NFATC2 (nuclear factor of activated T cells 2)

Gene

• Entrez ID: 4773
• Gene name: Nuclear factor of activated T cells 2
• Gene symbol: NFATC2
• Synonyms (NCBI Gene): JCOSL, NFAT1, NFATP
• Chromosome: 20
• Chromosome location: 20q13.2
• Summary: This gene is a member of the nuclear factor of activated T cells (NFAT) family. The product of this gene is a DNA-binding protein with a REL-homology region (RHR) and an NFAT-homology region (NHR). This protein is present in the cytosol and only transloca

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT005078	hsa-miR-184	Luciferase reporter assay, qRT-PCR, Western blot	19286996
MIRT623116	hsa-miR-8485	HITS-CLIP	23824327
MIRT640856	hsa-miR-603	HITS-CLIP	23824327
MIRT623115	hsa-miR-4700-3p	HITS-CLIP	23824327
MIRT623114	hsa-miR-6504-3p	HITS-CLIP	23824327
MIRT640855	hsa-miR-4459	HITS-CLIP	23824327
MIRT623113	hsa-miR-496	HITS-CLIP	23824327
MIRT623112	hsa-miR-3941	HITS-CLIP	23824327
MIRT623111	hsa-miR-4672	HITS-CLIP	23824327
MIRT623110	hsa-miR-466	HITS-CLIP	23824327
MIRT623116	hsa-miR-8485	HITS-CLIP	23824327
MIRT623115	hsa-miR-4700-3p	HITS-CLIP	23824327
MIRT623114	hsa-miR-6504-3p	HITS-CLIP	23824327
MIRT623113	hsa-miR-496	HITS-CLIP	23824327
MIRT623112	hsa-miR-3941	HITS-CLIP	23824327
MIRT623111	hsa-miR-4672	HITS-CLIP	23824327
MIRT623110	hsa-miR-466	HITS-CLIP	23824327
MIRT616545	hsa-miR-10a-3p	HITS-CLIP	23824327
MIRT616544	hsa-miR-1183	HITS-CLIP	23824327
MIRT616543	hsa-miR-6760-3p	HITS-CLIP	23824327
MIRT616542	hsa-miR-1208	HITS-CLIP	23824327
MIRT616541	hsa-miR-1304-3p	HITS-CLIP	23824327
MIRT616540	hsa-miR-20b-3p	HITS-CLIP	23824327
MIRT616539	hsa-miR-3157-5p	HITS-CLIP	23824327
MIRT616538	hsa-miR-4512	HITS-CLIP	23824327
MIRT445809	hsa-miR-5571-5p	PAR-CLIP	22100165
MIRT445808	hsa-miR-451b	PAR-CLIP	22100165
MIRT445807	hsa-miR-4310	PAR-CLIP	22100165
MIRT445806	hsa-miR-7157-5p	PAR-CLIP	22100165
MIRT445805	hsa-miR-526b-5p	PAR-CLIP	22100165
MIRT616545	hsa-miR-10a-3p	HITS-CLIP	27418678
MIRT616542	hsa-miR-1208	HITS-CLIP	27418678
MIRT616541	hsa-miR-1304-3p	HITS-CLIP	27418678
MIRT616539	hsa-miR-3157-5p	HITS-CLIP	27418678
MIRT616538	hsa-miR-4512	HITS-CLIP	27418678
MIRT616543	hsa-miR-6760-3p	HITS-CLIP	27418678
MIRT733508	hsa-miR-1270	qRT-PCR	34150008
MIRT623116	hsa-miR-8485	HITS-CLIP	23824327
MIRT640856	hsa-miR-603	HITS-CLIP	23824327
MIRT623115	hsa-miR-4700-3p	HITS-CLIP	23824327
MIRT623114	hsa-miR-6504-3p	HITS-CLIP	23824327
MIRT640855	hsa-miR-4459	HITS-CLIP	23824327
MIRT623113	hsa-miR-496	HITS-CLIP	23824327
MIRT623112	hsa-miR-3941	HITS-CLIP	23824327
MIRT623111	hsa-miR-4672	HITS-CLIP	23824327
MIRT623110	hsa-miR-466	HITS-CLIP	23824327
MIRT623116	hsa-miR-8485	HITS-CLIP	23824327
MIRT623115	hsa-miR-4700-3p	HITS-CLIP	23824327
MIRT623114	hsa-miR-6504-3p	HITS-CLIP	23824327
MIRT623113	hsa-miR-496	HITS-CLIP	23824327
MIRT623112	hsa-miR-3941	HITS-CLIP	23824327
MIRT623111	hsa-miR-4672	HITS-CLIP	23824327
MIRT623110	hsa-miR-466	HITS-CLIP	23824327
MIRT616545	hsa-miR-10a-3p	HITS-CLIP	23824327
MIRT616544	hsa-miR-1183	HITS-CLIP	23824327
MIRT616543	hsa-miR-6760-3p	HITS-CLIP	23824327
MIRT616542	hsa-miR-1208	HITS-CLIP	23824327
MIRT616541	hsa-miR-1304-3p	HITS-CLIP	23824327
MIRT616540	hsa-miR-20b-3p	HITS-CLIP	23824327
MIRT616539	hsa-miR-3157-5p	HITS-CLIP	23824327
MIRT616538	hsa-miR-4512	HITS-CLIP	23824327
MIRT445809	hsa-miR-5571-5p	PAR-CLIP	22100165
MIRT445808	hsa-miR-451b	PAR-CLIP	22100165
MIRT445807	hsa-miR-4310	PAR-CLIP	22100165
