HLA-DRB3 (major histocompatibility complex, class II, DR beta 3)

Gene

• Entrez ID: 3125
• Gene name: Major histocompatibility complex, class II, DR beta 3
• Gene symbol: HLA-DRB3
• Synonyms (NCBI Gene): DRB3, HLA-DPB1, HLA-DR1B, HLA-DR3B, HLA-DRB3*
• Chromosome: 6
• Chromosome location: 6p21.3
• Summary: HLA-DRB3 belongs to the HLA class II beta chain paralogues. This class II molecule is a heterodimer consisting of an alpha (DRA) and a beta (DRB) chain, both anchored in the membrane. It plays a central role in the immune system by presenting peptides der

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT1048461	hsa-miR-320a	CLIP-seq
MIRT1048462	hsa-miR-320b	CLIP-seq
MIRT1048463	hsa-miR-320c	CLIP-seq
MIRT1048464	hsa-miR-320d	CLIP-seq
MIRT1048465	hsa-miR-320e	CLIP-seq
MIRT1048466	hsa-miR-4429	CLIP-seq
MIRT1048467	hsa-miR-4793-5p	CLIP-seq
MIRT1048468	hsa-miR-518a-5p	CLIP-seq
MIRT1048469	hsa-miR-527	CLIP-seq
MIRT2011021	hsa-miR-298	CLIP-seq
MIRT1048461	hsa-miR-320a	CLIP-seq
MIRT1048462	hsa-miR-320b	CLIP-seq
MIRT1048463	hsa-miR-320c	CLIP-seq
MIRT1048464	hsa-miR-320d	CLIP-seq
MIRT1048465	hsa-miR-320e	CLIP-seq
MIRT1048466	hsa-miR-4429	CLIP-seq
MIRT2011022	hsa-miR-4731-5p	CLIP-seq
MIRT2011023	hsa-miR-486-3p	CLIP-seq
MIRT1048468	hsa-miR-518a-5p	CLIP-seq
MIRT1048469	hsa-miR-527	CLIP-seq
MIRT2011021	hsa-miR-298	CLIP-seq
MIRT1048461	hsa-miR-320a	CLIP-seq
MIRT1048462	hsa-miR-320b	CLIP-seq
MIRT1048463	hsa-miR-320c	CLIP-seq
MIRT1048464	hsa-miR-320d	CLIP-seq
MIRT1048465	hsa-miR-320e	CLIP-seq
MIRT1048466	hsa-miR-4429	CLIP-seq
MIRT2243304	hsa-miR-4699-5p	CLIP-seq
MIRT2011022	hsa-miR-4731-5p	CLIP-seq
MIRT2011023	hsa-miR-486-3p	CLIP-seq
MIRT1048468	hsa-miR-518a-5p	CLIP-seq
MIRT1048469	hsa-miR-527	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
CIITA	Unknown	10886240
RFX5	Unknown	11258423
RFXANK	Unknown	11258423
RFXAP	Unknown	11258423

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000139	Component	Golgi membrane	TAS
GO:0002250	Process	Adaptive immune response	IEA
GO:0002376	Process	Immune system process	IEA
GO:0002469	Process	Myeloid dendritic cell antigen processing and presentation	IDA	19531622, 30282837
GO:0002503	Process	Peptide antigen assembly with MHC class II protein complex	IBA
GO:0002504	Process	Antigen processing and presentation of peptide or polysaccharide antigen via MHC class II	IEA
GO:0002842	Process	Positive regulation of T cell mediated immune response to tumor cell	IDA	30282837
GO:0005515	Function	Protein binding	IPI	32814053
GO:0005764	Component	Lysosome	IEA
GO:0005765	Component	Lysosomal membrane	IBA
GO:0005765	Component	Lysosomal membrane	IDA	18305173
GO:0005765	Component	Lysosomal membrane	IEA
GO:0005765	Component	Lysosomal membrane	TAS
GO:0005768	Component	Endosome	IEA
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005886	Component	Plasma membrane	IDA	19531622
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	NAS	6414998
GO:0005886	Component	Plasma membrane	TAS
GO:0006955	Process	Immune response	IEA
GO:0007165	Process	Signal transduction	NAS	8775462
GO:0012507	Component	ER to Golgi transport vesicle membrane	TAS
GO:0016020	Component	Membrane	HDA	19946888
GO:0016020	Component	Membrane	IEA
GO:0019882	Process	Antigen processing and presentation	IEA
GO:0019886	Process	Antigen processing and presentation of exogenous peptide antigen via MHC class II	IBA
GO:0019886	Process	Antigen processing and presentation of exogenous peptide antigen via MHC class II	IDA	19531622, 32341563
GO:0023026	Function	MHC class II protein complex binding	IBA
GO:0030658	Component	Transport vesicle membrane	TAS
GO:0030666	Component	Endocytic vesicle membrane	TAS
GO:0030669	Component	Clathrin-coated endocytic vesicle membrane	TAS
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0031902	Component	Late endosome membrane	IBA
GO:0031902	Component	Late endosome membrane	IDA	18305173
GO:0031902	Component	Late endosome membrane	IEA
GO:0032395	Function	MHC class II receptor activity	NAS	6414998
GO:0032588	Component	Trans-Golgi network membrane	TAS
GO:0042605	Function	Peptide antigen binding	IBA
GO:0042605	Function	Peptide antigen binding	IDA	17583734, 18697946
GO:0042605	Function	Peptide antigen binding	ISS	20356827
GO:0042613	Component	MHC class II protein complex	IBA
GO:0042613	Component	MHC class II protein complex	IEA
GO:0042613	Component	MHC class II protein complex	ISS	20356827
GO:0050778	Process	Positive regulation of immune response	IBA
GO:0050852	Process	T cell receptor signaling pathway	IDA	32341563
GO:0050870	Process	Positive regulation of T cell activation	IBA
GO:0098553	Component	Lumenal side of endoplasmic reticulum membrane	TAS
GO:0120281	Component	Autolysosome membrane	IEA
GO:2000516	Process	Positive regulation of CD4-positive, alpha-beta T cell activation	IDA	19531622

