FHIT (fragile histidine triad diadenosine triphosphatase)

Gene

• Entrez ID: 2272
• Gene name: Fragile histidine triad diadenosine triphosphatase
• Gene symbol: FHIT
• Synonyms (NCBI Gene): AP3Aase, FRA3B
• Chromosome: 3
• Chromosome location: 3p14.2
• Summary: The protein encoded by this gene is a P1-P3-bis(5`-adenosyl) triphosphate hydrolase involved in purine metabolism. This gene encompasses the common fragile site FRA3B on chromosome 3, where carcinogen-induced damage can lead to translocations and aberrant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT006362	hsa-miR-143-3p	Luciferase reporter assay	21711110
MIRT006362	hsa-miR-143-3p	Luciferase reporter assay	21711110
MIRT006363	hsa-miR-217	Luciferase reporter assay	21711110
MIRT006364	hsa-miR-331-3p	Luciferase reporter assay	21711110
MIRT006365	hsa-miR-625-5p	Luciferase reporter assay	21711110
MIRT006362	hsa-miR-143-3p	Luciferase reporter assay	21711110
MIRT006362	hsa-miR-143-3p	Luciferase reporter assay	21711110
MIRT006365	hsa-miR-625-5p	Luciferase reporter assay	21711110
MIRT006362	hsa-miR-143-3p	Luciferase reporter assay	21711110
MIRT006362	hsa-miR-143-3p	Luciferase reporter assay	21711110
MIRT006365	hsa-miR-625-5p	Luciferase reporter assay	21711110
MIRT996523	hsa-miR-103a	CLIP-seq
MIRT996524	hsa-miR-107	CLIP-seq
MIRT996525	hsa-miR-1252	CLIP-seq
MIRT996526	hsa-miR-1301	CLIP-seq
MIRT996527	hsa-miR-3919	CLIP-seq
MIRT996528	hsa-miR-5047	CLIP-seq
MIRT996529	hsa-miR-922	CLIP-seq
MIRT996530	hsa-miR-1287	CLIP-seq
MIRT996531	hsa-miR-3135b	CLIP-seq
MIRT996532	hsa-miR-4766-5p	CLIP-seq
MIRT1995487	hsa-miR-1273f	CLIP-seq
MIRT1995488	hsa-miR-143	CLIP-seq
MIRT1995489	hsa-miR-3185	CLIP-seq
MIRT1995490	hsa-miR-4708-5p	CLIP-seq
MIRT1995491	hsa-miR-4710	CLIP-seq
MIRT1995492	hsa-miR-4738-3p	CLIP-seq
MIRT1995493	hsa-miR-4770	CLIP-seq
MIRT1995494	hsa-miR-4792	CLIP-seq
MIRT1995487	hsa-miR-1273f	CLIP-seq
MIRT1995488	hsa-miR-143	CLIP-seq
MIRT1995489	hsa-miR-3185	CLIP-seq
MIRT1995490	hsa-miR-4708-5p	CLIP-seq
MIRT1995491	hsa-miR-4710	CLIP-seq
MIRT1995492	hsa-miR-4738-3p	CLIP-seq
MIRT1995493	hsa-miR-4770	CLIP-seq
MIRT1995494	hsa-miR-4792	CLIP-seq
MIRT1995487	hsa-miR-1273f	CLIP-seq
MIRT1995488	hsa-miR-143	CLIP-seq
MIRT1995489	hsa-miR-3185	CLIP-seq
MIRT1995490	hsa-miR-4708-5p	CLIP-seq
MIRT1995491	hsa-miR-4710	CLIP-seq
MIRT1995492	hsa-miR-4738-3p	CLIP-seq
MIRT1995493	hsa-miR-4770	CLIP-seq
MIRT1995494	hsa-miR-4792	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
E2F1	Repression	15044096

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0001650	Component	Fibrillar center	IDA
GO:0003824	Function	Catalytic activity	IEA
GO:0005515	Function	Protein binding	IPI	18077326, 32296183
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IDA	15007172
GO:0005737	Component	Cytoplasm	IEA
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IEA
GO:0005829	Component	Cytosol	IDA	15313915
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA
GO:0006163	Process	Purine nucleotide metabolic process	IBA
GO:0006163	Process	Purine nucleotide metabolic process	IDA	9323207
GO:0006915	Process	Apoptotic process	IEA
GO:0015964	Process	Diadenosine triphosphate catabolic process	IBA
GO:0015964	Process	Diadenosine triphosphate catabolic process	IDA	8794732
GO:0016740	Function	Transferase activity	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0031625	Function	Ubiquitin protein ligase binding	IBA
GO:0031625	Function	Ubiquitin protein ligase binding	IPI	15313915
GO:0032435	Process	Negative regulation of proteasomal ubiquitin-dependent protein catabolic process	IBA
GO:0032435	Process	Negative regulation of proteasomal ubiquitin-dependent protein catabolic process	IMP	15313915
GO:0042802	Function	Identical protein binding	IPI	9261067, 9576908, 16189514, 18077326, 24722188, 25416956, 27107012, 31515488, 32296183
GO:0043530	Function	Adenosine 5'-monophosphoramidase activity	IDA	18694747
GO:0043530	Function	Adenosine 5'-monophosphoramidase activity	IEA
GO:0047352	Function	Adenylylsulfate-ammonia adenylyltransferase activity	IDA	26181368
GO:0047352	Function	Adenylylsulfate-ammonia adenylyltransferase activity	IEA
GO:0047627	Function	Adenylylsulfatase activity	IDA	18694747
GO:0047627	Function	Adenylylsulfatase activity	IEA
GO:0047710	Function	Bis(5'-adenosyl)-triphosphatase activity	IBA
GO:0047710	Function	Bis(5'-adenosyl)-triphosphatase activity	IDA	8794732, 9323207, 9543008
GO:0047710	Function	Bis(5'-adenosyl)-triphosphatase activity	IEA
GO:0072332	Process	Intrinsic apoptotic signaling pathway by p53 class mediator	IBA
GO:0072332	Process	Intrinsic apoptotic signaling pathway by p53 class mediator	IMP	15313915

Other IDs

• MIM: 601153
• HGNC: 3701
• e!Ensembl: ENSG00000189283

Protein

• UniProt ID: P49789
• Protein name: Bis(5'-adenosyl)-triphosphatase (EC 3.6.1.29) (AP3A hydrolase) (AP3Aase) (Adenosine 5'-monophosphoramidase FHIT) (EC 3.9.1.-) (Adenylylsulfatase) (EC 3.6.2.1) (Adenylylsulfate-ammonia adenylyltransferase) (EC 2.7.7.51) (Diadenosine 5',5'''-P1,P3-triphosph
• Protein function: Possesses dinucleoside triphosphate hydrolase activity (PubMed:12574506, PubMed:15182206, PubMed:8794732, PubMed:9323207, PubMed:9543008, PubMed:9576908). Cleaves P(1)-P(3)-bis(5'-adenosyl) triphosphate (Ap3A) to yield AMP and ADP (PubMed:125745
• PDB: 1FHI, 1FIT, 2FHI, 2FIT, 3FIT, 4FIT, 5FIT, 6FIT, 7P8P
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01230	HIT	9 → 105	HIT domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Low levels expressed in all tissues tested. Phospho-FHIT observed in liver and kidney, but not in brain and lung. Phospho-FHIT undetected in all tested human tumor cell lines.
