Gene Gene information from NCBI Gene database. Download as csv Download as pdf
Entrez ID	3127
Gene name	Major histocompatibility complex, class II, DR beta 5
Gene symbol	HLA-DRB5
Synonyms (NCBI Gene)	DRB5HLA-DRB5*
Chromosome	6
Chromosome location	6p21.32
Summary	HLA-DRB5 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

122 Show/Hide all (122)

miRTarBase ID	miRNA	Experiments	Reference
MIRT018565	hsa-miR-335-5p	Microarray	18185580
MIRT717246	hsa-miR-1250-3p	HITS-CLIP	19536157
MIRT717245	hsa-miR-136-5p	HITS-CLIP	19536157
MIRT717244	hsa-miR-589-5p	HITS-CLIP	19536157
MIRT717243	hsa-miR-4434	HITS-CLIP	19536157
MIRT717242	hsa-miR-4516	HITS-CLIP	19536157
MIRT717241	hsa-miR-5703	HITS-CLIP	19536157
MIRT717240	hsa-miR-4531	HITS-CLIP	19536157
MIRT717239	hsa-miR-4263	HITS-CLIP	19536157
MIRT717238	hsa-miR-576-5p	HITS-CLIP	19536157
MIRT618812	hsa-miR-5692a	HITS-CLIP	23824327
MIRT618811	hsa-miR-4496	HITS-CLIP	23824327
MIRT618810	hsa-miR-141-5p	HITS-CLIP	23824327
MIRT618809	hsa-miR-6832-3p	HITS-CLIP	23824327
MIRT618808	hsa-miR-627-3p	HITS-CLIP	23824327
MIRT618807	hsa-miR-623	HITS-CLIP	23824327
MIRT618806	hsa-miR-204-5p	HITS-CLIP	23824327
MIRT618805	hsa-miR-211-5p	HITS-CLIP	23824327
MIRT618804	hsa-miR-4755-5p	HITS-CLIP	23824327
MIRT618803	hsa-miR-5006-3p	HITS-CLIP	23824327
MIRT618812	hsa-miR-5692a	HITS-CLIP	23824327
MIRT618811	hsa-miR-4496	HITS-CLIP	23824327
MIRT618810	hsa-miR-141-5p	HITS-CLIP	23824327
MIRT618809	hsa-miR-6832-3p	HITS-CLIP	23824327
MIRT618808	hsa-miR-627-3p	HITS-CLIP	23824327
MIRT618807	hsa-miR-623	HITS-CLIP	23824327
MIRT618806	hsa-miR-204-5p	HITS-CLIP	23824327
MIRT618805	hsa-miR-211-5p	HITS-CLIP	23824327
MIRT618804	hsa-miR-4755-5p	HITS-CLIP	23824327
MIRT618803	hsa-miR-5006-3p	HITS-CLIP	23824327
MIRT618812	hsa-miR-5692a	HITS-CLIP	23824327
MIRT618811	hsa-miR-4496	HITS-CLIP	23824327
MIRT618810	hsa-miR-141-5p	HITS-CLIP	23824327
MIRT618809	hsa-miR-6832-3p	HITS-CLIP	23824327
MIRT618808	hsa-miR-627-3p	HITS-CLIP	23824327
MIRT618807	hsa-miR-623	HITS-CLIP	23824327
MIRT618806	hsa-miR-204-5p	HITS-CLIP	23824327
MIRT618805	hsa-miR-211-5p	HITS-CLIP	23824327
MIRT618804	hsa-miR-4755-5p	HITS-CLIP	23824327
MIRT618803	hsa-miR-5006-3p	HITS-CLIP	23824327
MIRT618812	hsa-miR-5692a	HITS-CLIP	23824327
MIRT618811	hsa-miR-4496	HITS-CLIP	23824327
MIRT618810	hsa-miR-141-5p	HITS-CLIP	23824327
MIRT618809	hsa-miR-6832-3p	HITS-CLIP	23824327
MIRT618808	hsa-miR-627-3p	HITS-CLIP	23824327
MIRT618807	hsa-miR-623	HITS-CLIP	23824327
MIRT618806	hsa-miR-204-5p	HITS-CLIP	23824327
MIRT618805	hsa-miR-211-5p	HITS-CLIP	23824327
MIRT618804	hsa-miR-4755-5p	HITS-CLIP	23824327
MIRT618803	hsa-miR-5006-3p	HITS-CLIP	23824327
MIRT717246	hsa-miR-1250-3p	HITS-CLIP	19536157
MIRT717245	hsa-miR-136-5p	HITS-CLIP	19536157
MIRT717244	hsa-miR-589-5p	HITS-CLIP	19536157
MIRT717243	hsa-miR-4434	HITS-CLIP	19536157
