NFATC1 (nuclear factor of activated T cells 1)

Gene

• Entrez ID: 4772
• Gene name: Nuclear factor of activated T cells 1
• Gene symbol: NFATC1
• Synonyms (NCBI Gene): NF-ATC, NF-ATc1.2, NFAT2, NFATc
• Chromosome: 18
• Chromosome location: 18q23
• Summary: The product of this gene is a component of the nuclear factor of activated T cells DNA-binding transcription complex. This complex consists of at least two components: a preexisting cytosolic component that translocates to the nucleus upon T cell receptor

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT002918	hsa-miR-124-3p	Microarray	18668037
MIRT052157	hsa-let-7b-5p	CLASH	23622248
MIRT002918	hsa-miR-124-3p	Luciferase reporter assay, qRT-PCR, Western blot	23853098
MIRT002918	hsa-miR-124-3p	Luciferase reporter assay, qRT-PCR, Western blot	23853098
MIRT002918	hsa-miR-124-3p	Luciferase reporter assay, qRT-PCR, Western blot	23853098
MIRT002918	hsa-miR-124-3p	Luciferase reporter assay, qRT-PCR, Western blot	23853098
MIRT438543	hsa-miR-145-5p	Luciferase reporter assay	24043548
MIRT438543	hsa-miR-145-5p	Luciferase reporter assay	24043548
MIRT639069	hsa-miR-6832-3p	HITS-CLIP	23824327
MIRT639068	hsa-miR-4671-5p	HITS-CLIP	23824327
MIRT639067	hsa-miR-3124-3p	HITS-CLIP	23824327
MIRT639066	hsa-miR-324-5p	HITS-CLIP	23824327
MIRT639065	hsa-miR-623	HITS-CLIP	23824327
MIRT639064	hsa-miR-204-5p	HITS-CLIP	23824327
MIRT639063	hsa-miR-211-5p	HITS-CLIP	23824327
MIRT639061	hsa-miR-4755-5p	HITS-CLIP	23824327
MIRT639062	hsa-miR-5006-3p	HITS-CLIP	23824327
MIRT731824	hsa-miR-143-3p	Luciferase reporter assay, qRT-PCR, Western blot	27639060
MIRT731824	hsa-miR-143-3p	Luciferase reporter assay, qRT-PCR, Western blot	27639060
MIRT639069	hsa-miR-6832-3p	HITS-CLIP	23824327
MIRT639068	hsa-miR-4671-5p	HITS-CLIP	23824327
MIRT639067	hsa-miR-3124-3p	HITS-CLIP	23824327
MIRT639066	hsa-miR-324-5p	HITS-CLIP	23824327
MIRT639065	hsa-miR-623	HITS-CLIP	23824327
MIRT639064	hsa-miR-204-5p	HITS-CLIP	23824327
MIRT639063	hsa-miR-211-5p	HITS-CLIP	23824327
MIRT639061	hsa-miR-4755-5p	HITS-CLIP	23824327
MIRT639062	hsa-miR-5006-3p	HITS-CLIP	23824327
MIRT1182128	hsa-miR-1231	CLIP-seq
MIRT1182129	hsa-miR-1305	CLIP-seq
MIRT1182130	hsa-miR-346	CLIP-seq
MIRT1182131	hsa-miR-34b	CLIP-seq
MIRT1182132	hsa-miR-3913-3p	CLIP-seq
