PTPN6 (protein tyrosine phosphatase non-receptor type 6)

Gene

• Entrez ID: 5777
• Gene name: Protein tyrosine phosphatase non-receptor type 6
• Gene symbol: PTPN6
• Synonyms (NCBI Gene): HCP, HCPH, HPTP1C, PTP-1C, SH-PTP1, SHP-1, SHP-1L, SHP1
• Chromosome: 12
• Chromosome location: 12p13.31
• 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
rs200900053	G>A	Conflicting-interpretations-of-pathogenicity	Intron variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT054334	hsa-miR-1225-3p	Microarray, qRT-PCR	23593351
MIRT1275735	hsa-miR-296-3p	CLIP-seq
MIRT1275736	hsa-miR-3150b-3p	CLIP-seq
MIRT1275737	hsa-miR-3154	CLIP-seq
MIRT1275738	hsa-miR-4434	CLIP-seq
MIRT1275739	hsa-miR-4516	CLIP-seq
MIRT1275740	hsa-miR-4699-3p	CLIP-seq
MIRT1275741	hsa-miR-4784	CLIP-seq
MIRT2604592	hsa-miR-1224-5p	CLIP-seq
MIRT2604593	hsa-miR-3065-3p	CLIP-seq
MIRT2604594	hsa-miR-3622a-3p	CLIP-seq
MIRT2604595	hsa-miR-3622b-3p	CLIP-seq
MIRT2604596	hsa-miR-3622b-5p	CLIP-seq
MIRT2604597	hsa-miR-4701-5p	CLIP-seq
MIRT2604598	hsa-miR-4751	CLIP-seq
MIRT2604599	hsa-miR-544b	CLIP-seq
MIRT2604600	hsa-miR-588	CLIP-seq
MIRT2604592	hsa-miR-1224-5p	CLIP-seq
MIRT2604593	hsa-miR-3065-3p	CLIP-seq
MIRT2604594	hsa-miR-3622a-3p	CLIP-seq
MIRT2604595	hsa-miR-3622b-3p	CLIP-seq
MIRT2604596	hsa-miR-3622b-5p	CLIP-seq
MIRT2604597	hsa-miR-4701-5p	CLIP-seq
MIRT2604598	hsa-miR-4751	CLIP-seq
MIRT2604599	hsa-miR-544b	CLIP-seq
MIRT2604600	hsa-miR-588	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
NFKB1	Unknown	18948549
NPM1	Activation	16825495
PKNOX1	Activation	20864515
RELA	Unknown	18948549
STAT3	Repression	14630083;16825495;21792937
STAT3	Unknown	15870198
USF1	Unknown	12071971
USF2	Unknown	12071971

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000165	Process	MAPK cascade	IBA
GO:0000165	Process	MAPK cascade	IEA
GO:0000278	Process	Mitotic cell cycle	IBA
GO:0001784	Function	Phosphotyrosine residue binding	IBA
GO:0001784	Function	Phosphotyrosine residue binding	IEA
GO:0001784	Function	Phosphotyrosine residue binding	IPI	11986327
GO:0002221	Process	Pattern recognition receptor signaling pathway	IDA	23910378
GO:0002244	Process	Hematopoietic progenitor cell differentiation	IEA
GO:0002283	Process	Neutrophil activation involved in immune response	ISS
GO:0002753	Process	Cytoplasmic pattern recognition receptor signaling pathway	IDA	29441066
GO:0002924	Process	Negative regulation of humoral immune response mediated by circulating immunoglobulin	IEA
GO:0004721	Function	Phosphoprotein phosphatase activity	IEA
GO:0004725	Function	Protein tyrosine phosphatase activity	IDA	17562706, 29925997
GO:0004725	Function	Protein tyrosine phosphatase activity	IEA
GO:0004725	Function	Protein tyrosine phosphatase activity	IMP	10206955, 17562706, 19749791
GO:0004725	Function	Protein tyrosine phosphatase activity	TAS
GO:0004726	Function	Non-membrane spanning protein tyrosine phosphatase activity	IBA
GO:0005001	Function	Transmembrane receptor protein tyrosine phosphatase activity	IDA	11266449
GO:0005515	Function	Protein binding	IPI	7228577, 7528537, 7528577, 8114715, 8574854, 8577729, 8627166, 8648092, 8691146, 8691154, 9148918, 9285411, 9603468, 9774457, 9842885, 10206955, 10540326, 10556798, 10660620, 10764762, 10887109, 11489943, 11907092, 12051764, 16254138, 16339535, 16493035, 17416557, 17562706, 17947393
GO:0005576	Component	Extracellular region	TAS
GO:0005634	Component	Nucleus	IDA	19838216
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005730	Component	Nucleolus	IDA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IDA	9065461
GO:0005737	Component	Cytoplasm	IDA	10940933, 19838216
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005886	Component	Plasma membrane	IDA	23896411
GO:0005911	Component	Cell-cell junction	IEA
GO:0006470	Process	Protein dephosphorylation	IDA	11266449
GO:0007186	Process	G protein-coupled receptor signaling pathway	TAS	7781604
GO:0008284	Process	Positive regulation of cell population proliferation	IMP	19749791, 19838216
