Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	5771
Gene name	Protein tyrosine phosphatase non-receptor type 2
Gene symbol	PTPN2
Synonyms (NCBI Gene)	PTN2PTPTTC-PTPTC45TC48TCELLPTPTCPTP
Chromosome	18
Chromosome location	18p11.21
Summary	The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. Members of the PTP family share a highly conserved catalytic motif, which is essential for the catalytic activity. PTPs are known to be signaling molecules that

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Show/Hide all (227)

miRTarBase ID	miRNA	Experiments	Reference
MIRT054248	hsa-miR-210-3p	ChipLuciferase reporter assayQRTPCRWestern blot	23579275
MIRT450163	hsa-miR-1264	PAR-CLIP	22100165
MIRT450162	hsa-miR-520d-5p	PAR-CLIP	22100165
MIRT450161	hsa-miR-524-5p	PAR-CLIP	22100165
MIRT450163	hsa-miR-1264	HITS-CLIP	27418678
MIRT450163	hsa-miR-1264	HITS-CLIP	27418678
MIRT450163	hsa-miR-1264	PAR-CLIP	22100165
MIRT450162	hsa-miR-520d-5p	PAR-CLIP	22100165
MIRT450161	hsa-miR-524-5p	PAR-CLIP	22100165
MIRT1275415	hsa-miR-105	CLIP-seq
MIRT1275416	hsa-miR-1297	CLIP-seq
MIRT1275417	hsa-miR-1307	CLIP-seq
MIRT1275418	hsa-miR-205	CLIP-seq
MIRT1275419	hsa-miR-26a	CLIP-seq
MIRT1275420	hsa-miR-26b	CLIP-seq
MIRT1275421	hsa-miR-3145-3p	CLIP-seq
MIRT1275422	hsa-miR-3148	CLIP-seq
MIRT1275423	hsa-miR-3671	CLIP-seq
MIRT1275424	hsa-miR-4284	CLIP-seq
MIRT1275425	hsa-miR-4465	CLIP-seq
MIRT1275426	hsa-miR-4468	CLIP-seq
MIRT1275427	hsa-miR-4496	CLIP-seq
MIRT1275428	hsa-miR-4532	CLIP-seq
MIRT1275429	hsa-miR-4638-5p	CLIP-seq
MIRT1275430	hsa-miR-4760-3p	CLIP-seq
MIRT1275431	hsa-miR-4772-3p	CLIP-seq
MIRT1275432	hsa-miR-4775	CLIP-seq
MIRT1275433	hsa-miR-501-3p	CLIP-seq
MIRT1275434	hsa-miR-502-3p	CLIP-seq
MIRT1275435	hsa-miR-548ae	CLIP-seq
MIRT1275436	hsa-miR-548aj	CLIP-seq
MIRT1275437	hsa-miR-548am	CLIP-seq
MIRT1275438	hsa-miR-548x	CLIP-seq
MIRT1275439	hsa-miR-590-3p	CLIP-seq
MIRT1275440	hsa-miR-607	CLIP-seq
MIRT1275441	hsa-miR-651	CLIP-seq
MIRT1275442	hsa-miR-664	CLIP-seq
MIRT1275443	hsa-miR-767-5p	CLIP-seq
MIRT1275444	hsa-miR-155	CLIP-seq
MIRT1275445	hsa-miR-548l	CLIP-seq
MIRT1275446	hsa-miR-548n	CLIP-seq
MIRT1275447	hsa-miR-1180	CLIP-seq
MIRT1275448	hsa-miR-1203	CLIP-seq
MIRT1275449	hsa-miR-1294	CLIP-seq
MIRT1275450	hsa-miR-1827	CLIP-seq
MIRT1275451	hsa-miR-216a	CLIP-seq
MIRT1275452	hsa-miR-216b	CLIP-seq
MIRT1275453	hsa-miR-30a	CLIP-seq
MIRT1275454	hsa-miR-30b	CLIP-seq
MIRT1275455	hsa-miR-30c	CLIP-seq
MIRT1275456	hsa-miR-30d	CLIP-seq
MIRT1275457	hsa-miR-30e	CLIP-seq
MIRT1275458	hsa-miR-331-3p	CLIP-seq
MIRT1275459	hsa-miR-338-5p	CLIP-seq
MIRT1275460	hsa-miR-34a	CLIP-seq
MIRT1275461	hsa-miR-34c-5p	CLIP-seq
MIRT1275462	hsa-miR-3907	CLIP-seq
MIRT1275463	hsa-miR-4308	CLIP-seq
MIRT1275464	hsa-miR-431	CLIP-seq
MIRT1275465	hsa-miR-4316	CLIP-seq
MIRT1275466	hsa-miR-4417	CLIP-seq
MIRT1275467	hsa-miR-4481	CLIP-seq
