Gene Gene information from NCBI Gene database. Download as csv Download as pdf
Entrez ID	3122
Gene name	Major histocompatibility complex, class II, DR alpha
Gene symbol	HLA-DRA
Synonyms (NCBI Gene)	HLA-DRA1
Chromosome	6
Chromosome location	6p21.32
Summary	HLA-DRA is one of the HLA class II alpha chain paralogues. This class II molecule is a heterodimer consisting of an alpha and a beta chain, both anchored in the membrane. This molecule is expressed on the surface of various antigen presenting cells such a

41 Show/Hide all (41)

miRTarBase ID	miRNA	Experiments	Reference
MIRT401743	hsa-miR-548c-3p	PAR-CLIP	23592263
MIRT392159	hsa-miR-4496	PAR-CLIP	23592263
MIRT401741	hsa-miR-128-3p	PAR-CLIP	23592263
MIRT401739	hsa-miR-216a-3p	PAR-CLIP	23592263
MIRT401744	hsa-miR-3681-3p	PAR-CLIP	23592263
MIRT487344	hsa-miR-3928-3p	PAR-CLIP	23592263
MIRT487343	hsa-miR-124-5p	PAR-CLIP	23592263
MIRT401738	hsa-miR-27a-3p	PAR-CLIP	23592263
MIRT401740	hsa-miR-27b-3p	PAR-CLIP	23592263
MIRT401745	hsa-miR-3915	PAR-CLIP	23592263
MIRT487342	hsa-miR-1224-5p	PAR-CLIP	23592263
MIRT487341	hsa-miR-4689	PAR-CLIP	23592263
MIRT487340	hsa-miR-6858-5p	PAR-CLIP	23592263
MIRT487339	hsa-miR-1304-5p	PAR-CLIP	23592263
MIRT401743	hsa-miR-548c-3p	PAR-CLIP	23592263
MIRT392159	hsa-miR-4496	PAR-CLIP	23592263
MIRT401741	hsa-miR-128-3p	PAR-CLIP	23592263
MIRT401739	hsa-miR-216a-3p	PAR-CLIP	23592263
MIRT401744	hsa-miR-3681-3p	PAR-CLIP	23592263
MIRT487344	hsa-miR-3928-3p	PAR-CLIP	23592263
MIRT487343	hsa-miR-124-5p	PAR-CLIP	23592263
MIRT401738	hsa-miR-27a-3p	PAR-CLIP	23592263
MIRT401740	hsa-miR-27b-3p	PAR-CLIP	23592263
MIRT401745	hsa-miR-3915	PAR-CLIP	23592263
MIRT487342	hsa-miR-1224-5p	PAR-CLIP	23592263
MIRT487341	hsa-miR-4689	PAR-CLIP	23592263
MIRT487340	hsa-miR-6858-5p	PAR-CLIP	23592263
MIRT487339	hsa-miR-1304-5p	PAR-CLIP	23592263
MIRT1048447	hsa-miR-3148	CLIP-seq
MIRT1048448	hsa-miR-3158-3p	CLIP-seq
MIRT1048449	hsa-miR-3652	CLIP-seq
MIRT1048450	hsa-miR-4430	CLIP-seq
MIRT1048451	hsa-miR-4446-3p	CLIP-seq
MIRT1048452	hsa-miR-4492	CLIP-seq
MIRT1048453	hsa-miR-4498	CLIP-seq
MIRT1048454	hsa-miR-4699-5p	CLIP-seq
MIRT1048455	hsa-miR-4728-3p	CLIP-seq
MIRT1048456	hsa-miR-762	CLIP-seq
MIRT1048457	hsa-miR-875-3p	CLIP-seq
MIRT2682322	hsa-miR-298	CLIP-seq
MIRT2682323	hsa-miR-4422	CLIP-seq

11 Show/Hide all (11)

Transcription factor	Regulation	Reference
CIITA	Activation	9600954
CIITA	Unknown	10886240;11429551;11889043;9300692
HDAC1	Repression	11533238
ILF3	Repression	10079079
ILF3	Unknown	7651394
POU2F2	Unknown	7629508
RFX1	Unknown	11889043
RFX5	Unknown	11258423
RFXANK	Unknown	11258423
RFXAP	Unknown	11258423
YY1	Unknown	11533238;19252299

