TFF1 (trefoil factor 1)

Gene

• Entrez ID: 7031
• Gene name: Trefoil factor 1
• Gene symbol: TFF1
• Synonyms (NCBI Gene): BCEI, D21S21, HP1.A, HPS2, pNR-2, pS2
• Chromosome: 21
• Chromosome location: 21q22.3
• Summary: Members of the trefoil family are characterized by having at least one copy of the trefoil motif, a 40-amino acid domain that contains three conserved disulfides. They are stable secretory proteins expressed in gastrointestinal mucosa. Their functions are

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT053601	hsa-miR-423-5p	Luciferase reporter assay, qRT-PCR, Western blot	24486742
MIRT053601	hsa-miR-423-5p	Luciferase reporter assay, qRT-PCR, Western blot	24486742
MIRT438352	hsa-miR-504-5p	Flow, Luciferase reporter assay, qRT-PCR, Western blot	25015107
MIRT438352	hsa-miR-504-5p	Flow, Luciferase reporter assay, qRT-PCR, Western blot	25015107
MIRT437974	hsa-miR-218-5p	Immunohistochemistry, In situ hybridization, LacZ reporter assay, qRT-PCR, Western blot	25652124
MIRT437974	hsa-miR-218-5p	Immunohistochemistry, In situ hybridization, LacZ reporter assay, qRT-PCR, Western blot	25652124
MIRT438352	hsa-miR-504-5p	Flow, Luciferase reporter assay, qRT-PCR, Western blot	25015107
MIRT438352	hsa-miR-504-5p	Flow, Luciferase reporter assay, qRT-PCR, Western blot	25015107
MIRT437974	hsa-miR-218-5p	Immunohistochemistry, In situ hybridization, LacZ reporter assay, qRT-PCR, Western blot	25652124
MIRT437974	hsa-miR-218-5p	Immunohistochemistry, In situ hybridization, LacZ reporter assay, qRT-PCR, Western blot	25652124
MIRT737180	hsa-miR-326	Luciferase reporter assay, Western blotting, Immunoprecipitaion (IP), qRT-PCR, In situ hybridization	31961997
MIRT1420537	hsa-miR-1295	CLIP-seq
MIRT1420538	hsa-miR-187	CLIP-seq
MIRT1420539	hsa-miR-2278	CLIP-seq
MIRT1420540	hsa-miR-298	CLIP-seq
MIRT1420541	hsa-miR-3144-5p	CLIP-seq
MIRT1420542	hsa-miR-3158-5p	CLIP-seq
MIRT1420543	hsa-miR-3191	CLIP-seq
MIRT1420544	hsa-miR-3192	CLIP-seq
MIRT1420545	hsa-miR-3199	CLIP-seq
MIRT1420546	hsa-miR-330-5p	CLIP-seq
MIRT1420547	hsa-miR-34b	CLIP-seq
MIRT1420548	hsa-miR-3689d	CLIP-seq
MIRT1420549	hsa-miR-3973	CLIP-seq
MIRT1420550	hsa-miR-4274	CLIP-seq
MIRT1420551	hsa-miR-4314	CLIP-seq
MIRT1420552	hsa-miR-4514	CLIP-seq
MIRT1420553	hsa-miR-4537	CLIP-seq
MIRT1420554	hsa-miR-4646-5p	CLIP-seq
MIRT1420555	hsa-miR-4649-3p	CLIP-seq
MIRT1420556	hsa-miR-4652-5p	CLIP-seq
MIRT1420557	hsa-miR-4667-5p	CLIP-seq
MIRT1420558	hsa-miR-4669	CLIP-seq
MIRT1420559	hsa-miR-4692	CLIP-seq
MIRT1420560	hsa-miR-4700-5p	CLIP-seq
MIRT1420561	hsa-miR-4717-5p	CLIP-seq
MIRT1420562	hsa-miR-4731-5p	CLIP-seq
MIRT1420563	hsa-miR-4753-3p	CLIP-seq
MIRT1420564	hsa-miR-4775	CLIP-seq
MIRT1420565	hsa-miR-520g	CLIP-seq
MIRT1420566	hsa-miR-520h	CLIP-seq
MIRT1420567	hsa-miR-590-3p	CLIP-seq
MIRT1420568	hsa-miR-885-3p	CLIP-seq
