Gene Gene information from NCBI Gene database. Download as csv Download as pdf
Entrez ID	7297
Gene name	Tyrosine kinase 2
Gene symbol	TYK2
Synonyms (NCBI Gene)	IMD35JTK1
Chromosome	19
Chromosome location	19p13.2
Summary	This gene encodes a member of the tyrosine kinase and, more specifically, the Janus kinases (JAKs) protein families. This protein associates with the cytoplasmic domain of type I and type II cytokine receptors and promulgate cytokine signals by phosphoryl

16 Show/Hide all (16)

SNP ID	Visualize variation	Clinical significance	Consequence
rs2304258	C>T	Uncertain-significance, risk-factor	Upstream transcript variant, genic upstream transcript variant, 5 prime UTR variant
rs2304259	T>G	Uncertain-significance, risk-factor	Upstream transcript variant
rs17000728	C>T	Uncertain-significance, risk-factor	Upstream transcript variant, genic upstream transcript variant, 5 prime UTR variant
rs17000730	T>C	Uncertain-significance, risk-factor	Upstream transcript variant, genic upstream transcript variant, 5 prime UTR variant
rs144960992	A>G	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, genic upstream transcript variant, non coding transcript variant, upstream transcript variant, coding sequence variant
rs201025290	G>A,C	Pathogenic	Missense variant, coding sequence variant, stop gained, non coding transcript variant
rs770927552	CAAG>-	Pathogenic	5 prime UTR variant, genic upstream transcript variant, frameshift variant, coding sequence variant, non coding transcript variant
rs775578531	T>C	Likely-pathogenic	Splice acceptor variant, non coding transcript variant, genic downstream transcript variant
rs779037308	G>A,C	Likely-pathogenic	Stop gained, missense variant, coding sequence variant, genic downstream transcript variant, non coding transcript variant
rs869320745	CCTCCCTGG>-	Pathogenic	Inframe indel, stop gained, coding sequence variant, non coding transcript variant
rs879253731	C>A	Pathogenic	Stop gained, genic upstream transcript variant, coding sequence variant, non coding transcript variant
rs879253732	G>-	Pathogenic	Frameshift variant, genic upstream transcript variant, coding sequence variant, 5 prime UTR variant, non coding transcript variant
rs891696485	A>C,T	Risk-factor, uncertain-significance	Upstream transcript variant
rs953883300	C>T	Uncertain-significance, risk-factor	Upstream transcript variant
rs1555719963	G>-	Likely-pathogenic	Upstream transcript variant, non coding transcript variant, coding sequence variant, genic upstream transcript variant, frameshift variant
rs1599328119	C>T	Likely-pathogenic	Non coding transcript variant, splice acceptor variant, genic downstream transcript variant

62 Show/Hide all (62)

miRTarBase ID	miRNA	Experiments	Reference
MIRT023017	hsa-miR-124-3p	Microarray	18668037
MIRT1465602	hsa-miR-124	CLIP-seq
MIRT1465603	hsa-miR-1251	CLIP-seq
MIRT1465604	hsa-miR-1262	CLIP-seq
MIRT1465605	hsa-miR-1270	CLIP-seq
MIRT1465606	hsa-miR-1273f	CLIP-seq
MIRT1465607	hsa-miR-27a	CLIP-seq
MIRT1465608	hsa-miR-27b	CLIP-seq
MIRT1465609	hsa-miR-2861	CLIP-seq
MIRT1465610	hsa-miR-3165	CLIP-seq
MIRT1465611	hsa-miR-3714	CLIP-seq
MIRT1465612	hsa-miR-3910	CLIP-seq
MIRT1465613	hsa-miR-4257	CLIP-seq
MIRT1465614	hsa-miR-4305	CLIP-seq
MIRT1465615	hsa-miR-4433	CLIP-seq
MIRT1465616	hsa-miR-4683	CLIP-seq
MIRT1465617	hsa-miR-4701-3p	CLIP-seq
MIRT1465618	hsa-miR-506	CLIP-seq
MIRT1465619	hsa-miR-513a-5p	CLIP-seq
MIRT1465620	hsa-miR-541	CLIP-seq
MIRT1465621	hsa-miR-615-5p	CLIP-seq
MIRT1465622	hsa-miR-620	CLIP-seq
MIRT1465623	hsa-miR-654-5p	CLIP-seq
MIRT1921001	hsa-miR-3690	CLIP-seq
MIRT1921002	hsa-miR-4254	CLIP-seq
MIRT1921003	hsa-miR-4270	CLIP-seq
MIRT1921004	hsa-miR-4441	CLIP-seq
MIRT1921005	hsa-miR-4793-5p	CLIP-seq
MIRT1921001	hsa-miR-3690	CLIP-seq
MIRT1921002	hsa-miR-4254	CLIP-seq
MIRT1921003	hsa-miR-4270	CLIP-seq
MIRT1921004	hsa-miR-4441	CLIP-seq
MIRT1921005	hsa-miR-4793-5p	CLIP-seq
MIRT1921001	hsa-miR-3690	CLIP-seq
MIRT1921002	hsa-miR-4254	CLIP-seq
MIRT1921003	hsa-miR-4270	CLIP-seq
MIRT1921004	hsa-miR-4441	CLIP-seq
MIRT1921005	hsa-miR-4793-5p	CLIP-seq
MIRT1465602	hsa-miR-124	CLIP-seq
MIRT1465604	hsa-miR-1262	CLIP-seq
MIRT2360637	hsa-miR-1283	CLIP-seq
MIRT2360638	hsa-miR-1287	CLIP-seq
MIRT2360639	hsa-miR-3652	CLIP-seq
MIRT2360640	hsa-miR-371-3p	CLIP-seq
MIRT1465611	hsa-miR-3714	CLIP-seq
MIRT2360641	hsa-miR-371b-3p	CLIP-seq
MIRT1465612	hsa-miR-3910	CLIP-seq
MIRT2360642	hsa-miR-409-3p	CLIP-seq
MIRT2360643	hsa-miR-4430	CLIP-seq
MIRT2360644	hsa-miR-4446-3p	CLIP-seq
MIRT2360645	hsa-miR-4473	CLIP-seq
MIRT2360646	hsa-miR-4477b	CLIP-seq
MIRT2360647	hsa-miR-4492	CLIP-seq
MIRT2360648	hsa-miR-4498	CLIP-seq
MIRT2360649	hsa-miR-4671-3p	CLIP-seq
MIRT1465617	hsa-miR-4701-3p	CLIP-seq
MIRT2360650	hsa-miR-4710	CLIP-seq
MIRT2360651	hsa-miR-4749-3p	CLIP-seq
MIRT1465618	hsa-miR-506	CLIP-seq
MIRT2360652	hsa-miR-515-3p	CLIP-seq
MIRT2360653	hsa-miR-519e	CLIP-seq
MIRT2360654	hsa-miR-762	CLIP-seq