Other IDs

• MIM: 612735
• HGNC: 4951
• e!Ensembl: HGNC

Protein

• UniProt ID: P79483
• Protein name: HLA class II histocompatibility antigen, DR beta 3 chain (MHC class II antigen DRB3)
• Protein function: A beta chain of antigen-presenting major histocompatibility complex class II (MHCII) molecule. In complex with the alpha chain HLA-DRA, displays antigenic peptides on professional antigen presenting cells (APCs) for recognition by alpha-beta T c
• PDB: 2Q6W, 3C5J, 4H1L
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00969	MHC_II_beta	42 → 116	Class II histocompatibility antigen, beta domain	Domain
  PF07654	C1-set	128 → 209	Immunoglobulin C1-set domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed in professional APCs: monocyte/macrophages, dendritic cells and B cells (at protein level). {ECO:0000269|PubMed:19531622, ECO:0000269|PubMed:19830726}.
• Sequence:

  MVCLKLPGGSSLAALTVTLMVLSSRLAFAGDTRPRFLELRKSECHFFNGTERVRYLDRYF
  HNQEEFLRFDSDVGEYRAVTELGRPVAESWNSQKDLLEQKRGRVDNYCRHNYGVGESFTV
  QRRVHPQVTVYPAKTQPLQHHNLLVCSVSGFYPGSIEVRWFRNGQEEKAGVVSTGLIQNG
  DWTFQTLVMLETVPRSGEVYTCQVEHPSVTSALTVEWRARSESAQSKMLSGVGGFVLGLL
  FLGAGLFIYFRNQKGHSGLQPTGFLS

• Sequence length: 266

Pathways

KEGG:

Phagosome
Cell adhesion molecules
Antigen processing and presentation
Hematopoietic cell lineage
Th1 and Th2 cell differentiation
Th17 cell differentiation
Intestinal immune network for IgA production
Type I diabetes mellitus
Leishmaniasis
Toxoplasmosis
Staphylococcus aureus infection
Tuberculosis
Influenza A
Human T-cell leukemia virus 1 infection
Herpes simplex virus 1 infection
Epstein-Barr virus infection
Asthma
Autoimmune thyroid disease
Inflammatory bowel disease
Systemic lupus erythematosus
Rheumatoid arthritis
Allograft rejection
Graft-versus-host disease
Viral myocarditis

Reactome:

Downstream TCR signaling
Phosphorylation of CD3 and TCR zeta chains
Translocation of ZAP-70 to Immunological synapse
Generation of second messenger molecules
MHC class II antigen presentation
PD-1 signaling
Interferon gamma signaling