MIRT1420569	hsa-miR-889	CLIP-seq
MIRT1420537	hsa-miR-1295	CLIP-seq
MIRT1420538	hsa-miR-187	CLIP-seq
MIRT1420539	hsa-miR-2278	CLIP-seq
MIRT1420540	hsa-miR-298	CLIP-seq
MIRT1420541	hsa-miR-3144-5p	CLIP-seq
MIRT1420542	hsa-miR-3158-5p	CLIP-seq
MIRT1420543	hsa-miR-3191	CLIP-seq
MIRT1420544	hsa-miR-3192	CLIP-seq
MIRT1420545	hsa-miR-3199	CLIP-seq
MIRT1420546	hsa-miR-330-5p	CLIP-seq
MIRT1420547	hsa-miR-34b	CLIP-seq
MIRT1420548	hsa-miR-3689d	CLIP-seq
MIRT1420549	hsa-miR-3973	CLIP-seq
MIRT1420550	hsa-miR-4274	CLIP-seq
MIRT1420551	hsa-miR-4314	CLIP-seq
MIRT1420552	hsa-miR-4514	CLIP-seq
MIRT1420553	hsa-miR-4537	CLIP-seq
MIRT1420554	hsa-miR-4646-5p	CLIP-seq
MIRT1420555	hsa-miR-4649-3p	CLIP-seq
MIRT1420556	hsa-miR-4652-5p	CLIP-seq
MIRT1420557	hsa-miR-4667-5p	CLIP-seq
MIRT1420558	hsa-miR-4669	CLIP-seq
MIRT1420559	hsa-miR-4692	CLIP-seq
MIRT1420560	hsa-miR-4700-5p	CLIP-seq
MIRT1420561	hsa-miR-4717-5p	CLIP-seq
MIRT1420562	hsa-miR-4731-5p	CLIP-seq
MIRT1420563	hsa-miR-4753-3p	CLIP-seq
MIRT1420564	hsa-miR-4775	CLIP-seq
MIRT1420565	hsa-miR-520g	CLIP-seq
MIRT1420566	hsa-miR-520h	CLIP-seq
MIRT1420567	hsa-miR-590-3p	CLIP-seq
MIRT1420568	hsa-miR-885-3p	CLIP-seq
MIRT1420569	hsa-miR-889	CLIP-seq
MIRT1420537	hsa-miR-1295	CLIP-seq
MIRT1420538	hsa-miR-187	CLIP-seq
MIRT1420539	hsa-miR-2278	CLIP-seq
MIRT1420540	hsa-miR-298	CLIP-seq
MIRT1420541	hsa-miR-3144-5p	CLIP-seq
MIRT1420542	hsa-miR-3158-5p	CLIP-seq
MIRT1420543	hsa-miR-3191	CLIP-seq
MIRT1420544	hsa-miR-3192	CLIP-seq
MIRT1420545	hsa-miR-3199	CLIP-seq
MIRT1420546	hsa-miR-330-5p	CLIP-seq
MIRT1420547	hsa-miR-34b	CLIP-seq
MIRT1420548	hsa-miR-3689d	CLIP-seq
MIRT1420549	hsa-miR-3973	CLIP-seq
MIRT1420550	hsa-miR-4274	CLIP-seq
MIRT1420551	hsa-miR-4314	CLIP-seq
MIRT1420552	hsa-miR-4514	CLIP-seq
MIRT1420553	hsa-miR-4537	CLIP-seq
MIRT1420554	hsa-miR-4646-5p	CLIP-seq
MIRT1420555	hsa-miR-4649-3p	CLIP-seq
MIRT1420556	hsa-miR-4652-5p	CLIP-seq
MIRT1420557	hsa-miR-4667-5p	CLIP-seq
MIRT1420558	hsa-miR-4669	CLIP-seq
MIRT1420559	hsa-miR-4692	CLIP-seq
MIRT1420560	hsa-miR-4700-5p	CLIP-seq
MIRT1420561	hsa-miR-4717-5p	CLIP-seq
MIRT1420562	hsa-miR-4731-5p	CLIP-seq
MIRT1420564	hsa-miR-4775	CLIP-seq
MIRT1420565	hsa-miR-520g	CLIP-seq
MIRT1420566	hsa-miR-520h	CLIP-seq
MIRT1420567	hsa-miR-590-3p	CLIP-seq
MIRT1420568	hsa-miR-885-3p	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
AIP	Repression	21984905
BRCA1	Repression	11244506
ESR1	Activation	11517191;18543253
ESR1	Unknown	10037443;21984905
ESR2	Activation	11517191
ESR2	Unknown	10037443
FOXA1	Unknown	10073575
FOXA2	Unknown	10073575
HDAC1	Repression	19581286
HMGN1	Unknown	17938209
JUN	Unknown	12021387
MECP2	Repression	15870696
MTA1	Unknown	12431981
NCOA4	Unknown	15772083
NELFB	Repression	16452188
NELFB	Unknown	17043641
NFATC3	Activation	16219765
NFKB1	Activation	17565651
RELA	Activation	17565651
SP3	Activation	18543253