63 Show/Hide all (63)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000139	Component	Golgi membrane	TAS
GO:0001772	Component	Immunological synapse	IDA	15322540, 29884618
GO:0001916	Process	Positive regulation of T cell mediated cytotoxicity	IDA	29884618
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	29884618
GO:0002491	Process	Antigen processing and presentation of endogenous peptide antigen via MHC class II	IDA	15322540
GO:0002503	Process	Peptide antigen assembly with MHC class II protein complex	IBA
GO:0002503	Process	Peptide antigen assembly with MHC class II protein complex	IDA	1448172, 7606781, 22733780
GO:0002504	Process	Antigen processing and presentation of peptide or polysaccharide antigen via MHC class II	IDA	21502329
GO:0002504	Process	Antigen processing and presentation of peptide or polysaccharide antigen via MHC class II	IEA
GO:0005515	Function	Protein binding	IPI	9354468, 27114505
GO:0005764	Component	Lysosome	IDA	8890155
GO:0005764	Component	Lysosome	IEA
GO:0005765	Component	Lysosomal membrane	IBA
GO:0005765	Component	Lysosomal membrane	IDA	9075930, 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	8890155
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	NAS	6304715, 6812963
GO:0005886	Component	Plasma membrane	TAS
GO:0006955	Process	Immune response	IEA
GO:0006955	Process	Immune response	NAS	6304715, 6812963
GO:0009986	Component	Cell surface	IDA	21502329
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:0019886	Process	Antigen processing and presentation of exogenous peptide antigen via MHC class II	IDA	15265931
GO:0023026	Function	MHC class II protein complex binding	HDA	20458337
GO:0023026	Function	MHC class II protein complex binding	IBA
GO:0030247	Function	Polysaccharide binding	IDA	21502329
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:0031901	Component	Early endosome membrane	IEA
GO:0031902	Component	Late endosome membrane	IBA
GO:0031902	Component	Late endosome membrane	IDA	9075930, 18305173, 19117940
GO:0031902	Component	Late endosome membrane	IEA
GO:0032395	Function	MHC class II receptor activity	NAS	6304715, 6812963
GO:0032588	Component	Trans-Golgi network membrane	TAS
GO:0032831	Process	Positive regulation of CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation	IDA	28467828
GO:0042605	Function	Peptide antigen binding	IBA
GO:0042605	Function	Peptide antigen binding	IDA	1448172, 7477400, 7606781, 17583734, 18697946, 21502329, 22733780
GO:0042608	Function	T cell receptor binding	IDA	29884618
GO:0042613	Component	MHC class II protein complex	IBA
GO:0042613	Component	MHC class II protein complex	IDA	1448172, 7477400, 7606781, 21502329, 22733780
GO:0042613	Component	MHC class II protein complex	IEA
GO:0042613	Component	MHC class II protein complex	IMP	9354468
GO:0043382	Process	Positive regulation of memory T cell differentiation	IDA	27591323
GO:0045622	Process	Regulation of T-helper cell differentiation	IDA	15322540
GO:0050778	Process	Positive regulation of immune response	IBA
GO:0050870	Process	Positive regulation of T cell activation	IBA
GO:0050890	Process	Cognition	IMP	23227193
GO:0070062	Component	Extracellular exosome	HDA	11487543, 12519789, 19056867, 19199708, 20458337
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	15265931

MIM	HGNC	e!Ensembl
142860	4947	ENSG00000204287

P01903

Protein name

HLA class II histocompatibility antigen, DR alpha chain (MHC class II antigen DRA)

Protein function

An alpha chain of antigen-presenting major histocompatibility complex class II (MHCII) molecule. In complex with the beta chain HLA-DRB, displays antigenic peptides on professional antigen presenting cells (APCs) for recognition by alpha-beta T