MIRT1275468	hsa-miR-4495	CLIP-seq
MIRT1275469	hsa-miR-449a	CLIP-seq
MIRT1275470	hsa-miR-449b	CLIP-seq
MIRT1275471	hsa-miR-4664-3p	CLIP-seq
MIRT1275472	hsa-miR-4677-3p	CLIP-seq
MIRT1275473	hsa-miR-4698	CLIP-seq
MIRT1275474	hsa-miR-4735-5p	CLIP-seq
MIRT1275475	hsa-miR-4745-5p	CLIP-seq
MIRT1275476	hsa-miR-4764-5p	CLIP-seq
MIRT1275477	hsa-miR-495	CLIP-seq
MIRT1275478	hsa-miR-507	CLIP-seq
MIRT1275479	hsa-miR-518d-5p	CLIP-seq
MIRT1275480	hsa-miR-519b-5p	CLIP-seq
MIRT1275481	hsa-miR-519c-5p	CLIP-seq
MIRT1275482	hsa-miR-520c-5p	CLIP-seq
MIRT1275483	hsa-miR-526a	CLIP-seq
MIRT1275484	hsa-miR-548a-5p	CLIP-seq
MIRT1275485	hsa-miR-548ab	CLIP-seq
MIRT1275486	hsa-miR-548ac	CLIP-seq
MIRT1275435	hsa-miR-548ae	CLIP-seq
MIRT1275436	hsa-miR-548aj	CLIP-seq
MIRT1275487	hsa-miR-548ak	CLIP-seq
MIRT1275437	hsa-miR-548am	CLIP-seq
MIRT1275488	hsa-miR-548b-5p	CLIP-seq
MIRT1275489	hsa-miR-548c-5p	CLIP-seq
MIRT1275490	hsa-miR-548d-3p	CLIP-seq
MIRT1275491	hsa-miR-548d-5p	CLIP-seq
MIRT1275492	hsa-miR-548h	CLIP-seq
MIRT1275493	hsa-miR-548i	CLIP-seq
MIRT1275494	hsa-miR-548j	CLIP-seq
MIRT1275495	hsa-miR-548w	CLIP-seq
MIRT1275438	hsa-miR-548x	CLIP-seq
MIRT1275496	hsa-miR-548y	CLIP-seq
MIRT1275497	hsa-miR-548z	CLIP-seq
MIRT1275498	hsa-miR-557	CLIP-seq
MIRT1275499	hsa-miR-559	CLIP-seq
MIRT1275500	hsa-miR-561	CLIP-seq
MIRT1275501	hsa-miR-578	CLIP-seq
MIRT1275502	hsa-miR-643	CLIP-seq
MIRT2081102	hsa-miR-192	CLIP-seq
MIRT2081103	hsa-miR-215	CLIP-seq
MIRT2081104	hsa-miR-223	CLIP-seq
MIRT2081105	hsa-miR-33a	CLIP-seq
MIRT2081106	hsa-miR-33b	CLIP-seq
MIRT2081107	hsa-miR-3923	CLIP-seq
MIRT2081108	hsa-miR-4454	CLIP-seq
MIRT2081109	hsa-miR-4697-3p	CLIP-seq
MIRT2081110	hsa-miR-4707-3p	CLIP-seq
MIRT2081111	hsa-miR-4731-5p	CLIP-seq
MIRT2081112	hsa-miR-935	CLIP-seq
MIRT1275449	hsa-miR-1294	CLIP-seq
MIRT2306989	hsa-miR-138	CLIP-seq
MIRT1275450	hsa-miR-1827	CLIP-seq
MIRT2306990	hsa-miR-22	CLIP-seq
MIRT2306991	hsa-miR-2276	CLIP-seq
MIRT2306992	hsa-miR-298	CLIP-seq
MIRT1275453	hsa-miR-30a	CLIP-seq
MIRT1275454	hsa-miR-30b	CLIP-seq
MIRT1275455	hsa-miR-30c	CLIP-seq
MIRT1275456	hsa-miR-30d	CLIP-seq
MIRT1275457	hsa-miR-30e	CLIP-seq
MIRT2306993	hsa-miR-3158-5p	CLIP-seq
MIRT2306994	hsa-miR-3182	CLIP-seq
MIRT1275462	hsa-miR-3907	CLIP-seq
MIRT2306995	hsa-miR-4282	CLIP-seq
MIRT1275465	hsa-miR-4316	CLIP-seq
MIRT2306996	hsa-miR-4456	CLIP-seq
MIRT1275472	hsa-miR-4677-3p	CLIP-seq
MIRT1275431	hsa-miR-4772-3p	CLIP-seq
MIRT1275477	hsa-miR-495	CLIP-seq
MIRT2306997	hsa-miR-518a-5p	CLIP-seq
MIRT2306998	hsa-miR-527	CLIP-seq
MIRT2306999	hsa-miR-541	CLIP-seq
MIRT2307000	hsa-miR-544	CLIP-seq
MIRT2307001	hsa-miR-548m	CLIP-seq
MIRT1275500	hsa-miR-561	CLIP-seq
MIRT2307002	hsa-miR-654-5p	CLIP-seq
MIRT2393224	hsa-miR-106a	CLIP-seq
MIRT2393225	hsa-miR-106b	CLIP-seq
MIRT2393226	hsa-miR-125a-3p	CLIP-seq
MIRT2393227	hsa-miR-150	CLIP-seq
MIRT2393228	hsa-miR-17	CLIP-seq