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
ASTHMA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GRAVES DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MULTIPLE SCLEROSIS	—	Disgenet	★★☆☆☆ 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	24535129		★☆☆☆☆ Found in Text Mining only
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	17622527, 19183185, 21645570		★☆☆☆☆ Found in Text Mining only
Addison Disease	Addison`s Disease	BEFREE	7860358		★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	BEFREE	25156210		★☆☆☆☆ Found in Text Mining only
Adult Hodgkin Lymphoma	Hodgkin Lymphoma	BEFREE	10424743, 11401923		★☆☆☆☆ Found in Text Mining only
Adult type dermatomyositis	Dermatomyositis	BEFREE	27153935, 30952422		★☆☆☆☆ Found in Text Mining only
Age related macular degeneration	Age-related macular degeneration	BEFREE	25665771		★☆☆☆☆ Found in Text Mining only
Age-Related Memory Disorders	Age-Related Memory Disorders	CTD_human_DG	14975599		★☆☆☆☆ Found in Text Mining only
Allergic rhinitis (disorder)	Allergic rhinitis	BEFREE	27433817		★☆☆☆☆ Found in Text Mining only
Alloimmunisation	Alloimmunisation	BEFREE	1358865		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease, Late Onset	Alzheimer disease	BEFREE	22486522		★☆☆☆☆ Found in Text Mining only
Ankylosing spondylitis	Ankylosing Spondylitis	BEFREE	19565552, 21769851, 23459078, 24838411, 27394003, 30341055		★☆☆☆☆ Found in Text Mining only
Antiphospholipid Syndrome	Antiphospholipid Syndrome	BEFREE	12892399		★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm, Abdominal	Aortic Aneurysm	BEFREE	16879749, 17182961		★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	LHGDN	16200610		★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	BEFREE	1930320, 31444259		★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	LHGDN	15007363, 15446291, 17014432		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Asthma	Asthma	BEFREE	15784113, 16792590, 18154450, 19439981, 21814517, 23180272, 8335847		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Asthma	Asthma	CTD_human_DG	16792590, 17956852		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Asthma	Asthma	GWASCAT_DG	30929738		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Asthma, Aspirin-Induced	Asthma	BEFREE	16502481, 9179433		★☆☆☆☆ Found in Text Mining only
Asthma, Aspirin-Induced	Asthma	CTD_human_DG	16502481		★☆☆☆☆ Found in Text Mining only
Asthma, Aspirin-Induced	Asthma	GWASCAT_DG	23180272		★☆☆☆☆ Found in Text Mining only
Asthma, Occupational	Asthma	BEFREE	16792590, 19439981, 24994462		★☆☆☆☆ Found in Text Mining only
Ataxia Telangiectasia	Ataxia Telangiectasia	BEFREE	15898979		★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	31593375		★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	BEFREE	30976114, 31593375		★☆☆☆☆ Found in Text Mining only
Autoimmune Chronic Hepatitis	Autoimmune hepatitis	BEFREE	10406258, 1354193, 24956105, 30093645, 7705806, 8119685, 8244257, 9328330		★☆☆☆☆ Found in Text Mining only
Autoimmune Chronic Hepatitis	Autoimmune hepatitis	LHGDN	17006990		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	12849055, 1314989, 16698425, 17182961, 17911430, 25574827, 26010309, 29476350, 31593375, 7558921, 8105536, 9544235		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	LHGDN	17583734		★☆☆☆☆ Found in Text Mining only
Autoimmune thyroiditis	Autoimmune Thyroiditis	BEFREE	26405068		★☆☆☆☆ Found in Text Mining only
Bare lymphocyte syndrome 2	Bare Lymphocyte Syndrome	BEFREE	16337482		★☆☆☆☆ Found in Text Mining only
Behcet Syndrome	Behcet Syndrome	BEFREE	10519364, 1358857		★☆☆☆☆ Found in Text Mining only
beta Thalassemia	beta Thalassemia	BEFREE	17697965		★☆☆☆☆ Found in Text Mining only
beta^+^ Thalassemia	beta Thalassemia	BEFREE	17697965		★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	18487431		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	11027344		★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	25156210		★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	18487431		★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	29853601		★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	BEFREE	10689123		★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Familial Idiopathic	Cardiomyopathy	BEFREE	17060025		★☆☆☆☆ Found in Text Mining only
