ ★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	BEFREE	17548814, 23530114		★★★★★ ★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory bowel disease	Pubtator	33201212, 38415550	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
insulinoma	Insulinoma	BEFREE	20097833		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intestinal Diseases	Intestinal Diseases	BEFREE	24142340, 28084299		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intestinal epithelial dysplasia	Intestinal Epithelial Dysplasia	BEFREE	18572020, 21315192, 23462293, 24048167, 24142340, 27875355, 28361844, 30015855, 30628064, 31433211		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intestinal Polyposis	Intestinal polyposis	Pubtator	25204323	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Intestinal Polyposis	Intestinal Polyposis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Intraepithelial Neoplasia	Intraepithelial Neoplasia	BEFREE	28084299		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intrahepatic Cholangiocarcinoma	Intrahepatic Cholangiocarcinoma	BEFREE	24909871, 29545603		★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Diseases Cystic	Kidney disease	Pubtator	27431859	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Failure, Chronic	Kidney Failure	BEFREE	30082060		★★★★★ ★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	27697766		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	27697766		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	LHGDN	18316609		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	19150350, 19793197, 20707805, 21233610, 21462191, 21932402, 22993038, 23685049, 23720769, 24312415, 24550086, 24566861, 24572141, 24718422, 25087473 View all (58 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver cirrhosis	Pubtator	28572700	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver Cirrhosis	BEFREE	29637581		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver Diseases	Liver disease	Pubtator	28361844	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver Failure	Liver failure	BEFREE	28035548		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver Neoplasms	Liver neoplasm	Pubtator	19585654, 27447573	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	BEFREE	25772244, 30636011		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	BEFREE	1695123, 26141860		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	LHGDN	19002182		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	21370817, 21829190, 23959111, 24304228, 24886394, 26698569, 27901069, 29186152, 34964211, 35542175, 35711455, 40597801	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	18383834, 23830302, 26698569, 28336725, 32212818	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	24422715, 28820475, 31443698, 32048177, 40307718	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic Metastasis	BEFREE	31443698		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphoma, Non-Hodgkin	Non-Hodgkin lymphoma	BEFREE	11205703		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lynch Syndrome	Lynch Syndrome	BEFREE	19098912, 19177550, 19455606, 20864635, 21115857, 21145788, 21227399, 21769135, 21791569, 22388758, 22552011, 23026194, 23264089, 23530899, 23801599 View all (18 more)		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Lynch syndrome	Lynch Syndrome	Orphanet			★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Lynch Syndrome	Lynch Syndrome	CTD_human_DG	25701956		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Lynch Syndrome	Lynch Syndrome	GENOMICS_ENGLAND_DG			★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Lynch syndrome I (site-specific colonic cancer)	Colorectal Cancer	CTD_human_DG	19098912		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malabsorption Syndrome	Malabsorption Syndrome	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	10728619, 11205703, 11948467, 12438268, 12845661, 15313925, 15543615, 15567937, 16457694, 16624485, 17785550, 19141643, 20012351, 20352488, 20379845 View all (48 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of endometrium	Endometrial Cancer	BEFREE	21145788, 23264089, 24077349, 25261936, 31035965		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of esophagus	Esophagus Neoplasm	BEFREE	11477454, 17143526, 24141784, 26687301, 30116994		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of gallbladder	Gallbladder cancer	BEFREE	26318430		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of kidney	Kidney Cancer	BEFREE	27872478, 31767348		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of larynx	Larynx cancer	BEFREE	26600538		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	BEFREE	17548247, 23936298, 26095183, 28176469, 28522194, 29497050, 29970536, 30551483, 31195060, 31348641, 31492561, 31696964, 31740785		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	12000868, 15705978, 16404366, 20940408, 21535318, 22592563, 23030233, 24304228, 24787949, 24886394, 25912964, 26141860, 26634471, 26698569, 29759567		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of nasopharynx	Nasopharyngeal carcinoma	BEFREE	29305578		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	17900673, 18589210, 19574774, 21694727, 23403823, 24489952, 26115884, 26191160, 28574829, 30191215		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	CTD_human_DG	20870202		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	CTD_human_DG	17446842		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	23679813, 24719318, 24734907, 29843873, 30393102		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	15084762, 16404366, 17516570, 23619897, 23969936, 24076216, 24705864, 24992580, 25636521, 27527157, 