STING1 (stimulator of interferon response cGAMP interactor 1)

Gene

• Entrez ID: 340061
• Gene name: Stimulator of interferon response cGAMP interactor 1
• Gene symbol: STING1
• Synonyms (NCBI Gene): ERIS, MITA, MPYS, NET23, SAVI, STING, STING-beta, TMEM173, hMITA, hSTING
• Chromosome: 5
• Chromosome location: 5q31.2
• Summary: This gene encodes a five transmembrane protein that functions as a major regulator of the innate immune response to viral and bacterial infections. The encoded protein is a pattern recognition receptor that detects cytosolic nucleic acids and transmits si

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs140011636	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, intron variant, missense variant
rs587777609	T>C	Pathogenic	Coding sequence variant, missense variant
rs587777610	C>T	Pathogenic	Coding sequence variant, missense variant
rs587777611	C>G	Pathogenic	Coding sequence variant, missense variant
rs1561482476	C>T	Pathogenic	Downstream transcript variant, coding sequence variant, genic downstream transcript variant, intron variant, missense variant

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000045	Process	Autophagosome assembly	IBA
GO:0000045	Process	Autophagosome assembly	IDA	23202584
GO:0000045	Process	Autophagosome assembly	IDA	30568238, 30842662, 37535724
GO:0000045	Process	Autophagosome assembly	IEA
GO:0000139	Component	Golgi membrane	IDA	37535724
GO:0000139	Component	Golgi membrane	IDA	29973723
GO:0000139	Component	Golgi membrane	IEA
GO:0000166	Function	Nucleotide binding	IEA
GO:0000421	Component	Autophagosome membrane	IEA
GO:0002218	Process	Activation of innate immune response	IBA
GO:0002218	Process	Activation of innate immune response	IDA	23910378
GO:0002218	Process	Activation of innate immune response	IEA
GO:0002221	Process	Pattern recognition receptor signaling pathway	IDA	23910378
GO:0002230	Process	Positive regulation of defense response to virus by host	IMP	18818105
GO:0002376	Process	Immune system process	IEA
GO:0002753	Process	Cytoplasmic pattern recognition receptor signaling pathway	IDA	29441066
GO:0002753	Process	Cytoplasmic pattern recognition receptor signaling pathway	IDA	23910378, 35388221
GO:0003713	Function	Transcription coactivator activity	IDA	18818105
GO:0005515	Function	Protein binding	IPI	18724357, 18818105, 19416887, 19433799, 20080758, 20628368, 20890285, 21903422, 22000020, 22312431, 22908223, 22911572, 23542348, 24560620, 24622840, 25299331, 26405230, 27302953, 29251827, 29429998, 30104205, 30842662, 32296183, 35013224
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IEA
GO:0005739	Component	Mitochondrion	IEA
GO:0005741	Component	Mitochondrial outer membrane	IDA	18818105
GO:0005741	Component	Mitochondrial outer membrane	IEA
GO:0005768	Component	Endosome	IDA	29694889
GO:0005776	Component	Autophagosome	IBA
GO:0005776	Component	Autophagosome	IDA	29694889
GO:0005776	Component	Autophagosome	IEA
GO:0005777	Component	Peroxisome	IEA
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IBA
GO:0005789	Component	Endoplasmic reticulum membrane	IDA	37832545
GO:0005789	Component	Endoplasmic reticulum membrane	IDA	19433799, 25254379, 29694889, 30119996, 30842659, 30842662
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	TAS	33833439
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0005794	Component	Golgi apparatus	IEA
GO:0005829	Component	Cytosol	IDA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0005929	Component	Cilium	IDA
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006914	Process	Autophagy	IEA
GO:0010468	Process	Regulation of gene expression	IEA
GO:0015252	Function	Proton channel activity	IDA	37535724
GO:0016020	Component	Membrane	IEA
GO:0016239	Process	Positive regulation of macroautophagy	IBA
GO:0016239	Process	Positive regulation of macroautophagy	IDA	30568238, 30842662, 37535724
GO:0016239	Process	Positive regulation of macroautophagy	IEA
GO:0019222	Process	Regulation of metabolic process	IEA
GO:0019901	Function	Protein kinase binding	IDA	18818105
GO:0019901	Function	Protein kinase binding	IPI	21074459
GO:0023019	Process	Signal transduction involved in regulation of gene expression	TAS	37403426
GO:0030659	Component	Cytoplasmic vesicle membrane	TAS
GO:0030667	Component	Secretory granule membrane	TAS
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0031625	Function	Ubiquitin protein ligase binding	IEA
GO:0032481	Process	Positive regulation of type I interferon production	IBA