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	16189514, 21982860, 24798994, 25416956, 32296183
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	IBA
GO:0005615	Component	Extracellular space	IEA
GO:0005975	Process	Carbohydrate metabolic process	TAS	2303034
GO:0007165	Process	Signal transduction	IEA
GO:0008083	Function	Growth factor activity	IEA
GO:0008283	Process	Cell population proliferation	IEA
GO:0008285	Process	Negative regulation of cell population proliferation	IEA
GO:0010039	Process	Response to iron ion	IEA
GO:0030154	Process	Cell differentiation	IEA
GO:0030277	Process	Maintenance of gastrointestinal epithelium	IBA
GO:0030277	Process	Maintenance of gastrointestinal epithelium	IEA
GO:0035902	Process	Response to immobilization stress	IEA
GO:0043434	Process	Response to peptide hormone	IEA

Other IDs

• MIM: 113710
• HGNC: 11755
• e!Ensembl: ENSG00000160182

Protein

• UniProt ID: P04155
• Protein name: Trefoil factor 1 (Breast cancer estrogen-inducible protein) (PNR-2) (Polypeptide P1.A) (hP1.A) (Protein pS2)
• Protein function: Stabilizer of the mucous gel overlying the gastrointestinal mucosa that provides a physical barrier against various noxious agents. May inhibit the growth of calcium oxalate crystals in urine.
• PDB: 1HI7, 1PS2, 6V1D
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00088	Trefoil	31 → 71	Trefoil (P-type) domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Found in stomach, with highest levels in the upper gastric mucosal cells (at protein level). Detected in goblet cells of the small and large intestine and rectum, small submucosal glands in the esophagus, mucous acini of the sublingual
• Sequence:

  MATMENKVICALVLVSMLALGTLAEAQTETCTVAPRERQNCGFPGVTPSQCANKGCCFDD
  TVRGVPWCFYPNTIDVPPEEECEF

• Sequence length: 84

Pathways

KEGG:

Estrogen signaling pathway

Reactome:

Estrogen-dependent gene expression

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
CELIAC DISEASE	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PANCREATIC CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
URINARY BLADDER CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenocarcinoma	Adenocarcinoma	LHGDN	15967118, 16715141		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	16715141, 17143957, 18927283, 2311759, 25980439, 28281307, 28745797, 29809170, 31292446		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma Of Esophagus	Esophageal Cancer	BEFREE	15788668		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	30539871		★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	BEFREE	10982763, 16715141, 19172291, 25015107, 31399638		★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	LHGDN	16715141		★☆☆☆☆ Found in Text Mining only
Adenomatous Polyposis Coli	Multiple polyposis syndrome	BEFREE	16715141		★☆☆☆☆ Found in Text Mining only
Albinism	Albinism	BEFREE	11809908		★☆☆☆☆ Found in Text Mining only
Albinism, Oculocutaneous	Oculocutaneous albinism	BEFREE	19679886, 23215637, 31820501		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	18768471	Associate	★☆☆☆☆ Found in Text Mining only
Alzheimer Disease, Early Onset	Alzheimer disease	BEFREE	10694435, 9206974		★☆☆☆☆ Found in Text Mining only
Alzheimer disease, familial, type 3	Alzheimer disease	BEFREE	9172170		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease, Late Onset	Alzheimer disease	BEFREE	9111746		★☆☆☆☆ Found in Text Mining only
Amnesia	Amnesia	BEFREE	17981591		★☆☆☆☆ Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA	Syndromic microphthalmia	BEFREE	21747314, 28760494, 29809170		★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	30447498		★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	Pubtator	24843314	Associate	★☆☆☆☆ Found in Text Mining only
Barrett Esophagus	Barrett esophagus	BEFREE	10190312, 30831146		★☆☆☆☆ Found in Text Mining only
Barrett Esophagus	Barrett esophagus	Pubtator	10190312, 24550372	Associate	★☆☆☆☆ Found in Text Mining only
Benign Prostatic Hyperplasia	Benign Prostatic Hyperplasia	BEFREE	20112343		★☆☆☆☆ Found in Text Mining only
Blood Coagulation Disorders	Blood Coagulation Disorders	BEFREE	31820501		★☆☆☆☆ Found in Text Mining only
Bone Diseases	Bone disease	Pubtator	28143986	Associate	★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain neoplasms	Pubtator	29287594	Associate	★☆☆☆☆ Found in Text Mining only
Breast adenocarcinoma	Breast Adenocarcinoma	BEFREE	21937081		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	10727981, 11162921, 11327531, 14756547, 1505966, 15897566, 16452188, 1735955, 1763658, 20132413, 2180569, 2185238, 2290113, 2303034, 2430688, 2450536, 24843314, 2498085, 2583860, 2824472, 28687783, 28743541, 2899054, 3041593, 30457555, 3321071, 3665845, 3822834, 6593703, 7505265, 7607504, 7880621, 8265245, 9202892, 9306961, 9472649		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	10535357, 11438468, 1347193, 1850611, 1911216, 19129556, 19153192, 20126581, 20132413, 20525369, 20619646, 21505052, 2153395, 2185238, 2194831, 23675462, 24058517, 2458337, 24843314, 25287138, 26510686, 26758879, 2736207, 2824472, 29287594, 30431719, 30457247, 30655324, 37728703, 7531128, 8519655, 8948462, 9355742	Associate	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	28687783, 31986408	Stimulate	★☆☆☆☆ Found in Text Mining only
C-cell hyperplasia of thyroid	Thyroid Hyperplasia	BEFREE	9664907		★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	10737716, 12379766, 16437709, 17143957, 23329884	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	10982763, 11327531, 11528193, 12034770, 12379766, 14601088, 16697734, 16715141, 2306733, 25015107, 7635445, 9739760		★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	Pubtator	1911216	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Ductal Breast	Ductal carcinoma of breast	Pubtator	19153192	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Lobular	Lobular carcinoma	Pubtator	21228366	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of Male Breast	Breast Carcinoma, male	BEFREE	8394203		★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	12377812, 26240291, 36459568	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	10961689		★☆☆☆☆ Found in Text Mining only
