PTPRU (protein tyrosine phosphatase receptor type U)

Gene

• Entrez ID: 10076
• Gene name: Protein tyrosine phosphatase receptor type U
• Gene symbol: PTPRU
• Synonyms (NCBI Gene): FMI, PCP-2, PTP, PTP-J, PTP-PI, PTP-RO, PTPPSI, PTPRO, PTPU2, R-PTP-PSI, R-PTP-U, hPTP-J
• Chromosome: 1
• Chromosome location: 1p35.3
• Summary: The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic tran

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs540351799	A>C	Likely-pathogenic	Missense variant, coding sequence variant
rs559788899	C>T	Likely-pathogenic	Coding sequence variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT019113	hsa-miR-335-5p	Microarray	18185580
MIRT040396	hsa-miR-615-3p	CLASH	23622248
MIRT1276554	hsa-miR-139-5p	CLIP-seq
MIRT1276555	hsa-miR-199a-3p	CLIP-seq
MIRT1276556	hsa-miR-199b-3p	CLIP-seq
MIRT1276557	hsa-miR-3127-5p	CLIP-seq
MIRT1276558	hsa-miR-3129-5p	CLIP-seq
MIRT1276559	hsa-miR-4270	CLIP-seq
MIRT1276560	hsa-miR-4441	CLIP-seq
MIRT1276561	hsa-miR-582-5p	CLIP-seq
MIRT1276562	hsa-miR-936	CLIP-seq
MIRT1276563	hsa-let-7a	CLIP-seq
MIRT1276564	hsa-let-7b	CLIP-seq
MIRT1276565	hsa-let-7c	CLIP-seq
MIRT1276566	hsa-let-7d	CLIP-seq
MIRT1276567	hsa-let-7e	CLIP-seq
MIRT1276568	hsa-let-7f	CLIP-seq
MIRT1276569	hsa-let-7g	CLIP-seq
MIRT1276570	hsa-let-7i	CLIP-seq
MIRT1276571	hsa-miR-1304	CLIP-seq
MIRT1276554	hsa-miR-139-5p	CLIP-seq
MIRT1276555	hsa-miR-199a-3p	CLIP-seq
MIRT1276556	hsa-miR-199b-3p	CLIP-seq
MIRT1276572	hsa-miR-21	CLIP-seq
MIRT1276573	hsa-miR-2110	CLIP-seq
MIRT1276558	hsa-miR-3129-5p	CLIP-seq
MIRT1276574	hsa-miR-3691-3p	CLIP-seq
MIRT1276575	hsa-miR-3943	CLIP-seq
MIRT1276576	hsa-miR-4271	CLIP-seq
MIRT1276577	hsa-miR-4286	CLIP-seq
MIRT1276578	hsa-miR-4313	CLIP-seq
MIRT1276579	hsa-miR-4458	CLIP-seq
MIRT1276580	hsa-miR-4480	CLIP-seq
MIRT1276581	hsa-miR-4500	CLIP-seq
MIRT1276582	hsa-miR-4633-5p	CLIP-seq
MIRT1276583	hsa-miR-4699-3p	CLIP-seq
MIRT1276584	hsa-miR-4712-5p	CLIP-seq
MIRT1276585	hsa-miR-4725-3p	CLIP-seq
MIRT1276586	hsa-miR-518a-3p	CLIP-seq
MIRT1276587	hsa-miR-518b	CLIP-seq
MIRT1276588	hsa-miR-518c	CLIP-seq
MIRT1276589	hsa-miR-518d-3p	CLIP-seq
MIRT1276590	hsa-miR-518e	CLIP-seq
MIRT1276591	hsa-miR-518f	CLIP-seq
MIRT1276592	hsa-miR-520d-5p	CLIP-seq
MIRT1276593	hsa-miR-524-5p	CLIP-seq
MIRT1276594	hsa-miR-532-5p	CLIP-seq
MIRT1276561	hsa-miR-582-5p	CLIP-seq
MIRT1276595	hsa-miR-590-5p	CLIP-seq
MIRT1276596	hsa-miR-770-5p	CLIP-seq
MIRT1276562	hsa-miR-936	CLIP-seq
MIRT1276597	hsa-miR-98	CLIP-seq
MIRT2081316	hsa-miR-141	CLIP-seq
MIRT2081317	hsa-miR-200a	CLIP-seq
MIRT2081318	hsa-miR-3150a-3p	CLIP-seq
MIRT2081319	hsa-miR-3174	CLIP-seq
MIRT2081320	hsa-miR-3175	CLIP-seq
MIRT2081321	hsa-miR-3189-5p	CLIP-seq
MIRT1276575	hsa-miR-3943	CLIP-seq
MIRT1276577	hsa-miR-4286	CLIP-seq
MIRT2081322	hsa-miR-4728-5p	CLIP-seq
MIRT2081323	hsa-miR-486-3p	CLIP-seq
MIRT2081324	hsa-miR-491-5p	CLIP-seq
MIRT2081325	hsa-miR-548p	CLIP-seq
MIRT2081326	hsa-miR-921	CLIP-seq
MIRT2081327	hsa-miR-939	CLIP-seq
MIRT2081328	hsa-miR-940	CLIP-seq
MIRT2439717	hsa-miR-4514	CLIP-seq
MIRT2439718	hsa-miR-4692	CLIP-seq
MIRT2081328	hsa-miR-940	CLIP-seq
MIRT2081316	hsa-miR-141	CLIP-seq