MIRT1182133	hsa-miR-4263	CLIP-seq
MIRT1182134	hsa-miR-4288	CLIP-seq
MIRT1182135	hsa-miR-4310	CLIP-seq
MIRT1182136	hsa-miR-4699-3p	CLIP-seq
MIRT1182137	hsa-miR-4705	CLIP-seq
MIRT1182138	hsa-miR-576-5p	CLIP-seq
MIRT1182139	hsa-miR-632	CLIP-seq
MIRT1182140	hsa-miR-642b	CLIP-seq
MIRT1182141	hsa-miR-1260	CLIP-seq
MIRT1182142	hsa-miR-1260b	CLIP-seq
MIRT1182143	hsa-miR-188-3p	CLIP-seq
MIRT1182144	hsa-miR-3156-3p	CLIP-seq
MIRT1182145	hsa-miR-662	CLIP-seq
MIRT2052812	hsa-miR-1203	CLIP-seq
MIRT2052813	hsa-miR-1256	CLIP-seq
MIRT2052814	hsa-miR-1270	CLIP-seq
MIRT1182129	hsa-miR-1305	CLIP-seq
MIRT2052815	hsa-miR-1343	CLIP-seq
MIRT2052816	hsa-miR-223	CLIP-seq
MIRT2052817	hsa-miR-3660	CLIP-seq
MIRT2052818	hsa-miR-3665	CLIP-seq
MIRT2052819	hsa-miR-3689d	CLIP-seq
MIRT1182132	hsa-miR-3913-3p	CLIP-seq
MIRT2052820	hsa-miR-409-3p	CLIP-seq
MIRT2052821	hsa-miR-4290	CLIP-seq
MIRT2052822	hsa-miR-4443	CLIP-seq
MIRT2052823	hsa-miR-4526	CLIP-seq
MIRT2052824	hsa-miR-4531	CLIP-seq
MIRT2052825	hsa-miR-4645-3p	CLIP-seq
MIRT2052826	hsa-miR-4667-3p	CLIP-seq
MIRT2052827	hsa-miR-4687-5p	CLIP-seq
MIRT2052828	hsa-miR-4704-3p	CLIP-seq
MIRT2052829	hsa-miR-4720-5p	CLIP-seq
MIRT2052830	hsa-miR-4765	CLIP-seq
MIRT2052831	hsa-miR-4781-3p	CLIP-seq
MIRT2052832	hsa-miR-4799-3p	CLIP-seq
MIRT2052833	hsa-miR-620	CLIP-seq
MIRT2052834	hsa-miR-628-5p	CLIP-seq
MIRT1182140	hsa-miR-642b	CLIP-seq
MIRT2052835	hsa-miR-671-5p	CLIP-seq
MIRT1182128	hsa-miR-1231	CLIP-seq
MIRT2282031	hsa-miR-124	CLIP-seq
MIRT2052814	hsa-miR-1270	CLIP-seq
MIRT1182130	hsa-miR-346	CLIP-seq
MIRT2282032	hsa-miR-3545-3p	CLIP-seq
MIRT2282033	hsa-miR-3714	CLIP-seq
MIRT2282034	hsa-miR-3910	CLIP-seq
MIRT2052820	hsa-miR-409-3p	CLIP-seq
MIRT1182134	hsa-miR-4288	CLIP-seq
MIRT1182135	hsa-miR-4310	CLIP-seq
MIRT2052824	hsa-miR-4531	CLIP-seq
MIRT2282035	hsa-miR-4539	CLIP-seq
MIRT2282036	hsa-miR-4652-3p	CLIP-seq
MIRT2282037	hsa-miR-4712-5p	CLIP-seq
MIRT2052831	hsa-miR-4781-3p	CLIP-seq
MIRT2282038	hsa-miR-506	CLIP-seq
MIRT2282039	hsa-miR-617	CLIP-seq
MIRT2052833	hsa-miR-620	CLIP-seq
MIRT1182139	hsa-miR-632	CLIP-seq
MIRT2282040	hsa-miR-770-5p	CLIP-seq
MIRT2455090	hsa-miR-3200-5p	CLIP-seq
MIRT2455091	hsa-miR-4682	CLIP-seq
MIRT2455092	hsa-miR-496	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
LMO2	Activation	22517897