GO:0032481	Process	Positive regulation of type I interferon production	IDA	14703513, 18636090, 25636800
GO:0032481	Process	Positive regulation of type I interferon production	IDA	22394562, 23747010, 25636800, 26669264, 29694889, 29973723, 30842659, 35388221, 37832545
GO:0032481	Process	Positive regulation of type I interferon production	IEA
GO:0032527	Process	Protein exit from endoplasmic reticulum	IDA	32690950, 37832545
GO:0032728	Process	Positive regulation of interferon-beta production	IDA	21074459, 25254379
GO:0032728	Process	Positive regulation of interferon-beta production	IEA
GO:0032728	Process	Positive regulation of interferon-beta production	IMP	19433799
GO:0033116	Component	Endoplasmic reticulum-Golgi intermediate compartment membrane	IDA	32690950, 37832545
GO:0033116	Component	Endoplasmic reticulum-Golgi intermediate compartment membrane	IDA	30842662
GO:0033116	Component	Endoplasmic reticulum-Golgi intermediate compartment membrane	IEA
GO:0033116	Component	Endoplasmic reticulum-Golgi intermediate compartment membrane	IEA
GO:0034220	Process	Monoatomic ion transmembrane transport	IEA
GO:0035438	Function	Cyclic-di-GMP binding	IBA
GO:0035438	Function	Cyclic-di-GMP binding	IDA	22705373, 29694889
GO:0035438	Function	Cyclic-di-GMP binding	IEA
GO:0035458	Process	Cellular response to interferon-beta	IEA
GO:0035591	Function	Signaling adaptor activity	IDA	23747010, 25636800, 37832545
GO:0036064	Component	Ciliary basal body	IDA
GO:0042802	Function	Identical protein binding	IPI	19433799, 22312431, 22728658, 22728659, 22728660, 23542348, 30405246, 30842659
GO:0042803	Function	Protein homodimerization activity	IDA	19433799, 21074459, 22705373
GO:0045087	Process	Innate immune response	IBA
GO:0045087	Process	Innate immune response	IDA	21074459, 23910378, 25254379
GO:0045087	Process	Innate immune response	IEA
GO:0045087	Process	Innate immune response	IMP	18818105, 19433799
GO:0045087	Process	Innate immune response	TAS	37403426
GO:0045087	Process	Innate immune response	TAS	37403426
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	18818105
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0048471	Component	Perinuclear region of cytoplasm	IEA
GO:0048471	Component	Perinuclear region of cytoplasm	ISS
GO:0050727	Process	Regulation of inflammatory response	IEA
GO:0051259	Process	Protein complex oligomerization	IDA	35388221
GO:0051259	Process	Protein complex oligomerization	IDA	30842659
GO:0051607	Process	Defense response to virus	IBA
GO:0051607	Process	Defense response to virus	IDA	21074459, 25254379
GO:0051607	Process	Defense response to virus	IEA
GO:0051607	Process	Defense response to virus	NAS	24622840
GO:0060340	Process	Positive regulation of type I interferon-mediated signaling pathway	IDA	23910378
GO:0060340	Process	Positive regulation of type I interferon-mediated signaling pathway	IEA
GO:0061507	Function	2',3'-cyclic GMP-AMP binding	IBA
GO:0061507	Function	2',3'-cyclic GMP-AMP binding	IDA	23747010, 26669264, 30842659, 30842662, 35388221
GO:0061507	Function	2',3'-cyclic GMP-AMP binding	IEA
GO:0061507	Function	2',3'-cyclic GMP-AMP binding	ISS
GO:0061507	Function	2',3'-cyclic GMP-AMP binding	TAS	37403426
GO:0061629	Function	RNA polymerase II-specific DNA-binding transcription factor binding	IPI	18818105
GO:0061709	Process	Reticulophagy	IBA
GO:0061709	Process	Reticulophagy	IEA
GO:0061709	Process	Reticulophagy	ISS
GO:0070972	Process	Protein localization to endoplasmic reticulum	IDA	37832545
GO:0070972	Process	Protein localization to endoplasmic reticulum	IDA	37832545
GO:0071360	Process	Cellular response to exogenous dsRNA	IMP	18818105
GO:0120283	Function	Protein serine/threonine kinase binding	IPI	18818105
GO:0140374	Process	Antiviral innate immune response	IDA	22394562
GO:0140374	Process	Antiviral innate immune response	IDA	21074459
GO:0140896	Process	CGAS/STING signaling pathway	IDA	25636800
GO:0140896	Process	CGAS/STING signaling pathway	IDA	25636800, 30842659, 30842662, 35388221, 37832545
GO:0140896	Process	CGAS/STING signaling pathway	IEA
GO:0140896	Process	CGAS/STING signaling pathway	TAS	37403426
GO:0140896	Process	CGAS/STING signaling pathway	TAS	37403426
GO:0141111	Process	Positive regulation of cGAS/STING signaling pathway	IDA	37832545
GO:1900017	Process	Positive regulation of cytokine production involved in inflammatory response	TAS	37403426
GO:1902554	Component	Serine/threonine protein kinase complex	NAS	24622840
GO:1902600	Process	Proton transmembrane transport	IEA
GO:1990231	Component	STING complex	IEA
GO:1990231	Component	STING complex	IPI	30405246