Transcription factor	Regulation	Reference
STAT3	Repression	18550668

70 Show/Hide all (70)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0004672	Function	Protein kinase activity	IEA
GO:0004713	Function	Protein tyrosine kinase activity	EXP	1386289, 8232552
GO:0004713	Function	Protein tyrosine kinase activity	IC	7543512
GO:0004713	Function	Protein tyrosine kinase activity	IDA	10542297
GO:0004713	Function	Protein tyrosine kinase activity	IEA
GO:0004713	Function	Protein tyrosine kinase activity	TAS	7528775
GO:0004715	Function	Non-membrane spanning protein tyrosine kinase activity	IBA
GO:0004715	Function	Non-membrane spanning protein tyrosine kinase activity	IDA	7526154, 7657660, 8232552, 8605876
GO:0004715	Function	Non-membrane spanning protein tyrosine kinase activity	IEA
GO:0004715	Function	Non-membrane spanning protein tyrosine kinase activity	TAS	2216457, 8232552
GO:0005131	Function	Growth hormone receptor binding	IBA
GO:0005131	Function	Growth hormone receptor binding	IPI	10502458
GO:0005515	Function	Protein binding	IPI	21516116, 22939624, 24704786, 25416956, 26175413, 29892012, 32296183, 32953130
GO:0005524	Function	ATP binding	IEA
GO:0005634	Component	Nucleus	IDA	10502458
GO:0005737	Component	Cytoplasm	IDA	10502458
GO:0005829	Component	Cytosol	IBA
GO:0005829	Component	Cytosol	TAS
GO:0005886	Component	Plasma membrane	IPI	11114383
GO:0005886	Component	Plasma membrane	TAS	34813358
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IDA	9020188, 28753426
GO:0006468	Process	Protein phosphorylation	TAS	2216457
GO:0006955	Process	Immune response	NAS	19088061
GO:0007259	Process	Cell surface receptor signaling pathway via JAK-STAT	IDA	7526154, 7657660, 7759950, 8605876, 23139419, 28753426
GO:0007259	Process	Cell surface receptor signaling pathway via JAK-STAT	IDA	7526154, 7657660, 8232552, 8605876
GO:0007259	Process	Cell surface receptor signaling pathway via JAK-STAT	IEA
GO:0007259	Process	Cell surface receptor signaling pathway via JAK-STAT	TAS	8232552
GO:0008283	Process	Cell population proliferation	IEA
GO:0009898	Component	Cytoplasmic side of plasma membrane	IC	7528775
GO:0016020	Component	Membrane	IEA
GO:0016301	Function	Kinase activity	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0019221	Process	Cytokine-mediated signaling pathway	IBA
GO:0019221	Process	Cytokine-mediated signaling pathway	IEA
GO:0019221	Process	Cytokine-mediated signaling pathway	TAS
GO:0019897	Component	Extrinsic component of plasma membrane	TAS	34813358
GO:0022407	Process	Regulation of cell-cell adhesion	IEA
GO:0030154	Process	Cell differentiation	IBA
GO:0031234	Component	Extrinsic component of cytoplasmic side of plasma membrane	IC	7543512
GO:0031234	Component	Extrinsic component of cytoplasmic side of plasma membrane	IEA
GO:0032729	Process	Positive regulation of type II interferon production	IDA	12023369, 19088061
GO:0032740	Process	Positive regulation of interleukin-17 production	NAS	16482511
GO:0032819	Process	Positive regulation of natural killer cell proliferation	IDA	19088061
GO:0035556	Process	Intracellular signal transduction	IBA
GO:0035556	Process	Intracellular signal transduction	IEA
GO:0035722	Process	Interleukin-12-mediated signaling pathway	IDA	7528775
GO:0038155	Process	Interleukin-23-mediated signaling pathway	IDA	7528775
GO:0038196	Process	Type III interferon-mediated signaling pathway	NAS	30936491
GO:0042022	Component	Interleukin-12 receptor complex	IPI	39111304
GO:0042102	Process	Positive regulation of T cell proliferation	IDA	11114383
GO:0042102	Process	Positive regulation of T cell proliferation	IEA
GO:0043235	Component	Receptor complex	IPI	21854986
GO:0046425	Process	Regulation of receptor signaling pathway via JAK-STAT	IEA
GO:0046427	Process	Positive regulation of receptor signaling pathway via JAK-STAT	IDA	7638186, 12023369
GO:0046634	Process	Regulation of alpha-beta T cell activation	IEA
GO:0051142	Process	Positive regulation of NK T cell proliferation	IDA	19088061
GO:0051142	Process	Positive regulation of NK T cell proliferation	NAS	19088061
GO:0060333	Process	Type II interferon-mediated signaling pathway	IDA	8232552
GO:0060337	Process	Type I interferon-mediated signaling pathway	IDA	8232552
GO:0060337	Process	Type I interferon-mediated signaling pathway	NAS	30936491
GO:0060337	Process	Type I interferon-mediated signaling pathway	TAS
GO:0060397	Process	Growth hormone receptor signaling pathway via JAK-STAT	IBA
GO:0070062	Component	Extracellular exosome	HDA	20458337
GO:0072536	Component	Interleukin-23 receptor complex	IPI	12023369
GO:0098586	Process	Cellular response to virus	NAS	30936491
GO:0140105	Process	Interleukin-10-mediated signaling pathway	IDA	7543512
GO:1900182	Process	Positive regulation of protein localization to nucleus	IDA	8605876, 26479788
GO:1900182	Process	Positive regulation of protein localization to nucleus	IDA	8605876, 26479788
GO:2000318	Process	Positive regulation of T-helper 17 type immune response	NAS	16482511