GO:0008285	Process	Negative regulation of cell population proliferation	NAS	10497187
GO:0016020	Component	Membrane	TAS	10506221
GO:0016525	Process	Negative regulation of angiogenesis	IDA	23896411
GO:0016787	Function	Hydrolase activity	IEA
GO:0017124	Function	SH3 domain binding	IEA
GO:0018108	Process	Peptidyl-tyrosine phosphorylation	IDA	9285411, 18802077
GO:0019221	Process	Cytokine-mediated signaling pathway	TAS
GO:0019901	Function	Protein kinase binding	IPI	11266449
GO:0030154	Process	Cell differentiation	IBA
GO:0030154	Process	Cell differentiation	IDA	11266449
GO:0030220	Process	Platelet formation	IEA
GO:0031295	Process	T cell costimulation	IEA
GO:0031295	Process	T cell costimulation	TAS
GO:0031665	Process	Negative regulation of lipopolysaccharide-mediated signaling pathway	IEA
GO:0031665	Process	Negative regulation of lipopolysaccharide-mediated signaling pathway	ISS
GO:0032715	Process	Negative regulation of interleukin-6 production	IEA
GO:0032715	Process	Negative regulation of interleukin-6 production	ISS
GO:0032720	Process	Negative regulation of tumor necrosis factor production	IEA
GO:0032720	Process	Negative regulation of tumor necrosis factor production	ISS
GO:0032991	Component	Protein-containing complex	IMP	17562706
GO:0033007	Process	Negative regulation of mast cell activation involved in immune response	IEA
GO:0033630	Process	Positive regulation of cell adhesion mediated by integrin	IEA
GO:0035335	Process	Peptidyl-tyrosine dephosphorylation	IMP	17562706
GO:0035556	Process	Intracellular signal transduction	IEA
GO:0035580	Component	Specific granule lumen	TAS
GO:0035855	Process	Megakaryocyte development	IEA
GO:0042098	Process	T cell proliferation	IEA
GO:0042105	Component	Alpha-beta T cell receptor complex	IEA
GO:0042110	Process	T cell activation	IDA	38354704
GO:0042110	Process	T cell activation	IDA	38354704
GO:0042130	Process	Negative regulation of T cell proliferation	IEA
GO:0042169	Function	SH2 domain binding	IEA
GO:0042267	Process	Natural killer cell mediated cytotoxicity	IEA
GO:0042981	Process	Regulation of apoptotic process	TAS	10506221
GO:0043409	Process	Negative regulation of MAPK cascade	IEA
GO:0045577	Process	Regulation of B cell differentiation	IEA
GO:0045766	Process	Positive regulation of angiogenesis	IDA	23896411
GO:0045824	Process	Negative regulation of innate immune response	IDA	34811497
GO:0050839	Function	Cell adhesion molecule binding	IEA
GO:0050852	Process	T cell receptor signaling pathway	IEA
GO:0050853	Process	B cell receptor signaling pathway	IEA
GO:0050859	Process	Negative regulation of B cell receptor signaling pathway	IDA	35941532
GO:0050860	Process	Negative regulation of T cell receptor signaling pathway	IEA
GO:0051279	Process	Regulation of release of sequestered calcium ion into cytosol	IEA
GO:0051897	Process	Positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	IEA
GO:0051897	Process	Positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	IMP	19838216
GO:0060338	Process	Regulation of type I interferon-mediated signaling pathway	IEA
GO:0060338	Process	Regulation of type I interferon-mediated signaling pathway	TAS
GO:0070062	Component	Extracellular exosome	HDA	19056867, 20458337
GO:0070372	Process	Regulation of ERK1 and ERK2 cascade	IDA	11266449
GO:0070527	Process	Platelet aggregation	IEA
GO:0090594	Process	Inflammatory response to wounding	IDA	27830702
GO:0106015	Process	Negative regulation of inflammatory response to wounding	IDA	27830702
GO:0106015	Process	Negative regulation of inflammatory response to wounding	IEA
GO:0140031	Function	Phosphorylation-dependent protein binding	IPI	11162587, 12163025
GO:0160162	Process	CD27 signaling pathway	IDA	38354704
GO:0160162	Process	CD27 signaling pathway	IDA	38354704
GO:1900017	Process	Positive regulation of cytokine production involved in inflammatory response	IDA	8654373
GO:1902564	Process	Negative regulation of neutrophil activation	IDA	34234773