MIRT717242	hsa-miR-4516	HITS-CLIP	19536157
MIRT717241	hsa-miR-5703	HITS-CLIP	19536157
MIRT717240	hsa-miR-4531	HITS-CLIP	19536157
MIRT717239	hsa-miR-4263	HITS-CLIP	19536157
MIRT717238	hsa-miR-576-5p	HITS-CLIP	19536157
MIRT618812	hsa-miR-5692a	HITS-CLIP	23824327
MIRT618811	hsa-miR-4496	HITS-CLIP	23824327
MIRT618810	hsa-miR-141-5p	HITS-CLIP	23824327
MIRT618809	hsa-miR-6832-3p	HITS-CLIP	23824327
MIRT618808	hsa-miR-627-3p	HITS-CLIP	23824327
MIRT618807	hsa-miR-623	HITS-CLIP	23824327
MIRT618806	hsa-miR-204-5p	HITS-CLIP	23824327
MIRT618805	hsa-miR-211-5p	HITS-CLIP	23824327
MIRT618804	hsa-miR-4755-5p	HITS-CLIP	23824327
MIRT618803	hsa-miR-5006-3p	HITS-CLIP	23824327
MIRT618812	hsa-miR-5692a	HITS-CLIP	23824327
MIRT618811	hsa-miR-4496	HITS-CLIP	23824327
MIRT618810	hsa-miR-141-5p	HITS-CLIP	23824327
MIRT618809	hsa-miR-6832-3p	HITS-CLIP	23824327
MIRT618808	hsa-miR-627-3p	HITS-CLIP	23824327
MIRT618807	hsa-miR-623	HITS-CLIP	23824327
MIRT618806	hsa-miR-204-5p	HITS-CLIP	23824327
MIRT618805	hsa-miR-211-5p	HITS-CLIP	23824327
MIRT618804	hsa-miR-4755-5p	HITS-CLIP	23824327
MIRT618803	hsa-miR-5006-3p	HITS-CLIP	23824327
MIRT618812	hsa-miR-5692a	HITS-CLIP	23824327
MIRT618811	hsa-miR-4496	HITS-CLIP	23824327
MIRT618810	hsa-miR-141-5p	HITS-CLIP	23824327
MIRT618809	hsa-miR-6832-3p	HITS-CLIP	23824327
MIRT618808	hsa-miR-627-3p	HITS-CLIP	23824327
MIRT618807	hsa-miR-623	HITS-CLIP	23824327
MIRT618806	hsa-miR-204-5p	HITS-CLIP	23824327
MIRT618805	hsa-miR-211-5p	HITS-CLIP	23824327
MIRT618804	hsa-miR-4755-5p	HITS-CLIP	23824327
MIRT618803	hsa-miR-5006-3p	HITS-CLIP	23824327
MIRT618812	hsa-miR-5692a	HITS-CLIP	23824327
MIRT618811	hsa-miR-4496	HITS-CLIP	23824327
MIRT618810	hsa-miR-141-5p	HITS-CLIP	23824327
MIRT618809	hsa-miR-6832-3p	HITS-CLIP	23824327
MIRT618808	hsa-miR-627-3p	HITS-CLIP	23824327
MIRT618807	hsa-miR-623	HITS-CLIP	23824327
MIRT618806	hsa-miR-204-5p	HITS-CLIP	23824327
MIRT618805	hsa-miR-211-5p	HITS-CLIP	23824327
MIRT618804	hsa-miR-4755-5p	HITS-CLIP	23824327
MIRT618803	hsa-miR-5006-3p	HITS-CLIP	23824327
MIRT1048472	hsa-miR-320a	CLIP-seq
MIRT1048473	hsa-miR-320b	CLIP-seq
MIRT1048474	hsa-miR-320c	CLIP-seq
MIRT1048475	hsa-miR-320d	CLIP-seq
MIRT1048476	hsa-miR-320e	CLIP-seq
MIRT1048477	hsa-miR-3689a-3p	CLIP-seq
MIRT1048478	hsa-miR-3689c	CLIP-seq
MIRT1048479	hsa-miR-4429	CLIP-seq
MIRT1048480	hsa-miR-4728-5p	CLIP-seq
MIRT1048481	hsa-miR-4731-5p	CLIP-seq
MIRT1048482	hsa-miR-518a-5p	CLIP-seq
MIRT1048483	hsa-miR-527	CLIP-seq
MIRT2243312	hsa-miR-298	CLIP-seq
MIRT1048472	hsa-miR-320a	CLIP-seq
MIRT1048473	hsa-miR-320b	CLIP-seq
MIRT1048474	hsa-miR-320c	CLIP-seq
MIRT1048475	hsa-miR-320d	CLIP-seq
MIRT1048476	hsa-miR-320e	CLIP-seq
MIRT1048479	hsa-miR-4429	CLIP-seq
MIRT1048481	hsa-miR-4731-5p	CLIP-seq
MIRT2243313	hsa-miR-486-3p	CLIP-seq
MIRT1048482	hsa-miR-518a-5p	CLIP-seq
MIRT1048483	hsa-miR-527	CLIP-seq