PDB

1A6A , 1AQD , 1BX2 , 1D5M , 1D5X , 1D5Z , 1D6E , 1DLH , 1FV1 , 1FYT , 1H15 , 1HQR , 1HXY , 1J8H , 1JWM , 1JWS , 1JWU , 1KG0 , 1KLG , 1KLU , 1LO5 , 1PYW , 1R5I , 1SEB , 1SJE , 1SJH , 1T5W , 1T5X , 1YMM , 1ZGL , 2FSE , 2G9H , 2IAM , 2IAN , 2ICW , 2IPK , 2OJE , 2Q6W , 2SEB , 2WBJ , 2XN9 , 3C5J , 3L6F , 3O6F , 3PDO , 3PGC , 3PGD , 3QXA , 3QXD , 3S4S , 3S5L

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00993	MHC_II_alpha	29 → 108	Class II histocompatibility antigen, alpha domain	Domain
PF07654	C1-set	114 → 195	Immunoglobulin C1-set domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Expressed in professional APCs: macrophages, dendritic cells and B cells (at protein level) (PubMed:15322540, PubMed:23783831, PubMed:31495665). Expressed in thymic epithelial cells (at protein level) (PubMed:23783831). {ECO:0000269|Pu

Sequence

MAISGVPVLGFFIIAVLMSAQESWAIKEEHVIIQAEFYLNPDQSGEFMFDFDGDEIFHVD
MAKKETVWRLEEFGRFASFEAQGALANIAVDKANLEIMTKRSNYTPITNVPPEVTVLTNS
PVELREPNVLICFIDKFTPPVVNVTWLRNGKPVTTGVSETVFLPREDHLFRKFHYLPFLP
STEDVYDCRVEHWGLDEPLLKHWEFDAPSPLPETTENVVCALGLTVGLVGIIIGTIFIIK
GLRKSNAAERRGPL