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000785	Component	Chromatin	IDA	15304486
GO:0000785	Component	Chromatin	ISA
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	ISS
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	ISS
GO:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	ISS
GO:0003180	Process	Aortic valve morphogenesis	ISS
GO:0003184	Process	Pulmonary valve morphogenesis	ISS
GO:0003677	Function	DNA binding	IEA
GO:0003700	Function	DNA-binding transcription factor activity	IEA
GO:0003700	Function	DNA-binding transcription factor activity	TAS	9506523, 10821850
GO:0005515	Function	Protein binding	IPI	17882263, 18218901, 21880741, 23468591, 24954618, 25609649
GO:0005528	Function	FK506 binding	TAS	8702849
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	12370307
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005667	Component	Transcription regulator complex	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	ISS
GO:0005737	Component	Cytoplasm	TAS	8202141
GO:0005829	Component	Cytosol	TAS
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0016604	Component	Nuclear body	IDA
GO:0030178	Process	Negative regulation of Wnt signaling pathway	ISS
GO:0030346	Function	Protein phosphatase 2B binding	EXP	10860980
GO:0030346	Function	Protein phosphatase 2B binding	IPI	10860980
GO:0033173	Process	Calcineurin-NFAT signaling cascade	IBA
GO:0033173	Process	Calcineurin-NFAT signaling cascade	IDA	14979875
GO:0035556	Process	Intracellular signal transduction	IDA	14749367
GO:0045893	Process	Positive regulation of DNA-templated transcription	IDA	14749367
GO:0045893	Process	Positive regulation of DNA-templated transcription	IDA	14979875
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IBA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	14979875
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IGI	14979875
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	ISS
GO:0048273	Function	Mitogen-activated protein kinase p38 binding	ISS
GO:0061629	Function	RNA polymerase II-specific DNA-binding transcription factor binding	ISS
GO:1905064	Process	Negative regulation of vascular associated smooth muscle cell differentiation	IDA	23853098
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IDA	28473536

