HLA-DQA1 (major histocompatibility complex, class II, DQ alpha 1)

Gene

• Entrez ID: 3117
• Gene name: Major histocompatibility complex, class II, DQ alpha 1
• Gene symbol: HLA-DQA1
• Synonyms (NCBI Gene): CELIAC1, DQ-A1, DQA1, HLA-DQA, HLA-DQA1*, HLA-DQB1
• Chromosome: 6
• Chromosome location: 6p21.32
• Summary: HLA-DQA1 belongs to the HLA class II alpha chain paralogues. The class II molecule is a heterodimer consisting of an alpha (DQA) and a beta chain (DQB), both anchored in the membrane. It plays a central role in the immune system by presenting peptides der

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT023357	hsa-miR-122-5p	Microarray	17612493
MIRT723077	hsa-miR-4645-5p	HITS-CLIP	19536157
MIRT723076	hsa-miR-4673	HITS-CLIP	19536157
MIRT723075	hsa-miR-6798-3p	HITS-CLIP	19536157
MIRT723077	hsa-miR-4645-5p	HITS-CLIP	19536157
MIRT723076	hsa-miR-4673	HITS-CLIP	19536157
MIRT723075	hsa-miR-6798-3p	HITS-CLIP	19536157
MIRT2243280	hsa-miR-1270	CLIP-seq
MIRT2243281	hsa-miR-137	CLIP-seq
MIRT2243282	hsa-miR-2115	CLIP-seq
MIRT2243283	hsa-miR-3189-3p	CLIP-seq
MIRT2243284	hsa-miR-3977	CLIP-seq
MIRT2243285	hsa-miR-432	CLIP-seq
MIRT2243286	hsa-miR-4531	CLIP-seq
MIRT2243287	hsa-miR-4683	CLIP-seq
MIRT2243288	hsa-miR-502-5p	CLIP-seq
MIRT2243289	hsa-miR-516a-3p	CLIP-seq
MIRT2243290	hsa-miR-620	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
ILF3	Unknown	7651394
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: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	14769912, 17629515, 29997244, 33961781
GO:0005764	Component	Lysosome	IEA
GO:0005765	Component	Lysosomal membrane	IBA
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	NAS	3584986, 6415485
GO:0005886	Component	Plasma membrane	TAS
GO:0006955	Process	Immune response	IEA
GO:0006955	Process	Immune response	NAS	3584986, 6415485
GO:0010008	Component	Endosome membrane	IEA
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: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:0032395	Function	MHC class II receptor activity	NAS	3584986, 6415485
GO:0032395	Function	MHC class II receptor activity	TAS	2300572
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:0098553	Component	Lumenal side of endoplasmic reticulum membrane	TAS

Other IDs

• MIM: 146880
• HGNC: 4942
• e!Ensembl: ENSG00000196735

Protein

• UniProt ID: P01909
• Protein name: HLA class II histocompatibility antigen, DQ alpha 1 chain (DC-1 alpha chain) (DC-alpha) (HLA-DCA) (MHC class II DQA1)
• 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: 1JK8, 1S9V, 1UVQ, 2NNA, 4GG6, 4OZF, 4OZG, 4OZH, 4OZI, 5KSA, 5KSB, 5KSU, 5KSV, 6MFF, 6MFG, 6U3M, 6U3N, 6XP6, 7SG0, 7SG1, 7SG2, 8VSP, 8W83, 8W84, 8W85, 8W86
• 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

• Sequence:

  MILNKALMLGALALTTVMSPCGGEDIVADHVASYGVNLYQSYGPSGQYTHEFDGDEQFYV
  DLGRKETVWCLPVLRQFRFDPQFALTNIAVLKHNLNSLIKRSNSTAATNEVPEVTVFSKS
  PVTLGQPNILICLVDNIFPPVVNITWLSNGHSVTEGVSETSFLSKSDHSFFKISYLTLLP
  SAEESYDCKVEHWGLDKPLLKHWEPEIPAPMSELTETVVCALGLSVGLVGIVVGTVFIIR
  GLRSVGASRHQGPL