Sequence length

254

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 (73)
ALZHEIMER DISEASE	—	GWAS catalog	30617256, 35851147, 39998322	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANTIPHOSPHOLIPID SYNDROME	—	GWAS catalog	28424481	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ASTHMA	—	Disgenet, GWAS catalog Disgenet, GWAS catalog	21804548, 23028483, 29273806, 31669095, 34212547, 36329257	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATOPIC ASTHMA	—	GWAS catalog	31669095	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER	—	GWAS catalog	28540026	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOIMMUNE THYROIDITIS	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL DOMINANT LATE ONSET PARKINSON DISEASE	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AZOOSPERMIA	—	GWAS catalog	22541561	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BASAL CELL CARCINOMA	—	GWAS catalog	38182794	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BILIARY LIVER CIRRHOSIS	—	GWAS catalog	28062665, 28425483	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BILIARY TRACT CANCER	—	GWAS catalog	34290314	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA	—	GWAS catalog	34290314	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BULLOUS PEMPHIGOID	—	GWAS catalog	37156394	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CANCER	—	GWAS catalog	34290314	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CELIAC DISEASE	—	GWAS catalog	39789286	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CERVICAL CARCINOMA	—	GWAS catalog	34290314	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHILDHOOD ONSET ASTHMA	—	GWAS catalog	31669095	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC INTERSTITIAL CYSTITIS	—	GWAS catalog	39620209	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER	—	GWAS catalog	34290314	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DERMATOMYOSITIS	—	GWAS catalog	26362759	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ENDOMETRIAL CANCER	—	GWAS catalog	34290314	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ESOPHAGEAL CANCER	—	GWAS catalog	34290314	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ESTROGEN-RECEPTOR NEGATIVE BREAST CANCER	—	GWAS catalog	34290314	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL HYPERLIPIDEMIA	—	GWAS catalog	34906840	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GASTRIC CANCER	—	GWAS catalog	34290314	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GASTROESOPHAGEAL REFLUX DISEASE	—	GWAS catalog	35851147	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GOUT	—	GWAS catalog	39406924	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEARING LOSS	—	GWAS catalog	35661827	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HENOCH-SCHOENLEIN PURPURA	—	GWAS catalog	33591409	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEPATITIS C INDUCED LIVER CIRRHOSIS	—	GWAS catalog	23321320	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEPATOCELLULAR CARCINOMA	—	GWAS catalog	34290314	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HODGKINS LYMPHOMA	—	GWAS catalog	35939300	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTHYROIDISM	—	GWAS catalog	40465716	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPOTHYROIDISM	—	GWAS catalog	38368726	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IGA GLOMERULONEPHRITIS	—	GWAS catalog	25305756, 34076728, 37337107	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INFLAMMATORY BOWEL DISEASE	—	GWAS catalog	28506689, 37377963, 37965154	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
JUVENILE DERMATOMYOSITIS	—	GWAS catalog	26362759	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG ADENOCARCINOMA	—	GWAS catalog	28604730, 34290314, 35915169	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG CANCER	—	GWAS catalog	28604730, 34290314	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG CARCINOMA	—	GWAS catalog	28604730, 34290314	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MULTIPLE SCLEROSIS	—	CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog	17660530, 19525953, 20159113, 22190364, 23472185	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOCARDIAL INFARCTION	—	GWAS catalog	38072966	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOSITIS	—	GWAS catalog	26362759, 36580032	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-HODGKINS LYMPHOMA	—	GWAS catalog	32887889, 34290314, 37340002	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ORAL CAVITY CANCER	—	GWAS catalog	34642315	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN CANCER	—	GWAS catalog	34290314	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN CARCINOMA	—	GWAS catalog	34290314	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN ENDOMETRIOID CARCINOMA	—	GWAS catalog	34290314	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN SEROUS CARCINOMA	—	GWAS catalog	34290314	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PANCREATIC CARCINOMA	—	GWAS catalog	34290314	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARKINSON DISEASE	—	CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog	20711177, 22451204, 24511991	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARKINSON DISEASE, LATE-ONSET	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PEMPHIGUS VULGARIS	—	GWAS catalog	29857070	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PEPTIC ULCER DISEASE	—	GWAS catalog	35851147	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PRIMARY BILIARY CIRRHOSIS	—	GWAS catalog	28062665, 28425483	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CANCER	—	GWAS catalog	25217961, 29892016, 34290314	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CARCINOMA	—	GWAS catalog	25217961, 29892016, 34290314	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSORIASIS	—	GWAS catalog	38815935, 39883516, 39885523	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RHEUMATOID ARTHRITIS	—	GWAS catalog	24449572, 26272072, 37377963, 37947095, 38368726, 39620209	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SARCOIDOSIS	—	GWAS catalog	22952805, 26651848, 37399103	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	28540026	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCLEROSING CHOLANGITIS	—	GWAS catalog	38490347	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEASONAL ALLERGIC RHINITIS	—	GWAS catalog	39789286	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SJOGREN SYNDROME	—	GWAS catalog	24097067	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SQUAMOUS CELL CARCINOMA	—	GWAS catalog	28604730	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SQUAMOUS CELL LUNG CARCINOMA	—	GWAS catalog	34290314	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SYSTEMIC JUVENILE IDIOPATHIC ARTHRITIS	—	GWAS catalog	27927641	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SYSTEMIC LUPUS ERYTHEMATOSUS	—	GWAS catalog	19838195, 33272962, 34076728	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SYSTEMIC SCLERODERMA	—	GWAS catalog	21779181	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 1 DIABETES MELLITUS	—	GWAS catalog	19430480, 33179336	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	19430480, 39024449	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ULCERATIVE COLITIS	—	GWAS catalog	28008999, 28506689, 37262302	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UPPER AERODIGESTIVE TRACT NEOPLASM	—	GWAS catalog	33667223	★★★★★ ★★☆☆☆ 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 (66)