Other IDs

• MIM: 612374
• HGNC: 27962
• e!Ensembl: ENSG00000184584

Protein

• UniProt ID: Q86WV6
• Protein name: Stimulator of interferon genes protein (hSTING) (Endoplasmic reticulum interferon stimulator) (ERIS) (Mediator of IRF3 activation) (hMITA) (Transmembrane protein 173)
• Protein function: Facilitator of innate immune signaling that acts as a sensor of cytosolic DNA from bacteria and viruses and promotes the production of type I interferon (IFN-alpha and IFN-beta) (PubMed:18724357, PubMed:18818105, PubMed:19433799, PubMed:19776740
• PDB: 4EF4, 4EF5, 4EMT, 4EMU, 4F5D, 4F5E, 4F5W, 4F5Y, 4F9E, 4F9G, 4KSY, 4LOH, 4LOI, 4QXO, 4QXP, 4QXQ, 4QXR, 5BQX, 5JEJ, 6CFF, 6CY7, 6DNK, 6DXG, 6DXL, 6MX0, 6MX3, 6MXE, 6NT5, 6O8B, 6O8C, 6S26, 6S27, 6S86, 6UKM, 6UKU, 6UKV, 6UKW, 6UKX, 6UKY, 6UKZ, 6UL0, 6XF3, 6XF4, 6XNP, 6Y99, 6YDB, 6YDZ, 6YEA, 6YWA, 6YWB, 6Z0Z
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF15009	TMEM173	44 → 337	Transmembrane protein 173	Family

• Tissue specificity: TISSUE SPECIFICITY: Ubiquitously expressed (PubMed:18724357, PubMed:18818105). Expressed in skin endothelial cells, alveolar type 2 pneumocytes, bronchial epithelium and alveolar macrophages (PubMed:25029335). {ECO:0000269|PubMed:18724357, ECO:0000269|Pub
• Sequence:

  MPHSSLHPSIPCPRGHGAQKAALVLLSACLVTLWGLGEPPEHTLRYLVLHLASLQLGLLL
  NGVCSLAEELRHIHSRYRGSYWRTVRACLGCPLRRGALLLLSIYFYYSLPNAVGPPFTWM
  LALLGLSQALNILLGLKGLAPAEISAVCEKGNFNVAHGLAWSYYIGYLRLILPELQARIR
  TYNQHYNNLLRGAVSQRLYILLPLDCGVPDNLSMADPNIRFLDKLPQQTGDHAGIKDRVY
  SNSIYELLENGQRAGTCVLEYATPLQTLFAMSQYSQAGFSREDRLEQAKLFCRTLEDILA
  DAPESQNNCRLIAYQEPADDSSFSLSQEVLRHLRQEEKEEVTVGSLKTSAVPSTSTMSQE
  PELLISGMEKPLPLRTDFS

• Sequence length: 379

Pathways

KEGG:

NOD-like receptor signaling pathway
RIG-I-like receptor signaling pathway
Cytosolic DNA-sensing pathway
Shigellosis
Human cytomegalovirus infection
Herpes simplex virus 1 infection
Human immunodeficiency virus 1 infection
Coronavirus disease - COVID-19

Reactome:

STING mediated induction of host immune responses
Regulation of innate immune responses to cytosolic DNA
STAT6-mediated induction of chemokines
IRF3-mediated induction of type I IFN
Neutrophil degranulation

