B3GAT1 (beta-1,3-glucuronyltransferase 1)

Gene

• Entrez ID: 27087
• Gene name: Beta-1,3-glucuronyltransferase 1
• Gene symbol: B3GAT1
• Synonyms (NCBI Gene): CD57, GLCATP, GLCUATP, HNK1, LEU7, NK-1, NK1
• Chromosome: 11
• Chromosome location: 11q25
• Summary: The protein encoded by this gene is a member of the glucuronyltransferase gene family. These enzymes exhibit strict acceptor specificity, recognizing nonreducing terminal sugars and their anomeric linkages. This gene product functions as the key enzyme in

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT021807	hsa-miR-132-3p	Microarray	17612493
MIRT813106	hsa-miR-1225-3p	CLIP-seq
MIRT813107	hsa-miR-1233	CLIP-seq
MIRT813108	hsa-miR-147	CLIP-seq
MIRT813109	hsa-miR-1915	CLIP-seq
MIRT813110	hsa-miR-3140-5p	CLIP-seq
MIRT813111	hsa-miR-3162-5p	CLIP-seq
MIRT813112	hsa-miR-3646	CLIP-seq
MIRT813113	hsa-miR-3647-3p	CLIP-seq
MIRT813114	hsa-miR-3662	CLIP-seq
MIRT813115	hsa-miR-3911	CLIP-seq
MIRT813116	hsa-miR-3973	CLIP-seq
MIRT813117	hsa-miR-4419a	CLIP-seq
MIRT813118	hsa-miR-4459	CLIP-seq
MIRT813119	hsa-miR-4494	CLIP-seq
MIRT813120	hsa-miR-4510	CLIP-seq
MIRT813121	hsa-miR-4528	CLIP-seq
MIRT813122	hsa-miR-4653-3p	CLIP-seq
MIRT813123	hsa-miR-4663	CLIP-seq
MIRT813124	hsa-miR-4722-5p	CLIP-seq
MIRT813125	hsa-miR-4779	CLIP-seq
MIRT813126	hsa-miR-486-3p	CLIP-seq
MIRT813127	hsa-miR-488	CLIP-seq
MIRT813128	hsa-miR-520g	CLIP-seq
MIRT813129	hsa-miR-520h	CLIP-seq
MIRT813130	hsa-miR-582-5p	CLIP-seq
MIRT813131	hsa-miR-644	CLIP-seq
MIRT813132	hsa-miR-4742-3p	CLIP-seq
MIRT813133	hsa-miR-4775	CLIP-seq
MIRT813134	hsa-miR-548a-3p	CLIP-seq
MIRT813135	hsa-miR-548e	CLIP-seq
MIRT813136	hsa-miR-548f	CLIP-seq
MIRT813137	hsa-miR-548g	CLIP-seq
MIRT813138	hsa-miR-590-3p	CLIP-seq
MIRT1940375	hsa-miR-1827	CLIP-seq
MIRT1940376	hsa-miR-3150a-3p	CLIP-seq
MIRT1940377	hsa-miR-3175	CLIP-seq
MIRT1940378	hsa-miR-939	CLIP-seq
MIRT2179290	hsa-miR-1976	CLIP-seq
MIRT2179291	hsa-miR-3124-3p	CLIP-seq
MIRT2179292	hsa-miR-3978	CLIP-seq
MIRT2179293	hsa-miR-665	CLIP-seq
MIRT2444556	hsa-miR-1913	CLIP-seq
MIRT2444557	hsa-miR-324-3p	CLIP-seq
MIRT2444556	hsa-miR-1913	CLIP-seq
MIRT2444557	hsa-miR-324-3p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000139	Component	Golgi membrane	IBA
GO:0000139	Component	Golgi membrane	IEA
GO:0000139	Component	Golgi membrane	ISS
GO:0000139	Component	Golgi membrane	TAS
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005576	Component	Extracellular region	IEA
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	ISS
GO:0005794	Component	Golgi apparatus	IEA
GO:0005975	Process	Carbohydrate metabolic process	IBA
GO:0005975	Process	Carbohydrate metabolic process	TAS	10783264
GO:0006024	Process	Glycosaminoglycan biosynthetic process	IEA
GO:0006486	Process	Protein glycosylation	IEA
GO:0008542	Process	Visual learning	IEA
GO:0015018	Function	Galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity	IBA
GO:0015018	Function	Galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity	IEA
GO:0015018	Function	Galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity	ISS
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	TAS	10783264
GO:0016740	Function	Transferase activity	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0050650	Process	Chondroitin sulfate proteoglycan biosynthetic process	IBA

