IRF3 (interferon regulatory factor 3)

Gene

• Entrez ID: 3661
• Gene name: Interferon regulatory factor 3
• Gene symbol: IRF3
• Synonyms (NCBI Gene): IIAE7
• Chromosome: 19
• Chromosome location: 19q13.33
• Summary: This gene encodes a member of the interferon regulatory transcription factor (IRF) family. The encoded protein is found in an inactive cytoplasmic form that upon serine/threonine phosphorylation forms a complex with CREBBP. This complex translocates to th

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs143769046	C>T	Likely-benign, risk-factor	Missense variant, non coding transcript variant, intron variant, coding sequence variant
rs750526659	C>G,T	Risk-factor	Coding sequence variant, non coding transcript variant, intron variant, missense variant

Transcription factors

Transcription factor	Regulation	Reference
E2F1	Repression	21225257;22464952
IRF4	Repression	19955181

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	IDA	8524823
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	IDA	8524823
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IEA
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IMP	17560375
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	IDA	8524823
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:0001216	Function	DNA-binding transcription activator activity	IDA	8524823, 36603579
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	IMP	17560375
GO:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	TAS	37403426
GO:0001819	Process	Positive regulation of cytokine production	IEA
GO:0002376	Process	Immune system process	IBA
GO:0002376	Process	Immune system process	IEA
GO:0002753	Process	Cytoplasmic pattern recognition receptor signaling pathway	IDA	8524823
GO:0003677	Function	DNA binding	IEA
GO:0003677	Function	DNA binding	NAS	12062447
GO:0003700	Function	DNA-binding transcription factor activity	IC	8524823
GO:0003700	Function	DNA-binding transcription factor activity	IDA	8524823
GO:0003700	Function	DNA-binding transcription factor activity	IEA
GO:0005515	Function	Protein binding	IDA	10920266
GO:0005515	Function	Protein binding	IPI	15841462, 16154084, 16362036, 17599067, 17761676, 18309294, 18583960, 18711448, 18818105, 19153231, 20308324, 20581830, 20628368, 21903422, 21988832, 22908223, 23746807, 24622840, 24807708, 25609812, 25803835, 26347139, 27980081, 29429998, 29802199, 31413131, 32726803, 32878885, 349
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	10805757, 25636800, 31340999, 36603579
GO:0005634	Component	Nucleus	IDA	17079289, 18818105
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005737	Component	Cytoplasm	IDA	9566918
GO:0005737	Component	Cytoplasm	IDA	17079289, 18818105
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	IGI	23729669
GO:0005739	Component	Mitochondrion	IDA	25609812
GO:0005739	Component	Mitochondrion	IEA
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:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0006915	Process	Apoptotic process	TAS	20049431
GO:0006974	Process	DNA damage response	TAS	16979567
GO:0007166	Process	Cell surface receptor signaling pathway	IEA
GO:0009299	Process	MRNA transcription	IDA	9891032
GO:0009617	Process	Response to bacterium	IEA
GO:0010468	Process	Regulation of gene expression	IEA
GO:0012501	Process	Programmed cell death	IEA
GO:0019904	Function	Protein domain specific binding	IPI	11583620
GO:0023019	Process	Signal transduction involved in regulation of gene expression	TAS	37403426
GO:0031663	Process	Lipopolysaccharide-mediated signaling pathway	IEA
GO:0032481	Process	Positive regulation of type I interferon production	IDA	18636090, 25636800, 36603579
GO:0032481	Process	Positive regulation of type I interferon production	IEA
GO:0032496	Process	Response to lipopolysaccharide	IEA
GO:0032727	Process	Positive regulation of interferon-alpha production	IEA
GO:0032727	Process	Positive regulation of interferon-alpha production	ISS
GO:0032728	Process	Positive regulation of interferon-beta production	IEA
GO:0032728	Process	Positive regulation of interferon-beta production	ISS
GO:0032728	Process	Positive regulation of interferon-beta production	TAS	16979567
GO:0034142	Process	Toll-like receptor 4 signaling pathway	IDA	25636800
GO:0035666	Process	TRIF-dependent toll-like receptor signaling pathway	IDA	25636800
GO:0039530	Process	MDA-5 signaling pathway	TAS	16979567
GO:0042802	Function	Identical protein binding	IEA
GO:0042802	Function	Identical protein binding	IPI	15841462, 16301520, 18725644, 19416887, 19454348, 20403326, 20581830, 21102435, 21782231, 22000020, 22728658, 23746807, 25609649, 32726803, 34084167
GO:0042803	Function	Protein homodimerization activity	IDA	22394562, 30699354
GO:0042803	Function	Protein homodimerization activity	IPI	12062447
GO:0042981	Process	Regulation of apoptotic process	IDA	25609812
GO:0043123	Process	Positive regulation of canonical NF-kappaB signal transduction	IEA
GO:0043330	Process	Response to exogenous dsRNA	IEA
GO:0043565	Function	Sequence-specific DNA binding	IDA	17574024, 23332764
GO:0045087	Process	Innate immune response	IEA
GO:0045087	Process	Innate immune response	TAS	37403426
GO:0045089	Process	Positive regulation of innate immune response	IEA
GO:0045893	Process	Positive regulation of DNA-templated transcription	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	8524823, 9660935
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IMP	17560375
GO:0050727	Process	Regulation of inflammatory response	IEA
GO:0051607	Process	Defense response to virus	IEA
GO:0051607	Process	Defense response to virus	ISS
GO:0060337	Process	Type I interferon-mediated signaling pathway	IEA
GO:0060340	Process	Positive regulation of type I interferon-mediated signaling pathway	IEA
GO:0071222	Process	Cellular response to lipopolysaccharide	IEA
GO:0071360	Process	Cellular response to exogenous dsRNA	IEA
GO:0071888	Process	Macrophage apoptotic process	TAS	16846591
GO:0097300	Process	Programmed necrotic cell death	IEA
GO:0098586	Process	Cellular response to virus	IDA	25609812
GO:0098586	Process	Cellular response to virus	IEA
GO:0140374	Process	Antiviral innate immune response	IDA	9891032
GO:0140896	Process	CGAS/STING signaling pathway	TAS	37403426
GO:1900017	Process	Positive regulation of cytokine production involved in inflammatory response	TAS	37403426
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IDA	28473536
GO:1990841	Function	Promoter-specific chromatin binding	IEA