Carpal Tunnel Syndrome	Carpal Tunnel Syndrome	BEFREE	15018031		★☆☆☆☆ Found in Text Mining only
Celiac Disease	Celiac disease	BEFREE	1314989, 1356956, 1361687, 1676703, 1919044, 1974234, 1980918, 2498667, 26010309, 2788285, 28585303, 2893373, 29018046, 8590546, 8803535, 9129973, 9548076		★☆☆☆☆ Found in Text Mining only
Celiac Disease	Celiac disease	LHGDN	16929349		★☆☆☆☆ Found in Text Mining only
Celiac Disease	Celiac disease	CTD_human_DG	17956852		★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	12517810		★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	15238505, 17311339, 17349874, 18712835, 21716314, 23428460, 24743517, 26031576, 27193219, 30009173		★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	GWASDB_DG	23817570		★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	CTD_human_DG	23817570		★☆☆☆☆ Found in Text Mining only
Cervix carcinoma	Cervix carcinoma	BEFREE	15238505, 17349874, 18712835, 21716314, 23428460, 24743517, 26031576, 27193219, 30009173		★☆☆☆☆ Found in Text Mining only
Child Development Disorders, Pervasive	Development Disorder	GWASCAT_DG	28540026		★☆☆☆☆ Found in Text Mining only
Childhood Acute Lymphoblastic Leukemia	Lymphoblastic Leukemia	BEFREE	22923493, 24959916		★☆☆☆☆ Found in Text Mining only
Cholestasis of pregnancy	Cholestasis of pregnancy	BEFREE	8778199		★☆☆☆☆ Found in Text Mining only
Chronic granulomatous disease	Granulomatous Disease	BEFREE	8909942		★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	11291046		★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	BEFREE	25305207		★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Chronic otitis media	Otitis media	HPO_DG			★☆☆☆☆ Found in Text Mining only
Chronic Periodontitis	Periodontitis	BEFREE	12296785		★☆☆☆☆ Found in Text Mining only
Cirrhosis	Cirrhosis	BEFREE	24006435		★☆☆☆☆ Found in Text Mining only
Cleft Lip with or without Cleft Palate	Cleft Lip With Or Without Cleft Palate	BEFREE	10090614		★☆☆☆☆ Found in Text Mining only
Common Variable Immunodeficiency	Common Variable Immunodeficiency	BEFREE	10361244		★☆☆☆☆ Found in Text Mining only
Complete atrioventricular block	Complete Atrioventricular Block	BEFREE	21750111, 22737229, 23449268, 23760081, 23980639, 25109699, 26449183, 27091392, 29451182		★☆☆☆☆ Found in Text Mining only
Cone-Rod Dystrophy 2	Cone-rod dystrophy	BEFREE	17125797		★☆☆☆☆ Found in Text Mining only
Cranial nerve palsies	Cranial Nerve Paralysis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	BEFREE	10189846, 10323339, 10689124, 8643533		★☆☆☆☆ Found in Text Mining only
Cutis marmorata	Cutis marmorata	BEFREE	12892399		★☆☆☆☆ Found in Text Mining only
Deep Vein Thrombosis	Thrombosis	BEFREE	15640334, 19165231		★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	GWASCAT_DG	30664745		★☆☆☆☆ Found in Text Mining only
Demyelinating Diseases	Demyelinating Diseases	BEFREE	19140826		★☆☆☆☆ Found in Text Mining only
Dermatitis, Irritant	Dermatitis	CTD_human_DG	27258892		★☆☆☆☆ Found in Text Mining only
Dermatomyositis	Dermatomyositis	BEFREE	27153935, 30952422		★☆☆☆☆ Found in Text Mining only
Dermatomyositis	Dermatomyositis	GWASCAT_DG	27153935		★☆☆☆☆ Found in Text Mining only
Deuteranomaly	Deuteranomaly	BEFREE	10415070, 10795342, 11551429, 11897645, 14662898, 14975942, 15273960, 15750822, 17927685, 19589099, 22972925, 27414009, 8105536		★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	7781492		★☆☆☆☆ Found in Text Mining only
Diabetes Insipidus	Diabetes Insipidus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	LHGDN	11975985, 15112906		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	7781492		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	10408802, 10426387, 10615959, 10660221, 11334427, 11532022, 11668578, 11975985, 12021133, 12445315, 12648278, 12753653, 1412418, 1502500, 15277401, 1686679, 18486765, 19143813, 1971463, 1972363, 1974234, 20424227, 22128760, 23121162, 23441825, 23462545, 26405068, 26740600, 27080919, 29018046, 31127057, 7576003, 9001168, 9361969		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	LHGDN	12878786		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	GWASDB_DG	17632545		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	27847319		★☆☆☆☆ Found in Text Mining only