GO:1902564	Process	Negative regulation of neutrophil activation	IEA
GO:1904724	Component	Tertiary granule lumen	TAS
GO:1905867	Process	Epididymis development	IEA
GO:2000045	Process	Regulation of G1/S transition of mitotic cell cycle	IMP	19838216

Other IDs

• MIM: 176883
• HGNC: 9658
• e!Ensembl: ENSG00000111679

Protein

• UniProt ID: P29350
• Protein name: Tyrosine-protein phosphatase non-receptor type 6 (EC 3.1.3.48) (Hematopoietic cell protein-tyrosine phosphatase) (Protein-tyrosine phosphatase 1C) (PTP-1C) (Protein-tyrosine phosphatase SHP-1) (SH-PTP1)
• Protein function: Tyrosine phosphatase enzyme that plays important roles in controlling immune signaling pathways and fundamental physiological processes such as hematopoiesis (PubMed:14739280, PubMed:29925997). Dephosphorylates and negatively regulate several re
• PDB: 1FPR, 1GWZ, 1X6C, 2B3O, 2RMX, 2YU7, 3PS5, 4GRY, 4GRZ, 4GS0, 4HJP, 4HJQ, 6SM5, 8YHI
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00017	SH2	4 → 79	SH2 domain	Domain
  PF00017	SH2	110 → 194	SH2 domain	Domain
  PF00102	Y_phosphatase	270 → 514	Protein-tyrosine phosphatase	Domain

• Tissue specificity: TISSUE SPECIFICITY: Isoform 1 is expressed in hematopoietic cells. Isoform 2 is expressed in non-hematopoietic cells. {ECO:0000269|PubMed:1732748}.
• Sequence:

  MVRWFHRDLSGLDAETLLKGRGVHGSFLARPSRKNQGDFSLSVRVGDQVTHIRIQNSGDF
  YDLYGGEKFATLTELVEYYTQQQGVLQDRDGTIIHLKYPLNCSDPTSERWYHGHMSGGQA
  ETLLQAKGEPWTFLVRESLSQPGDFVLSVLSDQPKAGPGSPLRVTHIKVMCEGGRYTVGG
  LETFDSLTDLVEHFKKTGIEEASGAFVYLRQPYYATRVNAADIENRVLELNKKQESEDTA
  KAGFWEEFESLQKQEVKNLHQRLEGQRPENKGKNRYKNILPFDHSRVILQGRDSNIPGSD
  YINANYIKNQLLGPDENAKTYIASQGCLEATVNDFWQMAWQENSRVIVMTTREVEKGRNK
  CVPYWPEVGMQRAYGPYSVTNCGEHDTTEYKLRTLQVSPLDNGDLIREIWHYQYLSWPDH
  GVPSEPGGVLSFLDQINQRQESLPHAGPIIVHCSAGIGRTGTIIVIDMLMENISTKGLDC
  DIDIQKTIQMVRAQRSGMVQTEAQYKFIYVAIAQFIETTKKKLEVLQSQKGQESEYGNIT
  YPPAMKNAHAKASRTSSKHKEDVYENLHTKNKREEKVKKQRSADKEKSKGSLKRK

• Sequence length: 595

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Autism spectrum disorder	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BULLOUS PYODERMA GANGRENOSUM	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CALCINOSIS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CLASSIC PYODERMA GANGRENOSUM	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEART VALVE DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEART VALVE DISEASES	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEART VALVE PROLAPSE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SWEET SYNDROME	—	Disgenet, Orphanet Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VEGETATIVE PYODERMA GANGRENOSUM	—	Disgenet, Orphanet Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acute leukemia	Leukemia	BEFREE	14762685, 28408843		★☆☆☆☆ Found in Text Mining only
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	12438221, 14762685, 29793312		★☆☆☆☆ Found in Text Mining only
Acute Promyelocytic Leukemia	Promyelocytic Leukemia	BEFREE	30764849		★☆☆☆☆ Found in Text Mining only
Adult Acute Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	29793312		★☆☆☆☆ Found in Text Mining only
Adult Diffuse Large B-Cell Lymphoma	B-cell Lymphoma	BEFREE	14691303, 26498513, 26565811		★☆☆☆☆ Found in Text Mining only
Adult Oligodendroglioma	Oligodendroglioma	BEFREE	28924174		★☆☆☆☆ Found in Text Mining only
Adult T-Cell Lymphoma/Leukemia	T-Cell Lymphoma/Leukemia	LHGDN	14630083		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	39336795	Associate	★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	LHGDN	15579525		★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	28743735		★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	37426641	Associate	★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	18441283, 22371396		★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	Pubtator	22371396	Associate	★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	BEFREE	14729615, 28924174		★☆☆☆☆ Found in Text Mining only