28498319, 28560675, 30419852, 31165705, 31324239, 31514447 View all (1 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	CTD_human_DG	17013881		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	12396621, 22955854, 24008668, 24422715, 27557490, 28123556, 28403178, 29862663		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of thyroid	Thyroid cancer	BEFREE	24727741		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of tongue	Malignant Neoplasm Of Tongue	BEFREE	17207659		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	12050554, 29861867		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	10467371, 10728619, 11205703, 11223068, 12379327, 12855617, 16203775, 16404366, 17137670, 17172421, 17213811, 17559145, 18508581, 19136966, 20379845 View all (102 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	21370592, 22322561		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	10467371, 10770638, 16404366, 22033101, 22989882, 25963852, 26613680, 26690044, 27917441, 29956726, 31322180, 31354723		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	LHGDN	12592372, 19141643		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	28870198, 29462126, 30567518		★★★★★ ★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	15696177, 19410661, 24811334		★★★★★ ★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	28883519	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Mesothelioma	Mesothelioma	BEFREE	30354850		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mesothelioma Malignant	Mesothelioma	Pubtator	22086445, 37069606	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Metastatic Prostate Carcinoma	Metastatic Prostate Carcinoma	BEFREE	24992580		★★★★★ ★☆☆☆☆ Found in Text Mining only
Migraine Disorders	Migraine	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Mucinous Adenocarcinoma	Mucinous Adenocarcinoma	BEFREE	23648460		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mucoepidermoid Carcinoma	Mucoepidermoid Carcinoma	BEFREE	28347886		★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	11205703		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia, Chronic	Myeloid Leukemia	BEFREE	11205703		★★★★★ ★☆☆☆☆ Found in Text Mining only
MYELOPROLIFERATIVE DISORDER, CHRONIC, WITH EOSINOPHILIA	Myeloproliferative Disorder with Eosinophilia	BEFREE	30642547		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	BEFREE	28959019, 29305578, 31822892		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Carcinoma	Nasopharyngeal carcinoma	Pubtator	35169126	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Neoplasms	Nasopharyngeal carcinoma	Pubtator	31822892	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Necrosis	Necrosis	Pubtator	28668853	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasm of skeletal system	Neoplasm of skeletal system	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	10327052, 10467371, 10472336, 10473805, 10728619, 10811480, 10881691, 11358833, 11948467, 11960289, 12050554, 14728946, 15084762, 15634917, 15922867 View all (143 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	30104180		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	30104180	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurofibromatosis, Type 3, mixed central and peripheral	Neurofibromatosis	BEFREE	26430762		★★★★★ ★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	16638856, 24304228, 24488011, 25912964, 26531053, 26634471, 27013395, 27302574, 27766570, 28432274, 29192390, 29286485, 29352248, 29845263, 30308977 View all (4 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Noninfiltrating Intraductal Carcinoma	Ductal carcinoma	BEFREE	23208501		★★★★★ ★☆☆☆☆ Found in Text Mining only
Oestrogen receptor positive breast cancer	Oestrogen Receptor Positive Breast Cancer	BEFREE	21188630		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Carcinoma	Ovarian Carcinoma	BEFREE	19574774		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Diseases	Ovarian diseases	Pubtator	19574774, 20870202, 26191160, 26474755, 37094499	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	LHGDN	15240533		★★★★★ ★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	18589210, 21694727, 23403823, 24489952, 26115884, 26191160, 28574829, 30191215		★★★★★ ★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	CTD_human_DG	20870202		★★★★★ ★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	19574774, 20674962, 20870202, 20952655, 21694727, 23011824, 23403823, 24465008, 24528603, 24752081, 25045435, 25251053, 26191160, 27323861, 31752757 View all (5 more)	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	24489952	Stimulate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	2333300, 23679813, 24719318, 24734907, 29843873, 30393102		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic Ductal Adenocarcinoma	Pancreatic adenocarcinoma	BEFREE	21281486, 27203385		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasm	Pancreatic Neoplasm	CTD_human_DG	17446842		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasm	Pancreatic Neoplasm	BEFREE	19276185		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	20426768, 23594482, 23679813, 24521357, 25240521, 31317745, 31911225	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pancreatitis	Pancreatitis	BEFREE	29099648		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatitis	Pancreatitis	Pubtator	33836674	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Papillary thyroid carcinoma	Papillary thyroid carcinoma	BEFREE	23049733, 31658315		★★★★★ ★☆☆☆☆ Found in Text Mining only