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

40 Show/Hide all (40)

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: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:0005515	Function	Protein binding	IPI	28514442, 33961781
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:0005794	Component	Golgi apparatus	IEA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0006955	Process	Immune response	IEA
GO:0010008	Component	Endosome membrane	IEA
GO:0012507	Component	ER to Golgi transport vesicle membrane	TAS
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: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:0031902	Component	Late endosome membrane	IBA
GO:0031902	Component	Late endosome membrane	IDA	18305173
GO:0031902	Component	Late endosome membrane	IEA
GO:0032588	Component	Trans-Golgi network membrane	TAS
GO:0042605	Function	Peptide antigen binding	IBA
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:0050870	Process	Positive regulation of T cell activation	IBA
GO:0070062	Component	Extracellular exosome	HDA	12519789, 20458337
GO:0098553	Component	Lumenal side of endoplasmic reticulum membrane	TAS

MIM	HGNC	e!Ensembl
604776	4953	ENSG00000198502

Q30154

Protein name

HLA class II histocompatibility antigen, DR beta 5 chain (DR beta-5) (DR2-beta-2) (Dw2) (MHC class II antigen DRB5)

Protein function

Binds peptides derived from antigens that access the endocytic route of antigen presenting cells (APC) and presents them on the cell surface for recognition by the CD4 T-cells. The peptide binding cleft accommodates peptides of 10-30 residues. T

PDB

1FV1 , 1H15 , 1HQR , 1ZGL

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

Sequence

MVCLKLPGGSYMAKLTVTLMVLSSPLALAGDTRPRFLQQDKYECHFFNGTERVRFLHRDI
YNQEEDLRFDSDVGEYRAVTELGRPDAEYWNSQKDFLEDRRAAVDTYCRHNYGVGESFTV
QRRVEPKVTVYPARTQTLQHHNLLVCSVNGFYPGSIEVRWFRNSQEEKAGVVSTGLIQNG
DWTFQTLVMLETVPRSGEVYTCQVEHPSVTSPLTVEWRAQSESAQSKMLSGVGGFVLGLL
FLGAGLFIYFKNQKGHSGLHPTGLVS

Sequence length

266

Interactions

View interactions

KEGG Pathway	Reactome Pathway
Phagosome	Downstream TCR signaling
Cell adhesion molecules	Phosphorylation of CD3 and TCR zeta chains
Antigen processing and presentation	Translocation of ZAP-70 to Immunological synapse
Hematopoietic cell lineage	Generation of second messenger molecules
Th1 and Th2 cell differentiation	MHC class II antigen presentation
Th17 cell differentiation	PD-1 signaling
Intestinal immune network for IgA production	Interferon gamma signaling
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

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)

Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal. Show/Hide Unknown Diseases (57)
ALZHEIMER DISEASE	—	GWAS catalog	34743297	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ALZHEIMER'S DISEASE NEUROPATHOLOGIC CHANGE	—	GWAS catalog	25188341	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANTI-CENTROMERE-ANTIBODY-POSITIVE SYSTEMIC SCLERODERMA	—	GWAS catalog	38296975	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ASTHMA	—	GWAS catalog	30929738, 39789286	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATOPIC ECZEMA	—	GWAS catalog	39024449	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER	—	GWAS catalog	28540026	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA	—	GWAS catalog	32887889	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BULLOUS PEMPHIGOID	—	GWAS catalog	34011352	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CANCER	—	GWAS catalog	32887889	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CENTRAL NERVOUS SYSTEM NON-HODGKIN LYMPHOMA	—	GWAS catalog	31102405	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CERVICAL CANCER	—	GWAS catalog	31488892, 32887889	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CERVICAL CARCINOMA	—	GWAS catalog	31488892, 32887889	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic lymphocytic leukemia/small lymphocytic lymphoma	Benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC OBSTRUCTIVE PULMONARY DISEASE	—	GWAS catalog	34594039	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER	—	GWAS catalog	32887889	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEMENTIA	—	GWAS catalog	25188341	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DENTAL CARIES	—	GWAS catalog	39192244	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, TYPE 2	—	CTD	28869590	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ENCEPHALOMYELITIS, ACUTE DISSEMINATED	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ESTROGEN-RECEPTOR NEGATIVE BREAST CANCER	—	GWAS catalog	32887889	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial pancreatic carcinoma	Benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HENOCH-SCHOENLEIN PURPURA	—	GWAS catalog	35470498	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERSENSITIVITY	—	CTD	8725357	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTHYROIDISM	—	GWAS catalog	39789286	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPOTHYROIDISM	—	GWAS catalog	38368726, 39789286	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INFLAMMATORY BOWEL DISEASE	—	GWAS catalog	37377963	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
JUVENILE DERMATOMYOSITIS	—	GWAS catalog	36580032	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LATE-ONSET MYASTHENIA GRAVIS	—	GWAS catalog	26562150	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIMITED SCLERODERMA	—	GWAS catalog	38296975	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG ADENOCARCINOMA	—	GWAS catalog	32887889	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG CARCINOMA	—	GWAS catalog	32887889	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma	Benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MALIGNANT EPITHELIAL TUMOR OF OVARY	—	GWAS catalog	30898391	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of urinary bladder	Likely benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MULTIPLE SCLEROSIS	—	GWAS catalog	39024449	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEPHROTIC SYNDROME	—	GWAS catalog	34594039	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-ALCOHOLIC FATTY LIVER DISEASE	—	GWAS catalog	35047847	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOPOROSIS	—	GWAS catalog	34594039	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian cancer	Benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN CARCINOMA	—	GWAS catalog	30898391, 32887889	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN ENDOMETRIOID CARCINOMA	—	GWAS catalog	32887889	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN SEROUS CARCINOMA	—	GWAS catalog	32887889	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARKINSON DISEASE	—	CTD	27713094	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CARCINOMA	—	GWAS catalog	32887889	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSORIASIS	—	GWAS catalog	39789286, 39885523	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PULMONARY ALVEOLAR PROTEINOSIS	—	GWAS catalog	33589587	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RESTLESS LEGS SYNDROME	—	GWAS catalog	38839884	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RHEUMATOID ARTHRITIS	—	GWAS catalog	21156761, 24782177, 28118524, 32723749, 37377963, 38368726	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SARCOIDOSIS	—	GWAS catalog	22952805, 26651848, 37399103, 40075078	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	28540026	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SKIN DISEASE	—	GWAS catalog	39024449	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SQUAMOUS CELL LUNG CARCINOMA	—	GWAS catalog	32887889	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SYSTEMIC LUPUS ERYTHEMATOSUS	—	GWAS catalog	33272962, 38724181	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 1 DIABETES MELLITUS	—	GWAS catalog	34594039, 40569436	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	34594039, 40569436	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Disease Name	Disease (Merged)	Source	PMID	Evidence Score