MIRT445806	hsa-miR-7157-5p	PAR-CLIP	22100165
MIRT445805	hsa-miR-526b-5p	PAR-CLIP	22100165
MIRT1182146	hsa-miR-3184	CLIP-seq
MIRT1182147	hsa-miR-423-5p	CLIP-seq
MIRT1182148	hsa-miR-431	CLIP-seq
MIRT1182149	hsa-miR-4675	CLIP-seq
MIRT1182150	hsa-miR-4710	CLIP-seq
MIRT1182151	hsa-miR-4711-3p	CLIP-seq
MIRT1182152	hsa-miR-4721	CLIP-seq
MIRT1182153	hsa-miR-4741	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IEA
GO:0000785	Component	Chromatin	IEA
GO:0000785	Component	Chromatin	ISA
GO:0000976	Function	Transcription cis-regulatory region binding	IEA
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	IEA
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	IEA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA
GO:0001227	Function	DNA-binding transcription repressor activity, RNA polymerase II-specific	IEA
GO:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	IEA
GO:0003677	Function	DNA binding	IEA
GO:0003677	Function	DNA binding	TAS	8668213
GO:0003682	Function	Chromatin binding	IEA
GO:0003700	Function	DNA-binding transcription factor activity	IEA
GO:0003700	Function	DNA-binding transcription factor activity	TAS	8668213
GO:0005515	Function	Protein binding	IPI	16873067, 17377532, 18218901, 19505873, 20557936, 21458306, 21983832, 23105117, 24561192, 24954618, 25609649
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	12370307, 12656674
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	TAS	8668213
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005667	Component	Transcription regulator complex	IBA
GO:0005667	Component	Transcription regulator complex	IEA
GO:0005737	Component	Cytoplasm	IDA	12656674
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	TAS	8668213
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006355	Process	Regulation of DNA-templated transcription	TAS	8668213
GO:0006357	Process	Regulation of transcription by RNA polymerase II	NAS	9510247
GO:0006366	Process	Transcription by RNA polymerase II	IEA
GO:0006974	Process	DNA damage response	IMP	17875758
GO:0009410	Process	Response to xenobiotic stimulus	IMP	17875758
GO:0010467	Process	Gene expression	IEA
GO:0010628	Process	Positive regulation of gene expression	IEA
GO:0014904	Process	Myotube cell development	IEA
GO:0016477	Process	Cell migration	IDA	21871017
GO:0019902	Function	Phosphatase binding	IPI	26248042
GO:0030890	Process	Positive regulation of B cell proliferation	IMP	17875758
GO:0033173	Process	Calcineurin-NFAT signaling cascade	IBA
GO:0033173	Process	Calcineurin-NFAT signaling cascade	IEA
GO:0035976	Component	Transcription factor AP-1 complex	IPI	9510247
GO:0043565	Function	Sequence-specific DNA binding	IEA
GO:0045893	Process	Positive regulation of DNA-templated transcription	IDA	15790681
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IBA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0050853	Process	B cell receptor signaling pathway	IMP	17875758
GO:0051216	Process	Cartilage development	IEA
GO:0051216	Process	Cartilage development	IMP	35789258
GO:0060090	Function	Molecular adaptor activity	EXP	29432148
GO:0071277	Process	Cellular response to calcium ion	IEA
GO:0071889	Function	14-3-3 protein binding	EXP	29432148
GO:0140742	Process	LncRNA transcription	IEA
GO:1901741	Process	Positive regulation of myoblast fusion	IEA
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
GO:1990904	Component	Ribonucleoprotein complex	IEA