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
STING-associated vasculopathy with onset in infancy	Likely pathogenic; Pathogenic	rs2152094234, rs587777609, rs587777610, rs587777611, rs2547062066, rs2547063045, rs2547063044, rs1561482476	RCV001730166 RCV000133400 RCV000133401 RCV000133402 RCV002847646 RCV003335870 RCV003842903 RCV000689142	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autoinflammatory syndrome	Likely benign; Benign; Uncertain significance; Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
CHILBLAIN LUPUS 1	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ESOPHAGEAL SQUAMOUS CELL CARCINOMA	—	CTD, GWAS catalog CTD, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Likely benign; Uncertain significance; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL CHILBLAIN LUPUS	—	Disgenet, Orphanet Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL CHILBLAIN LUPUS ERYTHEMATOSUS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG ADENOCARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Likely benign	ClinVar GWAS catalog	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
LUNG CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-SMALL CELL LUNG CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSORIASIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SQUAMOUS CELL CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SQUAMOUS CELL LUNG CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STING1-related disorder	Likely benign; Conflicting classifications of pathogenicity; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acute pancreatitis	Pancreatitis	BEFREE	29425920		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of large intestine	Colorectal Cancer	BEFREE	26133168		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of pancreas	Pancreatic adenocarcinoma	BEFREE	30333318		★☆☆☆☆ Found in Text Mining only
Adult type dermatomyositis	Dermatomyositis	BEFREE	26593864		★☆☆☆☆ Found in Text Mining only
Age related macular degeneration	Age-related macular degeneration	BEFREE	31371933		★☆☆☆☆ Found in Text Mining only
AICARDI-GOUTIERES SYNDROME	Aicardi Goutieres Syndrome	BEFREE	26880576, 29781188		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	37221295, 38049398, 39753133	Associate	★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Aneuploidy	Aneuploidy	Pubtator	34215848	Associate	★☆☆☆☆ Found in Text Mining only
Anophthalmia with pulmonary hypoplasia	Anophthalmia	Pubtator	35773436	Associate	★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm Thoracic	Thoracic aortic aneurysm	Pubtator	35510553	Associate	★☆☆☆☆ Found in Text Mining only
Aortic Valve Stenosis	Aortic Valve Sclerosis	BEFREE	29131801		★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	Pubtator	25029335	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis Juvenile	Juvenile arthritis	Pubtator	33162473	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis Psoriatic	Psoriatic arthritis	Pubtator	35470716	Inhibit	★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	35470716	Stimulate	★☆☆☆☆ Found in Text Mining only
Ataxia Telangiectasia	Ataxia telangiectasia	Pubtator	34459078	Associate	★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	Pubtator	36598778	Associate	★☆☆☆☆ Found in Text Mining only
Atrophy	Atrophy	Pubtator	36030554	Associate	★☆☆☆☆ Found in Text Mining only
Attention Deficit and Disruptive Behavior Disorders	Attention deficit hyperactivity disorder	Pubtator	37931834	Associate	★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	24766893, 26593864, 27531928, 28771599, 28808969, 28859978, 29546673, 29558821, 30943264, 30955997, 30990921, 31118511, 31147550, 31623867, 31665637, 31681326, 31689545		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune disease	Pubtator	27512060, 27835584, 28806404, 29558821, 31665637, 35644988, 37129502, 37794597, 37802125, 38178067	Associate	★☆☆☆☆ Found in Text Mining only
Autoinflammatory disorder	Autoinflammatory Disease	GENOMICS_ENGLAND_DG	25401470		★☆☆☆☆ Found in Text Mining only
Autoinflammatory disorder	Autoinflammatory Disease	BEFREE	30796349		★☆☆☆☆ Found in Text Mining only
Blood Coagulation Disorders	Blood coagulation disorder	Pubtator	37120444	Associate	★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain neoplasms	Pubtator	37586773	Inhibit	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	24239807, 27707838, 27791205, 28366813, 29907693, 31289622		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	24239807	Inhibit	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	27707838, 27791205, 34728791, 37612508, 38117852, 39185402, 39967410, 40311680	Associate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	24239807, 36445063	Inhibit	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	28566766, 29496049, 35415876, 37355491, 37586363, 37667220, 38238314	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	27814372, 33006365	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	35177088	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma Merkel Cell	Merkel cell carcinoma	Pubtator	32482869	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Merkel Cell	Merkel cell carcinoma	Pubtator	36498833	Inhibit	★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	37195712	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	35983076, 36445063, 37120444, 37319163	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Small Cell	Small cell carcinoma	Pubtator	32068166, 35978199	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	32068166	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	30540933		★☆☆☆☆ Found in Text Mining only