MIM	HGNC	e!Ensembl
176941	12440	ENSG00000105397

P29597

Protein name

Non-receptor tyrosine-protein kinase TYK2 (EC 2.7.10.2)

Protein function

Tyrosine kinase of the non-receptor type involved in numerous cytokines and interferons signaling, which regulates cell growth, development, cell migration, innate and adaptive immunity (PubMed:10542297, PubMed:10995743, PubMed:7657660, PubMed:7

PDB

3LXN , 3LXP , 3NYX , 3NZ0 , 3ZON , 4GFO , 4GIH , 4GII , 4GJ2 , 4GJ3 , 4GVJ , 4OLI , 4PO6 , 4PY1 , 4WOV , 5C01 , 5C03 , 5F1Z , 5F20 , 5TKD , 5WAL , 6AAM , 6DBK , 6DBM , 6NSL , 6NZE , 6NZF , 6NZH , 6NZP , 6NZQ , 6NZR , 6OVA , 6VNS , 6VNV , 6VNX , 6VNY , 6X8F , 6X8G , 7AX4 , 7K7O , 7K7Q , 7UYR , 7UYS , 7UYT , 7UYU , 8EXN , 8EYC , 8S98 , 8S99 , 8S9A , 8TB5

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF17887	Jak1_Phl	285 → 432	Jak1 pleckstrin homology-like domain	Domain
PF18377	FERM_F2	141 → 266	FERM F2 acyl-CoA binding protein-like domain	Domain
PF18379	FERM_F1	28 → 125	FERM F1 ubiquitin-like domain	Domain
PF07714	PK_Tyr_Ser-Thr	897 → 1169	Protein tyrosine and serine/threonine kinase	Domain
PF07714	PK_Tyr_Ser-Thr	589 → 866	Protein tyrosine and serine/threonine kinase	Domain

Tissue specificity

TISSUE SPECIFICITY: Observed in all cell lines analyzed. Expressed in a variety of lymphoid and non-lymphoid cell lines. {ECO:0000269|PubMed:2156206}.

Sequence

MPLRHWGMARGSKPVGDGAQPMAAMGGLKVLLHWAGPGGGEPWVTFSESSLTAEEVCIHI
AHKVGITPPCFNLFALFDAQAQVWLPPNHILEIPRDASLMLYFRIRFYFRNWHGMNPREP
AVYRCGPPGTEASSDQTAQGMQLLDPASFEYLFEQGKHEFVNDVASLWELSTEEEIHHFK
NESLGMAFLHLCHLALRHGIPLEEVAKKTSFKDCIPRSFRRHIRQHSALTRLRLRNVFRR
FLRDFQPGRLSQQMVMVKYLATLERLAPRFGTERVPVCHLRLLAQAEGEPCYIRDSGVAP
TDPGPESAAGPPTHEVLVTGTGGIQWWPVEEEVNKEEGSSGSSGRNPQASLFGKKAKAHK
AVGQPADRPREPLWAYFCDFRDITHVVLKEHCVSIHRQDNKCLELSLPSRAAALSFVSLV
DGYFRLTADSSHYLCHEVAPPRLVMSIRDGIHGPLLEPFVQAKLRPEDGLYLIHWSTSHP
YRLILTVAQRSQAPDGMQSLRLRKFPIEQQDGAFVLEGWGRSFPSVRELGAALQGCLLRA
GDDCFSLRRCCLPQPGETSNLIIMRGARASPRTLNLSQLSFHRVDQKEITQLSHLGQGTR
TNVYEGRLRVEGSGDPEEGKMDDEDPLVPGRDRGQELRVVLKVLDPSHHDIALAFYETAS
LMSQVSHTHLAFVHGVCVRGPENIMVTEYVEHGPLDVWLRRERGHVPMAWKMVVAQQLAS
ALSYLENKNLVHGNVCGRNILLARLGLAEGTSPFIKLSDPGVGLGALSREERVERIPWLA
PECLPGGANSLSTAMDKWGFGATLLEICFDGEAPLQSRSPSEKEHFYQRQHRLPEPSCPQ
LATLTSQCLTYEPTQRPSFRTILRDLTRLQPHNLADVLTVNPDSPASDPTVFHKRYLKKI
RDLGEGHFGKVSLYCYDPTNDGTGEMVAVKALKADCGPQHRSGWKQEIDILRTLYHEHII
KYKGCCEDQGEKSLQLVMEYVPLGSLRDYLPRHSIGLAQLLLFAQQICEGMAYLHAQHYI
HRDLAARNVLLDNDRLVKIGDFGLAKAVPEGHEYYRVREDGDSPVFWYAPECLKEYKFYY
ASDVWSFGVTLYELLTHCDSSQSPPTKFLELIGIAQGQMTVLRLTELLERGERLPRPDKC
PCEVYHLMKNCWETEASFRPTFENLIPILKTVHEKYQGQAPSVFSVC