Other IDs

• MIM: 600490
• HGNC: 7776
• e!Ensembl: ENSG00000101096

Protein

• UniProt ID: Q13469
• Protein name: Nuclear factor of activated T-cells, cytoplasmic 2 (NF-ATc2) (NFATc2) (NFAT pre-existing subunit) (NF-ATp) (T-cell transcription factor NFAT1)
• Protein function: Plays a role in the inducible expression of cytokine genes in T-cells, especially in the induction of the IL-2, IL-3, IL-4, TNF-alpha or GM-CSF (PubMed:15790681). Promotes invasive migration through the activation of GPC6 expression and WNT5A si
• PDB: 1A02, 1OWR, 1P7H, 1PZU, 1S9K, 2AS5, 2O93, 3QRF, 8OW4, 8R07, 8R3F
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00554	RHD_DNA_bind	410 → 570	Rel homology DNA-binding domain	Domain
  PF16179	RHD_dimer	579 → 679	Rel homology dimerisation domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed in thymus, spleen, heart, testis, brain, placenta, muscle and pancreas. Isoform 1 is highly expressed in the small intestine, heart, testis, prostate, thymus, placenta and thyroid. Isoform 3 is highly expressed in stomach, ut
• Sequence:

  MNAPERQPQPDGGDAPGHEPGGSPQDELDFSILFDYEYLNPNEEEPNAHKVASPPSGPAY
  PDDVLDYGLKPYSPLASLSGEPPGRFGEPDRVGPQKFLSAAKPAGASGLSPRIEITPSHE
  LIQAVGPLRMRDAGLLVEQPPLAGVAASPRFTLPVPGFEGYREPLCLSPASSGSSASFIS
  DTFSPYTSPCVSPNNGGPDDLCPQFQNIPAHYSPRTSPIMSPRTSLAEDSCLGRHSPVPR
  PASRSSSPGAKRRHSCAEALVALPPGASPQRSRSPSPQPSSHVAPQDHGSPAGYPPVAGS
  AVIMDALNSLATDSPCGIPPKMWKTSPDPSPVSAAPSKAGLPRHIYPAVEFLGPCEQGER
  RNSAPESILLVPPTWPKPLVPAIPICSIPVTASLPPLEWPLSSQSGSYELRIEVQPKPHH
  RAHYETEGSRGAVKAPTGGHPVVQLHGYMENKPLGLQIFIGTADERILKPHAFYQVHRIT
  GKTVTTTSYEKIVGNTKVLEIPLEPKNNMRATIDCAGILKLRNADIELRKGETDIGRKNT
  RVRLVFRVHIPESSGRIVSLQTASNPIECSQRSAHELPMVERQDTDSCLVYGGQQMILTG
  QNFTSESKVVFTEKTTDGQQIWEMEATVDKDKSQPNMLFVEIPEYRNKHIRTPVKVNFYV
  INGKRKRSQPQHFTYHPVPAIKTEPTDEYDPTLICSPTHGGLGSQPYYPQHPMVAESPSC
  LVATMAPCQQFRTGLSSPDARYQQQNPAAVLYQRSKSLSPSLLGYQQPALMAAPLSLADA
  HRSVLVHAGSQGQSSALLHPSPTNQQASPVIHYSPTNQQLRCGSHQEFQHIMYCENFAPG
  TTRPGPPPVSQGQRLSPGSYPTVIQQQNATSQRAAKNGPPVSDQKEVLPAGVTIKQEQNL
  DQTYLDDVNEIIRKEFSGPPARNQT