Disorder of eye	Disorder Of Eye	BEFREE	2401099		★☆☆☆☆ Found in Text Mining only
Duodenal Ulcer	Duodenal Ulcer	BEFREE	10514120		★☆☆☆☆ Found in Text Mining only
Eclampsia	Eclampsia	BEFREE	27121092		★☆☆☆☆ Found in Text Mining only
Endometrioma	Endometrioma	CTD_human_DG	17956852		★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	BEFREE	12721173		★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	CTD_human_DG	17956852		★☆☆☆☆ Found in Text Mining only
Essential Hypertension	Hypertension	BEFREE	15905891, 7562884		★☆☆☆☆ Found in Text Mining only
Exophthalmos	Proptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
FNAITP	Fetal and neonatal alloimmune thrombocytopenia	BEFREE	27748520, 28019029, 30923048		★☆☆☆☆ Found in Text Mining only
Gangrene	Gangrene	HPO_DG			★☆☆☆☆ Found in Text Mining only
Gastric ulcer	Gastric ulcer	BEFREE	10514120		★☆☆☆☆ Found in Text Mining only
Gastritis	Gastritis	BEFREE	10514120		★☆☆☆☆ Found in Text Mining only
Giant Cell Arteritis	Giant Cell Arteritis	BEFREE	12136919		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	LHGDN	16322289		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	21569485		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	21569485		★☆☆☆☆ Found in Text Mining only
Graft-vs-Host Disease	Graft-Vs-Host Disease	BEFREE	10408803, 12379888, 17445160, 21963878, 25519752, 26267621, 27313329, 27872059, 28252558, 28667011, 28887054, 30093645, 31471374, 31850671, 8461476		★☆☆☆☆ Found in Text Mining only
Granulomatosis	Granulomatosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Granulomatosis with polyangiitis	Granulomatosis With Polyangiitis	BEFREE	14968360, 17967832, 19864953, 23740775, 24854378, 25172939, 26014903, 27166610		★☆☆☆☆ Found in Text Mining only
Granulomatosis with polyangiitis	Granulomatosis With Polyangiitis	ORPHANET_DG	23740775		★☆☆☆☆ Found in Text Mining only
Granulomatosis with polyangiitis	Granulomatosis With Polyangiitis	GWASDB_DG	23740775		★☆☆☆☆ Found in Text Mining only
Granulomatosis with polyangiitis	Granulomatosis With Polyangiitis	GWASCAT_DG	23740775		★☆☆☆☆ Found in Text Mining only
Granulomatosis with polyangiitis	Granulomatosis With Polyangiitis	Orphanet			★☆☆☆☆ Found in Text Mining only
Graves Disease	Graves Disease	BEFREE	10487684, 10770195, 11895223, 1363421, 16698425, 1979072, 20300120, 21307958, 2401099, 24285682, 26029868, 3120348, 7781492, 8026987, 8061167, 8088306, 8320138, 8875744		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hamartoma Syndrome, Multiple	Hamartoma	BEFREE	1349446		★☆☆☆☆ Found in Text Mining only
Hashimoto Disease	Hashimoto Disease	BEFREE	24285682, 26405068		★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart Diseases	BEFREE	10689123		★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic Neoplasms	BEFREE	28632323, 29386198, 29726580		★☆☆☆☆ Found in Text Mining only
Hematological Disease	Hematological Disease	BEFREE	28667011		★☆☆☆☆ Found in Text Mining only
Hematopoietic Neoplasms	Hematopoietic Neoplasms	BEFREE	15018031, 17697965		★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin Disease	BEFREE	31091281, 7769845, 7923125, 8346566, 8656683, 9250796		★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington Disease	BEFREE	31091281		★☆☆☆☆ Found in Text Mining only
Hydronephrosis	Hydronephrosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypercalcemia	Hypercalcemia	BEFREE	14508706		★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hyperthyroidism	Hyperthyroidism	BEFREE	8061167		★☆☆☆☆ Found in Text Mining only
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	BEFREE	18186799		★☆☆☆☆ Found in Text Mining only
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	LHGDN	18186799		★☆☆☆☆ Found in Text Mining only
Idiopathic Inflammatory Myopathies	Inflammatory Myopathy	BEFREE	19690132, 31242791		★☆☆☆☆ Found in Text Mining only