Other IDs

• MIM: 600489
• HGNC: 7775
• e!Ensembl: ENSG00000131196

Protein

• UniProt ID: O95644
• Protein name: Nuclear factor of activated T-cells, cytoplasmic 1 (NF-ATc1) (NFATc1) (NFAT transcription complex cytosolic component) (NF-ATc) (NFATc)
• Protein function: Plays a role in the inducible expression of cytokine genes in T-cells, especially in the induction of the IL-2 or IL-4 gene transcription. Also controls gene expression in embryonic cardiac cells. Could regulate not only the activation and proli
• PDB: 1A66, 1NFA, 5SVE
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00554	RHD_DNA_bind	428 → 588	Rel homology DNA-binding domain	Domain
  PF16179	RHD_dimer	597 → 697	Rel homology dimerisation domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed in thymus, peripheral leukocytes as T-cells and spleen. Isoforms A are preferentially expressed in effector T-cells (thymus and peripheral leukocytes) whereas isoforms B and isoforms C are preferentially expressed in naive T-
• Sequence:

  MPSTSFPVPSKFPLGPAAAVFGRGETLGPAPRAGGTMKSAEEEHYGYASSNVSPALPLPT
  AHSTLPAPCHNLQTSTPGIIPPADHPSGYGAALDGGPAGYFLSSGHTRPDGAPALESPRI
  EITSCLGLYHNNNQFFHDVEVEDVLPSSKRSPSTATLSLPSLEAYRDPSCLSPASSLSSR
  SCNSEASSYESNYSYPYASPQTSPWQSPCVSPKTTDPEEGFPRGLGACTLLGSPRHSPST
  SPRASVTEESWLGARSSRPASPCNKRKYSLNGRQPPYSPHHSPTPSPHGSPRVSVTDDSW
  LGNTTQYTSSAIVAAINALTTDSSLDLGDGVPVKSRKTTLEQPPSVALKVEPVGEDLGSP
  PPPADFAPEDYSSFQHIRKGGFCDQYLAVPQHPYQWAKPKPLSPTSYMSPTLPALDWQLP
  SHSGPYELRIEVQPKSHHRAHYETEGSRGAVKASAGGHPIVQLHGYLENEPLMLQLFIGT
  ADDRLLRPHAFYQVHRITGKTVSTTSHEAILSNTKVLEIPLLPENSMRAVIDCAGILKLR
  NSDIELRKGETDIGRKNTRVRLVFRVHVPQPSGRTLSLQVASNPIECSQRSAQELPLVEK
  QSTDSYPVVGGKKMVLSGHNFLQDSKVIFVEKAPDGHHVWEMEAKTDRDLCKPNSLVVEI
  PPFRNQRITSPVHVSFYVCNGKRKRSQYQRFTYLPANVPIIKTEPTDDYEPAPTCGPVSQ
  GLSPLPRPYYSQQLAMPPDPSSCLVAGFPPCPQRSTLMPAAPGVSPKLHDLSPAAYTKGV
  ASPGHCHLGLPQPAGEAPAVQDVPRPVATHPGSPGQPPPALLPQQVSAPPSSSCPPGLEH
  SLCPSSPSPPLPPATQEPTCLQPCSPACPPATGRPQHLPSTVRRDESPTAGPRLLPEVHE
  DGSPNLAPIPVTVKREPEELDQLYLDDVNEIIRNDLSSTSTHS