MIRT2393229	hsa-miR-1913	CLIP-seq
MIRT2393230	hsa-miR-20a	CLIP-seq
MIRT2393231	hsa-miR-20b	CLIP-seq
MIRT2393232	hsa-miR-302a	CLIP-seq
MIRT2393233	hsa-miR-302b	CLIP-seq
MIRT2393234	hsa-miR-302c	CLIP-seq
MIRT2393235	hsa-miR-302d	CLIP-seq
MIRT2393236	hsa-miR-302e	CLIP-seq
MIRT2393237	hsa-miR-3157-5p	CLIP-seq
MIRT2393238	hsa-miR-324-3p	CLIP-seq
MIRT2393239	hsa-miR-372	CLIP-seq
MIRT2393240	hsa-miR-373	CLIP-seq
MIRT2393241	hsa-miR-3934	CLIP-seq
MIRT2393242	hsa-miR-4438	CLIP-seq
MIRT2081111	hsa-miR-4731-5p	CLIP-seq
MIRT2393243	hsa-miR-5095	CLIP-seq
MIRT2393244	hsa-miR-512-3p	CLIP-seq
MIRT2393245	hsa-miR-519d	CLIP-seq
MIRT2393246	hsa-miR-520a-3p	CLIP-seq
MIRT2393247	hsa-miR-520b	CLIP-seq
MIRT2393248	hsa-miR-520c-3p	CLIP-seq
MIRT2393249	hsa-miR-520d-3p	CLIP-seq
MIRT2393250	hsa-miR-520e	CLIP-seq
MIRT2393251	hsa-miR-520g	CLIP-seq
MIRT2393252	hsa-miR-520h	CLIP-seq
MIRT2393253	hsa-miR-764	CLIP-seq
MIRT2393254	hsa-miR-93	CLIP-seq
MIRT2457430	hsa-miR-122	CLIP-seq
MIRT2457431	hsa-miR-1249	CLIP-seq
MIRT2457432	hsa-miR-1273f	CLIP-seq
MIRT2457433	hsa-miR-1289	CLIP-seq
MIRT1275416	hsa-miR-1297	CLIP-seq
MIRT1275417	hsa-miR-1307	CLIP-seq
MIRT2457434	hsa-miR-143	CLIP-seq
MIRT2457435	hsa-miR-1976	CLIP-seq
MIRT1275419	hsa-miR-26a	CLIP-seq
MIRT1275420	hsa-miR-26b	CLIP-seq
MIRT2457436	hsa-miR-3064-5p	CLIP-seq
MIRT2457437	hsa-miR-3125	CLIP-seq
MIRT2457438	hsa-miR-3198	CLIP-seq
MIRT2457439	hsa-miR-335	CLIP-seq
MIRT2081105	hsa-miR-33a	CLIP-seq
MIRT2081106	hsa-miR-33b	CLIP-seq
MIRT2457440	hsa-miR-3914	CLIP-seq
MIRT2457441	hsa-miR-3916	CLIP-seq
MIRT2457442	hsa-miR-3928	CLIP-seq
MIRT2457443	hsa-miR-411	CLIP-seq
MIRT2457444	hsa-miR-4279	CLIP-seq
MIRT1275424	hsa-miR-4284	CLIP-seq
MIRT2457445	hsa-miR-4294	CLIP-seq
MIRT2457446	hsa-miR-4309	CLIP-seq
MIRT1275425	hsa-miR-4465	CLIP-seq
MIRT2457447	hsa-miR-4505	CLIP-seq
MIRT2457448	hsa-miR-450b-5p	CLIP-seq
MIRT1275428	hsa-miR-4532	CLIP-seq
MIRT2457449	hsa-miR-4534	CLIP-seq
MIRT1275429	hsa-miR-4638-5p	CLIP-seq
MIRT2457450	hsa-miR-4708-5p	CLIP-seq
MIRT2457451	hsa-miR-4722-3p	CLIP-seq
MIRT1275474	hsa-miR-4735-5p	CLIP-seq
MIRT2457452	hsa-miR-4770	CLIP-seq
MIRT1275431	hsa-miR-4772-3p	CLIP-seq
MIRT1275432	hsa-miR-4775	CLIP-seq
MIRT1275478	hsa-miR-507	CLIP-seq
MIRT1275498	hsa-miR-557	CLIP-seq
MIRT1275439	hsa-miR-590-3p	CLIP-seq
MIRT2457453	hsa-miR-720	CLIP-seq
MIRT2604582	hsa-miR-101	CLIP-seq
MIRT2604583	hsa-miR-144	CLIP-seq
MIRT2604584	hsa-miR-3163	CLIP-seq
MIRT1275460	hsa-miR-34a	CLIP-seq
MIRT1275461	hsa-miR-34c-5p	CLIP-seq
MIRT1275469	hsa-miR-449a	CLIP-seq
MIRT1275470	hsa-miR-449b	CLIP-seq
MIRT2604585	hsa-miR-548c-3p	CLIP-seq
MIRT2604582	hsa-miR-101	CLIP-seq
MIRT2604583	hsa-miR-144	CLIP-seq
MIRT2604584	hsa-miR-3163	CLIP-seq
MIRT1275460	hsa-miR-34a	CLIP-seq
MIRT1275461	hsa-miR-34c-5p	CLIP-seq
MIRT1275469	hsa-miR-449a	CLIP-seq
MIRT1275470	hsa-miR-449b	CLIP-seq
MIRT2604585	hsa-miR-548c-3p	CLIP-seq