Carnevale syndrome	Carnevale syndrome	Pubtator	37079538	Associate	★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	27705945		★☆☆☆☆ Found in Text Mining only
Cervical Intraepithelial Neoplasia	Cervical Intraepithelial Neoplasia	BEFREE	31658669		★☆☆☆☆ Found in Text Mining only
Cervix carcinoma	Cervix carcinoma	BEFREE	27705945		★☆☆☆☆ Found in Text Mining only
Chilblain lupus 1	Chilblain Lupus Erythematosus	BEFREE	27566796		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chilblain lupus 1	Chilblain Lupus Erythematosus	CTD_human_DG	27566796		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chilblain lupus 1	Chilblain lupus erythematosus	Pubtator	31866997, 32293470	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chromosomal Instability	Chromosomal instability	Pubtator	36923311, 37612508	Stimulate	★☆☆☆☆ Found in Text Mining only
Chromosomal Instability	Chromosomal instability	Pubtator	37806895, 38167338	Associate	★☆☆☆☆ Found in Text Mining only
Chronic Infantile Neurological, Cutaneous, and Articular Syndrome	Neurological, Cutaneous And Articular Syndrome	BEFREE	29638206		★☆☆☆☆ Found in Text Mining only
Colitis Ulcerative	Ulcerative colitis	Pubtator	36165492	Associate	★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	28763795		★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	26133168, 37108510, 38065948	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	27988520		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	31439450, 31869529, 35749909, 37355491, 37443289	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	35429245	Stimulate	★☆☆☆☆ Found in Text Mining only
Complete atrioventricular block	Complete Atrioventricular Block	BEFREE	30593207		★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	Pubtator	38466010	Associate	★☆☆☆☆ Found in Text Mining only
Cutis marmorata	Cutis marmorata	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dental Caries	Dental caries	Pubtator	34016129	Stimulate	★☆☆☆☆ Found in Text Mining only
Dermatomyositis	Dermatomyositis	BEFREE	26593864		★☆☆☆☆ Found in Text Mining only
Dermatomyositis	Dermatomyositis	Pubtator	36030554	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 1	Diabetes mellitus, type 1	Pubtator	32398023	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	36139069	Associate	★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down syndrome	Pubtator	34215848	Associate	★☆☆☆☆ Found in Text Mining only
Dystrophia unguium	Nail dystrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	32046461, 36509095	Associate	★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	Pubtator	32046461	Stimulate	★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	Pubtator	36509095	Inhibit	★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	25129146	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Factor X Deficiency	Factor x deficiency	Pubtator	31371933	Associate	★☆☆☆☆ Found in Text Mining only
Familial Chilblain lupus	Chilblain Lupus Erythematosus	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Fibrosis, Liver	Liver Fibrosis	BEFREE	30213555		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	31536342		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	37219874, 37931834, 38214828	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	31536342		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	36267817, 37219874	Associate	★☆☆☆☆ Found in Text Mining only
Head and Neck Neoplasms	Head and neck neoplasm	Pubtator	29496049, 37834346, 38147007	Associate	★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington disease	Pubtator	38498709	Associate	★☆☆☆☆ Found in Text Mining only
Hypersensitivity Immediate	Hypersensitivity	Pubtator	31866997, 33291536	Associate	★☆☆☆☆ Found in Text Mining only
Hypertension Pulmonary	Pulmonary hypertension	Pubtator	31144250	Associate	★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	37931834	Stimulate	★☆☆☆☆ Found in Text Mining only
Immune System Diseases	Immune system disease	Pubtator	36336725	Associate	★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	31283973		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	25581829		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	36445063	Associate	★☆☆☆☆ Found in Text Mining only
Intervertebral Disc Degeneration	Intervertebral disc disease	Pubtator	32546974	Stimulate	★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney disease	Pubtator	31144250, 33217613	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Failure, Acute	Kidney Failure	BEFREE	31521258		★☆☆☆☆ Found in Text Mining only