Sequence length

1187

Interactions

View interactions

KEGG Pathway	Reactome Pathway
Necroptosis	Interleukin-6 signaling
Osteoclast differentiation	MAPK3 (ERK1) activation
Toll-like receptor signaling pathway	MAPK1 (ERK2) activation
NOD-like receptor signaling pathway	Other interleukin signaling
JAK-STAT signaling pathway	Interleukin-10 signaling
Th1 and Th2 cell differentiation	Interleukin-4 and Interleukin-13 signaling
Th17 cell differentiation	IL-6-type cytokine receptor ligand interactions
Toxoplasmosis	Interleukin-20 family signaling
Hepatitis C	Interleukin-35 Signalling
Hepatitis B	Interleukin-12 signaling
Measles	Interleukin-23 signaling
Influenza A	Interleukin-27 signaling
Human papillomavirus infection	Interferon alpha/beta signaling
Kaposi sarcoma-associated herpesvirus infection	Regulation of IFNA signaling
Herpes simplex virus 1 infection
Epstein-Barr virus infection
Coronavirus disease - COVID-19

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
Immunodeficiency 35	Likely pathogenic; Pathogenic	rs1568333687, rs2145175361, rs2145184643, rs777488795, rs869320745, rs2512496801, rs2512454201, rs759111483, rs781536408, rs2512551491, rs2512496407, rs879253731, rs879253732, rs201025290, rs770927552 View all (12 more)	RCV001379286 RCV001381281 RCV001926999 RCV002029631 RCV000144052 View all (22 more)	★★★★★ ★★★★★ 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 (60)
Acute myeloid leukemia	Benign; Likely benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANKYLOSING SPONDYLITIS	—	GWAS catalog	26974007	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ARTHRITIS, RHEUMATOID	—	CTD	23143596, 30224649	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISTIC DISORDER	—	CTD, Disgenet CTD, Disgenet	20957522	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOIMMUNE DISEASE	—	GWAS catalog	30595370	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOIMMUNE THYROID DISEASE	—	GWAS catalog	32581359	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BILIARY CIRRHOSIS	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BILIARY LIVER CIRRHOSIS	—	GWAS catalog	26394269, 34033851	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Likely benign; Benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CROHN DISEASE	—	CTD	21102463	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CROHN'S DISEASE	—	GWAS catalog	21102463, 26192919, 26974007, 33608531, 37156999	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CROHNS DISEASE OF LARGE BOWEL	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEPRESSED MOOD	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, INSULIN-DEPENDENT	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, TYPE 1	—	CTD	30224649	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ERYTHEMATOSQUAMOUS DERMATOSIS	—	GWAS catalog	39024449	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPOTHYROIDISM	—	GWAS catalog	30595370, 34594039, 36093044, 39067062, 39789286, 41238958	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Immunodeficiency	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INFLAMMATORY BOWEL DISEASE	—	GWAS catalog	21102463, 26192919, 33608531, 37156999, 38102678	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER CIRRHOSIS, BILIARY	—	CTD	22961000	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign; Likely benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MULTIPLE SCLEROSIS	—	CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog	19525955, 24076602, 31604244	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOSITIS	—	GWAS catalog	30573655	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OLIGOARTICULAR JUVENILE IDIOPATHIC ARTHRITIS	—	GWAS catalog	23603761	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS	—	GWAS catalog	37398645	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARANOIA	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARANOID DISORDERS	—	CTD	18438686	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POLYARTICULAR JUVENILE IDIOPATHIC ARTHRITIS, RHEUMATOID FACTOR NEGATIVE	—	GWAS catalog	23603761	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PRIMARY BILIARY CHOLANGITIS	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PRIMARY BILIARY CIRRHOSIS	—	GWAS catalog	22961000, 26394269, 34033851	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PRIMARY CUTANEOUS ANAPLASTIC LARGE CELL LYMPHOMA	—	Orphanet	25349176	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSORIASIS	—	CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog	20953190, 23143594, 26974007, 33385400, 39024449, 39789286, 39883516, 39885523	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSORIASIS VULGARIS	—	GWAS catalog	26626624, 34594039, 39024449	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSORIATIC ARTHRITIS	—	GWAS catalog	26626624, 35507331, 39024449	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Recurrent skin infections	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RHEUMATOID ARTHRITIS	—	Disgenet, GWAS catalog Disgenet, GWAS catalog	23143596, 24390342, 24532676, 30423114, 30573655, 33310728, 33686288, 34594039, 35470158, 36333501, 36762574, 37947095, 39024449	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SARCOIDOSIS	—	GWAS catalog	26051272, 40075078	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCLEROSING CHOLANGITIS	—	GWAS catalog	26974007	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEBORRHEIC DERMATITIS	—	GWAS catalog	39024449	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Squamous cell carcinoma of the head and neck	Conflicting classifications of pathogenicity	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SYSTEMIC JUVENILE IDIOPATHIC ARTHRITIS	—	GWAS catalog	23603761	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SYSTEMIC LUPUS ERYTHEMATOSUS	—	GWAS catalog	26502338, 27399966, 28714469, 30573655, 33272962, 36327221, 36750564, 36762574	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SYSTEMIC SCLERODERMA	—	GWAS catalog	30573655	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Conflicting classifications of pathogenicity	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYK2-related disorder	Likely benign; Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 1 DIABETES MELLITUS	—	GWAS catalog	19966805, 21829393, 25751624, 32005708, 39749473	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	19966805, 21829393, 25751624, 32005708, 33385400, 39749473	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYROSINE KINASE 2 DEFICIENCY	—	CTD, Disgenet CTD, Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ULCERATIVE COLITIS	—	GWAS catalog	26192919, 26974007, 33608531, 33686288, 37156999	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UNIPOLAR DEPRESSION	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Likely benign; Benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Virus-induced diabetes	Benign; Uncertain significance	ClinVar	—	★★★★★ ★★☆☆☆ 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 (215)
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	16867903		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of large intestine	Colorectal Cancer	UNIPROT_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Adult Acute Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	16867903		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adult Malignant Peripheral Nerve Sheath Tumor	Malignant Peripheral Nerve Sheath Tumor	BEFREE	31278855		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adult Oligodendroglioma	Oligodendroglioma	BEFREE	26493382		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adult type dermatomyositis	Dermatomyositis	BEFREE	28846454		★★★★★ ★☆☆☆☆ Found in Text Mining only