Show/Hide all (93)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IEA
GO:0004721	Function	Phosphoprotein phosphatase activity	IEA
GO:0004725	Function	Protein tyrosine phosphatase activity	EXP	12138178
GO:0004725	Function	Protein tyrosine phosphatase activity	IDA	12138178, 12612081, 17210636, 23006999
GO:0004725	Function	Protein tyrosine phosphatase activity	IEA
GO:0004725	Function	Protein tyrosine phosphatase activity	IMP	11909529, 14966296
GO:0004725	Function	Protein tyrosine phosphatase activity	TAS
GO:0004726	Function	Non-membrane spanning protein tyrosine phosphatase activity	IBA
GO:0005178	Function	Integrin binding	IPI	15592458
GO:0005515	Function	Protein binding	IPI	12359225, 12907755, 15696169, 16595549, 19273555, 22080863, 28514442, 33961781, 35013194
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	7593185, 12612081
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0005783	Component	Endoplasmic reticulum	IDA	7593185, 10940933
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005793	Component	Endoplasmic reticulum-Golgi intermediate compartment	IDA	23006999
GO:0005793	Component	Endoplasmic reticulum-Golgi intermediate compartment	IEA
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	TAS
GO:0005886	Component	Plasma membrane	IDA	15592458
GO:0005886	Component	Plasma membrane	IEA
GO:0008285	Process	Negative regulation of cell population proliferation	IMP	15592458
GO:0008286	Process	Insulin receptor signaling pathway	IEA
GO:0008286	Process	Insulin receptor signaling pathway	ISS
GO:0010804	Process	Negative regulation of tumor necrosis factor-mediated signaling pathway	IEA
GO:0010804	Process	Negative regulation of tumor necrosis factor-mediated signaling pathway	ISS
GO:0010888	Process	Negative regulation of lipid storage	IEA
GO:0010888	Process	Negative regulation of lipid storage	ISS
GO:0016020	Component	Membrane	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0019901	Function	Protein kinase binding	IBA
GO:0019901	Function	Protein kinase binding	IPI	11909529, 15696169
GO:0019905	Function	Syntaxin binding	IPI	23006999
GO:0030183	Process	B cell differentiation	IEA
GO:0030183	Process	B cell differentiation	ISS
GO:0030217	Process	T cell differentiation	IEA
GO:0030217	Process	T cell differentiation	ISS
GO:0030218	Process	Erythrocyte differentiation	IEA
GO:0030218	Process	Erythrocyte differentiation	ISS
GO:0030971	Function	Receptor tyrosine kinase binding	IEA
GO:0030971	Function	Receptor tyrosine kinase binding	IPI	18819921
GO:0031904	Component	Endosome lumen	IEA
GO:0035335	Process	Peptidyl-tyrosine dephosphorylation	IMP	11909529, 14966296
GO:0038020	Process	Insulin receptor recycling	IEA
GO:0042059	Process	Negative regulation of epidermal growth factor receptor signaling pathway	IMP	15592458
GO:0042532	Process	Negative regulation of tyrosine phosphorylation of STAT protein	IDA	12359225
GO:0042593	Process	Glucose homeostasis	IEA
GO:0042593	Process	Glucose homeostasis	ISS
GO:0045650	Process	Negative regulation of macrophage differentiation	IEA
GO:0045650	Process	Negative regulation of macrophage differentiation	ISS
GO:0045722	Process	Positive regulation of gluconeogenesis	IEA
GO:0045722	Process	Positive regulation of gluconeogenesis	ISS
GO:0046426	Process	Negative regulation of receptor signaling pathway via JAK-STAT	IBA
GO:0046627	Process	Negative regulation of insulin receptor signaling pathway	IEA
GO:0046627	Process	Negative regulation of insulin receptor signaling pathway	ISS
GO:0050728	Process	Negative regulation of inflammatory response	IEA
GO:0050728	Process	Negative regulation of inflammatory response	ISS
GO:0050860	Process	Negative regulation of T cell receptor signaling pathway	IEA
GO:0050860	Process	Negative regulation of T cell receptor signaling pathway	ISS
GO:0050922	Process	Negative regulation of chemotaxis	IEA
GO:0050922	Process	Negative regulation of chemotaxis	ISS
GO:0060334	Process	Regulation of type II interferon-mediated signaling pathway	TAS
GO:0060336	Process	Negative regulation of type II interferon-mediated signaling pathway	IDA	12138178
GO:0060336	Process	Negative regulation of type II interferon-mediated signaling pathway	IEA
GO:0060336	Process	Negative regulation of type II interferon-mediated signaling pathway	IMP	12138178
GO:0060336	Process	Negative regulation of type II interferon-mediated signaling pathway	ISS
GO:0060338	Process	Regulation of type I interferon-mediated signaling pathway	IEA
GO:0060339	Process	Negative regulation of type I interferon-mediated signaling pathway	IEA
GO:0060339	Process	Negative regulation of type I interferon-mediated signaling pathway	IMP	11909529
GO:0070104	Process	Negative regulation of interleukin-6-mediated signaling pathway	IEA
GO:0070104	Process	Negative regulation of interleukin-6-mediated signaling pathway	IMP	12359225
GO:0070373	Process	Negative regulation of ERK1 and ERK2 cascade	IBA
GO:0070373	Process	Negative regulation of ERK1 and ERK2 cascade	IEA
GO:0070373	Process	Negative regulation of ERK1 and ERK2 cascade	ISS
GO:0097677	Function	STAT family protein binding	IEA
GO:1902202	Process	Regulation of hepatocyte growth factor receptor signaling pathway	IEA
GO:1902202	Process	Regulation of hepatocyte growth factor receptor signaling pathway	IMP	18819921
GO:1902206	Process	Negative regulation of interleukin-2-mediated signaling pathway	IEA
GO:1902206	Process	Negative regulation of interleukin-2-mediated signaling pathway	IMP	11909529
GO:1902215	Process	Negative regulation of interleukin-4-mediated signaling pathway	IEA
GO:1902215	Process	Negative regulation of interleukin-4-mediated signaling pathway	IMP	17210636
GO:1902227	Process	Negative regulation of macrophage colony-stimulating factor signaling pathway	IEA
GO:1902227	Process	Negative regulation of macrophage colony-stimulating factor signaling pathway	ISS
GO:1902233	Process	Negative regulation of positive thymic T cell selection	IEA
GO:1902233	Process	Negative regulation of positive thymic T cell selection	ISS
GO:1902237	Process	Positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway	IEA
GO:1903899	Process	Positive regulation of PERK-mediated unfolded protein response	IEA
GO:2000587	Process	Negative regulation of platelet-derived growth factor receptor-beta signaling pathway	IEA
GO:2000587	Process	Negative regulation of platelet-derived growth factor receptor-beta signaling pathway	ISS