• Sequence:

  MSFRFGQHLIKPSVVFLKTELSFALVNRKPVVPGHVLVCPLRPVERFHDLRPDEVADLFQ
  TTQRVGTVVEKHFHGTSLTFSMQDGPEAGQTVKHVHVHVLPRKAGDFHRNDSIYEELQKH
  DKEDFPASWRSEEEMAAEAAALRVYFQ

• Sequence length: 147

Pathways

KEGG:

Purine metabolism
Metabolic pathways
Small cell lung cancer
Non-small cell lung cancer

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
AMPHETAMINE OR RELATED ACTING SYMPATHOMIMETIC ABUSE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AMPHETAMINE-RELATED DISORDERS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANOREXIA NERVOSA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ASPERGER SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ASTROCYTOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIOVENTRICULAR BLOCK	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BRAIN ANEURYSM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BRONCHOPULMONARY DYSPLASIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, NON-SMALL-CELL LUNG	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEMENTIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DYSLEXIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EOSINOPHILIC ESOPHAGITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FHIT-related disorder	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPOPITUITARISM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSOMNIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KIDNEY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lip and oral cavity carcinoma	association	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MESOTHELIOMA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEUROBLASTOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEUROTIC DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-ALCOHOLIC FATTY LIVER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBSESSIVE-COMPULSIVE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OROFACIAL CLEFT	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POST-OPERATIVE MYOCARDIAL INFARCTION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATIC NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RHEUMATIC DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STOMACH NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STROKE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UPPER AERODIGESTIVE TRACT NEOPLASM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UROLOGIC NEOPLASMS	—	CTD	★★☆☆☆ 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
Acute Coronary Syndrome	Coronary Syndrome	GWASCAT_DG	28753643		★☆☆☆☆ Found in Text Mining only
Acute leukemia	Leukemia	BEFREE	10499611, 14638866, 9744498, 9823330		★☆☆☆☆ Found in Text Mining only
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	10499611, 11532518, 15026336, 16357833, 16740775, 26745060, 9823330		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	10555761, 10652418, 10679912, 10812172, 10912665, 11396980, 11461085, 11642547, 12557261, 15150628, 15231689, 17382535, 24370550, 30956756, 31001805, 8813121, 9349498		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	LHGDN	17348444		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of colon	Adenocarcinoma Of Colon	BEFREE	24370550		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma Of Esophagus	Esophageal Cancer	BEFREE	11170287, 9349498		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of large intestine	Colorectal Cancer	BEFREE	12090476, 12355215		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	9662254		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of pancreas	Pancreatic adenocarcinoma	BEFREE	9820739		★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	BEFREE	11461085, 20083853, 25091577		★☆☆☆☆ Found in Text Mining only
Adenoma of large intestine	Colorectal adenoma	BEFREE	17382535		★☆☆☆☆ Found in Text Mining only
Adenomatous Polyposis Coli	Multiple polyposis syndrome	BEFREE	15014022		★☆☆☆☆ Found in Text Mining only
Adult Acute Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	11532518, 15026336, 16357833, 9823330		★☆☆☆☆ Found in Text Mining only
Adult Diffuse Large B-Cell Lymphoma	B-cell Lymphoma	BEFREE	14719066, 15480422, 16715073, 17712558		★☆☆☆☆ Found in Text Mining only
Adult Hodgkin Lymphoma	Hodgkin Lymphoma	BEFREE	17008276		★☆☆☆☆ Found in Text Mining only
Anal carcinoma	Anal Cancer	BEFREE	17393360		★☆☆☆☆ Found in Text Mining only
Anaplastic carcinoma	Anaplastic Carcinoma	BEFREE	10448301		★☆☆☆☆ Found in Text Mining only
Anaplastic carcinoma	Anaplastic Carcinoma	CTD_human_DG	16061637		★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	BEFREE	16313263		★☆☆☆☆ Found in Text Mining only
Aneuploidy	Aneuploidy	Pubtator	23019410, 30737237	Associate	★☆☆☆☆ Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA	Syndromic microphthalmia	BEFREE	26676757		★☆☆☆☆ Found in Text Mining only
Anophthalmia with pulmonary hypoplasia	Anophthalmia	Pubtator	28289900	Associate	★☆☆☆☆ Found in Text Mining only
Anus Neoplasms	Anus Neoplasms	LHGDN	17393360		★☆☆☆☆ Found in Text Mining only
Anus Neoplasms	Anus neoplasm	Pubtator	17393360	Associate	★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety disorder	Pubtator	22628180, 29249830	Associate	★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	Pubtator	37466093	Associate	★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	BEFREE	29176790		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atypical Ductal Breast Hyperplasia	Breast Hyperplasia	BEFREE	19080258		★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	Pubtator	23375656, 24204716	Associate	★☆☆☆☆ Found in Text Mining only
Autosomal dominant compelling helio ophthalmic outburst syndrome	Achoo syndrome	GWASCAT_DG	27182965		★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	LHGDN	14719066, 17712558		★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	24394348		★☆☆☆☆ Found in Text Mining only