MIRT2604900	hsa-miR-1913	CLIP-seq
MIRT2081317	hsa-miR-200a	CLIP-seq
MIRT2604901	hsa-miR-324-3p	CLIP-seq
MIRT1276577	hsa-miR-4286	CLIP-seq
MIRT2604902	hsa-miR-4293	CLIP-seq
MIRT2604903	hsa-miR-4749-3p	CLIP-seq
MIRT2081316	hsa-miR-141	CLIP-seq
MIRT2604900	hsa-miR-1913	CLIP-seq
MIRT2689140	hsa-miR-1915	CLIP-seq
MIRT2081317	hsa-miR-200a	CLIP-seq
MIRT2689141	hsa-miR-2115	CLIP-seq
MIRT2689142	hsa-miR-2355-5p	CLIP-seq
MIRT1276557	hsa-miR-3127-5p	CLIP-seq
MIRT2604901	hsa-miR-324-3p	CLIP-seq
MIRT1276574	hsa-miR-3691-3p	CLIP-seq
MIRT1276577	hsa-miR-4286	CLIP-seq
MIRT2604902	hsa-miR-4293	CLIP-seq
MIRT1276580	hsa-miR-4480	CLIP-seq
MIRT2689143	hsa-miR-4492	CLIP-seq
MIRT2689144	hsa-miR-4498	CLIP-seq
MIRT2689145	hsa-miR-4505	CLIP-seq
MIRT2689146	hsa-miR-4640-5p	CLIP-seq
MIRT1276584	hsa-miR-4712-5p	CLIP-seq
MIRT2689147	hsa-miR-4726-5p	CLIP-seq
MIRT2604903	hsa-miR-4749-3p	CLIP-seq
MIRT2689148	hsa-miR-4786-5p	CLIP-seq
MIRT2689149	hsa-miR-516a-3p	CLIP-seq
MIRT2689150	hsa-miR-665	CLIP-seq
MIRT2689151	hsa-miR-762	CLIP-seq
MIRT2689152	hsa-miR-769-5p	CLIP-seq
MIRT1276596	hsa-miR-770-5p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004721	Function	Phosphoprotein phosphatase activity	IEA
GO:0004725	Function	Protein tyrosine phosphatase activity	IBA
GO:0004725	Function	Protein tyrosine phosphatase activity	IDA	12501215
GO:0004725	Function	Protein tyrosine phosphatase activity	IEA
GO:0004725	Function	Protein tyrosine phosphatase activity	IMP	16574648
GO:0005001	Function	Transmembrane receptor protein tyrosine phosphatase activity	NAS	8700514
GO:0005515	Function	Protein binding	IPI	10397721, 17622474
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	NAS	8700514
GO:0005886	Component	Plasma membrane	TAS
GO:0005911	Component	Cell-cell junction	IDA	12501215
GO:0005911	Component	Cell-cell junction	IEA
GO:0006470	Process	Protein dephosphorylation	IDA	12501215
GO:0007155	Process	Cell adhesion	IEA
GO:0007155	Process	Cell adhesion	NAS	8700514
GO:0007165	Process	Signal transduction	IBA
GO:0007185	Process	Cell surface receptor protein tyrosine phosphatase signaling pathway	NAS	8700514
GO:0008013	Function	Beta-catenin binding	IEA
GO:0008013	Function	Beta-catenin binding	IPI	16574648
GO:0008285	Process	Negative regulation of cell population proliferation	IDA	16574648
GO:0016020	Component	Membrane	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0030154	Process	Cell differentiation	IEA
GO:0030336	Process	Negative regulation of cell migration	IDA	12501215, 16574648
GO:0030336	Process	Negative regulation of cell migration	IEA
GO:0031100	Process	Animal organ regeneration	IEA
GO:0031175	Process	Neuron projection development	IBA
GO:0034109	Process	Homotypic cell-cell adhesion	IEA
GO:0034394	Process	Protein localization to cell surface	IDA	16574648
GO:0034394	Process	Protein localization to cell surface	IEA
GO:0051384	Process	Response to glucocorticoid	IEA
GO:0070161	Component	Anchoring junction	IEA
GO:0090090	Process	Negative regulation of canonical Wnt signaling pathway	IDA	16574648
GO:2000049	Process	Positive regulation of cell-cell adhesion mediated by cadherin	IDA	16574648