MIM	HGNC	e!Ensembl
176887	9650	ENSG00000175354

P17706

Protein name

Tyrosine-protein phosphatase non-receptor type 2 (EC 3.1.3.48) (T-cell protein-tyrosine phosphatase) (TCPTP)

Protein function

Non-receptor type tyrosine-specific phosphatase that dephosphorylates receptor protein tyrosine kinases including INSR, EGFR, CSF1R, PDGFR. Also dephosphorylates non-receptor protein tyrosine kinases like JAK1, JAK2, JAK3, Src family kinases, ST

PDB

1L8K , 6ZZ4 , 7F5N , 7F5O , 7UAD , 8U0H , 8UH6 , 9C54 , 9C55 , 9C56

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00102	Y_phosphatase	42 → 274	Protein-tyrosine phosphatase	Domain

Tissue specificity

TISSUE SPECIFICITY: Ubiquitously expressed. Isoform 2 is probably the major isoform. Isoform 1 is expressed in T-cells and in placenta. {ECO:0000269|PubMed:1731319, ECO:0000269|PubMed:2546150}.

Sequence

MPTTIEREFEELDTQRRWQPLYLEIRNESHDYPHRVAKFPENRNRNRYRDVSPYDHSRVK
LQNAENDYINASLVDIEEAQRSYILTQGPLPNTCCHFWLMVWQQKTKAVVMLNRIVEKES
VKCAQYWPTDDQEMLFKETGFSVKLLSEDVKSYYTVHLLQLENINSGETRTISHFHYTTW
PDFGVPESPASFLNFLFKVRESGSLNPDHGPAVIHCSAGIGRSGTFSLVDTCLVLMEKGD
DINIKQVLLNMRKYRMGLIQTPDQLRFSYMAIIEGAKCIKGDSSIQKRWKELSKEDLSPA
FDHSPNKIMTEKYNGNRIGLEEEKLTGDRCTGLSSKMQDTMEENSESALRKRIREDRKAT
TAQKVQQMKQRLNENERKRKRWLYWQPILTKMGFMSVILVGAFVGWTLFFQQNAL

Sequence length

415

Interactions

View interactions

	KEGG		Reactome
	JAK-STAT signaling pathway		Negative regulation of MET activity Regulation of IFNG signaling Interleukin-37 signaling

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)

Show/Hide Unknown Diseases (37)