Barrett Esophagus	Barrett esophagus	BEFREE	20647332, 31001805, 9349498		★☆☆☆☆ Found in Text Mining only
Barrett Esophagus	Barrett esophagus	Pubtator	20647332, 31001805	Associate	★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	11412230, 15569992, 29752880		★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	LHGDN	15569992, 15674328		★☆☆☆☆ Found in Text Mining only
Blast Phase	Blast phase chronic myelogenous leukemia	BEFREE	9744498		★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain Neoplasms	BEFREE	10023002, 18338497, 9205070		★☆☆☆☆ Found in Text Mining only
Brain Tumor, Primary	Brain Neoplasms	BEFREE	9205070		★☆☆☆☆ Found in Text Mining only
Breast Cancer, Familial	Breast Cancer	BEFREE	8895736		★☆☆☆☆ Found in Text Mining only
Breast cancer, lobular	Breast Cancer	BEFREE	10930803		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	10363992, 10463571, 10717620, 11325823, 11425271, 11562178, 12118213, 12231533, 12362975, 12529969, 12649173, 14566838, 14999140, 15674328, 16030101, 17374991, 18338496, 18593338, 19080258, 20417865, 21095196, 21557333, 23969757, 25735361, 26491255, 27236032, 30941950, 8764101, 8895736, 9288768, 9559339		★☆☆☆☆ Found in Text Mining only
Breast Diseases	Breast disease	Pubtator	17164758	Associate	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	10666370, 15047740, 15073846, 20417865, 25735361, 30941950	Associate	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	19130459	Inhibit	★☆☆☆☆ Found in Text Mining only
Bronchioloalveolar Adenocarcinoma	Lung adenocarcinoma	BEFREE	9614374		★☆☆☆☆ Found in Text Mining only
Burkitt Lymphoma	Burkitt`s Lymphoma	BEFREE	10331745, 15384174		★☆☆☆☆ Found in Text Mining only
Burkitt Lymphoma	Burkitt lymphoma	Pubtator	19759907	Associate	★☆☆☆☆ Found in Text Mining only
Cancer of Urinary Tract	Urinary Tract Cancer	CTD_human_DG	23618899		★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	10027335, 10411902, 10555761, 10732756, 11746990, 12669232, 12698186, 12800227, 14675322, 15256063, 15627891, 15929169, 16187332, 16237777, 18517280, 18592004, 19414370, 19760177, 20606729, 22393963, 22496620, 25040980, 28289900, 38069335, 8620533, 9261067, 9401074, 9403704	Associate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	14760383, 16821595	Inhibit	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	10027335, 10063967, 10331745, 10440747, 10585575, 10679912, 10717620, 10812172, 10999736, 11004671, 11169516, 11396980, 11683369, 11891319, 12090476, 12657123, 12926121, 14660280, 14760383, 16763940, 18367246, 18378390, 28693228, 30673867, 8598045, 9087563, 9288768, 9290961, 9354423, 9537583, 9662254, 9928473		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carcinoma	Carcinoma	CTD_human_DG	16061637		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carcinoma	Carcinoma	Pubtator	18517280	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	10389981, 15060557, 15633221, 18567082, 19818350, 21679157, 30773529, 9472637	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	12800227	Inhibit	★☆☆☆☆ Found in Text Mining only
Carcinoma in Situ	Carcinoma in situ	Pubtator	17164758	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma in situ of uterine cervix	Cervical Intraepithelial Neoplasia	BEFREE	12144820		★☆☆☆☆ Found in Text Mining only
Carcinoma Intraductal Noninfiltrating	Intraductal noninfiltrating carcinoma	Pubtator	17164758	Inhibit	★☆☆☆☆ Found in Text Mining only
Carcinoma Large Cell	Large cell carcinoma	Pubtator	17348444	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	11412230, 15569992, 29752880		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	10375597, 10411902, 10735505, 11273776, 11683369, 11731438, 11788890, 12007194, 14976524, 15231689, 15313915, 15361849, 15627891, 15671544, 15723714, 15935551, 16231322, 16513840, 16800968, 17255269, 17609851, 18484646, 19267103, 20814237, 22425911, 23614702, 27716889, 27766520, 28036263, 28404875, 28714963, 30956756, 8620533, 8971157, 9187107, 9187130, 9258656, 9290949, 9581816		★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	28289900	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	10666370, 18517280, 25230976, 3125959, 8598045	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Small Cell	Small cell carcinoma	Pubtator	17348444	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	10027335, 10732756, 15150628, 16821595, 19047905, 19131950	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	12765416, 12865924, 35254116	Inhibit	★☆☆☆☆ Found in Text Mining only
Carcinoma Transitional Cell	Transitional cell carcinoma	Pubtator	10666370	Inhibit	★☆☆☆☆ Found in Text Mining only
Carcinoma Transitional Cell	Transitional cell carcinoma	Pubtator	22393963	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Basal Cell	Carcinoma	BEFREE	17107382		★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	10204806, 11461085, 9569038, 9713284		★☆☆☆☆ Found in Text Mining only
Carcinoma, Spindle-Cell	Carcinoma	CTD_human_DG	16061637		★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	10675384, 10999736, 11113868, 11235906, 11498789, 12144820, 12483524, 12657123, 12698186, 14675322, 16865265, 18608185, 19700237, 19730990, 28639889, 9462708, 9537577		★☆☆☆☆ Found in Text Mining only
Cervical Intraepithelial Neoplasia	Cervical Intraepithelial Neoplasia	BEFREE	11531281, 11875703, 28414756, 31771040		★☆☆☆☆ Found in Text Mining only
Cervix carcinoma	Cervix carcinoma	BEFREE	10027335, 10585575, 10999736, 11113868, 11235906, 11389064, 11498789, 12144820, 12355215, 12483524, 12657123, 12698186, 14675322, 16865265, 18608185, 19700237, 19730990, 28639889, 8824874, 9242443, 9307297, 9537577		★☆☆☆☆ Found in Text Mining only