Associations from Text Mining Disease associations identified through text mining Show/Hide Text Mining Associations (51)
Acute Confusional Senile Dementia	Senile Dementia	CTD_human_DG	27713094	★★★★★ ★☆☆☆☆ Found in Text Mining only
Alzheimer Disease, Early Onset	Alzheimer disease	CTD_human_DG	27713094	★★★★★ ★☆☆☆☆ Found in Text Mining only
Alzheimer Disease, Late Onset	Alzheimer disease	BEFREE	27088644	★★★★★ ★☆☆☆☆ Found in Text Mining only
Alzheimer Disease, Late Onset	Alzheimer disease	CTD_human_DG	27713094	★★★★★ ★☆☆☆☆ Found in Text Mining only
Alzheimer`s Disease	Alzheimer disease	CTD_human_DG	27713094	★★★★★ ★☆☆☆☆ Found in Text Mining only
Alzheimer`s Disease, Focal Onset	Alzheimer disease	CTD_human_DG	27713094	★★★★★ ★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	28131168	★★★★★ ★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	1729361	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Asthma	Asthma	GWASCAT_DG	30929738	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autoimmune Diseases	Autoimmune Diseases	BEFREE	11470147, 154196	★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	22393992	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cataplexy	Cataplexy	BEFREE	3010426	★★★★★ ★☆☆☆☆ Found in Text Mining only
Child Development Disorders, Pervasive	Development Disorder	GWASCAT_DG	28540026	★★★★★ ★☆☆☆☆ Found in Text Mining only
COMPLEMENT COMPONENT 2 DEFICIENCY	Complement Component Deficiency	BEFREE	6980631	★★★★★ ★☆☆☆☆ Found in Text Mining only
Complete atrioventricular block	Complete Atrioventricular Block	BEFREE	29287219	★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	28869590	★★★★★ ★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	BEFREE	27088644	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	520125, 7336414, 77059, 77236	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	28869590	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	CTD_human_DG	28869590	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	BEFREE	28676627	★★★★★ ★☆☆☆☆ Found in Text Mining only
Familial Alzheimer Disease (FAD)	Alzheimer disease	CTD_human_DG	27713094	★★★★★ ★☆☆☆☆ Found in Text Mining only
Idiopathic Membranous Glomerulonephritis	Membranous Glomerulonephritis	BEFREE	1350648	★★★★★ ★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	29717769	★★★★★ ★☆☆☆☆ Found in Text Mining only
Juvenile arthritis	Arthritis	BEFREE	3873701	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Diseases, Interstitial	Lung Diseases	BEFREE	22723597	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	22862923, 24366815, 26919467	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	22393992	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	568746	★★★★★ ★☆☆☆☆ Found in Text Mining only
Mitral Valve Stenosis	Mitral Valve Stenosis	BEFREE	6558078	★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	28052121	★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	1085490, 11082515, 1361490, 15201511, 1723064, 18832704, 1926129, 19380721, 2033119, 20394989, 2567726, 29683085, 3509722, 568746, 6558078 View all (15 more)	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Multiple Sclerosis	Multiple Sclerosis	LHGDN	18832704	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Narcolepsy	Narcolepsy	BEFREE	2494138, 2896649, 3010426, 3259543	★★★★★ ★☆☆☆☆ Found in Text Mining only
Narcolepsy type 1	Narcolepsy	BEFREE	31577807	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	30099516	★★★★★ ★☆☆☆☆ Found in Text Mining only
Optic Neuritis	Optic Neuritis	BEFREE	7931435, 8899048	★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	22807207, 27713094	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Parkinson Disease	Parkinson disease	CTD_human_DG	27713094	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Presenile dementia	Senile Dementia	CTD_human_DG	27713094	★★★★★ ★☆☆☆☆ Found in Text Mining only
Primary sclerosing cholangitis	Sclerosing Cholangitis	BEFREE	8276178	★★★★★ ★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	BEFREE	27088644	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	1969727, 26919467, 31451934	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	GWASCAT_DG	28540026	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	BEFREE	31624234	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Scleroderma	Scleroderma	BEFREE	22723597	★★★★★ ★☆☆☆☆ Found in Text Mining only
Selective immunoglobulin A deficiency	Selective Immunoglobulin A Deficiency	BEFREE	1438261	★★★★★ ★☆☆☆☆ Found in Text Mining only
Sleep Disorders	Sleep Disorders	BEFREE	2494138	★★★★★ ★☆☆☆☆ Found in Text Mining only
Systemic Scleroderma	Scleroderma	BEFREE	22723597, 23404077	★★★★★ ★☆☆☆☆ Found in Text Mining only
Thymoma	Thymoma	BEFREE	1973409	★★★★★ ★☆☆☆☆ Found in Text Mining only
Trichohepatoenteric Syndrome	Trichohepatoenteric Syndrome	BEFREE	6941466	★★★★★ ★☆☆☆☆ Found in Text Mining only