Aggressive Periodontitis	Aggressive Periodontitis	BEFREE	26472015		★★★★★ ★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	30478411	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ankylosing spondylitis	Ankylosing Spondylitis	GWASCAT_DG	26974007		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ankylosing spondylitis	Ankylosing Spondylitis	BEFREE	30353145		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Arthritis Juvenile	Juvenile arthritis	Pubtator	28990043	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Arthritis Psoriatic	Psoriatic arthritis	Pubtator	22298274, 39684939	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	25849893, 33583939, 35470158	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Arthritis, Psoriatic	Psoriatic Arthritis	BEFREE	27440135		★★★★★ ★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	BEFREE	26493382		★★★★★ ★☆☆☆☆ Found in Text Mining only
AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1	Autoimmune Diseases	GWASCAT_DG	30595370		★★★★★ ★☆☆☆☆ Found in Text Mining only
AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2	Autoimmune Diseases	GWASCAT_DG	30595370		★★★★★ ★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	16239216, 21354972, 21622231, 23359498, 24654603, 25849893, 26338038, 27807284, 28846454, 30113844, 30423093, 31288716, 31318208, 31603320		★★★★★ ★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	LHGDN	16239216		★★★★★ ★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune disease	Pubtator	16239216, 25849893, 31961910, 33542028, 33583939, 34225445, 35482673, 35711568	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	GWASCAT_DG	30595370		★★★★★ ★☆☆☆☆ Found in Text Mining only
Behcet Syndrome	Behcet Syndrome	BEFREE	24428981		★★★★★ ★☆☆☆☆ Found in Text Mining only
Biliary cirrhosis	Biliary cirrhosis	CTD_human_DG	22961000		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Biliary Cirrhosis, Primary, 1	Biliary cirrhosis	CTD_human_DG	22961000		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	22116632, 25104439, 27765041, 28096336		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	17934210, 22116632, 25104439	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Brittle diabetes	Brittle diabetes mellitus	CTD_human_DG	30224649		★★★★★ ★☆☆☆☆ Found in Text Mining only
Burkitt Lymphoma	Burkitt`s Lymphoma	BEFREE	7929242		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	31418417, 31485610	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	17573897, 17898043	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	BEFREE	29304122		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chagas Cardiomyopathy	Chagas Cardiomyopathy	BEFREE	29304122		★★★★★ ★☆☆☆☆ Found in Text Mining only
Childhood Acute Lymphoblastic Leukemia	Lymphoblastic Leukemia	BEFREE	16867903, 27733777		★★★★★ ★☆☆☆☆ Found in Text Mining only
Childhood Malignant Peripheral Nerve Sheath Tumor	Malignant Peripheral Nerve Sheath Tumor	BEFREE	31278855		★★★★★ ★☆☆☆☆ Found in Text Mining only
Childhood Oligodendroglioma	Oligodendroglioma	BEFREE	26493382		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cholangitis, Sclerosing	Cholangitis	GWASCAT_DG	26974007		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic myeloproliferative disorder	Myeloproliferative disorder	BEFREE	16867903, 21823028, 28668884		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cognitive Dysfunction	Cognition disorder	Pubtator	30478411	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colitis Ulcerative	Ulcerative colitis	Pubtator	36232773, 38102678	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	22121102, 25541970		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	8530527	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	22121102		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	22121102, 25541970, 29641532	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	17898043		★★★★★ ★☆☆☆☆ Found in Text Mining only
Critical Illness	Critical illness	Pubtator	33307546	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn disease	Pubtator	19249008	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Crohn Disease	Crohn Disease	CTD_human_DG	21102463		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Crohn Disease	Crohn Disease	GWASDB_DG	21102463		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Crohn Disease	Crohn Disease	GWASCAT_DG	21102463, 26192919, 26974007		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Crohn Disease	Crohn Disease	BEFREE	23408403, 25744728		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Crohn Disease	Crohn Disease	GENOMICS_ENGLAND_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Crohn`s disease of large bowel	Crohn`s Disease Of Large Bowel	CTD_human_DG	21102463		★★★★★ ★☆☆☆☆ Found in Text Mining only
Crohn`s disease of the ileum	Crohn`s Disease Of The Ileum	CTD_human_DG	21102463		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dermatitis	Dermatitis	BEFREE	24345760		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dermatitis Atopic	Atopic dermatitis	Pubtator	17088085, 39684939	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dermatitis, Atopic	Dermatitis	BEFREE	31707051		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dermatomyositis	Dermatomyositis	BEFREE	28846454		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	26288847, 28826655, 30621465		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	26288847, 28826655, 30621465		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	26288847, 28826655, 33799705	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 1	Diabetes mellitus, type 1	Pubtator	19966805, 26288847, 28826655, 32476252, 33799705, 34225445, 34858326, 36289205	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 1	Diabetes mellitus, type 1	Pubtator	37854597	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	26288847, 33799705	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	GWASCAT_DG	19966805, 21829393, 25751624		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	GWASDB_DG	19966805		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	26239055, 26288847, 28826655		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	CTD_human_DG	30224649		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus, Ketosis-Prone	Diabetes Mellitus	CTD_human_DG	30224649		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	26288847		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Sudden-Onset	Diabetes Mellitus	CTD_human_DG	30224649		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes, Autoimmune	Autoimmune Diabetes	CTD_human_DG	30224649		★★★★★ ★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down syndrome	Pubtator	27472900	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Eczema	Eczema	BEFREE	27615517, 31707051		★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	BEFREE	23000200		★★★★★ ★☆☆☆☆ Found in Text Mining only
Eosinophilic esophagitis	Eosinophilia	BEFREE	30578870		★★★★★ ★☆☆☆☆ Found in Text Mining only
Fibrosarcoma	Fibrosarcoma	BEFREE	15883164		★★★★★ ★☆☆☆☆ Found in Text Mining only