Chagas Disease	Chagas disease	Pubtator	19414370	Associate	★☆☆☆☆ Found in Text Mining only
Child Development Disorders, Pervasive	Development Disorder	GWASCAT_DG	28540026		★☆☆☆☆ Found in Text Mining only
Childhood Acute Lymphoblastic Leukemia	Lymphoblastic Leukemia	BEFREE	11532518, 15026336, 16039715, 16357833, 29085517, 9823330		★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	LHGDN	18618300		★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	BEFREE	19287191		★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	Pubtator	24757411	Associate	★☆☆☆☆ Found in Text Mining only
Chordoma	Chordoma	BEFREE	23019410		★☆☆☆☆ Found in Text Mining only
Chordoma	Chordoma	Pubtator	23019410	Inhibit	★☆☆☆☆ Found in Text Mining only
Cirrhosis	Cirrhosis	BEFREE	28790842		★☆☆☆☆ Found in Text Mining only
Clear-cell metastatic renal cell carcinoma	Renal Carcinoma	BEFREE	17539022		★☆☆☆☆ Found in Text Mining only
Colitis Ulcerative	Ulcerative colitis	Pubtator	17143956	Inhibit	★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	10912665, 12090476, 16733051		★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	17393360, 8598045	Associate	★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic Neoplasms	BEFREE	24370550		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	10555761, 11606365, 12090476, 12355215, 12530066, 15196543, 16510588, 17373735, 17382535, 20083853, 22990173, 23797051, 29069730, 29516675, 8674044, 9197530		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	10555761, 12177781, 17373735, 23573237, 39332629, 9197530	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	LHGDN	12090476, 12177781, 12419158, 12964015, 17373735, 18097574, 18426086		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	23797051	Inhibit	★☆☆☆☆ Found in Text Mining only
Congenital chromosomal disease	Congenital Chromosomal Disease	BEFREE	9307297		★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	10096566, 11406557, 12543802, 18378390, 3125959, 7806217, 9171996, 9233780, 9721855		★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	GWASCAT_DG	28753643		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	BEFREE	17143956, 20083852		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn disease	Pubtator	17143956	Inhibit	★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	28049566		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	17846126		★☆☆☆☆ Found in Text Mining only
Differentiated Thyroid Gland Carcinoma	Thyroid Carcinoma	BEFREE	20606729, 28703219		★☆☆☆☆ Found in Text Mining only
Diffuse Large B-Cell Lymphoma	Diffuse Lymphoma	BEFREE	14719066, 15480422, 16715073, 17712558		★☆☆☆☆ Found in Text Mining only
Digestive System Neoplasms	Digestive system neoplasm	Pubtator	8598045	Associate	★☆☆☆☆ Found in Text Mining only
Ductal Breast Carcinoma	Breast Carcinoma	BEFREE	10930803		★☆☆☆☆ Found in Text Mining only
Ductal Carcinoma	Ductal Carcinoma	LHGDN	15998374		★☆☆☆☆ Found in Text Mining only
Dyskinesias	Dyskinesia	Pubtator	10732756	Associate	★☆☆☆☆ Found in Text Mining only
Dyspepsia	Dysphasia	Pubtator	15609389	Inhibit	★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	10652418, 12926121, 9187105		★☆☆☆☆ Found in Text Mining only
Endometrial Hyperplasia	Endometrial hyperplasia	Pubtator	15627891	Associate	★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial Neoplasms	LHGDN	12926121		★☆☆☆☆ Found in Text Mining only
Ependymoma	Ependymoma	BEFREE	16616114		★☆☆☆☆ Found in Text Mining only
Epithelioma	Epithelioma	BEFREE	10204806, 10334551, 15044096, 18357366, 18517280, 21711110		★☆☆☆☆ Found in Text Mining only
Esophageal Achalasia	Esophageal achalasia	Pubtator	19414370, 20163722	Associate	★☆☆☆☆ Found in Text Mining only
Esophageal carcinoma	Esophageal Carcinoma	BEFREE	10728669, 10812172, 10896994, 11245468, 11574776, 12632095, 12697969, 16564166, 9233782		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophagus Neoplasm	BEFREE	10812172, 11245468, 12632095, 12697969, 16564166, 9233782		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophagus Neoplasm	LHGDN	12697969		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophageal neoplasm	Pubtator	16821595	Inhibit	★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophageal neoplasm	Pubtator	39725880	Associate	★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	22578181, 26857264	Associate	★☆☆☆☆ Found in Text Mining only
Ewings sarcoma	Ewing sarcoma	BEFREE	9818023		★☆☆☆☆ Found in Text Mining only
Familial multiple trichoepitheliomata	Multiple Trichoepithelioma	BEFREE	18519675		★☆☆☆☆ Found in Text Mining only
Fanconi Anemia	Fanconi Anemia	BEFREE	15661754		★☆☆☆☆ Found in Text Mining only
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)	Anemia	BEFREE	15661754		★☆☆☆☆ Found in Text Mining only
Folic Acid Deficiency	Folic Acid Deficiency	BEFREE	29434897		★☆☆☆☆ Found in Text Mining only
Follicular thyroid carcinoma	Follicular Thyroid Carcinoma	BEFREE	10448301		★☆☆☆☆ Found in Text Mining only
Gallbladder Carcinoma	Gallbladder cancer	BEFREE	12057912, 17084965		★☆☆☆☆ Found in Text Mining only
Gallbladder Neoplasms	Gallbladder neoplasm	Pubtator	12057912	Associate	★☆☆☆☆ Found in Text Mining only
Gastrointestinal Neoplasms	Gastrointestinal neoplasm	Pubtator	12973852	Associate	★☆☆☆☆ Found in Text Mining only
Gastrointestinal Neoplasms	Gastrointestinal Neoplasms	BEFREE	17393360, 8640789, 9108441		★☆☆☆☆ Found in Text Mining only
Germ cell tumor	Tumor	BEFREE	11809703		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	19760177, 21928112		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	19760177	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	19760177, 21928112		★☆☆☆☆ Found in Text Mining only
Head and Neck Carcinoma	Head And Neck Carcinoma	BEFREE	10416589, 18357366, 8912845		★☆☆☆☆ Found in Text Mining only