Ataxia Telangiectasia	Ataxia telangiectasia	Pubtator	12591278	Associate	★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	28743735		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune disease	Pubtator	22458980	Inhibit	★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	23521885, 27216862, 29681901, 31616406		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune disease	Pubtator	31616406	Associate	★☆☆☆☆ Found in Text Mining only
Autoimmune hemolytic anemia	Autoimmune hemolytic anemia	BEFREE	19874234		★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	14691303, 15363033, 28210822, 31597758		★☆☆☆☆ Found in Text Mining only
Breast adenocarcinoma	Breast Adenocarcinoma	BEFREE	21719561		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	11054664, 12657462, 19749791, 21719561, 25635370, 28646512, 30594749		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	21719561, 23938089, 23948750, 35045088	Associate	★☆☆☆☆ Found in Text Mining only
Burkitt Lymphoma	Burkitt`s Lymphoma	BEFREE	24492847, 9348315		★☆☆☆☆ Found in Text Mining only
Burkitt Lymphoma	Burkitt lymphoma	Pubtator	32449435	Associate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	20424160	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	Pubtator	21719561	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	29506471, 7774833		★☆☆☆☆ Found in Text Mining only
Castleman Disease	Castleman disease	Pubtator	29496669	Associate	★☆☆☆☆ Found in Text Mining only
Central nervous system demyelination	Central Nervous System Demyelination	BEFREE	19398961, 19559654		★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	18543080		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervix carcinoma	Cervix carcinoma	BEFREE	18543080		★☆☆☆☆ Found in Text Mining only
Childhood Acute Lymphoblastic Leukemia	Lymphoblastic Leukemia	BEFREE	21592569, 29793312		★☆☆☆☆ Found in Text Mining only
Childhood Oligodendroglioma	Oligodendroglioma	BEFREE	28924174		★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	BEFREE	29029413, 29794468		★☆☆☆☆ Found in Text Mining only
Chronic leukemia (category)	Leukemia	BEFREE	19543515		★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	28619847, 31817171		★☆☆☆☆ Found in Text Mining only
Chronic myeloproliferative disorder	Myeloproliferative disorder	BEFREE	18318760, 24131863, 25824741		★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	BEFREE	29233151		★☆☆☆☆ Found in Text Mining only
CNS disorder	CNS Disorder	BEFREE	29113698		★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	19551406		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	21520296, 27580057, 29288235		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	29693170	Associate	★☆☆☆☆ Found in Text Mining only
Congenital contractural arachnodactyly	Congenital Contractural Arachnodactyly	BEFREE	29794468		★☆☆☆☆ Found in Text Mining only
Congenital neutropenia	Congenital Neutropenia	BEFREE	10378893		★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	27814644		★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	28692056		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	BEFREE	23406209		★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic fibrosis	Pubtator	35782124	Associate	★☆☆☆☆ Found in Text Mining only
Demyelinating Diseases	Demyelinating diseases	Pubtator	18209728, 19398961	Associate	★☆☆☆☆ Found in Text Mining only
Demyelinating Diseases	Demyelinating Diseases	BEFREE	25919645		★☆☆☆☆ Found in Text Mining only
Dermatitis, Atopic	Dermatitis	BEFREE	24412367		★☆☆☆☆ Found in Text Mining only
Dermatologic disorders	Dermatologic Disorders	BEFREE	21406173		★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	12181644, 24407239, 25404734, 29182380, 29582538		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	12181644, 24407239, 25404734, 28742983, 29074590, 29182380, 29582538		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	31490104		★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathy	Diabetic Nephropathy	BEFREE	29068796		★☆☆☆☆ Found in Text Mining only