Gastrointestinal Neoplasms	Gastrointestinal neoplasm	Pubtator	38102678	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Gastrointestinal Stromal Tumors	Gastrointestinal stromal tumor	BEFREE	17259998, 18200631		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	26493382		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	26493382		★★★★★ ★☆☆☆☆ Found in Text Mining only
Head and Neck Neoplasms	Head and neck neoplasm	Pubtator	35711568	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hepatitis C Chronic	Hepatitis c	Pubtator	28704535	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyper-Immunoglobulin E Syndrome, Autosomal Recessive	Hyper-Immunoglobulin E Syndrome	BEFREE	19717292, 21970826, 22085750		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypercholesterolemia, Familial	Hypercholesterolemia	GWASDB_DG	22968135		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypothyroidism	Hypothyroidism	GWASCAT_DG	30595370		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IIeocolitis	Ileocolitis	CTD_human_DG	21102463		★★★★★ ★☆☆☆☆ Found in Text Mining only
Immune System Diseases	Immune System Diseases	BEFREE	23359498		★★★★★ ★☆☆☆☆ Found in Text Mining only
Immune System Diseases	Immune system disease	Pubtator	29304122	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	BEFREE	17098200		★★★★★ ★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	25744728, 25849893, 26304966, 30621465		★★★★★ ★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory bowel disease	Pubtator	25849893, 38102678	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	GWASCAT_DG	26192919		★★★★★ ★☆☆☆☆ Found in Text Mining only
Inflammatory dermatosis	Dermatitis	BEFREE	24345760		★★★★★ ★☆☆☆☆ Found in Text Mining only
Insulin Resistance	Diabetes mellitus, type 2	Pubtator	33799705	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Juvenile arthritis	Arthritis	BEFREE	28990043		★★★★★ ★☆☆☆☆ Found in Text Mining only
Juvenile pauciarticular chronic arthritis	Pauciarticular chronic arthritis	GWASCAT_DG	23603761		★★★★★ ★☆☆☆☆ Found in Text Mining only
Juvenile-Onset Still Disease	Still Disease	GWASCAT_DG	23603761		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ki-1+ Anaplastic Large Cell Lymphoma	Anaplastic Lymphoma	BEFREE	30131584		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leprosy	Leprosy	Pubtator	28842327	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	15578097		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	18270328, 31350825	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	30219077, 31418417		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis Biliary	Liver cirrhosis	Pubtator	22961000	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	24833526	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus	Lupus Erythematosus	BEFREE	18781962		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Cutaneous	Cutaneous lupus erythematosus	Pubtator	19758313	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Discoid	Discoid lupus erythematosus	Pubtator	19758313	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	15657875, 19442287, 19966805, 22046141, 25849893, 29059182, 29475858, 30777133, 31434951, 34419106, 35482673, 36327221	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Discoid	Lupus Erythematosus	BEFREE	18781962		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	15657875, 17384181, 18781962, 19440814, 19567624, 19966805, 21179067, 22046141, 22592861, 24654603, 25652333, 25849893, 26294277, 29475858, 30171347, 30621465, 31082500, 31434951 View all (3 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	LHGDN	17384181		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	GWASCAT_DG	26502338, 27399966, 28714469, 30573655		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lupus Vulgaris	Lupus Vulgaris	BEFREE	18781962		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphohistiocytosis Hemophagocytic	Hemophagocytic lymphohistiocytosis	Pubtator	38183241	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphoid leukemia	Lymphoid leukemia	BEFREE	15578097		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	15578097, 25349176, 28716895, 30131584		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	Pubtator	25349176, 29504848	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphomatoid Papulosis	Lymphomatoid Papulosis	ORPHANET_DG	25349176		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphomatoid papulosis	Lymphomatoid Papulosis	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphopenia	Lymphopenia	BEFREE	29725107		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphoproliferative Disorders	Lymphoproliferative Disorder	BEFREE	25349176		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphoproliferative Disorders	Lymphoproliferative syndrome	Pubtator	25349176	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	BEFREE	20124106		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Major Depressive Disorder	Mental Depression	PSYGENET_DG	20124106		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant neoplasm of breast	Breast Cancer	BEFREE	22116632, 25104439, 27765041, 28096336		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	21823028, 27774822, 27774824, 27875628, 29738483, 31694222		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Peripheral Nerve Sheath Tumor	Malignant Peripheral Nerve Sheath Tumor	BEFREE	27875628, 31278855		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	22121102, 25541970		★★★★★ ★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	28716895		★★★★★ ★☆☆☆☆ Found in Text Mining only
Melanoma Cutaneous Malignant	Melanoma	Pubtator	29641532	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Meningioma	Meningioma	BEFREE	10470819		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mild cognitive disorder	Cognitive disorder	BEFREE	30478411		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mucocutaneous Lymph Node Syndrome	Kawasaki disease	BEFREE	28167306		★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	19293837, 19525955, 19865102, 19888296, 19966805, 20112030, 21354972, 22744673, 24654603		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Multiple Sclerosis	Multiple sclerosis	Pubtator	19293837, 19865102, 19888296, 19966805, 22744673	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Multiple Sclerosis	Multiple Sclerosis	CTD_human_DG	19525955		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Multiple Sclerosis	Multiple Sclerosis	GWASCAT_DG	24076602		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Multiple Sclerosis, Acute Fulminating	Multiple Sclerosis	CTD_human_DG	19525955		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myeloproliferative disease	Myeloproliferative disorder	BEFREE	16867903, 21823028, 28668884		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myositis	Myositis	GWASCAT_DG	30573655		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myxoma	Myxoma	BEFREE	19254804		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Carcinoma	Nasopharyngeal carcinoma	Pubtator	37023940	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	15578097, 17259998, 21622231, 25349176, 26631911, 28096336, 28927044, 30131584, 30718299, 8642873		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nephrotic Syndrome	Nephrotic syndrome	Pubtator	22252769	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurofibromatosis 1	Neurofibromatosis	BEFREE	27875628		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurofibrosarcoma	Neurofibrosarcoma	Pubtator	27875628	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	23217260		★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	25747354	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Oligoarticular Juvenile Idiopathic Arthritis	Oligoarticular Arthritis	GWASDB_DG	23603761		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Oligoarticular Juvenile Idiopathic Arthritis	Oligoarticular Arthritis	GWASCAT_DG	23603761		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