Idiopathic Membranous Glomerulonephritis	Membranous Glomerulonephritis	BEFREE	28028136		★☆☆☆☆ Found in Text Mining only
IGA Glomerulonephritis	Glomerulonephritis	BEFREE	1314989, 29467950		★☆☆☆☆ Found in Text Mining only
Immune thrombocytopenic purpura	Immune Thrombocytopenic Purpura	BEFREE	10192454, 11098933		★☆☆☆☆ Found in Text Mining only
Immunoglobulin A deficiency (disorder)	Immunoglobulin A deficiency	BEFREE	10931389		★☆☆☆☆ Found in Text Mining only
Inclusion Body Myopathy, Sporadic	Inclusion body myopathy	BEFREE	23010279		★☆☆☆☆ Found in Text Mining only
Inclusion Body Myositis (disorder)	Inclusion Body Myositis	LHGDN	18258695		★☆☆☆☆ Found in Text Mining only
Inflammatory abnormality of the eye	Inflammatory abnormality of the eye	HPO_DG			★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	1983847, 28449344, 31518029		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	30976114		★☆☆☆☆ Found in Text Mining only
Intestinal Obstruction	Intestinal Obstruction	HPO_DG			★☆☆☆☆ Found in Text Mining only
Iridocyclitis	Iridocyclitis	BEFREE	7955632		★☆☆☆☆ Found in Text Mining only
Juvenile arthritis	Arthritis	BEFREE	10457895, 12115193, 12195624, 15343265, 17509091, 2228045, 26305060, 29037901, 7558921, 7788177, 8151573, 8436419		★☆☆☆☆ Found in Text Mining only
Juvenile arthritis	Arthritis	LHGDN	15343265		★☆☆☆☆ Found in Text Mining only
Juvenile Myoclonic Epilepsy	Myoclonic Epilepsy	BEFREE	10677311		★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	12075003, 17622527, 19148140, 19924143, 2514465, 27479183, 28568505, 29430873		★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	27479183		★☆☆☆☆ Found in Text Mining only
Lipodystrophy	Lipodystrophy	BEFREE	20073992		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	21402545, 22105689, 24006435, 24520320, 25365208, 26261648, 26462556, 26634522		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	GWASDB_DG	23242368		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver Cirrhosis	BEFREE	12694584, 24006435		★☆☆☆☆ Found in Text Mining only
Lung Diseases, Interstitial	Lung Diseases	BEFREE	22586441		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	11699726, 12651073, 12892399, 1556698, 15645749, 2323107, 23320107, 26919467, 28094303, 7912858, 8154937, 8311559, 8399121, 8456439		★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	12075003, 19148140		★☆☆☆☆ Found in Text Mining only
Lymphoma, Follicular	Lymphoma	BEFREE	22296171, 23025665		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	11027344		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	29853601		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	18487431		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	27163739, 28092349, 28809608, 9250796		★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	15238505, 17349874, 18712835, 21716314, 23428460, 24743517, 26031576, 27193219, 30009173		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	17180681		★☆☆☆☆ Found in Text Mining only
Membranous glomerulonephritis	Membranous Glomerulonephritis	BEFREE	28028136		★☆☆☆☆ Found in Text Mining only
Memory Disorders	Memory Disorders	CTD_human_DG	14975599		★☆☆☆☆ Found in Text Mining only
Miscarriage	Miscarriage	BEFREE	19223392		★☆☆☆☆ Found in Text Mining only
Mitral Valve Stenosis	Mitral Valve Stenosis	BEFREE	16459716, 8782076		★☆☆☆☆ Found in Text Mining only
Mixed Cellularity Hodgkin Lymphoma	Classical Hodgkin lymphoma	BEFREE	29196614		★☆☆☆☆ Found in Text Mining only
Mucocutaneous Lymph Node Syndrome	Kawasaki disease	BEFREE	1491403		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	10468508, 10777094, 10787110, 10967184, 11571785, 12420096, 12849268, 15201511, 16459716, 17125797, 18952831, 1918327, 1926123, 19965521, 19995845, 2001977, 21130504, 2228045, 23038741, 2391251, 27599848, 28474969, 30305453, 7605774, 8456441, 8871575, 9544235, 9756407		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Multiple Sclerosis	Multiple Sclerosis	CTD_human_DG	17956852		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Multiple Sclerosis, Acute Fulminating	Multiple Sclerosis	CTD_human_DG	17956852		★☆☆☆☆ Found in Text Mining only
MUTYH-Associate Polyposis	Polyposis	BEFREE	31195975		★☆☆☆☆ Found in Text Mining only