Phenotype Name	Clinical Significance	Source	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.
ANKYLOSING SPONDYLITIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ARTHRITIS, RHEUMATOID	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATOPIC ECZEMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOIMMUNE DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOIMMUNE THYROID DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CELIAC DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC LEFT-SIDED ULCERATIVE COLITIS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLITIS, ULCERATIVE	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CROHN DISEASE	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CROHN'S DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CROHNS DISEASE OF LARGE BOWEL	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DERMATITIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ESOPHAGEAL CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPOTHYROIDISM	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IMMUNE SYSTEM DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INFLAMMATORY BOWEL DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INFLAMMATORY SKIN DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
JUVENILE PAUCIARTICULAR CHRONIC ARTHRITIS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEUKEMIA, T-CELL	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OLIGOARTICULAR JUVENILE IDIOPATHIC ARTHRITIS	—	GWAS catalog, Orphanet GWAS catalog, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POLYARTICULAR JUVENILE IDIOPATHIC ARTHRITIS, RHEUMATOID FACTOR NEGATIVE	—	Disgenet, GWAS catalog Disgenet, GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSORIASIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSORIASIS VULGARIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RHEUMATOID ARTHRITIS	—	Disgenet, GWAS catalog Disgenet, GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RHEUMATOID FACTOR-NEGATIVE POLYARTICULAR JUVENILE IDIOPATHIC ARTHRITIS	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCLEROSING CHOLANGITIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SELECTIVE IGA DEFICIENCY DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SQUAMOUS CELL CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SYSTEMIC JUVENILE IDIOPATHIC ARTHRITIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SYSTEMIC LUPUS ERYTHEMATOSUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 1 DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ULCERATIVE COLITIS	—	Disgenet, GWAS catalog Disgenet, GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VITILIGO	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (160)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Adult Hodgkin Lymphoma	Hodgkin Lymphoma	BEFREE	21791476		★★★★★ ★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	29684019	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ankylosing spondylitis	Ankylosing Spondylitis	GWASCAT_DG	26974007		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Antiphospholipid Syndrome	Antiphospholipid syndrome	Pubtator	30471352	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Apraxias	Apraxia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	29587266		★★★★★ ★☆☆☆☆ Found in Text Mining only
Arthritis Juvenile	Juvenile arthritis	Pubtator	20722033, 22294642, 23603761, 24886659, 30940621	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	21452313, 23577190, 25652333, 28107378, 29398253, 29423382, 34445589	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	GWASDB_DG	21150878		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ataxia Telangiectasia	Ataxia telangiectasia	Pubtator	21551237, 31270080	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	29587266		★★★★★ ★☆☆☆☆ 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	20473312, 20722033, 21246196, 22960018, 23792059, 26074154, 27658548, 29398253, 30471352, 30620725		★★★★★ ★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune disease	Pubtator	20722033, 26040922, 29398253, 30471352, 31722988	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	GWASCAT_DG	21383967, 30595370		★★★★★ ★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	GWASDB_DG	21383967		★★★★★ ★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases of the Nervous System	Autoimmune nervous system disorder	Pubtator	39959585	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	26817397		★★★★★ ★☆☆☆☆ Found in Text Mining only
Behcet Syndrome	Behcet Syndrome	BEFREE	24480412, 29502070		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	23166300, 26208487, 30515568, 31025094		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	26208487, 30515568, 31025094	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	19140237, 34057016	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	28400551		★★★★★ ★☆☆☆☆ Found in Text Mining only
Celiac Disease	Celiac disease	Pubtator	19073967	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Celiac Disease	Celiac disease	GWASCAT_DG	20190752, 22057235, 26546613		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Celiac Disease	Celiac disease	GWASDB_DG	20190752, 22057235, 23143596		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangitis, Sclerosing	Cholangitis	GWASCAT_DG	26974007		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	BEFREE	25492475, 27115526, 29444435, 30936146		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colitis Ulcerative	Ulcerative colitis	Pubtator	21830272, 22457781, 26928573	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	29444435		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colonic Diseases	Colonic disease	Pubtator	21830272	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	32207560	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Abnormalities	Congenital abnormalities	Pubtator	37537852	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	CTD_human_DG	17554261		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Crohn Disease	Crohn Disease	GWASDB_DG	18587394, 21102463, 21298027		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Crohn Disease	Crohn Disease	BEFREE	19174780, 19818778, 19953089, 20222910, 20403149, 20736230, 21115548, 21818367, 21830272, 21987459, 22021207, 22377701, 22426692, 22457781, 22671596 View all (9 more)		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Crohn Disease	Crohn disease	Pubtator	19818778, 20117335, 20736230, 21548950, 21818367, 21830272, 22377701, 22457781, 22671596, 24901824, 25489960, 26928573, 29423382, 29456405, 29965986, 34198814, 34445589, 37537852 View all (3 more)	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Crohn Disease	Crohn Disease	GWASCAT_DG	21102463, 25489960, 26192919, 26974007, 28067908		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Crohn`s disease of large bowel	Crohn`s Disease Of Large Bowel	CTD_human_DG	17554261		★★★★★ ★☆☆☆☆ Found in Text Mining only