Other IDs

• MIM: 602454
• HGNC: 9683
• e!Ensembl: ENSG00000060656

Protein

• UniProt ID: Q92729
• Protein name: Receptor-type tyrosine-protein phosphatase U (R-PTP-U) (EC 3.1.3.48) (Pancreatic carcinoma phosphatase 2) (PCP-2) (Protein-tyrosine phosphatase J) (PTP-J) (hPTP-J) (Protein-tyrosine phosphatase pi) (PTP pi) (Protein-tyrosine phosphatase receptor omicron)
• Protein function: Tyrosine-protein phosphatase which dephosphorylates CTNNB1. Regulates CTNNB1 function both in cell adhesion and signaling. May function in cell proliferation and migration and play a role in the maintenance of epithelial integrity. May play a ro
• PDB: 6SUB, 6SUC
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00629	MAM	27 → 187	MAM domain, meprin/A5/mu	Domain
  PF00041	fn3	287 → 370	Fibronectin type III domain	Domain
  PF00041	fn3	490 → 579	Fibronectin type III domain	Domain
  PF00102	Y_phosphatase	913 → 1143	Protein-tyrosine phosphatase	Domain
  PF00102	Y_phosphatase	1203 → 1438	Protein-tyrosine phosphatase	Domain

• Tissue specificity: TISSUE SPECIFICITY: High levels in brain, pancreas, and skeletal muscle; less in colon, kidney, liver, stomach, and uterus; not expressed in placenta and spleen. Also detected in heart, prostate, lung, thymus, testis and ovary. Ubiquitously expressed in b
• Sequence:

