Gene Gene information from NCBI Gene database. Download as csv Download as pdf
Entrez ID	4773
Gene name	Nuclear factor of activated T cells 2
Gene symbol	NFATC2
Synonyms (NCBI Gene)	JCOSLNFAT1NFATP
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

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miRTarBase ID	miRNA	Experiments	Reference
MIRT005078	hsa-miR-184	Luciferase reporter assayqRT-PCRWestern 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

61 Show/Hide all (61)

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

MIM	HGNC	e!Ensembl
600490	7776	ENSG00000101096

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

Interactions

View interactions

KEGG Pathway	Reactome Pathway
Calcium signaling pathway	Calcineurin activates NFAT
cGMP-PKG signaling pathway	FCERI mediated Ca+2 mobilization
Efferocytosis	CLEC7A (Dectin-1) induces NFAT activation
Cellular senescence	RUNX1 and FOXP3 control the development of regulatory T lymphocytes (Tregs)
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

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)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
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)

Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal. Show/Hide Unknown Diseases (25)
ALZHEIMER DISEASE	—	GWAS catalog	39998322	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ASTHMA	—	GWAS catalog	29083406, 31361310, 32296059	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, FAMILIAL IDIOPATHIC	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOVASCULAR DISEASE	—	GWAS catalog	30595370	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER	—	GWAS catalog	37359372	★★★★★ ★★☆☆☆ 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	30718926	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DUPUYTREN CONTRACTURE	—	GWAS catalog	37315093, 38172110, 39024449	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ESSENTIAL HYPERTENSION	—	GWAS catalog	39024449	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSION	—	GWAS catalog	30487518, 39024449	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSION, PULMONARY	—	CTD	27522126	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	39349817	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME X	—	GWAS catalog	39024449	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NERVOUS SYSTEM DISEASES	—	CTD	21245421	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NERVOUS SYSTEM DISORDER	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBSESSIVE-COMPULSIVE DISORDER	—	GWAS catalog	25158072	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSORIASIS	—	GWAS catalog	40021644	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RESPIRATORY SYSTEM DISEASE	—	GWAS catalog	38965376	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS	—	GWAS catalog	30019117	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEASONAL ALLERGIC RHINITIS	—	GWAS catalog	30013184	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPORADIC AMYOTROPHIC LATERAL SCLEROSIS	—	GWAS catalog	24529757	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TOURETTE SYNDROME	—	GWAS catalog	25158072	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 1 DIABETES MELLITUS	—	GWAS catalog	39749473	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	30718926, 32499647, 32514122, 32541925, 34594039, 38374256, 39349817, 39749473	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining Show/Hide Text Mining Associations (155)
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 View all (9 more)		★★★★★ ★☆☆☆☆ 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

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathways	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
ATP9A	3	["Dupuytren contracture","Tourette syndrome","Obsessive-compulsive disorder"]	0	[]	3	["GWAS catalog (Dupuytren contracture)","GWAS catalog (Obsessive-compulsive disorder)","GWAS catalog (Tourette syndrome)"]
NFATC1	1	["Congenital heart disease"]	24	["Calcium signaling pathway","cGMP-PKG signaling pathway","Efferocytosis","Cellular senescence","Wnt 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"]	2	["Disgenet (Congenital heart disease)","ClinGen (Congenital heart disease)"]
SPPL3	3	["Tourette syndrome","Obsessive-compulsive disorder","Seasonal allergic rhinitis"]	0	[]	3	["GWAS catalog (Obsessive-compulsive disorder)","GWAS catalog (Seasonal allergic rhinitis)","GWAS catalog (Tourette syndrome)"]
NFATC3	0	[]	23	["Calcium signaling pathway","cGMP-PKG signaling pathway","Efferocytosis","Cellular senescence","Wnt signaling pathway","Axon guidance","C-type lectin receptor signaling pathway","Th1 and Th2 cell differentiation","Th17 cell differentiation","T cell receptor signaling pathway","B cell receptor signaling pathway","Oxytocin signaling pathway"]	0	[]
SRF	2	["Cardiomyopathy","Congenital heart disease"]	2	["cGMP-PKG signaling pathway","Human T-cell leukemia virus 1 infection"]	3	["Disgenet (Cardiomyopathy)","Disgenet (Congenital heart disease)","ClinGen (Congenital heart disease)"]

NFATC2 (nuclear factor of activated T cells 2)

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