Paroxysmal nonkinesigenic dyskinesia	Paroxysmal nonkinesigenic dyskinesia	Pubtator	28875602	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pituitary Adenoma	Pituitary adenoma	BEFREE	31264409		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pituitary Adenoma	Pituitary adenoma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Pituitary Neoplasms	Pituitary neoplasm	Pubtator	25550831	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pleural effusion disorder	Pleural effusion	BEFREE	30903651		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostate cancer familial	Prostate cancer	Pubtator	29095436	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	15084762, 17516570, 23619897, 23969936, 24076216, 24705864, 24992580, 25636521, 27527157, 28498319, 28560675, 30419852, 31165705, 31324239, 31514447		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	16404366, 19850885, 20598135, 24705864, 24727373, 24992580, 31514447, 31738404, 35315504, 37055551	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Neoplasms	Prostatic Neoplasms	CTD_human_DG	17013881		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pulmonary Emphysema	Pulmonary Emphysema	BEFREE	24092566, 29892598		★★★★★ ★☆☆☆☆ Found in Text Mining only
Rectal Carcinoma	Rectal Carcinoma	BEFREE	17361206, 29615840		★★★★★ ★☆☆☆☆ Found in Text Mining only
Rectal Neoplasms	Rectal Neoplasms	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal carcinoma	Renal Carcinoma	BEFREE	27872478, 31767348		★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	LHGDN	15102668		★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	20679884		★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis pigmentosa	Pubtator	18383834	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	LHGDN	15557427		★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	BEFREE	20461151, 22065926, 22328825, 22969266, 23213278, 23687439, 24391761, 25502397, 28482574		★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	Pubtator	20461151, 22328825, 22969266, 23213278, 23687439, 24391761, 25502397	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Secondary malignant neoplasm of colon and/or rectum	Colorectal Neoplasms	BEFREE	15816554		★★★★★ ★☆☆☆☆ Found in Text Mining only
Severe Combined Immunodeficiency	Severe combined immunodeficiency disease	LHGDN	19136966		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sjogren's Syndrome	Sjogren syndrome	Pubtator	31886299	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Small cell carcinoma of lung	Lung carcinoma	BEFREE	27373157, 29473730		★★★★★ ★☆☆☆☆ Found in Text Mining only
Small Cell Lung Carcinoma	Small cell lung carcinoma	Pubtator	36517551, 36869231, 37303738	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	12926061, 15922867, 18485790, 21785818, 29202724, 31806375		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	15788668, 24566863, 26687301, 28560678, 28819854		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	22447185, 23625795, 25043563, 31361893, 31822892, 32300118, 32814771, 33340247, 33433512, 37236125	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of lung	Lung carcinoma	BEFREE	26571236		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	10472336, 22447185, 23625795, 25043563, 26124342, 30275505, 31361893		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Stomach Carcinoma	Stomach Carcinoma	BEFREE	12396621, 22955854, 24008668, 24422715, 27557490, 28123556, 28403178, 29862663		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach Neoplasms	BEFREE	12396621		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	15870832, 23830302, 24008668, 24422715, 26774363, 27557490, 32816956	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Teratoma	Teratoma	BEFREE	19785009		★★★★★ ★☆☆☆☆ Found in Text Mining only
Testicular Diseases	Testicular Diseases	BEFREE	29738007		★★★★★ ★☆☆☆☆ Found in Text Mining only
Thrombosis	Thrombosis	Pubtator	24718422	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid Cancer Papillary	Papillary thyroid cancer	Pubtator	26678979, 31658315, 35288910, 40307718	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid carcinoma	Thyroid Carcinoma	BEFREE	23049733, 24727741		★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid Carcinoma Anaplastic	Thyroid cancer	Pubtator	24727741	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid Diseases	Thyroid Diseases	BEFREE	23049733		★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	BEFREE	24727741		★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasms	Thyroid cancer	Pubtator	20579375, 23049733	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Trichohepatoenteric Syndrome	Trichohepatoenteric Syndrome	BEFREE	29575718		★★★★★ ★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	26264278, 26806809, 28870198, 29970561, 31481116		★★★★★ ★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	28870198, 33342796, 39520925	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Turcot syndrome (disorder)	Turcot syndrome	BEFREE	23801599		★★★★★ ★☆☆☆☆ Found in Text Mining only
Undifferentiated carcinoma	Carcinoma	CTD_human_DG	16316942		★★★★★ ★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	25223521, 25719831, 28321147	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Urologic Neoplasms	Urologic neoplasm	Pubtator	31615790	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Urologic Neoplasms	Urologic Neoplasms	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Uterine Cervical Dysplasia	Uterine disease	Pubtator	8774141	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	36674577	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Uveitis	Uveitis	BEFREE	31726034		★★★★★ ★☆☆☆☆ Found in Text Mining only
Vitamin D Deficiency	Vitamin D Deficiency	BEFREE	28027916		★★★★★ ★☆☆☆☆ Found in Text Mining only

EPCAM (epithelial cell adhesion molecule)