Celiac Disease	Celiac disease	BEFREE	20453713		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Celiac Disease	Celiac disease	CTD_human_DG	30097691		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chediak-Higashi Syndrome	Chediak-Higashi Syndrome	BEFREE	23403622		★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	LHGDN	14563942		★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	Pubtator	14563942	Inhibit	★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	Pubtator	21472131	Stimulate	★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	BEFREE	22476540		★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	Pubtator	22476540	Associate	★☆☆☆☆ Found in Text Mining only
Cholestasis Intrahepatic	Intrahepatic cholestasis	Pubtator	24406866	Associate	★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	BEFREE	28355260, 29850501		★☆☆☆☆ Found in Text Mining only
Chronic sinusitis	Sinusitis	BEFREE	29456658		★☆☆☆☆ Found in Text Mining only
Colitis Ulcerative	Ulcerative colitis	Pubtator	16924127, 23691218	Associate	★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	31432157		★☆☆☆☆ Found in Text Mining only
Colonic Polyps	Colonic polyps	Pubtator	28430953	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	14756547, 24503794, 28104986, 31432157, 7505265		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	LHGDN	14756547		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	28104986	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	31432157	Stimulate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	BEFREE	7505265		★☆☆☆☆ Found in Text Mining only
Congenital contractural arachnodactyly	Congenital Contractural Arachnodactyly	BEFREE	21472131		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	30806752		★☆☆☆☆ Found in Text Mining only
Craniocerebral Trauma	Craniocerebral trauma	Pubtator	16718800	Inhibit	★☆☆☆☆ Found in Text Mining only
Craniosynostosis	Craniosynostosis	BEFREE	29456658		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	BEFREE	1985035, 23691218		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn disease	Pubtator	23691218	Associate	★☆☆☆☆ Found in Text Mining only
DEAFNESS, AUTOSOMAL RECESSIVE (disorder)	Deafness	BEFREE	11281453		★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	31817054		★☆☆☆☆ Found in Text Mining only
Depressive Disorder Major	Major depressive disorder	Pubtator	32093803	Associate	★☆☆☆☆ Found in Text Mining only
Diabetic Retinopathy	Diabetic retinopathy	Pubtator	31455213	Associate	★☆☆☆☆ Found in Text Mining only
Diarrhea 5 With Tufting Enteropathy Congenital	Congenital diarrhea	Pubtator	14563942	Associate	★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down Syndrome	BEFREE	11281453		★☆☆☆☆ Found in Text Mining only
Duodenal Ulcer	Duodenal ulcer	Pubtator	15849833	Stimulate	★☆☆☆☆ Found in Text Mining only
Duodenal Ulcer	Duodenal ulcer	Pubtator	7557569	Associate	★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	23530112	Associate	★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	28745797	Inhibit	★☆☆☆☆ Found in Text Mining only
Esophageal carcinoma	Esophageal Carcinoma	BEFREE	10190312		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophageal neoplasm	Pubtator	29296124	Inhibit	★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	21946330	Associate	★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	29296124	Inhibit	★☆☆☆☆ Found in Text Mining only
Familial Alzheimer Disease (FAD)	Alzheimer disease	BEFREE	10025714, 10218912, 10386952, 10891593, 11731004, 16923170, 7550356, 9189035		★☆☆☆☆ Found in Text Mining only
Familial lichen amyloidosis	Lichen amyloidosis	BEFREE	23266572		★☆☆☆☆ Found in Text Mining only
Familial multiple trichoepitheliomata	Multiple Trichoepithelioma	BEFREE	21829465		★☆☆☆☆ Found in Text Mining only
Fibrosis of pancreas	Fibrosis Of Pancreas	BEFREE	10369712		★☆☆☆☆ Found in Text Mining only
Gastric ulcer	Gastric ulcer	BEFREE	10921412, 16718800, 17143957		★☆☆☆☆ Found in Text Mining only
Gastritis	Gastritis	BEFREE	10921412		★☆☆☆☆ Found in Text Mining only
Gastritis	Gastritis	Pubtator	15849833	Stimulate	★☆☆☆☆ Found in Text Mining only
Gastritis Atrophic	Gastritis	Pubtator	16718800	Inhibit	★☆☆☆☆ Found in Text Mining only
Gastritis, Atrophic	Gastritis	BEFREE	16718800		★☆☆☆☆ Found in Text Mining only
Gastroesophageal reflux disease	Gastroesophageal Reflux Disease	BEFREE	30831146		★☆☆☆☆ Found in Text Mining only
Gastrointestinal Diseases	Gastrointestinal disease	Pubtator	12377807	Stimulate	★☆☆☆☆ Found in Text Mining only
Gastrointestinal Diseases	Gastrointestinal Diseases	BEFREE	16374579		★☆☆☆☆ Found in Text Mining only