• Sequence length: 254

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
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANKYLOSING SPONDYLITIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANKYLOSING SPONDYLITIS AND OTHER INFLAMMATORY SPONDYLOPATHIES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANTI-NEUTROPHIL ANTIBODY ASSOCIATED VASCULITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANTIPHOSPHOLIPID SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
APLASTIC ANEMIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ARTHRITIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ASTHMA	—	CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATOPIC ASTHMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATOPIC ECZEMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOIMMUNE DISORDER OF MUSCULOSKELETAL SYSTEM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOIMMUNE HEPATITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOIMMUNE SYNDROME TYPE II, POLYGLANDULAR	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOIMMUNE THYROID DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOIMMUNE THYROIDITIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AZOOSPERMIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BASAL CELL CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BENIGN HEREDITARY CHOREA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BILIARY CIRRHOSIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BONE DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BOUILLAUDS DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BRAIN INFARCTION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BULLOUS PEMPHIGOID	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BURKITTS LYMPHOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, DILATED	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, DILATED, 1H	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARPAL TUNNEL SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARTILAGE DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CATARACT	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CELIAC DISEASE	—	CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CENTRAL NERVOUS SYSTEM NON-HODGKIN LYMPHOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CERVICAL CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CERVICAL CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CERVICAL INTRAEPITHELIAL NEOPLASIA GRADE 2/3	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHILDHOOD ONSET ASTHMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHOREA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHOREA, BENIGN FAMILIAL	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC BRONCHITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC FATIGUE SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC INTERSTITIAL CYSTITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC LYMPHOCYTIC LEUKEMIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC OBSTRUCTIVE ASTHMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC OBSTRUCTIVE PULMONARY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC RHINOSINUSITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLD PAROXYSMAL HEMOGLOBINURIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLLAGENOUS COLITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL ADENOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CROHN'S DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CRYOGLOBULINEMIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CUTANEOUS LUPUS ERYTHEMATOSUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CUTANEOUS MELANOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CUTANEOUS SQUAMOUS CELL CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DENTAL CARIES	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DERMATITIS	—	CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DERMATOMYCOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DERMATOPHYTOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, INSULIN-DEPENDENT	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, NON-INSULIN-DEPENDENT	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, TYPE 1	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETIC KETOACIDOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETIC NEPHROPATHY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIFFUSE SCLERODERMA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIGESTIVE SYSTEM DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EDEMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EOSINOPHILIA-MYALGIA SYNDROME	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ESOPHAGEAL ACHALASIA	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ESOPHAGEAL SQUAMOUS CELL CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ESTROGEN-RECEPTOR NEGATIVE BREAST CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EYE DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL HYPERLIPIDEMIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FEMALE REPRODUCTIVE SYSTEM DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GASTROPARESIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLOMERULONEPHRITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GOUT	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GRAVES DISEASE	—	Disgenet, GWAS catalog Disgenet, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HASHIMOTO'S THYROIDITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEARING LOSS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBINURIA, PAROXYSMAL	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOPHILIA A	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMORRHAGIC FEVER WITH RENAL SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HENOCH-SCHOENLEIN PURPURA	—	Disgenet, GWAS catalog Disgenet, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEPATITIS B	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEPATITIS C	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEPATOCELLULAR CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HODGKINS LYMPHOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERSENSITIVITY	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSIVE DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTHYROIDISM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPOTHYROIDISM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IGA GLOMERULONEPHRITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IMMUNE SYSTEM DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INFLAMMATORY BOWEL DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSOMNIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
JUVENILE CHRONIC POLYARTHRITIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
JUVENILE IDIOPATHIC ARTHRITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KERATINOCYTE CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LATE-ONSET ALZHEIMER'S DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LATE-ONSET MYASTHENIA GRAVIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LATENT AUTOIMMUNE DIABETES IN ADULTS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEISHMANIASIS, VISCERAL	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEPROSY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEPROSY, LEPROMATOUS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER CIRRHOSIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER NEOPLASM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG ADENOCARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUPUS ERYTHEMATOSUS, SYSTEMIC	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUPUS NEPHRITIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LYMPHEDEMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LYMPHOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MEMBRANOUS GLOMERULONEPHRITIS	—	Disgenet, GWAS catalog Disgenet, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MONOARTICULAR JUVENILE RHEUMATOID ARTHRITIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MULTIPLE MYELOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MULTIPLE SCLEROSIS	—	Disgenet, GWAS catalog Disgenet, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYASTHENIA GRAVIS	—	Disgenet, GWAS catalog Disgenet, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOSITIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NARCOLEPSY	—	Disgenet, GWAS catalog Disgenet, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NARCOLEPSY-CATAPLEXY SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NASAL CAVITY POLYP	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NASOPHARYNGEAL NEOPLASM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEPHROTIC SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEUROBLASTOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-ALCOHOLIC FATTY LIVER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-HODGKINS LYMPHOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-MELANOMA SKIN CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-SMALL CELL LUNG CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OCULAR SARCOIDOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OROPHARYNGEAL NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OROPHARYNX CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOPOROSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN ENDOMETRIOID CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN SEROUS CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PANCREATITIS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARKINSON DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PAROXYSMAL NOCTURNAL HEMOGLOBINURIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PAUCIARTICULAR JUVENILE RHEUMATOID ARTHRITIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PEMPHIGUS	—	Disgenet, GWAS catalog Disgenet, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PEMPHIGUS VULGARIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PEPTIC