• Sequence length: 925

Pathways

KEGG:

Calcium signaling pathway
cGMP-PKG signaling pathway
Efferocytosis
Cellular senescence
Wnt signaling pathway
Axon guidance
VEGF signaling pathway
Osteoclast differentiation
C-type lectin receptor signaling pathway
Natural killer cell mediated cytotoxicity
Th1 and Th2 cell differentiation
Th17 cell differentiation
T cell receptor signaling pathway
B cell receptor signaling pathway
Oxytocin signaling pathway
Yersinia infection
Hepatitis B
Human cytomegalovirus infection
Human T-cell leukemia virus 1 infection
Kaposi sarcoma-associated herpesvirus infection
Human immunodeficiency virus 1 infection
PD-L1 expression and PD-1 checkpoint pathway in cancer
Lipid and atherosclerosis

Reactome:

Calcineurin activates NFAT
FCERI mediated Ca+2 mobilization
CLEC7A (Dectin-1) induces NFAT activation
RUNX1 and FOXP3 control the development of regulatory T lymphocytes (Tregs)

Associated diseases

Evidence Score:

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

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Dilated cardiomyopathy 1A	Likely pathogenic	rs377609235	RCV002259538	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Joint contractures, osteochondromas, and B-cell lymphoma	Pathogenic	rs2515685116	RCV003152453	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ASTHMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, FAMILIAL IDIOPATHIC	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOVASCULAR DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL HEART DISEASE	—	ClinGen, Disgenet ClinGen, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, NON-INSULIN-DEPENDENT	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, TYPE 2	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DUPUYTREN CONTRACTURE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ESSENTIAL HYPERTENSION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSION, PULMONARY	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME X	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NERVOUS SYSTEM DISEASES	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NERVOUS SYSTEM DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBSESSIVE-COMPULSIVE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSORIASIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RESPIRATORY SYSTEM DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEASONAL ALLERGIC RHINITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPORADIC AMYOTROPHIC LATERAL SCLEROSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TOURETTE SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 1 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	25987655		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	28737489		★☆☆☆☆ Found in Text Mining only
Adult Acute Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	25987655		★☆☆☆☆ Found in Text Mining only
Allergic rhinitis (disorder)	Allergic rhinitis	GWASCAT_DG	30013184		★☆☆☆☆ Found in Text Mining only
Anaplasia	Anaplasia	BEFREE	26387540, 30692631		★☆☆☆☆ Found in Text Mining only
Anemia Aplastic	Aplastic anemia	Pubtator	17463169	Associate	★☆☆☆☆ Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA	Syndromic microphthalmia	BEFREE	25299780		★☆☆☆☆ Found in Text Mining only
Aplastic Anemia	Aplastic anemia	BEFREE	17463169		★☆☆☆☆ Found in Text Mining only
Aplastic Anemia	Aplastic anemia	LHGDN	17463169		★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	25376468	Associate	★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	27916586, 30806289		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Asthma	Asthma	Pubtator	33079489	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autoimmune Diseases	Autoimmune Diseases	BEFREE	24106272, 28972088, 30391024		★☆☆☆☆ Found in Text Mining only
Behavioral tic	Tourette syndrome	BEFREE	28737489		★☆☆☆☆ Found in Text Mining only
Bone Neoplasms	Bone neoplasm	Pubtator	24993903, 32327700, 34310785	Associate	★☆☆☆☆ Found in Text Mining only
Bone neoplasms	Bone neoplasms	BEFREE	29431183		★☆☆☆☆ Found in Text Mining only