Diffuse Large B-Cell Lymphoma	Diffuse Lymphoma	BEFREE	14691303, 23979523, 26498513, 26565811		★☆☆☆☆ Found in Text Mining only
Eczema	Eczema	BEFREE	24412367		★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	26597461, 28187032		★☆☆☆☆ Found in Text Mining only
Epithelial ovarian cancer	Ovarian cancer	BEFREE	7774833		★☆☆☆☆ Found in Text Mining only
Epithelioma	Epithelioma	BEFREE	21719561		★☆☆☆☆ Found in Text Mining only
Esophageal carcinoma	Esophageal Carcinoma	BEFREE	30816454		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophagus Neoplasm	BEFREE	30816454		★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty Liver	BEFREE	27661118		★☆☆☆☆ Found in Text Mining only
GATA2 Deficiency	Gata2 deficiency	Pubtator	11583976	Inhibit	★☆☆☆☆ Found in Text Mining only
GATA2 Deficiency	Gata2 deficiency	Pubtator	25614448, 32732362	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	29961065		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	29961065		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	24510345	Associate	★☆☆☆☆ Found in Text Mining only
Hashimoto Disease	Hashimoto disease	Pubtator	34522174	Associate	★☆☆☆☆ Found in Text Mining only
Heart valve disease	Cardiac valvular disease	CTD_human_DG	21335463		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hematologic Neoplasms	Hematologic neoplasm	Pubtator	17540846	Associate	★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic neoplasm	Pubtator	18948549, 22960265	Inhibit	★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic Neoplasms	BEFREE	27959415		★☆☆☆☆ Found in Text Mining only
Hereditary Coproporphyria	Hereditary Coproporphyria	BEFREE	31153822		★☆☆☆☆ Found in Text Mining only
Histiocytosis, Langerhans-Cell	Histiocytosis	BEFREE	25889448		★☆☆☆☆ Found in Text Mining only
Hyperinsulinism	Hyperinsulinism	BEFREE	11596667, 24904114		★☆☆☆☆ Found in Text Mining only
Inflammatory dermatosis	Dermatitis	BEFREE	21160041, 28410990		★☆☆☆☆ Found in Text Mining only
Juvenile Myelomonocytic Leukemia	Myelomonocytic Leukemia	BEFREE	10609786		★☆☆☆☆ Found in Text Mining only
Kaposi Sarcoma	Kaposi Sarcoma	BEFREE	26246572		★☆☆☆☆ Found in Text Mining only
Ki-1+ Anaplastic Large Cell Lymphoma	Anaplastic Lymphoma	BEFREE	16469875, 16825495		★☆☆☆☆ Found in Text Mining only
Kidney Failure Chronic	Kidney failure	Pubtator	30212930	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	11583976	Inhibit	★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	12438221, 14691303, 15580314, 16389548, 25824741		★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	LHGDN	12438221, 14691303		★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	15574429, 26547689, 40255396	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Promyelocytic Acute	Promyelocytic leukemia	Pubtator	8197173	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	11001933, 14762685, 15801956, 18318760, 19543515, 25915125, 26547689, 29572158, 30764849		★☆☆☆☆ Found in Text Mining only
Leukemia, T-Cell	T-cell leukemia	BEFREE	14630083		★☆☆☆☆ Found in Text Mining only
Lipodystrophy	Lipodystrophy	BEFREE	12181644		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	16618406, 22180308, 23392173, 24275147, 24735751, 24952874, 25047655, 25322871, 27580057, 28714962, 29466992, 31114345, 31619257		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus	Lupus Erythematosus	BEFREE	30498494		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Discoid	Lupus Erythematosus	BEFREE	30498494		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	21395509, 30498494		★☆☆☆☆ Found in Text Mining only
Lupus Vulgaris	Lupus Vulgaris	BEFREE	30498494		★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	11583976, 12438221, 12657462, 14691303, 16389548		★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	LHGDN	12438221, 14691303		★☆☆☆☆ Found in Text Mining only