• Sequence length: 943

Associated diseases

Evidence Score:

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

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Adrenocortical carcinoma, hereditary	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANKYLOSING SPONDYLITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BENIGN NEOPLASM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BONE FRACTURE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC KIDNEY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL HEART DEFECTS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL HEART DISEASE	—	ClinGen, Disgenet ClinGen, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CROHN'S DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERURICEMIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPOTHYROIDISM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INFLAMMATORY BOWEL DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KIDNEY FAILURE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG ADENOCARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NFATC1-related disorder	Benign; Likely benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS, HIP	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS, KNEE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSORIASIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RHEUMATOID ARTHRITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCLEROSING CHOLANGITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SQUAMOUS CELL CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ULCERATIVE COLITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UPPER AERODIGESTIVE TRACT NEOPLASM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VENTRICULAR SEPTAL DEFECTS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acute monocytic leukemia	Monocytic Leukemia	BEFREE	25976987, 31286998		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of prostate	Prostate adenocarcinoma	BEFREE	26477312		★☆☆☆☆ Found in Text Mining only
Adult Diffuse Large B-Cell Lymphoma	B-cell Lymphoma	BEFREE	30209121		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic lateral sclerosis	Pubtator	32732921	Associate	★☆☆☆☆ Found in Text Mining only
Anaplastic thyroid carcinoma	Anaplastic thyroid cancer	BEFREE	9515963		★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	BEFREE	29515759		★☆☆☆☆ Found in Text Mining only
Ankylosing spondylitis	Ankylosing Spondylitis	GWASCAT_DG	26974007		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ankylosing spondylitis	Ankylosing Spondylitis	BEFREE	28191455		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANOPHTHALMIA AND PULMONARY HYPOPLASIA	Syndromic microphthalmia	BEFREE	25586376, 31171768		★☆☆☆☆ Found in Text Mining only
Arteritis	Arteritis	Pubtator	35003111	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	BEFREE	17892600, 25596157, 29246953		★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	22385242, 27572279, 30802366, 35896699, 36513810	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	33952303	Stimulate	★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	31406566		★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	Pubtator	33079489	Associate	★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	Pubtator	40650018	Inhibit	★☆☆☆☆ Found in Text Mining only
Ataxia Telangiectasia	Ataxia Telangiectasia	BEFREE	9515963		★☆☆☆☆ Found in Text Mining only
Atrioventricular Septal Defect	Atrioventricular septal defect	BEFREE	30007050		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	17039563		★☆☆☆☆ Found in Text Mining only
Axenfeld-Rieger syndrome	Axenfeld anomaly	BEFREE	30514661		★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	31686349		★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	25638160		★☆☆☆☆ Found in Text Mining only
Bone Diseases	Bone disease	Pubtator	30802366	Associate	★☆☆☆☆ Found in Text Mining only
Bone Neoplasms	Bone neoplasm	Pubtator	34310785	Associate	★☆☆☆☆ Found in Text Mining only
Bone Resorption	Bone resorption	Pubtator	21360521, 35896699	Associate	★☆☆☆☆ Found in Text Mining only
Bone Resorption	Bone resorption	Pubtator	30832685	Stimulate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	28463564		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	30803933, 36137995	Associate	★☆☆☆☆ Found in Text Mining only
Burkitt Lymphoma	Burkitt lymphoma	Pubtator	15667535, 35472072	Associate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	30085405	Inhibit	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	16874304, 25631176, 25638160		★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	30085405	Inhibit	★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	25638160		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	26493727, 29691251, 31362013		★☆☆☆☆ Found in Text Mining only
Carcinoma Ovarian Epithelial	Epithelial ovarian carcinoma	Pubtator	28637314	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	34257525	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	26501422, 26820075, 27350254		★☆☆☆☆ Found in Text Mining only
Cardiac defects	Cardiac Defects	BEFREE	21499900		★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Hypertrophic	Hypertrophic cardiomyopathy	Pubtator	32531470	Associate	★☆☆☆☆ Found in Text Mining only
Celiac Disease	Celiac disease	Pubtator	37222325	Associate	★☆☆☆☆ Found in Text Mining only
Central Core Myopathy (disorder)	Myopathy	BEFREE	21088110		★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	29129565		★☆☆☆☆ Found in Text Mining only
Cervix carcinoma	Cervix carcinoma	BEFREE	29129565		★☆☆☆☆ Found in Text Mining only
Cherubism	Cherubism	BEFREE	20002873, 24916406, 27498064		★☆☆☆☆ Found in Text Mining only
Cholangitis, Sclerosing	Cholangitis	GWASCAT_DG	26974007		★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	BEFREE	27588450		★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	22534504, 22613791, 28921505, 28970470, 30556925, 30582586		★☆☆☆☆ Found in Text Mining only