Other IDs

• MIM: 603734
• HGNC: 6118
• e!Ensembl: ENSG00000126456

Protein

• UniProt ID: Q14653
• Protein name: Interferon regulatory factor 3 (IRF-3)
• Protein function: Key transcriptional regulator of type I interferon (IFN)-dependent immune responses which plays a critical role in the innate immune response against DNA and RNA viruses (PubMed:22394562, PubMed:24049179, PubMed:25636800, PubMed:27302953, PubMed
• PDB: 1J2F, 1QWT, 1T2K, 1ZOQ, 2O61, 2O6G, 2PI0, 3A77, 3QU6, 5JEJ, 5JEK, 5JEL, 5JEM, 5JEO, 5JER, 6SIV, 6SJA, 7JFL
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00605	IRF	7 → 110	Interferon regulatory factor transcription factor	Domain
  PF10401	IRF-3	201 → 380	Interferon-regulatory factor 3	Family

• Tissue specificity: TISSUE SPECIFICITY: Expressed constitutively in a variety of tissues. {ECO:0000269|PubMed:8524823}.
• Sequence:

  MGTPKPRILPWLVSQLDLGQLEGVAWVNKSRTRFRIPWKHGLRQDAQQEDFGIFQAWAEA
  TGAYVPGRDKPDLPTWKRNFRSALNRKEGLRLAEDRSKDPHDPHKIYEFVNSGVGDFSQP
  DTSPDTNGGGSTSDTQEDILDELLGNMVLAPLPDPGPPSLAVAPEPCPQPLRSPSLDNPT
  PFPNLGPSENPLKRLLVPGEEWEFEVTAFYRGRQVFQQTISCPEGLRLVGSEVGDRTLPG
  WPVTLPDPGMSLTDRGVMSYVRHVLSCLGGGLALWRAGQWLWAQRLGHCHTYWAVSEELL
  PNSGHGPDGEVPKDKEGGVFDLGPFIVDLITFTEGSGRSPRYALWFCVGESWPQDQPWTK
  RLVMVKVVPTCLRALVEMARVGGASSLENTVDLHISNSHPLSLTSDQYKAYLQDLVEGMD
  FQGPGES