Gastrointestinal Neoplasms	Gastrointestinal neoplasm	Pubtator	7531128	Associate	★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	Pubtator	16809382	Associate	★☆☆☆☆ Found in Text Mining only
Glycogen Storage Disease Type IV	Glycogen storage disease	Pubtator	35216615	Associate	★☆☆☆☆ Found in Text Mining only
Hermanski-Pudlak Syndrome	Hermansky-Pudlak Syndrome	BEFREE	10841946, 11452004, 12049721, 17053055, 19679886, 23215637, 23403622, 25333950, 27207797, 27345985, 28585318, 31820501		★☆☆☆☆ Found in Text Mining only
HERMANSKY-PUDLAK SYNDROME 2	Hermansky-Pudlak Syndrome	BEFREE	23215637, 23557002		★☆☆☆☆ Found in Text Mining only
HERMANSKY-PUDLAK SYNDROME 3	Hermansky-Pudlak Syndrome	BEFREE	12442288		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	LHGDN	15115253		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	31322753		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory bowel disease	Pubtator	31322753	Associate	★☆☆☆☆ Found in Text Mining only
Inflammatory Breast Carcinoma	Breast Cancer	BEFREE	2181374		★☆☆☆☆ Found in Text Mining only
Intestinal Diseases	Intestinal disease	Pubtator	10737716	Associate	★☆☆☆☆ Found in Text Mining only
Intraepithelial Neoplasia	Intraepithelial Neoplasia	BEFREE	29809170		★☆☆☆☆ Found in Text Mining only
Intrahepatic Cholangiocarcinoma	Intrahepatic Cholangiocarcinoma	BEFREE	14563942, 28608943		★☆☆☆☆ Found in Text Mining only
Invasive Ductal Breast Carcinoma	Invasive Duct and Lobular Carcinoma	BEFREE	19153192		★☆☆☆☆ Found in Text Mining only
Irritable Bowel Syndrome	Irritable bowel syndrome	Pubtator	24763552, 33843785	Associate	★☆☆☆☆ Found in Text Mining only
Leukopenia	Leukopenia	BEFREE	11809908, 19679886, 28585318, 29580292		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	12403846		★☆☆☆☆ Found in Text Mining only
Lung diseases	Lung Diseases	BEFREE	22009278, 29580292		★☆☆☆☆ Found in Text Mining only
Lung Diseases, Interstitial	Lung Diseases	BEFREE	22009278, 23753089		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	1911216, 22246423	Associate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	1850611	Stimulate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	26240479	Associate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	28745797	Inhibit	★☆☆☆☆ Found in Text Mining only
Lymphohistiocytosis, Hemophagocytic	Lymphohistiocytosis	BEFREE	23403622, 31820501		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	10727981, 11162921, 1350458, 14756547, 1505966, 15897566, 16452188, 1735955, 1763658, 1985035, 2180569, 2181374, 2185238, 2430688, 2450536, 24843314, 2498085, 2583860, 2824472, 28687783, 28743541, 2899054, 3041593, 30457555, 3321071, 3665845, 3822834, 6593703, 7505265, 7607504, 7880621, 8240704, 8265245, 9202892, 9306961, 9370944, 9472649, 9815611		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	10961689		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	21451135, 21747314, 30956167		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	16467092, 20112343, 29187400, 7635445, 9664907		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	12168114, 12210076, 12792801, 16049341, 16247479, 16697734, 16718800, 18722547, 21111741, 21870107, 22093877, 22642590, 22842654, 23329884, 25015107, 25652124, 26240479, 27598141, 28150071, 28281307, 29210057, 29453320, 30035371, 30612555, 31292446		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	10982763, 16820924, 17143957, 21111741, 21747314, 22842654, 23291975, 24190027, 24503794, 25405728, 25632947, 25732306, 26510686, 31432157, 9664907		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	31432157		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	10535357, 12477053, 21358676		★☆☆☆☆ Found in Text Mining only
Mandibuloacral dysplasia with type A lipodystrophy	Mandibuloacral dysplasia	Pubtator	18927283	Inhibit	★☆☆☆☆ Found in Text Mining only
Medullary carcinoma of thyroid	Megalencephaly, Polymicrogyria, Polydactyly, Hydrocephalus Syndrome	BEFREE	9664907		★☆☆☆☆ Found in Text Mining only
Mouth Diseases	Mouth disease	Pubtator	35749918	Associate	★☆☆☆☆ Found in Text Mining only
Mucinous Adenocarcinoma	Mucinous Adenocarcinoma	LHGDN	16142311		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	GWASDB_DG	21211798		★☆☆☆☆ Found in Text Mining only
Myoclonic Epilepsies, Progressive	Myoclonic epilepsy	BEFREE	1673790		★☆☆☆☆ Found in Text Mining only
Nasal Polyps	Nasal polyposis	BEFREE	24733740, 29456658		★☆☆☆☆ Found in Text Mining only