Other IDs

• MIM: 151290
• HGNC: 921
• e!Ensembl: ENSG00000109956

Protein

• UniProt ID: Q9P2W7
• Protein name: Galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 1 (EC 2.4.1.135) (Beta-1,3-glucuronyltransferase 1) (Glucuronosyltransferase P) (GlcAT-P) (UDP-GlcUA:glycoprotein beta-1,3-glucuronyltransferase) (GlcUAT-P)
• Protein function: Involved in the biosynthesis of L2/HNK-1 carbohydrate epitope on glycoproteins. Can also play a role in glycosaminoglycan biosynthesis. Substrates include asialo-orosomucoid (ASOR), asialo-fetuin, and asialo-neural cell adhesion molecule. Requir
• PDB: 1V82, 1V83, 1V84
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF03360	Glyco_transf_43	105 → 315	Glycosyltransferase family 43	Family

• Tissue specificity: TISSUE SPECIFICITY: Mainly expressed in the brain.
• Sequence:

  MPKRRDILAIVLIVLPWTLLITVWHQSTLAPLLAVHKDEGSDPRRETPPGADPREYCTSD
  RDIVEVVRTEYVYTRPPPWSDTLPTIHVVTPTYSRPVQKAELTRMANTLLHVPNLHWLVV
  EDAPRRTPLTARLLRDTGLNYTHLHVETPRNYKLRGDARDPRIPRGTMQRNLALRWLRET
  FPRNSSQPGVVYFADDDNTYSLELFEEMRSTRRVSVWPVAFVGGLRYEAPRVNGAGKVVG
  WKTVFDPHRPFAIDMAGFAVNLRLILQRSQAYFKLRGVKGGYQESSLLRELVTLNDLEPK
  AANCTKILVWHTRTEKPVLVNEGKKGFTDPSVEI