ULCER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PERIPHERAL ARTERIAL DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PRIMARY BILIARY CHOLANGITIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROTEINURIA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSORIASIS	—	Disgenet, GWAS catalog Disgenet, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSORIATIC ARTHRITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RESPIRATORY SYSTEM DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RESPIRATORY TRACT INFECTIOUS DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RETINOPATHY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RHEUMATIC FEVER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RHEUMATIC FEVER WITHOUT HEART INVOLVEMENT	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RHEUMATIC HEART DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RHEUMATOID ARTHRITIS	—	Disgenet, GWAS catalog Disgenet, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RHINITIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RHINOSCLEROMA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ROSACEA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SARCOIDOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCLEROSING CHOLANGITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEASONAL ALLERGIC RHINITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SELECTIVE IGA DEFICIENCY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SICCA SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SINUSITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SJOGREN SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SJOGRENS SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SKELETAL SYSTEM DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SKIN CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SKIN DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SKIN NEOPLASM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SMALL CELL LUNG CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SQUAMOUS CELL CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SQUAMOUS CELL LUNG CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SYSTEMIC LUPUS ERYTHEMATOSUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SYSTEMIC SCLERODERMA	—	Disgenet, GWAS catalog Disgenet, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
THROMBOPHILIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
THYROID DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
THYROIDITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TUBERCULOMA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 1 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 1 DIABETES NEPHROPATHY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ULCERATIVE COLITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UPPER AERODIGESTIVE TRACT NEOPLASM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UROLITHIASIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
URTICARIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UVEOMENINGOENCEPHALITIC SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VISCERAL LEISHMANIASIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VITILIGO	—	Disgenet, GWAS catalog Disgenet, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VOGT-KOYANAGI-HARADA DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
WHEAT ALLERGIC REACTION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acral Lentiginous Malignant Melanoma	Acral Lentiginous Malignant Melanoma	BEFREE	9174138		★☆☆☆☆ Found in Text Mining only
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	28596278		★☆☆☆☆ Found in Text Mining only
Addison Disease	Addison`s Disease	BEFREE	11703366, 12072047, 25040682, 30968193, 7608264, 9398726		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	20061363		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of colon	Adenocarcinoma Of Colon	BEFREE	11972882		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	GWASDB_DG	19836008		★☆☆☆☆ Found in Text Mining only
Adult type dermatomyositis	Dermatomyositis	BEFREE	11937576, 27153935		★☆☆☆☆ Found in Text Mining only
Adult-onset myasthenia gravis	Myasthenia Gravis	Orphanet			★☆☆☆☆ Found in Text Mining only
Age related macular degeneration	Age-related macular degeneration	BEFREE	25665771		★☆☆☆☆ Found in Text Mining only
Aggressive Periodontitis	Aggressive Periodontitis	BEFREE	23317308, 8884646		★☆☆☆☆ Found in Text Mining only
Agranulocytosis	Agranulocytosis	BEFREE	8845862		★☆☆☆☆ Found in Text Mining only
Allergic rhinitis (disorder)	Allergic rhinitis	BEFREE	14990915		★☆☆☆☆ Found in Text Mining only
Alloimmunisation	Alloimmunisation	BEFREE	9271820		★☆☆☆☆ Found in Text Mining only
Alopecia	Alopecia	BEFREE	11699726, 12734793		★☆☆☆☆ Found in Text Mining only