Brain Ischemia	Brain ischemia	Pubtator	22363514	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	20101218, 21964595, 22767506, 25735562, 27859969, 29096894, 30467308, 31464639		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	16880514, 21964595, 27809618, 35265226, 37399784, 40496857	Associate	★☆☆☆☆ Found in Text Mining only
Burkitt Lymphoma	Burkitt`s Lymphoma	BEFREE	12594826		★☆☆☆☆ Found in Text Mining only
Burkitt Lymphoma	Burkitt`s Lymphoma	LHGDN	12594826		★☆☆☆☆ Found in Text Mining only
Burkitt Lymphoma	Burkitt lymphoma	Pubtator	12594826, 35472072	Associate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	28504924	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	22787160, 27458175, 31181320, 33023539, 33754043	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	26493727		★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	25299780	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	34257525	Associate	★☆☆☆☆ Found in Text Mining only
Carcinosarcoma	Carcinoma	Pubtator	25918253	Associate	★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	GWASCAT_DG	30595370		★☆☆☆☆ Found in Text Mining only
Childhood Acute Lymphoblastic Leukemia	Lymphoblastic Leukemia	BEFREE	25987655		★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	Pubtator	37285922	Stimulate	★☆☆☆☆ Found in Text Mining only
Chondrosarcoma	Chondrosarcoma	BEFREE	12183075		★☆☆☆☆ Found in Text Mining only
Chondrosarcoma Mesenchymal	Chondrosarcoma	Pubtator	32327700	Associate	★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	LHGDN	18710929		★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	BEFREE	21983832, 22738913		★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	15632146, 22738913		★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	15632146	Associate	★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic Neoplasms	BEFREE	26795951		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	22738913, 28504924, 28927426, 30410349, 31641208		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	BEFREE	22738913		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	26795951, 28504924	Associate	★☆☆☆☆ Found in Text Mining only
Congenital diaphragmatic hernia	Congenital diaphragmatic hernia	BEFREE	27522126		★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	22363514		★☆☆☆☆ Found in Text Mining only
Contracture	Contracture	Pubtator	35789258	Associate	★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	Pubtator	32183825	Inhibit	★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	BEFREE	30391024		★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	29157984, 30915215		★☆☆☆☆ Found in Text Mining only
Desmoplastic Small Round Cell Tumor	Desmoplastic Tumor	BEFREE	29661713		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 1	Diabetes mellitus, type 1	Pubtator	22332874	Inhibit	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	31030170		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	27935966		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	GWASCAT_DG	30718926		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	CTD_human_DG	30718926		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetic Nephropathies	Diabetic neuropathy	Pubtator	35885938	Associate	★☆☆☆☆ Found in Text Mining only
Diffuse Large B-Cell Lymphoma	Diffuse Lymphoma	BEFREE	27399331		★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down Syndrome	BEFREE	23830204		★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down syndrome	Pubtator	23830204	Associate	★☆☆☆☆ Found in Text Mining only
Eclampsia	Eclampsia	BEFREE	24931237		★☆☆☆☆ Found in Text Mining only
Eczema	Eczema	GWASCAT_DG	30595370		★☆☆☆☆ Found in Text Mining only
Edema	Edema	Pubtator	20628086	Associate	★☆☆☆☆ Found in Text Mining only
Enchondroma	Enchondroma	BEFREE	12183075		★☆☆☆☆ Found in Text Mining only
Eosinophilia	Eosinophilia	Pubtator	33079489	Associate	★☆☆☆☆ Found in Text Mining only
Eosinophilia	Eosinophilia	BEFREE	9516119		★☆☆☆☆ Found in Text Mining only
Ewings sarcoma	Ewing sarcoma	BEFREE	19318479, 23480895, 24993903, 29626598, 30895378, 30994538		★☆☆☆☆ Found in Text Mining only