Lymphoma, Follicular	Lymphoma	BEFREE	14691303		★☆☆☆☆ Found in Text Mining only
Lymphoma, Non-Hodgkin	Non-Hodgkin lymphoma	BEFREE	28210822, 30470842		★☆☆☆☆ Found in Text Mining only
Lymphoma, Non-Hodgkin, Familial	Lymphoma	BEFREE	30470842		★☆☆☆☆ Found in Text Mining only
Lymphoma, T-Cell, Cutaneous	Lymphoma	LHGDN	12130517, 17239936		★☆☆☆☆ Found in Text Mining only
Lymphoproliferative Disorders	Lymphoproliferative syndrome	Pubtator	12429820	Associate	★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	BEFREE	29157207		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	11054664, 12657462, 19749791, 21719561, 25635370, 28646512, 30594749		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of endometrium	Endometrial Cancer	BEFREE	28187032		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of esophagus	Esophagus Neoplasm	BEFREE	30816454		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	29506471, 7774833		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	12657462, 20687222		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	22937084, 24987055		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	12145687, 12591278, 15801956, 25301089, 26547689, 27216862, 27364975, 27401153, 28594363, 28599500, 30816454, 30823936, 31597758		★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	18543080		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	19551406		★☆☆☆☆ Found in Text Mining only
Mastocytosis, Systemic	Mastocytosis	BEFREE	15784688		★☆☆☆☆ Found in Text Mining only
Medullary carcinoma	Megalencephaly, Polymicrogyria, Polydactyly, Hydrocephalus Syndrome	LHGDN	15746253		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	21357539		★☆☆☆☆ Found in Text Mining only
Monoclonal Gammopathy of Undetermined Significance	Monoclonal Gammapathies	BEFREE	15580314, 17213358		★☆☆☆☆ Found in Text Mining only
Mucosa-Associated Lymphoid Tissue Lymphoma	Mucosa-associated lymphoma	BEFREE	14691303		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	LHGDN	14976049		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	15580314, 17213358, 28369102, 31130718		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	17213358, 19147543, 19937797, 26545722	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	18209728, 19398961, 19559654, 22458980		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	LHGDN	18209728		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple sclerosis	Pubtator	18209728, 19398961, 22458980	Inhibit	★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple sclerosis	Pubtator	19398961, 19559654	Associate	★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	BEFREE	15801956, 22258937, 31308061		★☆☆☆☆ Found in Text Mining only
Myelodysplastic Syndromes	Myelodysplastic syndrome	Pubtator	15541478, 15953006	Associate	★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia, Chronic	Myeloid Leukemia	BEFREE	17503411, 19543515, 21821701, 22553146, 24647617, 26373709, 28376405, 28480959, 28599500, 28789344, 30622586		★☆☆☆☆ Found in Text Mining only
Myeloproliferative disease	Myeloproliferative disorder	BEFREE	24131863, 25824741		★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	BEFREE	25681345		★☆☆☆☆ Found in Text Mining only
Myositis	Myositis	BEFREE	25681345		★☆☆☆☆ Found in Text Mining only
Myositis Ossificans	Myositis Ossificans	BEFREE	25681345		★☆☆☆☆ Found in Text Mining only
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	BEFREE	22296674, 25109634, 25962492, 26081980, 26215037, 26473472		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	12657462, 14691303, 15363033, 17213358, 19514839, 19937797, 21520296, 22926753, 22962271, 23392173, 23979523, 24197988, 24647617, 24903225, 24987055, 25047655, 26547689, 26565811, 26597461, 27959415, 28084011, 28187032, 28410990, 28465325, 28480959, 28692056, 29288235, 29409467, 30470842, 30594749, 30816454, 31268558		★☆☆☆☆ Found in Text Mining only