  MARAQALVLALTFQLCAPETETPAAGCTFEEASDPAVPCEYSQAQYDDFQWEQVRIHPGT
  RAPADLPHGSYLMVNTSQHAPGQRAHVIFQSLSENDTHCVQFSYFLYSRDGHSPGTLGVY
  VRVNGGPLGSAVWNMTGSHGRQWHQAELAVSTFWPNEYQVLFEALISPDRRGYMGLDDIL
  LLSYPCAKAPHFSRLGDVEVNAGQNASFQCMAAGRAAEAERFLLQRQSGALVPAAGVRHI
  SHRRFLATFPLAAVSRAEQDLYRCVSQAPRGAGVSNFAELIVKEPPTPIAPPQLLRAGPT
  YLIIQLNTNSIIGDGPIVRKEIEYRMARGPWAEVHAVSLQTYKLWHLDPDTEYEISVLLT
  RPGDGGTGRPGPPLISRTKCAEPMRAPKGLAFAEIQARQLTLQWEPLGYNVTRCHTYTVS
  LCYHYTLGSSHNQTIRECVKTEQGVSRYTIKNLLPYRNVHVRLVLTNPEGRKEGKEVTFQ
  TDEDVPSGIAAESLTFTPLEDMIFLKWEEPQEPNGLITQYEISYQSIESSDPAVNVPGPR
  RTISKLRNETYHVFSNLHPGTTYLFSVRARTGKGFGQAALTEITTNISAPSFDYADMPSP
  LGESENTITVLLRPAQGRGAPISVYQVIVEEERARRLRREPGGQDCFPVPLTFEAALARG
  LVHYFGAELAASSLPEAMPFTVGDNQTYRGFWNPPLEPRKAYLIYFQAASHLKGETRLNC
  IRIARKAACKESKRPLEVSQRSEEMGLILGICAGGLAVLILLLGAIIVIIRKGRDHYAYS
  YYPKPVNMTKATVNYRQEKTHMMSAVDRSFTDQSTLQEDERLGLSFMDTHGYSTRGDQRS
  GGVTEASSLLGGSPRRPCGRKGSPYHTGQLHPAVRVADLLQHINQMKTAEGYGFKQEYES
  FFEGWDATKKKDKVKGSRQEPMPAYDRHRVKLHPMLGDPNADYINANYIDGYHRSNHFIA
  TQGPKPEMVYDFWRMVWQEHCSSIVMITKLVEVGRVKCSRYWPEDSDTYGDIKIMLVKTE
  TLAEYVVRTFALERRGYSARHEVRQFHFTAWPEHGVPYHATGLLAFIRRVKASTPPDAGP
  IVIHCSAGTGRTGCYIVLDVMLDMAECEGVVDIYNCVKTLCSRRVNMIQTEEQYIFIHDA
  ILEACLCGETTIPVSEFKATYKEMIRIDPQSNSSQLREEFQTLNSVTPPLDVEECSIALL
  PRNRDKNRSMDVLPPDRCLPFLISTDGDSNNYINAALTDSYTRSAAFIVTLHPLQSTTPD
  FWRLVYDYGCTSIVMLNQLNQSNSAWPCLQYWPEPGRQQYGLMEVEFMSGTADEDLVARV
  FRVQNISRLQEGHLLVRHFQFLRWSAYRDTPDSKKAFLHLLAEVDKWQAESGDGRTIVHC
  LNGGGRSGTFCACATVLEMIRCHNLVDVFFAAKTLRNYKPNMVETMDQYHFCYDVALEYL
  EGLESR

• Sequence length: 1446

Pathways

Reactome:

Signaling by SCF-KIT

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
Short stature	Likely pathogenic	rs559788899, rs540351799	RCV000736221 RCV000736222	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Hepatocellular carcinoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PTPRU-related disorder	Uncertain significance; Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TOURETTE SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	24045499		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	10769629, 25730908		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of pancreas	Pancreatic adenocarcinoma	BEFREE	8700514		★☆☆☆☆ Found in Text Mining only
Adrenal Gland Pheochromocytoma	Adrenal Gland Pheochromocytoma	BEFREE	10657947		★☆☆☆☆ Found in Text Mining only
Antiphospholipid Syndrome	Antiphospholipid Syndrome	GWASCAT_DG	28424481		★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	BEFREE	22505657		★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	Pubtator	27586084	Associate	★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune disease	Pubtator	27977138	Associate	★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	31616406		★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	26817397		★☆☆☆☆ Found in Text Mining only
B-CELL MALIGNANCY, LOW-GRADE	Lymphocytic Leukemia	BEFREE	28166196		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	10365916, 10769629, 18183590, 19095770, 22851698, 24090193, 24919593, 27345410		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	12475979, 19095770, 22851698, 24090193, 24919593, 36003382, 39684488, 9115287	Associate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	25034527	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	30126387		★☆☆☆☆ Found in Text Mining only
Carcinoma Basal Cell	Basal cell carcinoma	Pubtator	36309102	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	15356345	Inhibit	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	25034527, 29742497	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	1596910, 1711217		★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	28923567		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	31319588		★☆☆☆☆ Found in Text Mining only
Chloasma	Melasma	BEFREE	31516612		★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	17545520, 22001392, 25482129, 28166196		★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	LHGDN	17545520		★☆☆☆☆ Found in Text Mining only
Clear-cell metastatic renal cell carcinoma	Renal Carcinoma	BEFREE	7585599		★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	18183590		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	20477815, 24242166, 30731403, 31827380		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	BEFREE	19000305		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	19000305, 25301722, 31827380	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	25337216	Inhibit	★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	1711217, 8833149		★☆☆☆☆ Found in Text Mining only
Craniosynostosis	Craniosynostosis	BEFREE	21708297		★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	9862731		★☆☆☆☆ Found in Text Mining only
Diabetes Gestational	Gestational diabetes	Pubtator	34007244	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	27977138	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	9862731		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	15571930, 8798755, 9754810, 9862731		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	16679294, 29439147		★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathies	Diabetic neuropathy	Pubtator	29207157, 34557161	Associate	★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathies	Diabetic neuropathy	Pubtator	37916327	Inhibit	★☆☆☆☆ Found in Text Mining only
Diffuse Large B-Cell Lymphoma	Diffuse Lymphoma	BEFREE	10498613, 27720936		★☆☆☆☆ Found in Text Mining only
Emphysema	Emphysema	Pubtator	28199135	Associate	★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	22099875	Associate	★☆☆☆☆ Found in Text Mining only
Fanconi Anemia	Fanconi Anemia	BEFREE	22482891		★☆☆☆☆ Found in Text Mining only
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)	Anemia	BEFREE	22482891		★☆☆☆☆ Found in Text Mining only
Focal glomerulosclerosis	Glomerulosclerosis	BEFREE	14531804		★☆☆☆☆ Found in Text Mining only
Focal glomerulosclerosis	Glomerulosclerosis	LHGDN	16564554		★☆☆☆☆ Found in Text Mining only
Focal glomerulosclerosis	Glomerulosclerosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Fulminant hepatitis	Fulminant Hepatitis	BEFREE	25339662		★☆☆☆☆ Found in Text Mining only
Genetic steroid-resistant nephrotic syndrome	Genetic Steroid-Resistant Nephrotic Syndrome	Orphanet			★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	27586084, 30348936	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	30348936		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	22505657, 30348936		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	20506511, 22505657, 24876153		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	27586084	Associate	★☆☆☆☆ Found in Text Mining only
Glomerulonephritis IGA	Iga nephropathy	Pubtator	17593862	Inhibit	★☆☆☆☆ Found in Text Mining only
Hereditary Breast and Ovarian Cancer Syndrome	Hereditary breast and ovarian cancer syndrome	Pubtator	24919593	Associate	★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	BEFREE	16679294		★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	11086029, 15229188		★☆☆☆☆ Found in Text Mining only