Colitis Ulcerative	Ulcerative colitis	Pubtator	18350607	Associate	★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	15632146, 25320007		★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	15632146	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	27440078		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	31183372, 33113363, 33795653, 38092774	Associate	★☆☆☆☆ Found in Text Mining only
Congenital Heart Defects	Congenital heart defects	BEFREE	22032245, 24526256		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital heart disease	Congenital Heart Disease	BEFREE	17110989, 28829497		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Conotruncal cardiac defects	Conotruncal cardiac defect	Pubtator	37406974	Associate	★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	31022353		★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	17110989, 23286482, 24115576		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	GWASCAT_DG	26192919, 26974007		★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	29799160		★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	GWASCAT_DG	31451708		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	GWASCAT_DG	31451708		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	26814423		★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathies	Diabetic neuropathy	Pubtator	32550905	Associate	★☆☆☆☆ Found in Text Mining only
Diffuse Large B-Cell Lymphoma	Diffuse Lymphoma	BEFREE	20664054, 30209121		★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down Syndrome	BEFREE	14738882, 16554754, 17933568		★☆☆☆☆ Found in Text Mining only
Enteritis	Enteritis	BEFREE	30364052		★☆☆☆☆ Found in Text Mining only
Epithelial ovarian cancer	Ovarian cancer	BEFREE	27350254		★☆☆☆☆ Found in Text Mining only
Fibrosis, Liver	Liver Fibrosis	BEFREE	30871618		★☆☆☆☆ Found in Text Mining only
Giant Cell Arteritis	Giant cell arteritis	Pubtator	35003111	Stimulate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	25738651, 31400279		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	34309232	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	25738651, 31400279		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	25738651, 31249342		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	29258522	Associate	★☆☆☆☆ Found in Text Mining only
Graft vs Host Disease	Graft-versus-host disease	Pubtator	10556195	Associate	★☆☆☆☆ Found in Text Mining only
Head and Neck Carcinoma	Head And Neck Carcinoma	BEFREE	30378503		★☆☆☆☆ Found in Text Mining only
Heart Defects Congenital	Congenital heart defect	Pubtator	28829497	Associate	★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart Diseases	LHGDN	17110989		★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	32550905	Associate	★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart Diseases	BEFREE	9515963		★☆☆☆☆ Found in Text Mining only
Heart Septal Defects Ventricular	Congenital heart septal defect	Pubtator	23226213, 35870951, 36759823	Associate	★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin Disease	BEFREE	18156209		★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin disease	Pubtator	34181355	Inhibit	★☆☆☆☆ Found in Text Mining only
Hyperuricemia	Hyperuricemia	GWASCAT_DG	29124443		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypotension	Hypotension	Pubtator	30832685	Associate	★☆☆☆☆ Found in Text Mining only
Hypothyroidism	Hypothyroidism	GWASCAT_DG	30595370		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Idiopathic hypogonadotropic hypogonadism	Hypogonadotropic Hypogonadism	BEFREE	31610747		★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Idiopathic pulmonary fibrosis	Pubtator	27218286	Associate	★☆☆☆☆ Found in Text Mining only
Immunoglobulin A deficiency (disorder)	Immunoglobulin A deficiency	BEFREE	10453734		★☆☆☆☆ Found in Text Mining only
Infertility Male	Male infertility	Pubtator	31103287	Associate	★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	GWASCAT_DG	26192919		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	29763384		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory bowel disease	Pubtator	32535589, 36680554	Associate	★☆☆☆☆ Found in Text Mining only
Keratocystic Odontogenic Tumor	Keratocystic Odontogenic Tumor	BEFREE	24581331		★☆☆☆☆ Found in Text Mining only
Ki-1+ Anaplastic Large Cell Lymphoma	Anaplastic Lymphoma	BEFREE	18156209		★☆☆☆☆ Found in Text Mining only
Kidney Failure, Chronic	Kidney Failure	GWASCAT_DG	29124443, 31152163		★☆☆☆☆ Found in Text Mining only
Kidney Neoplasm	Kidney Neoplasm	BEFREE	31022353		★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	11698483	Inhibit	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	25976987, 31286998		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	22722879, 30085405		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver Cirrhosis	BEFREE	30085405		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver cirrhosis	Pubtator	30085405	Inhibit	★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver cirrhosis	Pubtator	30871618	Associate	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	BEFREE	26493727, 29691251		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	20506525	Stimulate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	31412880, 37072752	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Nephritis	Lupus Nephritis	BEFREE	29953444		★☆☆☆☆ Found in Text Mining only
Lupus Nephritis	Lupus nephritis	Pubtator	29953444	Associate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	30085405	Inhibit	★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	Pubtator	15667535, 16099873, 20664054	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	18156209, 20664054		★☆☆☆☆ Found in Text Mining only
Lymphoma, T-Cell, Cutaneous	Lymphoma	BEFREE	27097342		★☆☆☆☆ Found in Text Mining only
Lymphopenia	Lymphopenia	BEFREE	29907883		★☆☆☆☆ Found in Text Mining only
Majeed syndrome	Majeed syndrome	Pubtator	33314777	Associate	★☆☆☆☆ Found in Text Mining only