Alopecia	Alopecia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Anemia, Macrocytic	Anemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ankylosing spondylitis	Ankylosing Spondylitis	BEFREE	12021150, 19565552, 24048351		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anxiety	Anxiety Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm, Abdominal	Aortic Aneurysm	BEFREE	16879749, 17182961		★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm, Abdominal	Aortic Aneurysm	LHGDN	16879749		★☆☆☆☆ Found in Text Mining only
Aplastic Anemia	Aplastic anemia	LHGDN	12070003		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Aplastic Anemia	Aplastic anemia	BEFREE	7994040		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Arthritis	Arthritis	BEFREE	20472930, 21305521, 26524976, 9794442		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Asthma	Asthma	BEFREE	10051703, 12890388, 19052351, 23181788, 24838153, 31095684, 8777952, 9327077		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Asthma	Asthma	CTD_human_DG	10792356		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Asthma	Asthma	LHGDN	11953202		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Asthma	Asthma	GWASDB_DG	21150878, 23181788		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Asthma	Asthma	GWASCAT_DG	23181788, 27130862, 27182965, 29273806, 29785011, 30929738, 31036433, 31619474		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autoimmune Chronic Hepatitis	Autoimmune hepatitis	LHGDN	17722299		★☆☆☆☆ Found in Text Mining only
Autoimmune Chronic Hepatitis	Autoimmune hepatitis	GWASCAT_DG	24768677		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	10820227, 10886238, 11073185, 11703366, 12734793, 12849055, 13130476, 16751419, 16879749, 16890892, 17182961, 17547851, 17728790, 17911430, 21816777, 22686660, 24384427, 25827949, 26884287, 30541895, 31331105, 7608264, 8547234, 8737022, 8977762, 8995182, 9027960, 9209509, 9226129		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	LHGDN	13130476		★☆☆☆☆ Found in Text Mining only
Autoimmune Syndrome Type II, Polyglandular	Polyglandular autoimmune syndrome	BEFREE	12734793, 21388354		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autoimmune thyroiditis	Autoimmune Thyroiditis	BEFREE	8288722		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bare lymphocyte syndrome 2	Bare Lymphocyte Syndrome	BEFREE	12028563		★☆☆☆☆ Found in Text Mining only
Barrett Esophagus	Barrett esophagus	BEFREE	25827949		★☆☆☆☆ Found in Text Mining only
Behcet Syndrome	Behcet Syndrome	BEFREE	1358857, 23021043, 31669406		★☆☆☆☆ Found in Text Mining only
Birdshot chorioretinopathy	Birdshot Chorioretinopathy	BEFREE	26310161		★☆☆☆☆ Found in Text Mining only
Blood Coagulation Disorders	Blood Coagulation Disorders	HPO_DG			★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	17484621, 21720852		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Brittle diabetes	Brittle diabetes mellitus	CTD_human_DG	26168013		★☆☆☆☆ Found in Text Mining only
Bullous pemphigoid	Bullous Pemphigoid	BEFREE	29248402, 29386826		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Burkitt Lymphoma	Burkitt`s Lymphoma	BEFREE	8284786		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	20061363, 29191591		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	GWASCAT_DG	28604730		★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Familial Idiopathic	Cardiomyopathy	BEFREE	12559622, 15498363, 15996167, 16225776, 16751419, 7754945		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	20141563		★☆☆☆☆ Found in Text Mining only
Cataplexy	Cataplexy	BEFREE	22259780		★☆☆☆☆ Found in Text Mining only
Celiac Disease	Celiac disease	BEFREE	10398807, 10773355, 11195230, 11208478, 11501889, 11556984, 11673490, 11703366, 11839711, 11862400, 12039527, 12050583, 12121676, 12392509, 12590980, 12651074, 12691174, 14581805, 15014431, 15120190, 15174785, 15386476, 1563982, 15781184, 1627534, 16484124, 16552815, 16567828, 17020762, 17060123, 17145374, 17438672, 17584581, 17767555, 17919990, 18076355, 18509540, 1919044, 19254257, 19255754, 19474744, 19500688, 1972714, 1980918, 20047644, 20492597, 21292306, 21694611, 22976110, 23041663, 23050549, 23085892, 23609110, 24274444, 24634124, 24876751, 25413104, 26010309, 26043316, 26301618, 26496305, 26498615, 26884287, 27083396, 28247576, 28514313, 28585303, 28606713, 2909659, 29458095, 31331105, 7558926, 7928444, 8138422, 8253354, 8362409, 8419077, 8590546, 8731659, 8803535, 8890082, 9098408, 9129973, 9243756, 9548076, 9587738, 9659975		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Celiac Disease	Celiac disease	LHGDN	12039527, 12421937, 15120190, 16878175, 16916661, 18177450		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Celiac Disease	Celiac disease	GWASCAT_DG	17558408, 20190752		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Celiac Disease	Celiac disease	GWASDB_DG	17558408, 20190752		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Celiac Disease	Celiac disease	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Celiac Disease	Celiac disease	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
cervical cancer	Cervical Cancer	BEFREE	10380373, 23482656, 24520070		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