oligodendroglioma	Oligodendroglioma	BEFREE	26493382		★★★★★ ★☆☆☆☆ Found in Text Mining only
Paranoia	Paranoia	CTD_human_DG	18438686		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Polyarticular Juvenile Idiopathic Arthritis, Rheumatoid Factor Negative	Seronegative polyarthritis	GWASCAT_DG	23603761		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Polycythemia Vera	Polycythemia Vera	BEFREE	16239216, 16879014, 21823028		★★★★★ ★☆☆☆☆ Found in Text Mining only
Polycythemia Vera	Polycythemia vera	Pubtator	16239216	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Polymyositis	Polymyositis	BEFREE	28846454		★★★★★ ★☆☆☆☆ Found in Text Mining only
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma	Lymphoblastic Leukemia	BEFREE	23471820, 28295194		★★★★★ ★☆☆☆☆ Found in Text Mining only
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma	Lymphoblastic Leukemia	CTD_human_DG	23471820		★★★★★ ★☆☆☆☆ Found in Text Mining only
Primary biliary cirrhosis	Biliary Cirrhosis	CTD_human_DG	22961000		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Primary biliary cirrhosis	Biliary Cirrhosis	GWASCAT_DG	22961000, 26394269		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Primary biliary cirrhosis	Biliary Cirrhosis	GWASDB_DG	22961000		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Primary Cutaneous Anaplastic Large Cell Lymphoma	Anaplastic Lymphoma	ORPHANET_DG	25349176		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Primary cutaneous anaplastic large cell lymphoma	Anaplastic Lymphoma	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Primary immune deficiency disorder	immunodeficiency	BEFREE	17098200, 29725107		★★★★★ ★☆☆☆☆ Found in Text Mining only
Primary Myelofibrosis	Myelofibrosis	BEFREE	16879014		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	10660600, 29641532	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	LHGDN	17920038		★★★★★ ★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	GWASCAT_DG	20953190, 23143594, 26974007		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Psoriasis	Psoriasis	GWASDB_DG	20953190, 23143594		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Psoriasis	Psoriasis	CTD_human_DG	20953190		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Psoriasis	Psoriasis	Pubtator	22298274, 26613086, 31972249, 35482673, 39684939	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Psoriasis	Psoriasis	BEFREE	22482804, 24345760, 25156366, 26613086, 26780035, 27976820, 28830649, 29728633, 30205746, 30621465, 31603320		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Psoriasis vulgaris	Psoriasis vulgaris	GWASCAT_DG	26626624		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pustulosis of Palms and Soles	Palmoplantar Pustules	CTD_human_DG	20953190		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pyoderma Gangrenosum	Pyoderma Gangrenosum	BEFREE	27711196		★★★★★ ★☆☆☆☆ Found in Text Mining only
Rectal Carcinoma	Rectal Carcinoma	BEFREE	22121102		★★★★★ ★☆☆☆☆ Found in Text Mining only
Regional enteritis	Crohn Disease	CTD_human_DG	21102463		★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	17898043		★★★★★ ★☆☆☆☆ Found in Text Mining only
Respiratory Tract Infections	Respiratory system infectious disease	Pubtator	35212764	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	17599733, 20724918, 25147926, 25849893, 27440135, 30621465, 30899276, 31118190, 31288716		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Rheumatoid Arthritis	Rheumatoid arthritis	GWASDB_DG	23143596, 24390342		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Rheumatoid Arthritis	Rheumatoid arthritis	CTD_human_DG	23143596, 30224649		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Rheumatoid Arthritis	Rheumatoid arthritis	GWASCAT_DG	23143596, 24390342, 24532676, 30423114, 30573655		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Rheumatoid Arthritis, Systemic Juvenile	Rheumatoid arthritis	GWASCAT_DG	23603761		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sarcoidosis	Sarcoidosis	BEFREE	17937105		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoidosis	Sarcoidosis	LHGDN	17937105		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoidosis	Sarcoidosis	GWASCAT_DG	26051272		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Sarcoma	BEFREE	31278855		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Scleroderma Systemic	Systemic sclerosis	Pubtator	34248934, 39684939	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Secondary Biliary Cholangitis	Biliary Cholangitis	CTD_human_DG	22961000		★★★★★ ★☆☆☆☆ Found in Text Mining only
Septicemia	Septicemia	BEFREE	28883754		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sezary Syndrome	Sezary syndrome	Pubtator	27039262	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Sjogren's Syndrome	Sjogren syndrome	Pubtator	29504848, 35896530	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	35711568	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	32993565	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	33083484	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Systemic onset juvenile chronic arthritis	Arthritis	GWASCAT_DG	23603761		★★★★★ ★☆☆☆☆ Found in Text Mining only
Systemic Scleroderma	Scleroderma	BEFREE	26338038		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Systemic Scleroderma	Scleroderma	GWASCAT_DG	30573655		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TARSAL-CARPAL COALITION SYNDROME	Tarsal-Carpal Coalition Syndrome	BEFREE	11280796		★★★★★ ★☆☆☆☆ Found in Text Mining only
Tyrosine Kinase 2 Deficiency	Immunodeficiency	BEFREE	17088085, 27615517		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Tyrosine Kinase 2 Deficiency	Immunodeficiency	CLINVAR_DG	17088085, 22402565, 26304966		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Tyrosine Kinase 2 Deficiency	Immunodeficiency	ORPHANET_DG	17088085, 17521577		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Tyrosine Kinase 2 Deficiency	Immunodeficiency	GENOMICS_ENGLAND_DG	26304966		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Tyrosine Kinase 2 Deficiency	Tyrosine kinase 2 deficiency	Pubtator	29725107	Inhibit	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Tyrosine Kinase 2 Deficiency	Tyrosine kinase 2 deficiency	Pubtator	29725107, 36094518	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Tyrosine Kinase 2 Deficiency	Immunodeficiency	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ulcerative Colitis	Ulcerative colitis	BEFREE	25744728		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ulcerative Colitis	Ulcerative colitis	GWASCAT_DG	26192919, 26974007		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Unipolar Depression	Mental Depression	PSYGENET_DG	20124106		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveitis	Uveitis	Pubtator	33503442	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Uveitis Posterior	Uveitis	Pubtator	32707200	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Vasculitis	Vasculitis	BEFREE	28167306		★★★★★ ★☆☆☆☆ Found in Text Mining only
Well Differentiated Oligodendroglioma	Oligodendroglioma	BEFREE	26493382		★★★★★ ★☆☆☆☆ Found in Text Mining only