Myasthenia Gravis	Myasthenia Gravis	CTD_human_DG	17956852		★☆☆☆☆ Found in Text Mining only
Myasthenia Gravis	Myasthenia Gravis	BEFREE	7749041, 8061167, 8469338, 8508049		★☆☆☆☆ Found in Text Mining only
Myasthenia Gravis, Generalized	Myasthenia Gravis	CTD_human_DG	17956852		★☆☆☆☆ Found in Text Mining only
Myasthenia Gravis, Ocular	Myasthenia Gravis	CTD_human_DG	17956852		★☆☆☆☆ Found in Text Mining only
Myelodysplasia	Myelodysplasia	BEFREE	24535129		★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	BEFREE	24535129, 27162243		★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia, Chronic	Myeloid Leukemia	BEFREE	11698272, 12879429		★☆☆☆☆ Found in Text Mining only
Myositis	Myositis	BEFREE	30952422		★☆☆☆☆ Found in Text Mining only
Narcolepsy	Narcolepsy	BEFREE	25574827, 26518595		★☆☆☆☆ Found in Text Mining only
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	BEFREE	12464650		★☆☆☆☆ Found in Text Mining only
Neonatal Alloimmune Thrombocytopenia	Alloimmune Thrombocytopenia	BEFREE	22671039		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	19148140, 28776578, 30099516		★☆☆☆☆ Found in Text Mining only
Neuromyelitis Optica	Neuromyelitis Optica	BEFREE	17125797, 19299434, 19995845, 21130504, 22807325, 23038741		★☆☆☆☆ Found in Text Mining only
Nodular Sclerosis Classical Hodgkin Lymphoma	Classical Hodgkin lymphoma	BEFREE	29196614		★☆☆☆☆ Found in Text Mining only
Non-obstructive azoospermia	Non-obstructive azoospermia	BEFREE	23934009		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	15905891		★☆☆☆☆ Found in Text Mining only
Oligoarticular Juvenile Idiopathic Arthritis	Oligoarticular Arthritis	BEFREE	15703957		★☆☆☆☆ Found in Text Mining only
Oral Ulcer	Oral Ulcer	GWASCAT_DG	30837455		★☆☆☆☆ Found in Text Mining only
Osteoarthritis of hip	Osteoarthritis Of Hip	GWASCAT_DG	30664745		★☆☆☆☆ Found in Text Mining only
Osteoarthritis, Knee	Knee osteoarthritis	GWASCAT_DG	30664745		★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	29853601		★☆☆☆☆ Found in Text Mining only
Pancreatitis	Pancreatitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pauci-immune Glomerulonephritis associated with Granulomatosis with Polyangiitis	Granulomatosis with polyangiitis	BEFREE	14968360, 17967832, 19864953		★☆☆☆☆ Found in Text Mining only
Pauci-immune Glomerulonephritis associated with Granulomatosis with Polyangiitis	Granulomatosis with polyangiitis	GWASCAT_DG	23740775		★☆☆☆☆ Found in Text Mining only
Pemphigus	Pemphigus	BEFREE	23278608, 7747528, 9347787		★☆☆☆☆ Found in Text Mining only
Pericarditis	Pericarditis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pervasive Development Disorder	Autism spectrum disorder	BEFREE	31593375		★☆☆☆☆ Found in Text Mining only
Pleocytosis	CSF pleocytosis	BEFREE	17125797		★☆☆☆☆ Found in Text Mining only
Pleurisy	Pleuritis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Polyendocrinopathies, Autoimmune	Autoimmune Polyendocrinopathy	BEFREE	12892399		★☆☆☆☆ Found in Text Mining only
Polymyositis	Polymyositis	BEFREE	30952422		★☆☆☆☆ Found in Text Mining only
Post-Traumatic Stress Disorder	Stress Disorder	BEFREE	31310798		★☆☆☆☆ Found in Text Mining only
Precursor B-cell lymphoblastic leukemia	Lymphoblastic Leukemia	BEFREE	19148140, 7885043		★☆☆☆☆ Found in Text Mining only
Precursor Cell Lymphoblastic Leukemia Lymphoma	Lymphoblastic Leukemia	LHGDN	17964196		★☆☆☆☆ Found in Text Mining only
Precursor Cell Lymphoblastic Leukemia Lymphoma	Lymphoblastic Leukemia	BEFREE	21645570		★☆☆☆☆ Found in Text Mining only
Primary biliary cirrhosis	Biliary Cirrhosis	BEFREE	1735557, 22573116, 24265779, 28425483, 28894202, 30507971, 7705806, 7843712, 7904771, 8100798		★☆☆☆☆ Found in Text Mining only
Primary biliary cirrhosis	Biliary Cirrhosis	GWASDB_DG	21399635		★☆☆☆☆ Found in Text Mining only
Primary biliary cirrhosis	Biliary Cirrhosis	GWASCAT_DG	28425483		★☆☆☆☆ Found in Text Mining only
Primary sclerosing cholangitis	Sclerosing Cholangitis	BEFREE	10068102, 1639348, 25521205, 7705806, 9731555		★☆☆☆☆ Found in Text Mining only
prostatitis	Prostatitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	BEFREE	10651991, 27213287, 28581127, 8002377		★☆☆☆☆ Found in Text Mining only