• Sequence length: 334

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
INSOMNIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG ADENOCARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-ALCOHOLIC FATTY LIVER DISEASE	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NONALCOHOLIC STEATOHEPATITIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CANCER, FAMILIAL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
ACTIVATED PI3K-DELTA SYNDROME	ACTIVATED PI3K-DELTA SYNDROME	BEFREE	29790605		★☆☆☆☆ Found in Text Mining only
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	15626024, 21120581, 3487974		★☆☆☆☆ Found in Text Mining only
Adult Acute Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	15626024, 21120581, 3487974		★☆☆☆☆ Found in Text Mining only
Adult Hodgkin Lymphoma	Hodgkin Lymphoma	BEFREE	16353293		★☆☆☆☆ Found in Text Mining only
Agenesis of corpus callosum	Agenesis Of Corpus Callosum	BEFREE	17824792		★☆☆☆☆ Found in Text Mining only
Alport Syndrome	Alport Syndrome	BEFREE	2654472		★☆☆☆☆ Found in Text Mining only
Anaplastic carcinoma	Anaplastic Carcinoma	BEFREE	11740050		★☆☆☆☆ Found in Text Mining only
Anemia Aplastic	Aplastic anemia	Pubtator	11698122, 29419434	Associate	★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	BEFREE	15845098		★☆☆☆☆ Found in Text Mining only
Anxiety Disorders	Anxiety Disorder	BEFREE	15845098		★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm Thoracic	Thoracic aortic aneurysm	Pubtator	23868000	Stimulate	★☆☆☆☆ Found in Text Mining only
Aplasia Cutis Congenita	Aplasia Cutis Congenita	BEFREE	17824792		★☆☆☆☆ Found in Text Mining only
Apraxia, Developmental Verbal	Apraxia	BEFREE	21677140		★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	22102879, 2972742	Associate	★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	19803739		★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	BEFREE	15913794		★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorder	Autism	Pubtator	37894820	Associate	★☆☆☆☆ Found in Text Mining only
Autoimmune Lymphoproliferative Syndrome	Autoimmune Lymphoproliferative Disorder	BEFREE	11588044, 12657942		★☆☆☆☆ Found in Text Mining only
Autoimmune Lymphoproliferative Syndrome	Autoimmune lymphoproliferative disorder	Pubtator	11588044	Associate	★☆☆☆☆ Found in Text Mining only
Bone Diseases	Bone Disease	BEFREE	19794085		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	25175857		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	34386013, 39235656	Associate	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	36763585	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	32439976	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	11740050		★☆☆☆☆ Found in Text Mining only
Carcinoma Endometrioid	Endometrioid carcinoma	Pubtator	27465886	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	1718595		★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	17425399	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Neuroendocrine	Carcinoma	BEFREE	25674291		★☆☆☆☆ Found in Text Mining only
Carcinomatosis of peritoneal cavity	Peritoneal Carcinomatosis	BEFREE	31497016		★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	Pubtator	12118194	Stimulate	★☆☆☆☆ Found in Text Mining only
CATARACT, MARNER TYPE	Cataract	BEFREE	31738061		★☆☆☆☆ Found in Text Mining only
Celiac Disease	Celiac disease	BEFREE	28456719		★☆☆☆☆ Found in Text Mining only
Childhood Acute Lymphoblastic Leukemia	Lymphoblastic Leukemia	BEFREE	15626024, 21120581, 3487974		★☆☆☆☆ Found in Text Mining only
Cholangitis Sclerosing	Sclerosing cholangitis	Pubtator	36059513	Inhibit	★☆☆☆☆ Found in Text Mining only
Chronic Disease	Chronic disease	Pubtator	30949182	Associate	★☆☆☆☆ Found in Text Mining only
Chronic kidney disease stage 5	Kidney Disease	BEFREE	2654472		★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	BEFREE	27926546, 30202981		★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	9013995		★☆☆☆☆ Found in Text Mining only
Chronic Lymphoproliferative Disorder of NK-Cells	Lymphoproliferative Disorder Of Natural Killer Cells	BEFREE	28431200		★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	15363095	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	18174257, 29843798, 29970545		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	14968119	Associate	★☆☆☆☆ Found in Text Mining only