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathways	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
STAT4	11	["Psoriatic arthritis","Autoimmune disease","Autoimmune thyroid disease","Biliary cirrhosis","Liver cirrhosis","Juvenile idiopathic arthritis","Oligoarticular juvenile idiopathic arthritis","Myositis","Polyarticular juvenile idiopathic arthritis","Biliary cholangitis","Systemic sclerosis"]	8	["Necroptosis","JAK-STAT signaling pathway","Th1 and Th2 cell differentiation","Hepatitis B","Interleukin-35 Signalling","Interleukin-20 family signaling","Interleukin-23 signaling","Interleukin-12 signaling"]	17	["CTD (Rheumatoid arthritis)","GWAS catalog (Autoimmune disease)","GWAS catalog (Autoimmune thyroid disease)","Disgenet (Biliary cirrhosis)","GWAS catalog (Biliary cirrhosis)","GWAS catalog (Juvenile idiopathic arthritis)","CTD (Liver cirrhosis)","Disgenet (Multiple sclerosis)","CTD (Multiple sclerosis)","GWAS catalog (Myositis)","GWAS catalog (Oligoarticular juvenile idiopathic arthritis)","GWAS catalog (Polyarticular juvenile idiopathic arthritis)"]
STAT1	5	["Liver cirrhosis","Immunodeficiency","Juvenile idiopathic arthritis","Oligoarticular juvenile idiopathic arthritis","Polyarticular juvenile idiopathic arthritis"]	23	["Necroptosis","Osteoclast differentiation","Toll-like receptor signaling pathway","NOD-like receptor signaling pathway","JAK-STAT signaling pathway","Th1 and Th2 cell differentiation","Th17 cell differentiation","Toxoplasmosis","Hepatitis C","Hepatitis B","Measles","Influenza A"]	8	["CTD (Rheumatoid arthritis)","HPO (Immunodeficiency)","ClinVar (Immunodeficiency)","GWAS catalog (Juvenile idiopathic arthritis)","CTD (Liver cirrhosis)","GWAS catalog (Oligoarticular juvenile idiopathic arthritis)","GWAS catalog (Polyarticular juvenile idiopathic arthritis)","Disgenet (Rheumatoid arthritis)"]
IL23R	10	["Psoriatic arthritis","Autoimmune disease","Autoimmune thyroid disease","Erythematosquamous dermatosis","Juvenile idiopathic arthritis","Psoriasis vulgaris","Sarcoidosis","Sclerosing cholangitis","Seborrheic dermatitis","Systemic sclerosis"]	4	["JAK-STAT signaling pathway","Th17 cell differentiation","Interleukin-4 and Interleukin-13 signaling","Interleukin-23 signaling"]	16	["GWAS catalog (Ankylosing spondylitis)","GWAS catalog (Autoimmune disease)","GWAS catalog (Autoimmune thyroid disease)","CTD (Crohn disease)","Disgenet (Crohn disease)","GWAS catalog (Erythematosquamous dermatosis)","GWAS catalog (Juvenile idiopathic arthritis)","Disgenet (Multiple sclerosis)","Disgenet (Psoriasis)","CTD (Psoriasis)","GWAS catalog (Psoriasis vulgaris)","GWAS catalog (Psoriatic arthritis)"]
IL2RA	11	["Autoimmune disease","Autoimmune thyroid disease","Depression","Erythematosquamous dermatosis","Immunodeficiency","Juvenile idiopathic arthritis","Oligoarticular juvenile idiopathic arthritis","Polyarticular juvenile idiopathic arthritis","Psoriasis vulgaris","Sclerosing cholangitis","Seborrheic dermatitis"]	4	["JAK-STAT signaling pathway","Th1 and Th2 cell differentiation","Th17 cell differentiation","Measles"]	20	["GWAS catalog (Ankylosing spondylitis)","CTD (Rheumatoid arthritis)","GWAS catalog (Autoimmune disease)","GWAS catalog (Autoimmune thyroid disease)","Disgenet (Depression)","CTD (Crohn disease)","Disgenet (Crohn disease)","Disgenet (Diabetes mellitus type 1)","CTD (Diabetes mellitus type 1)","GWAS catalog (Erythematosquamous dermatosis)","HPO (Immunodeficiency)","GWAS catalog (Juvenile idiopathic arthritis)"]
UBE2L3	7	["Autoimmune disease","Juvenile idiopathic arthritis","Oligoarticular juvenile idiopathic arthritis","Myositis","Polyarticular juvenile idiopathic arthritis","Psoriasis vulgaris","Sclerosing cholangitis"]	0	[]	8	["GWAS catalog (Ankylosing spondylitis)","GWAS catalog (Autoimmune disease)","GWAS catalog (Juvenile idiopathic arthritis)","GWAS catalog (Myositis)","GWAS catalog (Oligoarticular juvenile idiopathic arthritis)","GWAS catalog (Polyarticular juvenile idiopathic arthritis)","GWAS catalog (Psoriasis vulgaris)","GWAS catalog (Sclerosing cholangitis)"]

TYK2 (tyrosine kinase 2)

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