Extraskeletal Myxoid Chondrosarcoma	Extraskeletal Myxoid Chondrosarcoma	BEFREE	30994538		★☆☆☆☆ Found in Text Mining only
Giant Cell Tumor of Bone	Giant cell tumor of bone	Pubtator	24993903	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	23762456, 24130787	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	24130787, 30940662, 31181312		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	23762456, 24130787, 31181312		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	24130787, 29258522, 29324390, 30940662		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	37452092	Associate	★☆☆☆☆ Found in Text Mining only
Gout	Gout	Pubtator	31738005	Associate	★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	24486774	Associate	★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	22363514		★☆☆☆☆ Found in Text Mining only
Heart Failure	Heart failure	Pubtator	22363514	Associate	★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin Disease	BEFREE	1596893		★☆☆☆☆ Found in Text Mining only
Hypereosinophilic syndrome	Hypereosinophilic Syndrome	BEFREE	16219537		★☆☆☆☆ Found in Text Mining only
Hypereosinophilic Syndrome	Hypereosinophilic syndrome	Pubtator	16219537	Associate	★☆☆☆☆ Found in Text Mining only
Hypersensitivity Immediate	Hypersensitivity	Pubtator	12594826	Associate	★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	GWASCAT_DG	30487518		★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	29426911	Stimulate	★☆☆☆☆ Found in Text Mining only
Idiopathic Hypereosinophilic Syndrome	Hypereosinophilic Syndrome	BEFREE	16219537		★☆☆☆☆ Found in Text Mining only
Idiopathic pulmonary arterial hypertension	Pulmonary arterial hypertension	BEFREE	17596340, 28560440		★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	19828810		★☆☆☆☆ Found in Text Mining only
Intervertebral Disc Degeneration	Intervertebral disc disease	Pubtator	40561275	Associate	★☆☆☆☆ Found in Text Mining only
Kaposi Sarcoma	Kaposi Sarcoma	BEFREE	23028325		★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	LHGDN	18246125		★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	GWASCAT_DG	27903959		★☆☆☆☆ Found in Text Mining only
Lip and Oral Cavity Carcinoma	Lip and Oral Cavity Carcinoma	BEFREE	31452252		★☆☆☆☆ Found in Text Mining only
Liposarcoma Myxoid	Liposarcoma	Pubtator	30895378, 32362012	Associate	★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	22787160, 24243709, 31181320		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	17237447	Stimulate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	20506525, 25225673	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	17237447, 30391024		★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	LHGDN	16497967		★☆☆☆☆ Found in Text Mining only
Malignant Glioma	Glioma	BEFREE	29258522		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	21964595, 22767506, 25735562, 27859969, 29096894, 30467308, 31464639		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	26493727		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of mouth	Malignant neoplasm of mouth	BEFREE	31452252		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	21628454, 22079596, 23359789, 26823495, 30217928, 30696421		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	23105117, 27013197, 27399331, 29808317, 30217928		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	22738913		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	LHGDN	16505480		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	21964595, 25735562, 31464639		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	22718120, 26387540, 27013197, 30459241, 30692631, 31304984		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	22718120	Associate	★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	30459241	Stimulate	★☆☆☆☆ Found in Text Mining only
Metastatic melanoma	Metastatic Melanoma	BEFREE	22986745, 27013197		★☆☆☆☆ Found in Text Mining only
Mild cognitive disorder	Cognitive disorder	BEFREE	19828810		★☆☆☆☆ 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	32183825	Stimulate	★☆☆☆☆ Found in Text Mining only