Necrotizing enterocolitis in fetus OR newborn	Necrotizing Enterocolitis	BEFREE	15578191		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	10982763, 11528193, 11577007, 12034770, 12379766, 14563942, 14601088, 14756547, 16452188, 16697734, 16715141, 1735955, 18722547, 21358676, 21451135, 21747314, 21870107, 21896084, 22842654, 22983508, 23291975, 23993973, 24190027, 24486742, 24503794, 24843314, 2498085, 25015107, 26372254, 26417932, 28481041, 28687783, 28760494, 28900479, 2899054, 29016460, 29210057, 29296124, 29809170, 31292446, 31382983, 31733149, 3321071, 7531128, 8240704, 8358738, 9664907		★☆☆☆☆ Found in Text Mining only
Nephrolithiasis	Nephrolithiasis	Pubtator	35987613	Associate	★☆☆☆☆ Found in Text Mining only
Neutropenia	Neutropenia	BEFREE	11809908, 19679886, 28585318, 29580292		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	29546532	Stimulate	★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	10961689, 8078298		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	1911216, 26617749	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	1735955, 21747314, 30956167		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pancreatic Ductal Adenocarcinoma	Pancreatic adenocarcinoma	BEFREE	21747314, 28760494, 29809170		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasm	Pancreatic Neoplasm	BEFREE	1735955		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	36812168	Stimulate	★☆☆☆☆ Found in Text Mining only
Pancreatitis, Chronic	Pancreatitis	BEFREE	10369712, 30956167		★☆☆☆☆ Found in Text Mining only
Partial Trisomy	Trisomy	BEFREE	3036686		★☆☆☆☆ Found in Text Mining only
Peptic Ulcer	Peptic ulcer disease	Pubtator	15849833	Associate	★☆☆☆☆ Found in Text Mining only
Peptic Ulcer	Peptic Ulcer	BEFREE	8492229		★☆☆☆☆ Found in Text Mining only
Platelet Storage Pool Deficiency	Platelet Storage Pool Deficiency	BEFREE	31820501		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	16467092, 20112343, 23266572, 29187400, 7635445, 9664907		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	15588310	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	22009278, 27529121		★☆☆☆☆ Found in Text Mining only
Pulmonary Fibrosis	Pulmonary fibrosis	Pubtator	33536261	Stimulate	★☆☆☆☆ Found in Text Mining only
Rectal Neoplasms	Rectal Neoplasms	BEFREE	14756547		★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	BEFREE	22983508, 25199519, 28481041, 29016460		★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	Pubtator	25199519	Associate	★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	31817054		★☆☆☆☆ Found in Text Mining only
Sjogren's Syndrome	Sjogren syndrome	Pubtator	9844061	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	28745797		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	21946330, 29296124		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	10737716, 12168114, 12210076, 12379766, 12792801, 16247479, 16697734, 16718800, 17143957, 18722547, 21111741, 21870107, 22093877, 22642590, 22842654, 23124995, 23329884, 24190027, 25015107, 25652124, 26240479, 27598141, 28150071, 28281307, 29210057, 29453320, 30035371, 30612555		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Stomach Diseases	Stomach disease	Pubtator	15849833, 16718800, 29997345	Associate	★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	10737716, 12379766, 14601088, 15849833, 16437709, 16474375, 17143957, 18593995, 18722547, 18938748, 22642590, 26240479, 27598141, 28150071, 30612555, 36514982	Associate	★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach Neoplasms	BEFREE	12034770, 16247479, 16697734, 23993973, 29453320, 30502323		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach Neoplasms	LHGDN	16474375, 16718800		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	16718800, 23329884, 24236136, 26617749	Inhibit	★☆☆☆☆ Found in Text Mining only
Thyroid Cancer Papillary	Papillary thyroid cancer	Pubtator	36917092	Associate	★☆☆☆☆ Found in Text Mining only
Transitional cell carcinoma of bladder	Bladder carcinoma	BEFREE	11528193		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	31986408	Inhibit	★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	36157217	Associate	★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	BEFREE	16924127		★☆☆☆☆ Found in Text Mining only
Undifferentiated carcinoma	Carcinoma	BEFREE	16820924		★☆☆☆☆ Found in Text Mining only
Unverricht-Lundborg Syndrome	Myoclonic Epilepsy	BEFREE	1641151		★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	1911216	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	1911216	Associate	★☆☆☆☆ Found in Text Mining only