Crohn`s disease of the ileum	Crohn`s Disease Of The Ileum	CTD_human_DG	17554261		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dermatitis	Dermatitis	BEFREE	27658548		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes	Diabetes	BEFREE	29247561, 30936146, 31373168		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	29247561, 29516520, 30936146, 31373168		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	32207560, 38241313	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 1	Diabetes mellitus, type 1	Pubtator	21429197, 22960018, 26224887, 26344020, 29343548, 29398253, 31030572, 33193091, 35812428, 36497105	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	30246029	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	19073967, 19336676, 21246196, 21984578, 22932816, 22960018, 23539116, 24936733, 25460303, 26224887, 26344020, 26734582, 27658548, 29444435, 30936146, 31030572, 31808541 View all (2 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	GWASDB_DG	19430480, 21980299		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	GWASCAT_DG	19430480, 25751624		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	29516520, 30246029, 31490104		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetic Angiopathies	Diabetic angiopathies	Pubtator	33193091	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathy	Diabetic Nephropathy	BEFREE	30955247		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diffuse Large B-Cell Lymphoma	Diffuse Lymphoma	BEFREE	15591113, 17210636		★★★★★ ★☆☆☆☆ Found in Text Mining only
Eclampsia	Eclampsia	BEFREE	27746364		★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophagus Neoplasm	GWASCAT_DG	22960999		★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophagus Neoplasm	GWASDB_DG	22960999		★★★★★ ★☆☆☆☆ Found in Text Mining only
Fatty Liver Disease	Fatty Liver	BEFREE	30625307		★★★★★ ★☆☆☆☆ Found in Text Mining only
Gallstones	Gallstones	Pubtator	26928573	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	11514572, 29764444		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	29764444	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	11514572		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	29764444, 31241223		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	29764444, 37812190	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hematologic Diseases	Hematologic disease	Pubtator	37884566, 39959585	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin Disease	BEFREE	21791476		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin disease	Pubtator	21791476	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypercholesterolemia	Hypercholesterolemia	BEFREE	30955247		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	BEFREE	30955247		★★★★★ ★☆☆☆☆ Found in Text Mining only
IIeocolitis	Ileocolitis	CTD_human_DG	17554261		★★★★★ ★☆☆☆☆ Found in Text Mining only
Immune System Diseases	Immune System Diseases	GWASCAT_DG	21383967		★★★★★ ★☆☆☆☆ Found in Text Mining only
Immune System Diseases	Immune System Diseases	GWASDB_DG	21383967		★★★★★ ★☆☆☆☆ Found in Text Mining only
Immunoglobulin A deficiency (disorder)	Immunoglobulin A deficiency	GWASCAT_DG	27723758		★★★★★ ★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	21115548, 21987459, 22457781, 22671594, 22671596, 24040033, 26811645, 26928573, 27115526, 28287113, 28804910, 29398253, 29444435, 29965986		★★★★★ ★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory bowel disease	Pubtator	22377701, 22457781, 22671596, 24022492, 24901824, 26928573, 27824650, 29398253, 29965986, 32031616, 32652144, 34623321	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	GWASCAT_DG	23128233, 26192919, 28067908		★★★★★ ★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	GWASDB_DG	23128233		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intestinal Diseases	Intestinal Diseases	BEFREE	21987459		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intestinal Diseases	Intestinal disease	Pubtator	28804910	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Iridocyclitis	Iridocyclitis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Irritable Bowel Syndrome	Irritable Bowel Syndrome	BEFREE	21987459, 29965986		★★★★★ ★☆☆☆☆ Found in Text Mining only
Juvenile arthritis	Arthritis	BEFREE	20722033, 23603761, 25460303		★★★★★ ★☆☆☆☆ Found in Text Mining only
Juvenile arthritis	Arthritis	GWASDB_DG	22354554		★★★★★ ★☆☆☆☆ Found in Text Mining only
Juvenile arthritis	Arthritis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Juvenile pauciarticular chronic arthritis	Pauciarticular chronic arthritis	ORPHANET_DG	22294642		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Juvenile pauciarticular chronic arthritis	Pauciarticular chronic arthritis	GWASCAT_DG	23603761		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Juvenile-Onset Still Disease	Still Disease	GWASCAT_DG	23603761		★★★★★ ★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	21791476, 26817397, 31248982		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	31248982	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	37884566	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia, T-Cell	T-cell leukemia	CTD_human_DG	20473312		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Liver carcinoma	Liver carcinoma	BEFREE	30625307		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Diseases Interstitial	Lung disease	Pubtator	39959585	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	28400551	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	31616406	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	25652333, 31616406		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	19140237	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	21791476, 26817397, 31248982		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	Pubtator	31248982	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	