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathways	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
HLA-DRA	9	["Bullous pemphigoid","Cancer","Cervical cancer","Dermatomyositis","Estrogen-receptor negative breast cancer","Hyperthyroidism","Henoch schoenlein purpura","Ovarian serous carcinoma","Sarcoidosis"]	31	["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"]	10	["GWAS catalog (Bullous pemphigoid)","GWAS catalog (Cancer)","GWAS catalog (Cervical cancer)","GWAS catalog (Dermatomyositis)","GWAS catalog (Estrogen-receptor negative breast cancer)","GWAS catalog (Henoch schoenlein purpura)","GWAS catalog (Hyperthyroidism)","GWAS catalog (Ovarian serous carcinoma)","CTD (Parkinson disease)","GWAS catalog (Sarcoidosis)"]
HLA-DMB	5	["Cancer","Cervical cancer","Estrogen-receptor negative breast cancer","Ovarian serous carcinoma","Sarcoidosis"]	25	["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"]	5	["GWAS catalog (Cancer)","GWAS catalog (Cervical cancer)","GWAS catalog (Estrogen-receptor negative breast cancer)","GWAS catalog (Ovarian serous carcinoma)","GWAS catalog (Sarcoidosis)"]
HLA-DRB1	18	["Bullous pemphigoid","Cancer","Central nervous system non-hodgkin lymphoma","Cervical cancer","Crest syndrome","Acute disseminated encephalomyelitis","Estrogen-receptor negative breast cancer","Hyperthyroidism","Henoch schoenlein purpura","Hypersensitivity","Osteoporosis","Nephrotic syndrome"]	31	["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"]	17	["GWAS catalog (Bullous pemphigoid)","GWAS catalog (Cancer)","GWAS catalog (Central nervous system non-hodgkin lymphoma)","GWAS catalog (Cervical cancer)","Disgenet (Acute disseminated encephalomyelitis)","GWAS catalog (Estrogen-receptor negative breast cancer)","GWAS catalog (Henoch schoenlein purpura)","CTD (Hypersensitivity)","GWAS catalog (Hyperthyroidism)","GWAS catalog (Osteoporosis)","GWAS catalog (Nephrotic syndrome)","GWAS catalog (Myasthenia gravis)"]
HLA-DQA1	15	["Bullous pemphigoid","Cancer","Central nervous system non-hodgkin lymphoma","Cervical cancer","Dental caries","Estrogen-receptor negative breast cancer","Hyperthyroidism","Henoch schoenlein purpura","Hypersensitivity","Osteoporosis","Nephrotic syndrome","Myasthenia gravis"]	31	["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"]	16	["GWAS catalog (Bullous pemphigoid)","GWAS catalog (Cancer)","GWAS catalog (Central nervous system non-hodgkin lymphoma)","GWAS catalog (Cervical cancer)","GWAS catalog (Dental caries)","GWAS catalog (Estrogen-receptor negative breast cancer)","GWAS catalog (Henoch schoenlein purpura)","CTD (Hypersensitivity)","GWAS catalog (Hyperthyroidism)","GWAS catalog (Osteoporosis)","GWAS catalog (Nephrotic syndrome)","GWAS catalog (Myasthenia gravis)"]
HLA-DPB1	6	["Systemic scleroderma","Cervical cancer","Dermatomyositis","Hyperthyroidism","Myasthenia gravis","Sarcoidosis"]	31	["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"]	4	["GWAS catalog (Systemic scleroderma)","GWAS catalog (Cervical cancer)","GWAS catalog (Dermatomyositis)","GWAS catalog (Hyperthyroidism)"]

HLA-DRB5 (major histocompatibility complex, class II, DR beta 5)

Bookmark This Gene