Common Variable Immunodeficiency	Common variable immunodeficiency	Pubtator	1395097, 17223965, 3289139	Associate	★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	17145892		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	Pubtator	14535969	Associate	★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	27062409		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	Pubtator	40508061	Inhibit	★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	18054939		★☆☆☆☆ Found in Text Mining only
Coronary Stenosis	Coronary stenosis	Pubtator	40508061	Associate	★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	9572640		★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	15845098, 28753469		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	30941121	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 1	Diabetes mellitus, type 1	Pubtator	29851415	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	29851415		★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down Syndrome	BEFREE	1825795		★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down syndrome	Pubtator	6235075	Associate	★☆☆☆☆ Found in Text Mining only
Epidermolysis Bullosa	Epidermolysis Bullosa	BEFREE	31541747		★☆☆☆☆ Found in Text Mining only
Ewings sarcoma-primitive neuroectodermal tumor (PNET)	Ewing sarcoma	BEFREE	10492040		★☆☆☆☆ Found in Text Mining only
Fatigue Syndrome Chronic	Fatigue syndrome	Pubtator	26381393	Associate	★☆☆☆☆ Found in Text Mining only
Gastroparesis	Gastroparesis	BEFREE	28814387		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	30301182		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	30301182		★☆☆☆☆ Found in Text Mining only
Graft vs Host Disease	Graft-versus-host disease	Pubtator	18925328, 33226726	Associate	★☆☆☆☆ Found in Text Mining only
Graft-vs-Host Disease	Graft-Vs-Host Disease	BEFREE	12296868		★☆☆☆☆ Found in Text Mining only
Graves Ophthalmopathy	Graves ophthalmopathy	Pubtator	35896115	Associate	★☆☆☆☆ Found in Text Mining only
Hairy Cell Leukemia	Hairy Cell Leukemia	BEFREE	16311729		★☆☆☆☆ Found in Text Mining only
Hematologic Diseases	Hematologic disease	Pubtator	24618699	Associate	★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic neoplasm	Pubtator	20385876	Associate	★☆☆☆☆ Found in Text Mining only
Hepatitis B Chronic	Hepatitis b	Pubtator	15048597	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary nephritis	Hereditary Nephritis	BEFREE	2654472		★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin Disease	BEFREE	16353293, 8750633		★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin disease	Pubtator	17158640, 20063524, 6370286, 8966716	Associate	★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	18054939, 31504461		★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Idiopathic pulmonary fibrosis	Pubtator	37544465	Associate	★☆☆☆☆ Found in Text Mining only
Immune System Diseases	Immune system disease	Pubtator	1373086, 20525712	Associate	★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	19803739		★☆☆☆☆ Found in Text Mining only
Inflammatory Breast Carcinoma	Breast Cancer	BEFREE	24992172		★☆☆☆☆ Found in Text Mining only
Kidney Failure Chronic	Kidney failure	Pubtator	29027667	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Failure, Chronic	Kidney Failure	BEFREE	2654472		★☆☆☆☆ Found in Text Mining only
Leiomyosarcoma	Leiomyosarcoma	Pubtator	3103455	Associate	★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	11167801, 30151740		★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	2433811, 2846089, 30949182, 6187398	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Hairy Cell	Hairy cell leukemia	Pubtator	16311729, 3742880	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Large Granular Lymphocytic	Lymphoblastic Leukemia	BEFREE	11757730, 14978699, 27483437		★☆☆☆☆ Found in Text Mining only
Leukopenia	Leukopenia	BEFREE	21617700		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis Biliary	Liver cirrhosis	Pubtator	21735469	Associate	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	26711627, 35981786	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	33475152	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	35172900	Inhibit	★☆☆☆☆ Found in Text Mining only
Lymphocytosis	Lymphocytosis	BEFREE	30151740, 9519776, 9550427		★☆☆☆☆ Found in Text Mining only
Lymphohistiocytosis Hemophagocytic	Hemophagocytic lymphohistiocytosis	Pubtator	23287865, 27925643	Associate	★☆☆☆☆ Found in Text Mining only