Mucocutaneous Lymph Node Syndrome	Kawasaki disease	Pubtator	36779231, 36974504	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	32922167	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	25630465		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple sclerosis	Pubtator	31170158, 34584155	Associate	★☆☆☆☆ Found in Text Mining only
Narcolepsy	Narcolepsy	BEFREE	20677014, 26333835		★☆☆☆☆ Found in Text Mining only
Narcolepsy	Narcolepsy	Pubtator	26333835, 32358372, 32669953	Associate	★☆☆☆☆ Found in Text Mining only
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	BEFREE	30772768		★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Carcinoma	Nasopharyngeal carcinoma	Pubtator	30772768	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	12183075, 20097868, 22079596, 22738913, 22986745, 23588365, 23762456, 25735562, 25987655, 26387540, 26823495, 27013197, 27399331, 28024290, 28131743, 28629530, 29431183, 29626598, 29661713, 29721385, 30459241, 30710146, 30772768, 31214790		★☆☆☆☆ Found in Text Mining only
Nerve Sheath Tumors	Nerve Sheath Tumors	BEFREE	29661713		★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	CTD_human_DG	21245421		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neuroblastoma	Neuroblastoma	BEFREE	29661713		★☆☆☆☆ Found in Text Mining only
Neutropenia	Neutropenia	Pubtator	19344427	Associate	★☆☆☆☆ Found in Text Mining only
Osteochondroma	Osteochondroma	Pubtator	35789258	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	21628454, 22079596, 23359789, 26823495, 30217928, 30696421, 31519571		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	28774282, 30696421, 38035702	Associate	★☆☆☆☆ Found in Text Mining only
Precursor Cell Lymphoblastic Leukemia Lymphoma	Lymphoblastic Leukemia	GWASCAT_DG	25987655		★☆☆☆☆ Found in Text Mining only
Precursor Cell Lymphoblastic Leukemia Lymphoma	Lymphoblastic Leukemia	BEFREE	29661713		★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	BEFREE	20653821		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pulmonary arterial hypertension	Pulmonary arterial hypertension	BEFREE	28560440		★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	23905758	Stimulate	★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal Diseases	BEFREE	26527057		★☆☆☆☆ Found in Text Mining only
Rhabdoid Tumor	Rhabdoid Tumor	BEFREE	29661713		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	25376468		★☆☆☆☆ Found in Text Mining only
Right Ventricular Hypertrophy	Ventricular hypertrophy	BEFREE	28680569		★☆☆☆☆ Found in Text Mining only
Sarcoidosis	Sarcoidosis	Pubtator	21177920	Inhibit	★☆☆☆☆ Found in Text Mining only
Sarcoidosis	Sarcoidosis	Pubtator	22984568	Associate	★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	BEFREE	29661713, 29920735, 30633925, 30895378, 30994538		★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	Pubtator	31972596, 32327700, 36232302, 36555836	Associate	★☆☆☆☆ Found in Text Mining only
Sarcoma Ewing	Sarcoma	Pubtator	24993903, 28643791, 30895378	Associate	★☆☆☆☆ Found in Text Mining only
Sarcoma, Spindle Cell	Sarcoma	BEFREE	29431183		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	GWASDB_DG	21926974		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	GWASCAT_DG	28924203		★☆☆☆☆ Found in Text Mining only
Small cell carcinoma of lung	Lung carcinoma	BEFREE	29661713		★☆☆☆☆ Found in Text Mining only
Soft Tissue Neoplasms	Soft Tissue Neoplasms	BEFREE	29626598, 30994538		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	28024290		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	27035117	Associate	★☆☆☆☆ Found in Text Mining only
Tetralogy of Fallot	Tetralogy of fallot	Pubtator	24479926	Associate	★☆☆☆☆ Found in Text Mining only
Thrombocythemia, Essential	Thrombocythemia	BEFREE	22911897		★☆☆☆☆ Found in Text Mining only
Tic disorder	Tic Disorder	BEFREE	28737489		★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	BEFREE	22851040		★☆☆☆☆ Found in Text Mining only
Varicosity	Vulval varices	GWASCAT_DG	30566020, 30998689		★☆☆☆☆ Found in Text Mining only
Vascular Malformations	Vascular malformation	Pubtator	34081036	Associate	★☆☆☆☆ Found in Text Mining only
Wiskott-Aldrich Syndrome	Wiskott-Aldrich Syndrome	BEFREE	17082665		★☆☆☆☆ Found in Text Mining only