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	21067287	★★★★★ ★☆☆☆☆ Found in Text Mining only
Adult Acute Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	21067287	★★★★★ ★☆☆☆☆ Found in Text Mining only
Alopecia	Alopecia	HPO_DG		★★★★★ ★☆☆☆☆ Found in Text Mining only
Alzheimer Disease, Late Onset	Alzheimer disease	BEFREE	27088644	★★★★★ ★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	22391069, 22694930, 23181788, 23200760	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autoimmune Diseases	Autoimmune Diseases	BEFREE	8676084	★★★★★ ★☆☆☆☆ Found in Text Mining only
Azoospermia, Nonobstructive	Azoospermia	BEFREE	22541561	★★★★★ ★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar Disorder	BEFREE	26160200	★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	30712460	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Childhood Acute Lymphoblastic Leukemia	Lymphoblastic Leukemia	BEFREE	21067287	★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic rhinosinusitis with nasal polyps	Rhinosinusitis With Nasal Polyps	BEFREE	29253858	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	21804607	★★★★★ ★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	BEFREE	21830272	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	GWASDB_DG	17632545, 19430480	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	19143813, 19591919, 30447278, 30962219	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	GWASCAT_DG	19430480	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	21484216	★★★★★ ★☆☆☆☆ Found in Text Mining only
Disorder of eye	Disorder Of Eye	BEFREE	30374345	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dry Eye Syndromes	Dry Eye Syndromes	BEFREE	30374345	★★★★★ ★☆☆☆☆ Found in Text Mining only
Fuchs Endothelial Dystrophy	Fuchs Endothelial Dystrophy	BEFREE	28481834	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	2847168	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	2847168	★★★★★ ★☆☆☆☆ Found in Text Mining only
Graham Little Piccardi Lassueur syndrome	Graham Little Piccardi Lassueur Syndrome	GENOMICS_ENGLAND_DG		★★★★★ ★☆☆☆☆ Found in Text Mining only
Graham Little-Piccardi-Lassueur syndrome	Graham Little Piccardi Lassueur Syndrome	Orphanet		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hemophilia A	Hemophilia	BEFREE	27471234	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin Disease	GWASDB_DG	24149102	★★★★★ ★☆☆☆☆ Found in Text Mining only
IGA Glomerulonephritis	Glomerulonephritis	BEFREE	12376743, 24458077	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	26636514	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lichen planus follicularis	Lichen planopilaris	GENOMICS_ENGLAND_DG		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	LHGDN	15688398	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	GWASDB_DG	18204446, 24871463	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	GWASCAT_DG	19838195	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	24458077	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	30712460	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	21805043	★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	10527398, 19834503, 21067287	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Multiple Sclerosis	Multiple Sclerosis	CTD_human_DG	17660530	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Multiple Sclerosis	Multiple Sclerosis	LHGDN	17660530	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Multiple Sclerosis	Multiple Sclerosis	GWASDB_DG	17660530, 20598377	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Multiple Sclerosis, Acute Fulminating	Multiple Sclerosis	CTD_human_DG	17660530	★★★★★ ★☆☆☆☆ Found in Text Mining only
Narcolepsy	Narcolepsy	GWASDB_DG	19629137	★★★★★ ★☆☆☆☆ Found in Text Mining only
Nasal Polyps	Nasal polyposis	BEFREE	22391069	★★★★★ ★☆☆☆☆ Found in Text Mining only
Non-obstructive azoospermia	Non-obstructive azoospermia	GWASDB_DG	22541561	★★★★★ ★☆☆☆☆ Found in Text Mining only
Non-obstructive azoospermia	Non-obstructive azoospermia	BEFREE	25505198	★★★★★ ★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	16360016	★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	GWASDB_DG	20711177, 24511991	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Parkinson Disease	Parkinson disease	CTD_human_DG	20711177	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Parkinson Disease	Parkinson disease	GWASCAT_DG	20711177, 24511991	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Parkinson Disease	Parkinson disease	BEFREE	21482477, 22243834, 22807207, 24039160, 24373818, 24849299, 25319953, 25720714	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pemphigus Vulgaris	Pemphigus Vulgaris	BEFREE	29857070	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Perifollicular hyperkeratosis	Perifollicular hyperkeratosis	HPO_DG		★★★★★ ★☆☆☆☆ Found in Text Mining only
Primary biliary cirrhosis	Biliary Cirrhosis	GWASCAT_DG	28062665, 28425483	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Primary biliary cirrhosis	Biliary Cirrhosis	BEFREE	28425483	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Rheumatoid Arthritis	Rheumatoid arthritis	GWASDB_DG	17804836, 19503088, 21156761	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoidosis	Sarcoidosis	GWASDB_DG	19165924, 22952805	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoidosis	Sarcoidosis	BEFREE	23151485, 24663488	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoidosis	Sarcoidosis	GWASCAT_DG	26651848	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	BEFREE	26160200	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Septicemia	Septicemia	BEFREE	27144640, 28692472, 28862321, 29959455, 30097607, 31386235	★★★★★ ★☆☆☆☆ Found in Text Mining only
Sjogren`s Syndrome	Sjogren`s Syndrome	GWASCAT_DG	24097067	★★★★★ ★☆☆☆☆ Found in Text Mining only
Systemic Scleroderma	Scleroderma	GWASCAT_DG	21779181	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Systemic Scleroderma	Scleroderma	GWASDB_DG	21779181	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Toxic Shock Syndrome	Toxic Shock Syndrome	CTD_human_DG	28771573	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	BEFREE	22694930, 29733354, 29905830	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ulcerative Colitis	Ulcerative colitis	GWASCAT_DG	28008999	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveitis, Posterior	Uveitis	BEFREE	27609017	★★★★★ ★☆☆☆☆ Found in Text Mining only