• Sequence length: 427

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
AUTOIMMUNE THYROID DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BRAIN DISEASES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 7	risk factor; Uncertain significance; Conflicting classifications of pathogenicity; Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INFLAMMATORY BOWEL DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IRF3-related disorder	risk factor; Uncertain significance; Likely benign; Benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Multisystem inflammatory syndrome in children	risk factor	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-MELANOMA SKIN CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SKIN CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SKIN NEOPLASM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VITILIGO	—	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	25893288		★☆☆☆☆ Found in Text Mining only
Acute monocytic leukemia	Monocytic Leukemia	BEFREE	23542224		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	20501320		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	28566697, 29100282, 29511303		★☆☆☆☆ Found in Text Mining only
Adrenal Gland Pheochromocytoma	Adrenal Gland Pheochromocytoma	BEFREE	21120614		★☆☆☆☆ Found in Text Mining only
Adrenoleukodystrophy	Adrenoleukodystrophy	BEFREE	21274885		★☆☆☆☆ Found in Text Mining only
Adult T-Cell Lymphoma/Leukemia	T-Cell Lymphoma/Leukemia	BEFREE	26819312		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	30076830	Stimulate	★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	39753133	Associate	★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	23279185		★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	28115514		★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	Pubtator	24475887	Associate	★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	24760149		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	Pubtator	20154210	Associate	★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	28115514		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	20709399, 24379396		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune disease	Pubtator	26794091	Associate	★☆☆☆☆ Found in Text Mining only
Biliary Atresia	Biliary atresia	Pubtator	29070776	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	31287789, 31625993, 31651438		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	31287789	Associate	★☆☆☆☆ Found in Text Mining only
Bronchiolitis	Bronchiolitis	BEFREE	28336364		★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	23449805, 28566697	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	18781139, 25100852, 32394474	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	33006365	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	20501320, 28566697, 31308089		★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	36905103	Associate	★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	21999375		★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	19012493		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervix carcinoma	Cervix carcinoma	BEFREE	19012493		★☆☆☆☆ Found in Text Mining only
Chagas Cardiomyopathy	Chagas Cardiomyopathy	BEFREE	20709399		★☆☆☆☆ Found in Text Mining only
Chiari malformation type II	Chiari malformation	BEFREE	20502666		★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	27348780		★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	BEFREE	22881993, 28363903		★☆☆☆☆ Found in Text Mining only
Cirrhosis	Cirrhosis	BEFREE	19858727, 24131527		★☆☆☆☆ Found in Text Mining only
Colitis Ulcerative	Ulcerative colitis	Pubtator	36165492	Associate	★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	21859832		★☆☆☆☆ Found in Text Mining only
Colonic Diseases	Colonic disease	Pubtator	21859832	Associate	★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	33161410	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	25350395, 30004146		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	21859832, 25350395, 31869529	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	34488791	Stimulate	★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	28115514		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	28115514		★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	28115514		★☆☆☆☆ Found in Text Mining only
Coronary Stenosis	Coronary Stenosis	BEFREE	24146036		★☆☆☆☆ Found in Text Mining only
Cutaneous Melanoma	Melanoma	CLINVAR_DG	26619011		★☆☆☆☆ Found in Text Mining only
Dermatomyositis	Dermatomyositis	Pubtator	36030554	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	28698384	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	20067962, 36552771	Associate	★☆☆☆☆ Found in Text Mining only
Encephalitis	Encephalitis	BEFREE	30094631		★☆☆☆☆ Found in Text Mining only
Encephalitis	Encephalitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	35993041	Associate	★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	Pubtator	36509095	Associate	★☆☆☆☆ Found in Text Mining only
Eosinophilia	Eosinophilia	BEFREE	24726644		★☆☆☆☆ Found in Text Mining only
Familial lichen amyloidosis	Lichen amyloidosis	BEFREE	23657238		★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty Liver	BEFREE	23075869, 24123166		★☆☆☆☆ Found in Text Mining only
Gastroenteritis	Gastroenteritis	BEFREE	28848548		★☆☆☆☆ Found in Text Mining only
Gingivitis	Gingival diseases	Pubtator	31448244	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	28683323, 28774478		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	28683323, 28774478		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	23512614, 28781061		★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	BEFREE	25610879		★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	34108245	Inhibit	★☆☆☆☆ Found in Text Mining only