Lymphohistiocytosis, Hemophagocytic	Lymphohistiocytosis	BEFREE	27925643		★☆☆☆☆ Found in Text Mining only
Lymphoid leukemia	Lymphoid leukemia	BEFREE	8543842		★☆☆☆☆ Found in Text Mining only
Lymphoma Follicular	Lymphoma	Pubtator	10936786, 37591873, 6370286	Associate	★☆☆☆☆ Found in Text Mining only
Lymphopenia	Lymphopenia	BEFREE	10583444		★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	BEFREE	28753469		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	25175857		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of esophagus	Esophagus Neoplasm	BEFREE	29414812		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	1718595		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	10398281, 16397273, 18174257, 21034671, 22507622, 29928332, 31369187, 7514367, 8543842		★☆☆☆☆ Found in Text Mining only
Mastocytosis	Mastocytosis	Pubtator	27086366	Associate	★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	11454001, 18802400, 22307139, 35046061, 37620327	Associate	★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	15889254	Stimulate	★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	LHGDN	18802400		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	24548567, 27458061		★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	BEFREE	15845098, 28753469		★☆☆☆☆ Found in Text Mining only
Mental disorders	Mental Disorders	BEFREE	27621226		★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome	Metabolic syndrome	Pubtator	36865544	Associate	★☆☆☆☆ Found in Text Mining only
Metastatic melanoma	Metastatic Melanoma	BEFREE	27458061		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	11675356, 30128739, 9504628	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	12107563, 20190191, 23355208, 28792255		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple sclerosis	Pubtator	28767147	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	29528545		★☆☆☆☆ Found in Text Mining only
Myasthenia Gravis	Myasthenia Gravis	BEFREE	17323412		★☆☆☆☆ Found in Text Mining only
Myasthenia Gravis	Myasthenia gravis	Pubtator	17323412, 8286826	Associate	★☆☆☆☆ Found in Text Mining only
Myasthenic Syndromes, Congenital	Myasthenic Syndrome	BEFREE	29700358		★☆☆☆☆ Found in Text Mining only
Myelodysplastic Syndromes	Myelodysplastic syndrome	Pubtator	11698122	Stimulate	★☆☆☆☆ Found in Text Mining only
Myelodysplastic Syndromes	Myelodysplastic syndrome	Pubtator	12358908, 27481108	Associate	★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia, Chronic	Myeloid Leukemia	BEFREE	30151740		★☆☆☆☆ Found in Text Mining only
MYELOPROLIFERATIVE DISORDER, CHRONIC, WITH EOSINOPHILIA	Myeloproliferative Disorder with Eosinophilia	BEFREE	30523401		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial infarction	Pubtator	25152079	Associate	★☆☆☆☆ Found in Text Mining only
Myocarditis	Myocarditis	Pubtator	38521068	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	10398281, 14565660, 22900004, 27458061, 27925298, 28549420, 29843798, 31531023, 31572357		★☆☆☆☆ Found in Text Mining only
Neurilemmoma	Neurilemmoma	BEFREE	27925298		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	18630512, 22900004, 26738850, 9792616		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	18630512	Associate	★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	26738850		★☆☆☆☆ Found in Text Mining only
Neuroendocrine Tumors	Neuroendocrine Tumors	LHGDN	12687271		★☆☆☆☆ Found in Text Mining only
Neuroendocrine Tumors	Neuroendocrine Tumors	BEFREE	1701450		★☆☆☆☆ Found in Text Mining only
Neurofibromatosis 1	Neurofibromatosis	Pubtator	27448806	Associate	★☆☆☆☆ Found in Text Mining only
Neurofibrosarcoma	Neurofibrosarcoma	Pubtator	3103455	Associate	★☆☆☆☆ Found in Text Mining only
Neuropathy	Neuropathy	BEFREE	28709864, 31089861, 31654362, 9792616		★☆☆☆☆ Found in Text Mining only
Neutropenia	Neutropenia	Pubtator	10765928	Associate	★☆☆☆☆ Found in Text Mining only
Neutropenia	Neutropenia	BEFREE	21617700		★☆☆☆☆ Found in Text Mining only
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Classical Hodgkin lymphoma	BEFREE	16353293		★☆☆☆☆ Found in Text Mining only
Non-alcoholic Fatty Liver Disease	Non-Alcoholic Fatty Liver Disease	CTD_human_DG	24211274		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	31843013		★☆☆☆☆ Found in Text Mining only