Head and Neck Neoplasms	Head and neck neoplasm	Pubtator	11683369, 8790406	Associate	★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic Neoplasms	BEFREE	10499611		★☆☆☆☆ Found in Text Mining only
Hematopoietic Neoplasms	Hematopoietic Neoplasms	BEFREE	14638866, 16740775		★☆☆☆☆ Found in Text Mining only
Hereditary Breast and Ovarian Cancer Syndrome	Hereditary breast and ovarian cancer syndrome	Pubtator	15073846, 17164758	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary clear cell renal cell carcinoma	Hereditary Renal Carcinoma	ORPHANET_DG			★☆☆☆☆ Found in Text Mining only
Hereditary clear cell renal cell carcinoma	Hereditary Renal Carcinoma	Orphanet			★☆☆☆☆ Found in Text Mining only
Hereditary Diffuse Gastric Cancer	Gastric Cancer	CTD_human_DG	12958204		★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin Disease	BEFREE	17008276		★☆☆☆☆ Found in Text Mining only
Hypoalbuminemia	Hypoalbuminemia	BEFREE	16313263		★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	11731438		★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Idiopathic pulmonary fibrosis	Pubtator	12169206	Associate	★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	BEFREE	19832807		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	17143956, 20083852		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory bowel disease	Pubtator	17143956	Inhibit	★☆☆☆☆ Found in Text Mining only
Intracranial Aneurysm	Intracranial Aneurysm	BEFREE	29531279		★☆☆☆☆ Found in Text Mining only
Intracranial Aneurysm	Intracranial Aneurysm	GWASCAT_DG	29531279		★☆☆☆☆ Found in Text Mining only
Intracranial Aneurysm	Intracranial aneurysm	Pubtator	29531279	Associate	★☆☆☆☆ Found in Text Mining only
Intracranial Hypertension	Intracranial hypertension	Pubtator	29531279	Associate	★☆☆☆☆ Found in Text Mining only
Intrahepatic Cholangiocarcinoma	Intrahepatic Cholangiocarcinoma	BEFREE	16343073		★☆☆☆☆ Found in Text Mining only
Invasive Ductal Breast Carcinoma	Invasive Duct and Lobular Carcinoma	BEFREE	26491255		★☆☆☆☆ Found in Text Mining only
Keratocystic Odontogenic Tumor	Keratocystic Odontogenic Tumor	BEFREE	18221322		★☆☆☆☆ Found in Text Mining only
Kidney Neoplasm	Kidney Neoplasm	LHGDN	15080505		★☆☆☆☆ Found in Text Mining only
Kidney Neoplasm	Kidney Neoplasm	BEFREE	18378390		★☆☆☆☆ Found in Text Mining only
Kidney Neoplasms	Kidney neoplasm	Pubtator	15357873, 27725787	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Neoplasms	Kidney neoplasm	Pubtator	9403704	Inhibit	★☆☆☆☆ Found in Text Mining only
Laryngeal Squamous Cell Carcinoma	Laryngeal Carcinoma	BEFREE	18357366		★☆☆☆☆ Found in Text Mining only
Leigh syndrome French Canadian type	Leigh syndrome	Pubtator	29531279	Associate	★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	10362136, 10499611, 15026336, 16740775, 9170214, 9401074, 9730598, 9823330, 9926922		★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	LHGDN	15026336, 16740775		★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	9401074	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	10362136, 15902282, 16740775, 9401074, 9823330		★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	GWASCAT_DG	27903959		★☆☆☆☆ Found in Text Mining only
Leukoplakia	Leukoplakia	BEFREE	10732756		★☆☆☆☆ Found in Text Mining only
Lip and Oral Cavity Carcinoma	Lip and Oral Cavity Carcinoma	CLINVAR_DG	28580594		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Liver carcinoma	Liver carcinoma	BEFREE	10389981, 10589760, 10706123, 15060557, 15610452, 15633221, 18567082, 18595145, 19502167, 22766745, 30773529, 9472637		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	LHGDN	12800227, 15060557, 15633221, 18567082, 18595145		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver Cirrhosis	BEFREE	28790842		★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	CTD_human_DG	12112319		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Liver neoplasms	Liver neoplasms	BEFREE	19502167		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung Diseases	Lung disease	Pubtator	11683369, 19931269	Associate	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	10411902, 10735505, 11683369, 12169206, 12765416, 14976524, 15627891, 16513840, 16885564, 17328863, 17348444, 17694439, 17890317, 18319262, 18484646, 19181417, 20814237, 22425911, 23614702, 23709347, 24757411, 25040980, 25340791, 29540221, 30770797, 33437205, 34257703, 35254116, 8620533	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung Neoplasms	Lung Neoplasms	CTD_human_DG	10959838, 16061637		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung Neoplasms	Lung Neoplasms	BEFREE	11273776, 12007194, 17140695, 17255269, 19096006, 19267103, 19418484, 21962529, 8620533, 9187107, 9393735, 9581816, 9662254, 9850082		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung Neoplasms	Lung Neoplasms	LHGDN	11788890, 12048684, 12169206, 15935551, 16231322, 16513840, 17328863, 17694439, 18690840		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung Neoplasms	Lung neoplasms	Pubtator	24464917	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	17373735, 23573237	Associate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	20606729, 30941950	Inhibit	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic Metastasis	BEFREE	23944951		★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	GWASCAT_DG	28049566, 30626913, 30718901		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant Childhood Neoplasm	Malignant Neoplasm	BEFREE	12057912		★☆☆☆☆ Found in Text Mining only
Malignant Head and Neck Neoplasm	Head and neck cancer	BEFREE	18357366, 8912845		★☆☆☆☆ Found in Text Mining only