Hypoalbuminemia	Hypoalbuminemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	24385580		★☆☆☆☆ Found in Text Mining only
Kidney Neoplasm	Kidney Neoplasm	BEFREE	10769629, 7585599		★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	18997174, 22001392, 23825065		★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	LHGDN	18997174		★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	19095770	Inhibit	★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	20564182, 9694875	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	28176486	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	26308771		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	22821478, 29558404		★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	CTD_human_DG	19233941, 20163174		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	LHGDN	15356345		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	15356345, 19095770	Inhibit	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	BEFREE	1711217, 17545520		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	17545520	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	31616406		★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	Pubtator	10395944	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	LHGDN	16888096		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	10365916, 10769629, 18183590, 19095770, 22851698, 24090193, 24919593, 27345410		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of kidney	Kidney Cancer	BEFREE	1596910		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	CTD_human_DG	19233941, 20163174		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	BEFREE	25339662		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	1596910		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	28923567		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	27762495, 30172243		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	20477815		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	10769629, 12553013, 15803146, 19000305, 22099875, 28586036, 29214238, 30297534, 31632062, 31805633, 31827380		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	18183590		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	LHGDN	19095770		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	11710941, 15888148		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	11710941	Associate	★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	CTD_human_DG	21499247		★☆☆☆☆ Found in Text Mining only
Mental disorders	Mental Disorders	BEFREE	31339347		★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia, Chronic	Myeloid Leukemia	BEFREE	29507701		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	10769629, 11597125, 15803146, 1596910, 16682945, 16888096, 1711217, 17545520, 22851698, 24876153, 25339662, 25482129, 28166196, 28586036, 28923567, 29558404, 30297534, 31213912, 31632062, 31827380, 8833149		★☆☆☆☆ Found in Text Mining only
Nephritis	Nephritis	BEFREE	8600307		★☆☆☆☆ Found in Text Mining only
Nephrosis congenital	Nephrotic syndrome	Pubtator	21722858	Associate	★☆☆☆☆ Found in Text Mining only
Nephrotic Syndrome	Nephrotic Syndrome	BEFREE	21722858		★☆☆☆☆ Found in Text Mining only
Nephrotic Syndrome	Nephrotic syndrome	Pubtator	21722858	Associate	★☆☆☆☆ Found in Text Mining only
Nephrotic Syndrome	Nephrotic Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE	Nephritis	ORPHANET_DG	21722858		★☆☆☆☆ Found in Text Mining only
NEPHROTIC SYNDROME, TYPE 6	Nephrotic Syndrome	GENOMICS_ENGLAND_DG	30065916		★☆☆☆☆ Found in Text Mining only
NEPHROTIC SYNDROME, TYPE 6	Nephrotic Syndrome	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	30315478		★☆☆☆☆ Found in Text Mining only
Neuroectodermal Tumors	Neuroectodermal Tumors	BEFREE	10657947		★☆☆☆☆ Found in Text Mining only
Noonan Syndrome	Noonan Syndrome	BEFREE	15834506, 23825065, 27939989, 29214238		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	15229188, 30677103, 31668791		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	27977138, 39275286	Associate	★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	8992885		★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	28923567		★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	27762495, 30172243		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	26825389		★☆☆☆☆ Found in Text Mining only
Pheochromocytoma	Pheochromocytoma	BEFREE	10657947		★☆☆☆☆ Found in Text Mining only
Polycythemia Vera	Polycythemia Vera	BEFREE	12920026		★☆☆☆☆ Found in Text Mining only
Polycythemia Vera	Polycythemia vera	Pubtator	12920026	Associate	★☆☆☆☆ Found in Text Mining only
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma	Lymphoblastic Leukemia	BEFREE	26817397		★☆☆☆☆ Found in Text Mining only
Proteinuria	Proteinuria	Pubtator	17593862	Inhibit	★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	28199135	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary Emphysema	Pulmonary Emphysema	BEFREE	28199135		★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	1711217, 8833149		★☆☆☆☆ Found in Text Mining only
Renal glomerular disease	Renal Glomerular Disease	BEFREE	8600307		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	28916544		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	22099875		★☆☆☆☆ Found in Text Mining only
Stage IV Skin Melanoma	Skin Melanoma	BEFREE	25113440		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	25337216	Associate	★☆☆☆☆ Found in Text Mining only
Uveitis	Uveitis	BEFREE	26746987		★☆☆☆☆ Found in Text Mining only
X-linked centronuclear myopathy	Centronuclear Myopathy, X-Linked	BEFREE	30884204		★☆☆☆☆ Found in Text Mining only