Leprosy	Leprosy	BEFREE	27553710		★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	28874664		★☆☆☆☆ Found in Text Mining only
Leukopenia	Leukopenia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	31740782		★☆☆☆☆ Found in Text Mining only
Lung diseases	Lung Diseases	BEFREE	30463976, 30886058		★☆☆☆☆ Found in Text Mining only
Lung Diseases	Lung disease	Pubtator	31144250, 33162473, 33833757	Associate	★☆☆☆☆ Found in Text Mining only
Lung Diseases Interstitial	Lung disease	Pubtator	31144250, 31969166, 32398023, 33162473, 33217613, 37884945, 40222637	Associate	★☆☆☆☆ Found in Text Mining only
Lung Diseases Interstitial	Lung disease	Pubtator	32602227	Stimulate	★☆☆☆☆ Found in Text Mining only
Lung Diseases, Interstitial	Lung Diseases	BEFREE	26584874, 29517585, 31626957		★☆☆☆☆ Found in Text Mining only
Lung Diseases, Interstitial	Lung Diseases	HPO_DG			★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	30297358, 33013881, 35273829, 36220070, 37167549	Associate	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	35794238, 35978045, 36150391	Inhibit	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus	Lupus Erythematosus	BEFREE	29547894, 29781188		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	25401470, 39306342, 40222637	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	37129502	Stimulate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Discoid	Lupus Erythematosus	BEFREE	29547894, 29781188		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	26593864, 29547894, 29781188		★☆☆☆☆ Found in Text Mining only
Lupus Vulgaris	Lupus Vulgaris	BEFREE	29547894, 29781188		★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	28176788	Inhibit	★☆☆☆☆ Found in Text Mining only
Lymphohistiocytosis Hemophagocytic	Hemophagocytic lymphohistiocytosis	Pubtator	38277122	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	28512240, 30194137		★☆☆☆☆ Found in Text Mining only
Macular Degeneration	Macular degeneration	Pubtator	31371933	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	24239807, 27707838, 27791205, 28366813, 29907693, 31289622, 31536342		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	30540933		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	30333318, 31371279		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	28674082		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	25521938, 27927967, 28069806, 28859978, 28921470, 29106411, 29127039, 29241549, 29322423, 29472271, 29622565, 29632707, 29769207, 30101273, 30559422, 30626434, 30844475, 30935414, 31118511, 31247511, 31355488, 31536342, 31679519, 31695799		★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	27705945		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	28763795		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	28818762, 29123960		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	25986168		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	31462408, 33827917, 35131084, 37612508, 37945588, 38239354, 39933900	Associate	★☆☆☆☆ Found in Text Mining only
Mesothelioma	Mesothelioma	Pubtator	35678717	Associate	★☆☆☆☆ Found in Text Mining only
Mesothelioma Malignant	Mesothelioma	Pubtator	35678717	Associate	★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	30297358, 34216619, 35177088, 36150391, 37236195	Stimulate	★☆☆☆☆ Found in Text Mining only
Mucocutaneous Lymph Node Syndrome	Kawasaki disease	Pubtator	34193364	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	29268089, 29268096		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple sclerosis	Pubtator	33291536	Associate	★☆☆☆☆ Found in Text Mining only
Mycosis Fungoides	Mycosis fungoides	Pubtator	35882970	Stimulate	★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	29106401		★☆☆☆☆ Found in Text Mining only
Myositis	Myositis	Pubtator	36030554	Stimulate	★☆☆☆☆ Found in Text Mining only
Myotonic Dystrophy	Myotonic dystrophy	Pubtator	37223012	Associate	★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Carcinoma	Nasopharyngeal carcinoma	Pubtator	30816302	Inhibit	★☆☆☆☆ Found in Text Mining only
Necrosis	Necrosis	Pubtator	36030554	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	24239807, 28069806, 28176788, 28921470, 29170400, 29363545, 29472271, 29900037, 30046165, 30194137, 30332631, 30518877, 30540940, 31015319, 31408442, 31642767, 31658669, 31679519, 31740782, 31771883		★☆☆☆☆ Found in Text Mining only
Nephrotic Syndrome	Nephrotic syndrome	Pubtator	37406004	Associate	★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	32169869	Associate	★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	34459078	Associate	★☆☆☆☆ Found in Text Mining only
Non-alcoholic Fatty Liver Disease	Non-Alcoholic Fatty Liver Disease	BEFREE	30213555		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	29087318		★☆☆☆☆ Found in Text Mining only
Oestrogen receptor positive breast cancer	Oestrogen Receptor Positive Breast Cancer	BEFREE	24239807		★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	31068249	Stimulate	★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	35799274	Associate	★☆☆☆☆ Found in Text Mining only