Malignant mesothelioma	Malignant Mesothelioma	BEFREE	12168054, 14569398		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	10363992, 10463571, 11325823, 11425271, 11562178, 12118213, 12124341, 12231533, 12362975, 12649173, 14566838, 14999140, 15674328, 16030101, 17374991, 18338496, 18593338, 19080258, 20417865, 21095196, 21557333, 23969757, 25735361, 26491255, 27236032, 30941950, 8764101, 8895736, 9288768		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of endometrium	Endometrial Cancer	BEFREE	10652418, 9187105		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of esophagus	Esophagus Neoplasm	BEFREE	10812172, 11245468, 12632095, 12697969, 16564166, 9233782		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of gallbladder	Gallbladder cancer	BEFREE	19452299		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of kidney	Kidney Cancer	BEFREE	11320209, 9258656, 9290948, 9679951		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	BEFREE	10706123, 28790842, 9472637		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	CTD_human_DG	12112319		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	10375597, 10411902, 10426784, 10735505, 11273776, 11479891, 11683369, 11788890, 12007194, 14976524, 15231689, 15313915, 15361849, 15627891, 15671544, 15723714, 15935551, 16115913, 16231322, 16513840, 16800968, 17019711, 17255269, 17609851, 18484646, 19267103, 20814237, 22425911, 23614702, 27716889, 27766520, 28036263, 28404875, 28714963, 30956756, 8620533, 8971157, 9187107, 9187130, 9258656, 9290949, 9581816, 9823304		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	CTD_human_DG	10959838, 16061637		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	10204806, 11461085, 9569038, 9713284		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	10096564, 11406559, 12890991, 8813121		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	15705877, 17548701, 19893039, 9583683		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	CTD_human_DG	17548701		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of salivary gland	Malignant neoplasm of salivary gland	BEFREE	30673867		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	10440747, 11605039, 11916557, 12218081, 15609389, 15929169, 16773697, 24729090, 9108441, 9788626		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	CTD_human_DG	12958204		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of thyroid	Thyroid cancer	BEFREE	16419058, 16698048, 9458330		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of tongue	Malignant Neoplasm Of Tongue	BEFREE	11221865		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	11412230, 15569992, 29752880		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	10096564, 10334551, 10362136, 10377436, 10389981, 10519387, 10706123, 10754525, 10896994, 11169516, 11248081, 11712940, 11746990, 11891319, 12057912, 12362975, 12432269, 12473516, 12518863, 12574506, 12649173, 12771912, 12867802, 14554243, 14569398, 15013581, 15026336, 15032614, 15101042, 15168591, 15328196, 15361849, 15609389, 15627891, 16085127, 16221525, 16225988, 16510588, 17164758, 17393360, 17457056, 18367246, 18378390, 19086848, 19267103, 20033706, 20083853, 20647332, 21316334, 21557333, 23969757, 24370550, 25283145, 25711523, 26491255, 27572663, 28199992, 28790842, 29282095, 29642934, 30242938, 8653678, 9012482, 9187130, 9258656, 9366528, 9391102, 9405656, 9671317, 9679951, 9926922, 9928473		★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	10999736, 11113868, 11235906, 11498789, 12144820, 12483524, 12657123, 12698186, 14675322, 16865265, 18608185, 19700237, 19730990, 28639889, 9537577		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	12090476, 16733051		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	10493522, 11425271, 11562178, 12353263, 16819513, 20417865		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	LHGDN	12231533, 12362975, 12452072, 14566838, 15073846, 15998374, 18338496, 19130459		★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	BEFREE	16311119		★☆☆☆☆ Found in Text Mining only
Megaesophagus	Megaesophagus	BEFREE	19414370		★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	BEFREE	28049566		★☆☆☆☆ Found in Text Mining only
Merkel cell carcinoma	Merkel cell carcinoma	BEFREE	19326371, 8653678		★☆☆☆☆ Found in Text Mining only
Mesothelioma	Mesothelioma	LHGDN	14569398		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mesothelioma	Mesothelioma	CTD_human_DG	14569398, 18038314		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MOHR-TRANEBJAERG SYNDROME	MOHR-TRANEBJAERG SYNDROME	BEFREE	16395674		★☆☆☆☆ Found in Text Mining only
Mouth Diseases	Mouth disease	Pubtator	10732756	Associate	★☆☆☆☆ Found in Text Mining only
Mouth Neoplasms	Mouth Neoplasms	LHGDN	14719099		★☆☆☆☆ Found in Text Mining only
Mouth Neoplasms	Mouth neoplasm	Pubtator	19138989	Associate	★☆☆☆☆ Found in Text Mining only
Mucoepidermoid Carcinoma	Mucoepidermoid Carcinoma	BEFREE	20060354, 21962529		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	16313263		★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	BEFREE	10489166, 15902282, 18367246		★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	LHGDN	18367246		★☆☆☆☆ Found in Text Mining only
Myelodysplastic Syndromes	Myelodysplastic syndrome	Pubtator	21286011	Associate	★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia, Chronic	Myeloid Leukemia	BEFREE	10362136, 10632340, 16740775		★☆☆☆☆ Found in Text Mining only
Narcolepsy	Narcolepsy	GWASDB_DG	19629137		★☆☆☆☆ Found in Text Mining only