Malignant Head and Neck Neoplasm	Head and neck cancer	BEFREE	30378503		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	28463564		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	26493727, 29691251, 31362013		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	26501422, 27350254		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	16874304, 24284479, 25586376, 25623042		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	25631176, 26477312, 30817743, 31730483		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	25638160		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	23811942, 24284479, 25738651, 26501422, 27350254, 29691251, 31730483		★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	29129565		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	25320007		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	LHGDN	16880514		★☆☆☆☆ Found in Text Mining only
Meckel syndrome type 1	Meckel Syndrome	BEFREE	31400279		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	25142972		★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic Diseases	BEFREE	27185256		★☆☆☆☆ Found in Text Mining only
Mucocutaneous Lymph Node Syndrome	Kawasaki disease	BEFREE	30723312		★☆☆☆☆ Found in Text Mining only
Mucocutaneous Lymph Node Syndrome	Kawasaki disease	Pubtator	32170198	Stimulate	★☆☆☆☆ Found in Text Mining only
Mucocutaneous Lymph Node Syndrome	Kawasaki disease	Pubtator	32183825	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	36251145	Associate	★☆☆☆☆ Found in Text Mining only
Myopathy Central Core	Central core myopathy	Pubtator	21088110	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	18156209, 23480895, 23624921, 23811942, 25631176, 25638160, 26820075, 28327458, 30085405, 30578079, 31171768, 31400279		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	29691251, 31823518		★☆☆☆☆ Found in Text Mining only
Obesity, Morbid	Obesity	BEFREE	31322077		★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic Atrophy	BEFREE	31087207		★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	26713865	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteomyelitis	Osteomyelitis	BEFREE	30832685		★☆☆☆☆ Found in Text Mining only
Osteonecrosis	Osteonecrosis	Pubtator	25820558	Stimulate	★☆☆☆☆ Found in Text Mining only
Osteopenia	Osteopenia	BEFREE	22125315, 24916406, 28315458, 28575726, 30615802, 30854667, 30934850, 31399090, 31479775, 31500404		★☆☆☆☆ Found in Text Mining only
Osteopetrosis	Osteopetrosis	BEFREE	28339032		★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	BEFREE	28315458, 28478803, 30030965, 30132869, 30204862, 30387123, 31367247, 31596733, 31612613		★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	Pubtator	36148414	Associate	★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	23624921, 26501422, 27350254		★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	16874304, 24284479, 25586376, 25623042		★☆☆☆☆ Found in Text Mining only
Pancreatic Ductal Adenocarcinoma	Pancreatic adenocarcinoma	BEFREE	28188746		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasm	Pancreatic Neoplasm	LHGDN	16874304		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	16874304	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatitis, Chronic	Pancreatitis	BEFREE	25623042		★☆☆☆☆ Found in Text Mining only
Patent ductus arteriosus	Patent ductus arteriosus	BEFREE	22032245		★☆☆☆☆ Found in Text Mining only
Perimembranous ventricular septal defect	Ventricular septal defect	BEFREE	21499900		★☆☆☆☆ Found in Text Mining only
Periodontal Diseases	Periodontal Diseases	BEFREE	21284733		★☆☆☆☆ Found in Text Mining only
Periodontitis	Periodontitis	BEFREE	21284733, 29460020		★☆☆☆☆ Found in Text Mining only
Periodontitis	Periodontitis	Pubtator	21284733	Stimulate	★☆☆☆☆ Found in Text Mining only
Poikiloderma with Neutropenia	Poikiloderma With Neutropenia	BEFREE	28327458		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	25631176, 26477312, 30817743, 31730483		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	30817743	Stimulate	★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	31730483	Associate	★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	BEFREE	21678407, 24863062		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Psoriasis	Psoriasis	GWASCAT_DG	26974007		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Reducing-body myopathy	Reducing body myopathy	BEFREE	19075112		★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	31022353		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	LHGDN	16586042		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	22385242, 23146195, 30802366, 31086948		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Sarcoma	BEFREE	25631176		★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	Pubtator	38189436	Associate	★☆☆☆☆ Found in Text Mining only
Situs ambiguus	Situs ambiguus	BEFREE	30007050		★☆☆☆☆ Found in Text Mining only
Sjogren's Syndrome	Sjogren syndrome	Pubtator	34261974	Associate	★☆☆☆☆ Found in Text Mining only
Skin Erosion	Skin Erosion	BEFREE	24703325, 29401630		★☆☆☆☆ Found in Text Mining only
T-Cell Lymphoma	T-Cell Lymphoma	BEFREE	27097342		★☆☆☆☆ Found in Text Mining only
Tricuspid Atresia	Tricuspid Atresia	BEFREE	23226213		★☆☆☆☆ Found in Text Mining only
Tricuspid Atresia	Tricuspid atresia	Pubtator	23226213	Associate	★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	LHGDN	18350607		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ulcerative Colitis	Ulcerative colitis	GWASCAT_DG	26974007		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	32420368, 33962392, 35958586	Associate	★☆☆☆☆ Found in Text Mining only
Urothelial Carcinoma	Urothelial Carcinoma	BEFREE	28327458		★☆☆☆☆ Found in Text Mining only
Van der Woude syndrome	Van Der Woude Syndrome	BEFREE	28545453		★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular disease	Pubtator	34310785	Associate	★☆☆☆☆ Found in Text Mining only
Ventricular arrhythmia	Ventricular arrhythmia	BEFREE	19255346		★☆☆☆☆ Found in Text Mining only
Ventricular Septal Defects	Ventricular septal defect	BEFREE	17110989, 22032245, 23226213, 23286482		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Wiskott-Aldrich Syndrome	Wiskott-Aldrich Syndrome	BEFREE	17082665		★☆☆☆☆ Found in Text Mining only