Osteopenia	Osteopenia	BEFREE	31487581		★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	BEFREE	31487581		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	28179534		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	28179534, 34216619, 35662245	Associate	★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	30540933		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	34138519, 38373690	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	30333318, 31371279		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	34203706, 34462421, 35773436, 37195712, 37330147, 37547756	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatitis	Pancreatitis	BEFREE	29425920		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	35657605	Associate	★☆☆☆☆ Found in Text Mining only
Peptic Ulcer	Peptic Ulcer	BEFREE	31700635		★☆☆☆☆ Found in Text Mining only
Peripheral Vascular Diseases	Peripheral vascular disease	Pubtator	33833757	Associate	★☆☆☆☆ Found in Text Mining only
Peritonitis	Peritonitis	Pubtator	35022662	Associate	★☆☆☆☆ Found in Text Mining only
Pheochromocytoma	Pheochromocytoma	Pubtator	35983076	Associate	★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	28674082		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	33899001, 37581614, 38057852, 40532290	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	37406004	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	27613991, 30463976		★☆☆☆☆ Found in Text Mining only
Respiratory Tract Infections	Respiratory system infectious disease	Pubtator	31144250	Associate	★☆☆☆☆ Found in Text Mining only
Septicemia	Septicemia	BEFREE	30820191		★☆☆☆☆ Found in Text Mining only
Skin Diseases	Skin disease	Pubtator	31144250	Associate	★☆☆☆☆ Found in Text Mining only
Skin lesion	Skin Lesion	BEFREE	30560109		★☆☆☆☆ Found in Text Mining only
Small cell carcinoma of lung	Lung carcinoma	BEFREE	30777870		★☆☆☆☆ Found in Text Mining only
Small Cell Lung Carcinoma	Small cell lung carcinoma	Pubtator	35794238, 35957613, 35978199, 39722014	Associate	★☆☆☆☆ Found in Text Mining only
Spastic Paraplegia Hereditary	Hereditary spastic paraplegia	Pubtator	36739287	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	28323387, 31771883		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	CTD_human_DG	25129146		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	GWASCAT_DG	25129146		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	29496049, 32768338, 34625078, 37834346, 38147007	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	29496049, 29769207		★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	BEFREE	30213555		★☆☆☆☆ Found in Text Mining only
STING-associated vasculopathy with onset in infancy	STING-ASSOCIATED VASCULOPATHY	BEFREE	25029335, 29728611, 30463976, 30796349, 31144250		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
STING-associated vasculopathy with onset in infancy	STING-ASSOCIATED VASCULOPATHY	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET	STING-ASSOCIATED VASCULOPATHY	BEFREE	25029335, 30463976, 30796349, 31144250		★☆☆☆☆ Found in Text Mining only
STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET	STING-ASSOCIATED VASCULOPATHY	CLINVAR_DG	25029335, 25401470, 26235147, 27613991, 28484079		★☆☆☆☆ Found in Text Mining only
STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET	STING-ASSOCIATED VASCULOPATHY	ORPHANET_DG	25029335		★☆☆☆☆ Found in Text Mining only
STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET	STING-ASSOCIATED VASCULOPATHY	GENOMICS_ENGLAND_DG	25029335, 25401470		★☆☆☆☆ Found in Text Mining only
STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET	STING-ASSOCIATED VASCULOPATHY	UNIPROT_DG	25029335, 25401470, 30842659		★☆☆☆☆ Found in Text Mining only
STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET	STING-ASSOCIATED VASCULOPATHY	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	28176788, 35611665, 39242811	Associate	★☆☆☆☆ Found in Text Mining only
Systemic Scleroderma	Scleroderma	BEFREE	26593864		★☆☆☆☆ Found in Text Mining only
Thrombocytosis	Thrombocytosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Thyroid Diseases	Thyroid disease	Pubtator	31866997	Associate	★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	31015319		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	31662325	Stimulate	★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	34583980, 39967410	Associate	★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	34116604, 36923311, 37670034	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	24614210, 33040406	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Diseases	Uterine polyp	Pubtator	34010983	Associate	★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular Diseases	BEFREE	25992765, 30560109, 31626957		★☆☆☆☆ Found in Text Mining only
Vascular System Injuries	Vascular system injury	Pubtator	25029335	Associate	★☆☆☆☆ Found in Text Mining only
Vasculitis	Vasculitis	BEFREE	26593864		★☆☆☆☆ Found in Text Mining only
Vasculitis	Vasculitis	Pubtator	31866997	Associate	★☆☆☆☆ Found in Text Mining only
Vesico-Ureteral Reflux	Vesicoureteral Reflux	BEFREE	29522291		★☆☆☆☆ Found in Text Mining only
WOLFRAM SYNDROME 2	Wolfram Syndrome	BEFREE	17846994		★☆☆☆☆ Found in Text Mining only