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathways	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
HLA-DQB1	32	["Antiphospholipid syndrome","Autoimmune thyroid disease","Biliary cirrhosis","Biliary tract cancer","Bullous pemphigoid","Cancer","Celiac disease","Cervical cancer","Interstitial cystitis","Hodgkin lymphoma","Endometrial cancer","Esophageal cancer"]	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"]	37	["Disgenet (Asthma)","Disgenet (Autoimmune thyroid disease)","GWAS catalog (Basal cell carcinoma)","GWAS catalog (Biliary cirrhosis)","GWAS catalog (Biliary tract cancer)","GWAS catalog (Bullous pemphigoid)","GWAS catalog (Cancer)","GWAS catalog (Celiac disease)","GWAS catalog (Cervical cancer)","GWAS catalog (Interstitial cystitis)","GWAS catalog (Hodgkin lymphoma)","GWAS catalog (Endometrial cancer)"]
HLA-DQA1	28	["Antiphospholipid syndrome","Autoimmune thyroid disease","Azoospermia","Biliary cirrhosis","Bullous pemphigoid","Cancer","Celiac disease","Cervical cancer","Interstitial cystitis","Hodgkin lymphoma","Estrogen-receptor negative breast cancer","Hyperlipidemia"]	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"]	29	["Disgenet (Asthma)","Disgenet (Autoimmune thyroid disease)","GWAS catalog (Azoospermia)","GWAS catalog (Basal cell carcinoma)","GWAS catalog (Bullous pemphigoid)","GWAS catalog (Cancer)","GWAS catalog (Celiac disease)","GWAS catalog (Cervical cancer)","GWAS catalog (Interstitial cystitis)","GWAS catalog (Hodgkin lymphoma)","GWAS catalog (Estrogen-receptor negative breast cancer)","GWAS catalog (Hyperlipidemia)"]
HLA-DRB1	25	["Antiphospholipid syndrome","Autoimmune thyroid disease","Azoospermia","Bullous pemphigoid","Cancer","Celiac disease","Cervical cancer","Interstitial cystitis","Hodgkin lymphoma","Estrogen-receptor negative breast cancer","Hyperlipidemia","Hyperthyroidism"]	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"]	28	["Disgenet (Asthma)","Disgenet (Autoimmune thyroid disease)","Disgenet (Parkinson disease)","GWAS catalog (Azoospermia)","GWAS catalog (Basal cell carcinoma)","GWAS catalog (Bullous pemphigoid)","GWAS catalog (Cancer)","GWAS catalog (Celiac disease)","GWAS catalog (Cervical cancer)","GWAS catalog (Interstitial cystitis)","GWAS catalog (Hodgkin lymphoma)","GWAS catalog (Estrogen-receptor negative breast cancer)"]
HLA-DRB5	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-DPB1	9	["Biliary cirrhosis","Celiac disease","Cervical cancer","Dermatomyositis","Hyperthyroidism","Biliary cholangitis","Sarcoidosis","Sjogren syndrome","Systemic sclerosis"]	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"]	11	["Disgenet (Asthma)","GWAS catalog (Biliary cirrhosis)","GWAS catalog (Celiac disease)","GWAS catalog (Cervical cancer)","GWAS catalog (Dermatomyositis)","GWAS catalog (Hyperthyroidism)","Disgenet (Multiple sclerosis)","CTD (Multiple sclerosis)","GWAS catalog (Biliary cholangitis)","GWAS catalog (Sjogren syndrome)","GWAS catalog (Systemic sclerosis)"]

HLA-DRA (major histocompatibility complex, class II, DR alpha)

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