Psoriasis vulgaris	Psoriasis vulgaris	BEFREE	15908298, 28581127, 9990359		★☆☆☆☆ Found in Text Mining only
Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	15104683, 24498086		★☆☆☆☆ Found in Text Mining only
Pulmonary Fibrosis	Pulmonary Fibrosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Purpura, Thrombotic Thrombocytopenic	Thrombotic thrombocytopenic purpura	BEFREE	19922436		★☆☆☆☆ Found in Text Mining only
Raynaud Phenomenon	Raynaud Phenomenon	BEFREE	12892399		★☆☆☆☆ Found in Text Mining only
Refractory anemias	Anemia	BEFREE	1542871, 8039286, 9098423, 9157088		★☆☆☆☆ Found in Text Mining only
Renal glomerular disease	Renal Glomerular Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Renal Insufficiency	Renal Insufficiency	HPO_DG			★☆☆☆☆ Found in Text Mining only
Respiration Disorders	Respiration Disorders	BEFREE	20046412		★☆☆☆☆ Found in Text Mining only
Respiratory Tract Diseases	Respiratory Tract Diseases	BEFREE	20046412		★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal Diseases	HPO_DG			★☆☆☆☆ Found in Text Mining only
Rheumatic Heart Disease	Rheumatic Heart Disease	BEFREE	16426242		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	11235775, 1429034, 1542871, 15703453, 19116921, 1930320, 2095004, 21293383, 22471586, 23320107, 24092415, 2476386, 2512583, 25636569, 26919467, 28391248, 29425827, 29476350, 30235330, 30635658, 31451934, 3259737, 8039286, 8182623, 8358964, 8596140, 9098407, 9098423, 9157088, 9442804		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	GWASDB_DG	17804836, 19503088, 21156761		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	CTD_human_DG	17956852, 22286218		★☆☆☆☆ Found in Text Mining only
Sacroiliitis	Sacroiliitis	BEFREE	11953976, 17075863		★☆☆☆☆ Found in Text Mining only
Sarcoidosis	Sarcoidosis	BEFREE	10471632, 10712327, 11169267, 11923555, 14508706, 17559577, 25305207, 29229112, 7742275, 8085259, 8739505, 8882407, 8909942, 9130059, 9655715, 9659531		★☆☆☆☆ Found in Text Mining only
Sarcoidosis	Sarcoidosis	CTD_human_DG	14508706, 17956852, 8909942		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	11343866, 7726211		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	GWASCAT_DG	28540026		★☆☆☆☆ Found in Text Mining only
Scleroderma	Scleroderma	BEFREE	10082433, 24498086		★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sensory neuropathy	Sensory neuropathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sinusitis	Sinusitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sjogren`s Syndrome	Sjogren`s Syndrome	GWASCAT_DG	28076899		★☆☆☆☆ Found in Text Mining only
Skin Erosion	Skin Erosion	BEFREE	8596140		★☆☆☆☆ Found in Text Mining only
Spinocerebellar Ataxia Type 1	Spinocerebellar Ataxia	BEFREE	2563195		★☆☆☆☆ Found in Text Mining only
Systemic Scleroderma	Scleroderma	BEFREE	10082433, 19596691, 19950302, 24498086, 27116456, 27208855, 28506627, 8620089		★☆☆☆☆ Found in Text Mining only
Systemic Scleroderma	Scleroderma	GWASDB_DG	19950302, 20383147		★☆☆☆☆ Found in Text Mining only
Takayasu Arteritis	Takayasu Arteritis	BEFREE	1350869, 21658421, 28449344		★☆☆☆☆ Found in Text Mining only
Thymoma	Thymoma	BEFREE	10370374, 7749041		★☆☆☆☆ Found in Text Mining only
Thymus Hyperplasia	Thymus Hyperplasia	BEFREE	10370374		★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	BEFREE	10323339, 10573382, 8096500, 8643533		★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	LHGDN	17714554		★☆☆☆☆ Found in Text Mining only
Urticaria	Urticaria	BEFREE	15784113		★☆☆☆☆ Found in Text Mining only
Urticaria	Urticaria	CTD_human_DG	16502481		★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasm	Uterine cervix neoplasm	CTD_human_DG	23817570		★☆☆☆☆ Found in Text Mining only
Vasculitis	Vasculitis	BEFREE	25410188, 8358964		★☆☆☆☆ Found in Text Mining only
Vasculitis	Vasculitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Vitiligo	Vitiligo	BEFREE	17021767, 9653015		★☆☆☆☆ Found in Text Mining only
VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (finding)	Vitiligo-associated SYSTEMIC LUPUS ERYTHEMATOSUS	BEFREE	17021767, 9653015		★☆☆☆☆ Found in Text Mining only