Nonalcoholic Steatohepatitis	Non-alcoholic Fatty Liver Disease	CTD_human_DG	24211274		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonketotic Hyperglycinemia	Nonketotic Hyperglycinemia	BEFREE	2013671		★☆☆☆☆ Found in Text Mining only
Nonorganic psychosis	Nonorganic Psychosis	BEFREE	12874601		★☆☆☆☆ Found in Text Mining only
Osteofibrous Dysplasia	Osteofibrous Dysplasia	BEFREE	11727265		★☆☆☆☆ Found in Text Mining only
Papilloma	Papilloma	BEFREE	19861144		★☆☆☆☆ Found in Text Mining only
Papilloma	Papilloma	Pubtator	19861144	Associate	★☆☆☆☆ Found in Text Mining only
Paraproteinemias	Paraproteinemia	BEFREE	28709864		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	29807534		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	29807534	Associate	★☆☆☆☆ Found in Text Mining only
Peritoneal Neoplasms	Peritoneal neoplasm	Pubtator	31497016	Associate	★☆☆☆☆ Found in Text Mining only
Polyneuropathy	Polyneuropathy	BEFREE	31654362		★☆☆☆☆ Found in Text Mining only
Post-Traumatic Stress Disorder	Stress Disorder	BEFREE	26619809		★☆☆☆☆ Found in Text Mining only
Precursor Cell Lymphoblastic Leukemia Lymphoma	Lymphoblastic Leukemia	BEFREE	15626024		★☆☆☆☆ Found in Text Mining only
Precursor Cell Lymphoblastic Leukemia Lymphoma	Lymphoblastic Leukemia	LHGDN	15626024		★☆☆☆☆ Found in Text Mining only
Primary biliary cirrhosis	Biliary Cirrhosis	BEFREE	12654131, 21735469		★☆☆☆☆ Found in Text Mining only
Primary sclerosing cholangitis	Sclerosing Cholangitis	BEFREE	24744588		★☆☆☆☆ Found in Text Mining only
Prostate cancer, familial	Prostate cancer	CTD_human_DG	29892016		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CANCER, HEREDITARY, 1	Prostate Cancer, Hereditary	CTD_human_DG	29892016		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	GWASCAT_DG	29892016		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Neoplasms	Prostatic Neoplasms	BEFREE	10398281		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	15509525, 24977150, 7686713	Associate	★☆☆☆☆ Found in Text Mining only
Psychotic Disorders	Psychosis	BEFREE	12874601		★☆☆☆☆ Found in Text Mining only
Psychotic Disorders	Psychosis	LHGDN	12874601		★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	20525712	Associate	★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	17145892		★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal Diseases	BEFREE	10926322		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	10189055, 2317110, 8543842, 9041935, 9572640		★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	Pubtator	3103455	Associate	★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	BEFREE	9210489		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	12874601, 16815618, 20950796		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	LHGDN	12874601		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	PSYGENET_DG	20950796		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Severe Combined Immunodeficiency	Severe combined immunodeficiency	Pubtator	3907904	Associate	★☆☆☆☆ Found in Text Mining only
Sleep Apnea, Obstructive	Sleep Apnea	BEFREE	17667845		★☆☆☆☆ Found in Text Mining only
Small cell carcinoma of lung	Lung carcinoma	BEFREE	1701450		★☆☆☆☆ Found in Text Mining only
Small Cell Lung Carcinoma	Small cell lung carcinoma	Pubtator	1701450	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	21475039, 30803857		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	32439976	Associate	★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach Neoplasms	LHGDN	12883721		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	34952595, 36916290	Associate	★☆☆☆☆ Found in Text Mining only
T-Cell Large Granular Lymphocyte Leukemia	T-cell Lymphocytic Leukemia	BEFREE	11757730, 18086899, 21617700		★☆☆☆☆ Found in Text Mining only
Thyroid Diseases	Thyroid disease	Pubtator	32146798	Associate	★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	39643914	Associate	★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	BEFREE	21342363		★☆☆☆☆ Found in Text Mining only
Unipolar Depression	Mental Depression	BEFREE	28753469		★☆☆☆☆ Found in Text Mining only
Uveal melanoma	Uveal melanoma	Pubtator	18802400	Associate	★☆☆☆☆ Found in Text Mining only
Uveal melanoma	Uveal Melanoma	BEFREE	24548567		★☆☆☆☆ Found in Text Mining only
Uveitis Anterior	Anterior uveitis	Pubtator	33807229	Associate	★☆☆☆☆ Found in Text Mining only
Wilms Tumor	Wilms tumor	Pubtator	30981637	Associate	★☆☆☆☆ Found in Text Mining only