Nervous System Diseases	Nervous system disease	Pubtator	18209728	Associate	★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	30594749		★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	27216862		★☆☆☆☆ Found in Text Mining only
Niemann-Pick Disease, Type C	Niemann-Pick Disease	BEFREE	25962492		★☆☆☆☆ Found in Text Mining only
Non-alcoholic Fatty Liver Disease	Non-Alcoholic Fatty Liver Disease	BEFREE	29091299		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	21964525, 23842094, 27401153		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	12181644		★☆☆☆☆ Found in Text Mining only
oligodendroglioma	Oligodendroglioma	BEFREE	28924174		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	22926753		★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	29506471		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	29298416		★☆☆☆☆ Found in Text Mining only
Peripheral T-Cell Lymphoma	T-Cell Lymphoma	BEFREE	30420593		★☆☆☆☆ Found in Text Mining only
Polycythemia Vera	Polycythemia Vera	BEFREE	10390187, 9121771, 9414643		★☆☆☆☆ Found in Text Mining only
Precursor Cell Lymphoblastic Leukemia Lymphoma	Lymphoblastic Leukemia	BEFREE	12438221		★☆☆☆☆ Found in Text Mining only
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma	Lymphoblastic Leukemia	BEFREE	30273928		★☆☆☆☆ Found in Text Mining only
Primary central nervous system lymphoma	Central Nervous System Lymphoma	BEFREE	27959415		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	12657462, 20687222, 25635370		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	BEFREE	21357539		★☆☆☆☆ Found in Text Mining only
prostatitis	Prostatitis	BEFREE	30549073		★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	BEFREE	16389548		★☆☆☆☆ Found in Text Mining only
Pulmonary Emphysema	Pulmonary Emphysema	BEFREE	31000475		★☆☆☆☆ Found in Text Mining only
Pyoderma Gangrenosum	Pyoderma Gangrenosum	BEFREE	21406173		★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	28692056		★☆☆☆☆ Found in Text Mining only
Renal fibrosis	Renal fibrosis	BEFREE	29097680		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	24793756		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	PSYGENET_DG	24793756		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Secondary malignant neoplasm of colon and/or rectum	Colorectal Neoplasms	BEFREE	27580057		★☆☆☆☆ Found in Text Mining only
Sezary Syndrome	Sezary Syndrome	LHGDN	12130517		★☆☆☆☆ Found in Text Mining only
Sezary Syndrome	Sezary Syndrome	BEFREE	12145687, 21818116		★☆☆☆☆ Found in Text Mining only
SHORT STATURE, IDIOPATHIC, X-LINKED	SHORT STATURE, IDIOPATHIC, X-LINKED	BEFREE	23729600		★☆☆☆☆ Found in Text Mining only
Skin lesion	Skin Lesion	BEFREE	16389548, 27020408		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	19836067		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	30816454		★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	BEFREE	27661118		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	22937084, 24987055		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	24838641, 26508024	Associate	★☆☆☆☆ Found in Text Mining only
Sweet Syndrome	Sweet Syndrome	BEFREE	21406173		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
T-Cell Lymphoma	T-Cell Lymphoma	BEFREE	11021818, 22962271		★☆☆☆☆ Found in Text Mining only
Testicular Germ Cell Tumor	Testicular germ cell tumor	Pubtator	39367146	Associate	★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	27364975, 28084011, 28798401		★☆☆☆☆ Found in Text Mining only
Tumoral calcinosis	Tumoral Calcinosis	CTD_human_DG	21335463		★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	BEFREE	23406209		★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	32454905, 36211821	Associate	★☆☆☆☆ Found in Text Mining only
Vitiligo	Vitiligo	Pubtator	28129744	Associate	★☆☆☆☆ Found in Text Mining only
Well Differentiated Oligodendroglioma	Oligodendroglioma	BEFREE	28924174		★☆☆☆☆ Found in Text Mining only
X-Linked Lymphoproliferative Disorder	Lymphoproliferative Syndrome, X-Linked	BEFREE	19759517		★☆☆☆☆ Found in Text Mining only