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	BEFREE	10738252, 11568610, 11932901, 17359554, 20473931, 20552362		★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Carcinoma	Nasopharyngeal carcinoma	Pubtator	11932901, 20473931, 22815911	Associate	★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Carcinoma	Nasopharyngeal carcinoma	Pubtator	23534718	Inhibit	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	10023002, 10063967, 10212817, 10223242, 10375597, 10389981, 10416589, 10448301, 10463571, 10493985, 10495423, 10519387, 10632340, 10675384, 10679912, 10706123, 10717620, 10728669, 10735505, 10738252, 10745171, 10754525, 10758156, 10810397, 10912665, 10930803, 10999736, 11004671, 11029509, 11115560, 11156420, 11169516, 11200774, 11221865, 11248081, 11273776, 11301476, 11313927, 11317523, 11389064, 11390984, 11406559, 11461085, 11562178, 11568610, 11574776, 11605039, 11683369, 11712940, 11724302, 11746990, 11788890, 11916557, 12057912, 12090476, 12118213, 12218081, 12231533, 12353263, 12355215, 12362975, 12432269, 12457722, 12473516, 12502211, 12518863, 12529969, 12530066, 12574506, 12627509, 12649173, 12657123, 12765416, 12771912, 12839965, 12867802, 12890744, 12890991, 12924447, 12926121, 12960804, 14618621, 14624786, 14638866, 14760383, 14976524, 14991669, 15007387, 15032614, 15073846, 15150628, 15313915, 15328196, 15334546, 15361849, 15384174, 15389252, 15610452, 15633221, 15671544, 15902282, 16030101, 16085127, 16115913, 16225988, 16357833, 16378185, 16454554, 16510588, 16698048, 16740775, 16763940, 16863736, 16865265, 16985034, 17084965, 17107382, 17142325, 17255269, 17328863, 17359554, 17374991, 17382535, 17393360, 17457056, 17548701, 17890317, 17895751, 18162546, 18211945, 18338497, 18357366, 18378390, 18413833, 18593338, 18693168, 18985481, 19080258, 19086848, 19096006, 19287191, 19418484, 19434452, 19700237, 19716840, 19760177, 20033706, 20060354, 20083852, 20589934, 20606729, 20690795, 21095196, 21685375, 21757356, 21962529, 21983861, 21999220, 22425911, 23780737, 23969757, 24223161, 24370550, 24909176, 25283145, 25340791, 25401976, 25735361, 26491255, 26796853, 26929601, 27236032, 27572663, 28094435, 28639889, 28790842, 29069730, 29282095, 29516675, 30248342, 31646677, 8620533, 8674044, 8764101, 8912845, 8988031, 9063739, 9108441, 9111863, 9178887, 9187107, 9187130, 9205070, 9288768, 9290948, 9307297, 9349498, 9366528, 9378557, 9393735, 9454904, 9458330, 9521166, 9521167, 9537583, 9541679, 9559339, 9563464, 9581816, 9583683, 9635574, 9671317, 9679951, 9699673, 9699676, 9721855, 9744498, 9811467, 9820739, 9823330, 9850082, 9928473		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	17570703, 9667647		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neuroblastoma	Neuroblastoma	Pubtator	23991058, 9667647	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neuroendocrine Tumors	Neuroendocrine Tumors	BEFREE	8653678		★☆☆☆☆ Found in Text Mining only
Neuromuscular Diseases	Neuromuscular disease	Pubtator	29095316	Associate	★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	10519387, 10735505, 11169516, 11325823, 12765416, 14976524, 15150628, 15197197, 15231689, 15313915, 15341994, 15361849, 15541815, 17328863, 18338497, 24185125, 24909176, 25040980, 25754026, 26796853, 26929601, 27572663, 28036263, 28404875, 9187130, 9635574		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	CTD_human_DG	11788890		★☆☆☆☆ Found in Text Mining only
Noninfiltrating Intraductal Carcinoma	Ductal carcinoma	LHGDN	15998374, 17164758		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	28767316, 33491310	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteosarcoma	Osteosarcoma	BEFREE	23566839, 30655842, 9818023		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	9818023	Associate	★☆☆☆☆ Found in Text Mining only
Ovarian Carcinoma	Ovarian Carcinoma	BEFREE	11461085, 9713284		★☆☆☆☆ Found in Text Mining only
Ovarian Diseases	Ovarian diseases	Pubtator	9569038	Associate	★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	10204806, 11461085, 9569038		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	11461085, 9569038	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	10679912, 11406559, 12890991, 8813121, 9563464		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasm	Pancreatic Neoplasm	BEFREE	8813121		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	17912030	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	19434452	Inhibit	★☆☆☆☆ Found in Text Mining only
Pancytopenia	Pancytopenia	BEFREE	19016724		★☆☆☆☆ Found in Text Mining only
Panic Disorder	Panic disorder	Pubtator	29249830	Associate	★☆☆☆☆ Found in Text Mining only
Papilloma	Papilloma	BEFREE	12432269		★☆☆☆☆ Found in Text Mining only
Paraparesis Tropical Spastic	Tropical spastic paraparesis	Pubtator	34092254	Associate	★☆☆☆☆ Found in Text Mining only
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE	Parkinson Disease	BEFREE	19832807		★☆☆☆☆ Found in Text Mining only
Phyllodes Tumor	Phyllodes Tumor	BEFREE	11266524		★☆☆☆☆ Found in Text Mining only
Pleural effusion disorder	Pleural effusion	BEFREE	15013581		★☆☆☆☆ Found in Text Mining only
Precursor B-cell lymphoblastic leukemia	Lymphoblastic Leukemia	BEFREE	10362136		★☆☆☆☆ Found in Text Mining only
Precursor Cell Lymphoblastic Leukemia Lymphoma	Lymphoblastic Leukemia	BEFREE	10499611, 16357833, 16740775, 26745060		★☆☆☆☆ Found in Text Mining only
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma	Lymphoblastic Leukemia	BEFREE	10362136, 10499611, 9823330		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	10754525, 12627509, 15705877, 17548701, 19893039, 9583683		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostate carcinoma	Prostate cancer	GWASCAT_DG	31095341		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Neoplasms	Prostatic Neoplasms	LHGDN	17548701, 18953408		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Neoplasms	Prostatic Neoplasms	CTD_human_DG	17548701		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	18953408, 20053773	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Neoplasms	Prostatic Neoplasms	BEFREE	9583683		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Renal carcinoma	Renal Carcinoma	BEFREE	11320209, 8598045, 9679951		★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	10850413, 11406557, 12543802, 3125959, 7806217, 8598045, 9171996, 9178887, 9233780, 9258656, 9290948, 9679951, 9721855		★☆☆☆☆ Found in Text Mining only