Immune System Diseases	Immune System Diseases	BEFREE	21842368		★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	BEFREE	19706707		★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	31283973		★☆☆☆☆ Found in Text Mining only
Kaposi Sarcoma	Kaposi Sarcoma	BEFREE	14668346, 21133648, 29339432		★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	23542224, 27530922		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	18781139, 19858727		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver Cirrhosis	BEFREE	19858727, 24131527		★☆☆☆☆ Found in Text Mining only
Lung diseases	Lung Diseases	BEFREE	28951494, 30772497		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	28566697	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	25130328, 40131776	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	18539711, 19213861, 22127978, 25130328		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	LHGDN	18539711		★☆☆☆☆ Found in Text Mining only
Lupus Nephritis	Lupus Nephritis	BEFREE	31625434		★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	LHGDN	17393359		★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	Pubtator	17393359	Inhibit	★☆☆☆☆ Found in Text Mining only
Lymphoma Follicular	Lymphoma	Pubtator	17393359	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	31287789, 31625993, 31651438		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	20501320, 28566697, 29512705, 31308089		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	29339449, 31733580		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	18056437, 20501320, 24752990, 28791644, 29106401, 30583098		★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	19012493		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	21859832		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	17289677, 29032405		★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic Diseases	BEFREE	24123166, 29106945		★☆☆☆☆ Found in Text Mining only
Mucocutaneous Lymph Node Syndrome	Kawasaki disease	Pubtator	34193364	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple sclerosis	Pubtator	22170100, 40131776	Associate	★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	29106401		★☆☆☆☆ Found in Text Mining only
Myocarditis	Myocarditis	BEFREE	20463082		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	12582166, 16969500, 18056437, 20501320, 23512614, 26692175, 28366813, 28651122, 29853604, 30404809, 31299200		★☆☆☆☆ Found in Text Mining only
Nephrosis congenital	Nephrotic syndrome	Pubtator	26123900	Associate	★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	17156435	Associate	★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	32413959	Associate	★☆☆☆☆ Found in Text Mining only
Neuropathy	Neuropathy	BEFREE	30952992		★☆☆☆☆ Found in Text Mining only
Non-alcoholic Fatty Liver Disease	Non-Alcoholic Fatty Liver Disease	BEFREE	29106945		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	23658645, 29512705		★☆☆☆☆ Found in Text Mining only
Noonan Syndrome 6	Noonan Syndrome	BEFREE	29769346		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	24123166		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	32188105	Associate	★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	36851534	Inhibit	★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	35662245	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	35012444	Associate	★☆☆☆☆ Found in Text Mining only
Pheochromocytoma	Pheochromocytoma	BEFREE	21120614		★☆☆☆☆ Found in Text Mining only
Polycythemia Vera	Polycythemia Vera	BEFREE	29407577		★☆☆☆☆ Found in Text Mining only
Precursor Cell Lymphoblastic Leukemia Lymphoma	Lymphoblastic Leukemia	BEFREE	25893288		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	23657238, 32894795, 38057852, 38376283	Associate	★☆☆☆☆ Found in Text Mining only
Pruritus	Pruritus	Pubtator	33766508	Associate	★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	BEFREE	31486084		★☆☆☆☆ Found in Text Mining only
Pulmonary Emphysema	Pulmonary Emphysema	BEFREE	28363903		★☆☆☆☆ Found in Text Mining only
Pyelonephritis	Pyelonephritis	BEFREE	20886096		★☆☆☆☆ Found in Text Mining only
Rectal Carcinoma	Rectal Carcinoma	BEFREE	21859832		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	17328045		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	25843157		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Septicemia	Septicemia	BEFREE	29712834		★☆☆☆☆ Found in Text Mining only
Severe Acute Respiratory Syndrome	Severe Acute Respiratory Syndrome	BEFREE	29294448		★☆☆☆☆ Found in Text Mining only
Sezary Syndrome	Sezary syndrome	Pubtator	20698843	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	20501320		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of skin	Skin carcinoma	CLINVAR_DG	26619011		★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	BEFREE	18713975, 23075869, 24123166		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	29339449, 31733580		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	20507321, 37328804	Associate	★☆☆☆☆ Found in Text Mining only
Urothelial Carcinoma	Urothelial Carcinoma	BEFREE	31576137		★☆☆☆☆ Found in Text Mining only
Uterine Cervical Dysplasia	Uterine disease	Pubtator	19012493	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	19012493	Associate	★☆☆☆☆ Found in Text Mining only
Van der Woude syndrome	Van Der Woude Syndrome	BEFREE	31620122		★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular disease	Pubtator	20154210	Associate	★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular Diseases	BEFREE	28951494		★☆☆☆☆ Found in Text Mining only
Vesicular Stomatitis	Vesicular Stomatitis	BEFREE	15955070, 18781139, 19152337, 31694919		★☆☆☆☆ Found in Text Mining only
Vitiligo	Vitiligo	GWASCAT_DG	27723757		★★☆☆☆ Found in Text Mining + Unknown/Other Associations