23166300, 26208487, 30515568, 31025094		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	28400551		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of skin	Skin cancer	BEFREE	29955047		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of thyroid	Thyroid cancer	BEFREE	31735335		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	21791476, 28723893		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	29444435		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	19635455, 30515568		★★★★★ ★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic Diseases	BEFREE	30955247		★★★★★ ★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome X	Metabolic Syndrome	BEFREE	21300955		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mitral Valve Stenosis	Mitral Valve Stenosis	BEFREE	24376757		★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	GWASDB_DG	22190364		★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	24376757, 28342869		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia, Chronic	Myeloid Leukemia	BEFREE	23759247		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myocardial Ischemia	Myocardial Ischemia	BEFREE	30668175		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	20473312, 21791476, 23166300, 26208487, 29764444, 31025094, 31270080, 31803974		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	21876762	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
NON RARE IN EUROPE: Crohn disease	Crohn disease	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
NON RARE IN EUROPE: Ulcerative colitis	Ulcerative colitis	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	28768176, 30230471		★★★★★ ★☆☆☆☆ Found in Text Mining only
Oligoarticular juvenile idiopathic arthritis	Oligoarticular Arthritis	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Oligoarticular Juvenile Idiopathic Arthritis	Oligoarticular Arthritis	GWASCAT_DG	23603761		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Oligoarticular Juvenile Idiopathic Arthritis	Oligoarticular Arthritis	BEFREE	24886659		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteogenesis imperfecta type 2A	Osteogenesis imperfecta	Pubtator	31030572	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteopenia	Osteopenia	BEFREE	31373168		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	39179931	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	33122197, 35154122	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pericarditis	Pericarditis	BEFREE	27879428		★★★★★ ★☆☆☆☆ Found in Text Mining only
Periodontitis	Periodontitis	BEFREE	29516520, 31373168		★★★★★ ★☆☆☆☆ Found in Text Mining only
Peripheral T-Cell Lymphoma	T-Cell Lymphoma	BEFREE	21791476		★★★★★ ★☆☆☆☆ Found in Text Mining only
Polyarthritis	Polyarthritis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Polyarticular Juvenile Idiopathic Arthritis, Rheumatoid Factor Negative	Seronegative polyarthritis	GWASCAT_DG	23603761		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma	Lymphoblastic Leukemia	BEFREE	20473312, 21551237, 21791476, 26817397, 31270080		★★★★★ ★☆☆☆☆ Found in Text Mining only
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma	Lymphoblastic Leukemia	CTD_human_DG	20473312		★★★★★ ★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	GWASCAT_DG	26974007, 28537254		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Psoriasis	Psoriasis	BEFREE	30266502		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Regional enteritis	Crohn Disease	CTD_human_DG	17554261		★★★★★ ★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	22021207, 22446963, 22671594, 23840476, 25652333, 27342690, 29398253, 29423382, 30620725		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Rheumatoid Arthritis	Rheumatoid arthritis	GWASCAT_DG	22446963, 24390342, 24532676, 26546613, 30423114		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Rheumatoid Arthritis	Rheumatoid arthritis	CTD_human_DG	22446963		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Rheumatoid Arthritis	Rheumatoid arthritis	GWASDB_DG	22446963, 24390342		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Rheumatoid Arthritis, Systemic Juvenile	Rheumatoid arthritis	GWASCAT_DG	23603761		★★★★★ ★☆☆☆☆ Found in Text Mining only
Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis	Rheumatoid Factor-Negative Polyarticular Arthritis	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Selective immunoglobulin A deficiency	Selective Immunoglobulin A Deficiency	GWASCAT_DG	27723758		★★★★★ ★☆☆☆☆ Found in Text Mining only
Skin Neoplasms	Skin Neoplasms	BEFREE	28322331, 31264291		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	GWASCAT_DG	22960999		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Stomatitis Aphthous	Aphthous stomatitis	Pubtator	26928573	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Systemic onset juvenile chronic arthritis	Arthritis	GWASCAT_DG	23603761		★★★★★ ★☆☆☆☆ Found in Text Mining only
T-Cell Lymphoma	T-Cell Lymphoma	BEFREE	21791476		★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid Cancer Papillary	Papillary thyroid cancer	Pubtator	32285621	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid carcinoma	Thyroid Carcinoma	BEFREE	31735335		★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	BEFREE	31735335		★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroiditis Autoimmune	Thyroiditis	Pubtator	19951419	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	23166300		★★★★★ ★☆☆☆☆ Found in Text Mining only
Turner Syndrome	Turner syndrome	Pubtator	30122583	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	BEFREE	18438405, 21115548, 22021207, 22377701, 22426692, 22457781, 24127071, 26928573		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ulcerative Colitis	Ulcerative colitis	LHGDN	18438405		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ulcerative Colitis	Ulcerative colitis	CTD_human_DG	18438405		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ulcerative Colitis	Ulcerative colitis	GWASCAT_DG	26192919, 26974007		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ulcerative Colitis	Ulcerative colitis	GENOMICS_ENGLAND_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveitis	Uveitis	Pubtator	26928573	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Uveitis	Uveitis	BEFREE	28145159		★★★★★ ★☆☆☆☆ Found in Text Mining only

PTPN2 (protein tyrosine phosphatase non-receptor type 2)