Salivary Gland Neoplasms	Salivary gland neoplasm	BEFREE	12890744		★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	BEFREE	9818023		★☆☆☆☆ Found in Text Mining only
Sarcoma Ewing	Sarcoma	Pubtator	9818023	Associate	★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	GWASCAT_DG	26198764, 28540026, 28991256, 30285260, 30626913		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sebaceous Adenocarcinoma	Sebaceous Adenocarcinoma	BEFREE	12095833		★☆☆☆☆ Found in Text Mining only
Secondary malignant neoplasm of colon and/or rectum	Colorectal Neoplasms	GWASCAT_DG	30738427		★☆☆☆☆ Found in Text Mining only
Shwachman syndrome	Shwachman Syndrome	BEFREE	19016724		★☆☆☆☆ Found in Text Mining only
Skin carcinoma	Skin Carcinoma	BEFREE	9406824		★☆☆☆☆ Found in Text Mining only
Skin Neoplasms	Skin neoplasm	Pubtator	9406824	Associate	★☆☆☆☆ Found in Text Mining only
Small cell carcinoma of lung	Lung carcinoma	BEFREE	12007194, 15671544, 17119051, 22085272, 3125959, 9187130, 9740075		★☆☆☆☆ Found in Text Mining only
Small Cell Lung Carcinoma	Small cell lung carcinoma	Pubtator	22085272, 3125959, 8620533	Associate	★☆☆☆☆ Found in Text Mining only
Spastic paraplegia 11 autosomal recessive	Spastic paraplegia	Pubtator	10666370	Associate	★☆☆☆☆ Found in Text Mining only
Sporadic Breast Carcinoma	Breast Carcinoma	BEFREE	15047740, 20417865, 20490964, 8968105, 9288768		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	10732756, 10745170, 10745171, 10812172, 11724302, 15150628, 15231689, 18299890, 18494825, 21147548, 23944951, 30956756, 8790406, 9671317, 9699676, 9844607, 9850082		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	LHGDN	12839965, 15231689, 18299890, 18494825		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	10896994, 12839965, 16564166, 16570269, 16863736, 18365557, 22578181, 9699676		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	10732756, 11683369, 16454554, 19138989, 24278325, 25735654, 8790406, 9797729	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of lung	Lung carcinoma	BEFREE	15231689, 31502191		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of mouth	Oral cavity carcinoma	BEFREE	16454554		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	10810397, 11221865, 11683369, 15328196, 24278325, 8912845, 9671317, 9797729		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	10440747, 11605039, 11916557, 12218081, 12692839, 15609389, 15929169, 16773697, 24729090, 9108441, 9788626		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	12218081, 12669232, 15609389	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Stomach Neoplasms	Stomach Neoplasms	CTD_human_DG	12958204		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Stomach Neoplasms	Stomach neoplasms	Pubtator	14760383, 15929169, 16237777, 16773697, 17552003, 19419937, 22969225, 23131390, 25875960, 26857264	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Stomach Neoplasms	Stomach Neoplasms	LHGDN	15080495, 15929169, 16217683		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Stomach Neoplasms	Stomach Neoplasms	BEFREE	19751438		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TARSAL-CARPAL COALITION SYNDROME	Tarsal-Carpal Coalition Syndrome	BEFREE	10666370		★☆☆☆☆ Found in Text Mining only
Teratoma	Teratoma	BEFREE	11809703		★☆☆☆☆ Found in Text Mining only
Testicular Germ Cell Tumor	Testicular Germ Cell Tumor	BEFREE	14670177		★☆☆☆☆ Found in Text Mining only
Testicular Germ Cell Tumor	Testicular germ cell tumor	Pubtator	14670177	Associate	★☆☆☆☆ Found in Text Mining only
Thrombocytopenia	Thrombocytopenia	Pubtator	12771912	Associate	★☆☆☆☆ Found in Text Mining only
Thymoma	Thymoma	BEFREE	14624786		★☆☆☆☆ Found in Text Mining only
Thyroid carcinoma	Thyroid Carcinoma	BEFREE	10448301, 16419058, 16698048, 9458330		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	BEFREE	10448301, 16419058, 16698048, 9458330		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasms	Thyroid cancer	Pubtator	19589279, 20606729, 28703219	Associate	★☆☆☆☆ Found in Text Mining only
Torre-Muir syndrome	Torre-Muir Syndrome	BEFREE	12095833		★☆☆☆☆ Found in Text Mining only
Transitional cell carcinoma of bladder	Bladder carcinoma	BEFREE	22613411		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	21069451	Inhibit	★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	BEFREE	17143956, 20083852, 9233782		★☆☆☆☆ Found in Text Mining only
Undifferentiated carcinoma	Carcinoma	CTD_human_DG	16061637		★☆☆☆☆ Found in Text Mining only
Unipolar Depression	Mental Depression	GWASCAT_DG	28049566		★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	10666370, 22393963, 22613411, 29752880	Associate	★☆☆☆☆ Found in Text Mining only
Urologic Neoplasms	Urologic Neoplasms	CTD_human_DG	23618899		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Urothelial Carcinoma	Urothelial Carcinoma	BEFREE	23618899		★☆☆☆☆ Found in Text Mining only
Uterine Cervical Dysplasia	Uterine disease	Pubtator	11875703, 14675322, 15570308, 31771040	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Cervical Dysplasia	Uterine disease	Pubtator	28414756	Inhibit	★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	10027335, 12657123, 12698186, 14675322, 15570308, 16004614, 17009983, 19700237, 25422218, 31771040	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	28414756	Inhibit	★☆☆☆☆ Found in Text Mining only
Von Hippel-Lindau Syndrome	Von Hippel-Lindau Syndrome	BEFREE	12839965, 1756459, 9624531		★☆☆☆☆ Found in Text Mining only