cervical cancer	Cervical Cancer	GWASDB_DG	23482656		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical Intraepithelial Neoplasia	Cervical Intraepithelial Neoplasia	BEFREE	10380373		★☆☆☆☆ Found in Text Mining only
Cervix carcinoma	Cervix carcinoma	BEFREE	10380373, 23482656, 24520070		★☆☆☆☆ Found in Text Mining only
Cervix carcinoma	Cervix carcinoma	GWASCAT_DG	23482656, 28806749		★☆☆☆☆ Found in Text Mining only
Child Development Disorders, Pervasive	Development Disorder	GWASCAT_DG	28540026		★☆☆☆☆ Found in Text Mining only
Childhood asthma	Asthma	GWASCAT_DG	31036433		★☆☆☆☆ Found in Text Mining only
Childhood Ataxia with Central Nervous System Hypomyelinization	Leukoencephalopathy with vanishing white matter	BEFREE	25827949		★☆☆☆☆ Found in Text Mining only
Chronic kidney disease stage 5	Kidney Disease	BEFREE	11082516		★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	BEFREE	27333618, 29066732		★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	GWASDB_DG	21131588		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	GWASCAT_DG	21131588		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic sinusitis	Sinusitis	GWASCAT_DG	30643255		★☆☆☆☆ Found in Text Mining only
Cirrhosis	Cirrhosis	BEFREE	30160782		★☆☆☆☆ Found in Text Mining only
Colitis, Collagenous	Colitis	GWASCAT_DG	26525574		★☆☆☆☆ 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	9182815		★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	15498363		★☆☆☆☆ Found in Text Mining only
Craniosynostosis	Craniosynostosis	BEFREE	30657646		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	BEFREE	10323339, 31600487, 7557126		★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic Fibrosis	BEFREE	24355005, 7513888		★☆☆☆☆ Found in Text Mining only
Dental Enamel Hypoplasia	Dental Enamel Hypoplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dermatitis	Dermatitis	CTD_human_DG	16836882		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dermatitis, Allergic Contact	Dermatitis	BEFREE	2902003		★☆☆☆☆ Found in Text Mining only
Dermatitis, Atopic	Dermatitis	BEFREE	29949836		★☆☆☆☆ Found in Text Mining only
Dermatomyositis	Dermatomyositis	BEFREE	11937576, 27153935		★☆☆☆☆ Found in Text Mining only
Dermatomyositis, Childhood Type	Dermatomyositis	BEFREE	10606384, 11564368, 11937576, 15338511, 17133612, 1783570, 18240225, 28158183, 8666549, 9550430, 9598907		★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	10535450, 10570321, 10819246, 11073185, 11841488, 11845225, 15292346, 15301863, 15602651, 15603874, 20073143, 23160529, 23441825, 7729610, 8737022, 8742569, 8897007, 9353155		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	10535450, 10570321, 10819246, 11073185, 11841488, 11845225, 15112906, 15292346, 15301863, 15602651, 15603874, 20073143, 23160529, 23441825, 7729610, 8737022, 8742569, 8897007, 9353155		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus	Diabetes Mellitus	LHGDN	15112906, 16331578, 16964961		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	10078545, 10199786, 10323407, 10331157, 10408802, 10426275, 10432437, 10458327, 10496075, 10522814, 10553500, 10553503, 10600012, 10656226, 10660221, 10665665, 10677335, 10689119, 10720072, 10777104, 10819238, 10975839, 11073185, 11098934, 11195230, 11334427, 11502807, 11532022, 11703366, 11704284, 11724418, 11780465, 11869048, 11903620, 11916169, 12021129, 12021131, 12021137, 12121278, 12149602, 12445307, 12445315, 12453977, 12559622, 12595901, 12639765, 12753653, 12941542, 12974555, 1347765, 1358911, 1412411, 1429035, 14522092, 14679079, 1472636, 1477090, 1485949, 1485950, 1502499, 15164102, 15174785, 1521722, 15301863, 15336779, 1548146, 15575351, 15602651, 15660729, 15842729, 16096857, 16254435, 16424231, 16464953, 16567828, 16629714, 16731854, 1676685, 1680241, 17315139, 17560077, 17584581, 17661909, 17678725, 17911424, 17919266, 18039812, 18198357, 18694972, 18769865, 18830248, 18987644, 19055605, 1908143, 19143810, 19143811, 19143816, 19207936, 19295542, 19429597, 20073143, 20141563, 2040390, 21076979, 21388354, 21712811, 2187469, 21988721, 22583516, 2300572, 23121162, 2318983, 23398374, 23441825, 23666211, 23801574, 2494458, 25405480, 25661663, 2573591, 26095634, 26492519, 26822082, 26854762, 26866570, 2687162, 28247576, 28808665, 28834219, 29066732, 29088299, 29224923, 30626607, 31331105, 31675055, 31742498, 3240836, 7576003, 7589884, 7608264, 7729610, 7817375, 7859639, 7903490, 7903628, 7911550, 7914753, 7949227, 7988304, 8002038, 8175975, 8183282, 8200980, 8226139, 8270130, 8317480, 8462775, 8547234, 8597561, 8722074, 8773316, 8773324, 8820406, 8830330, 8864169, 8929711, 8971543, 8977762, 9042931, 9042932, 9206083, 9209509, 9226129, 9243758, 9250458, 9453285, 9458118, 9498778, 9511982, 9684995, 9727063, 9777326, 9796741, 9834137, 9864037, 9885897		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	LHGDN	12021129, 12021143		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	GWASCAT_DG	17554300, 18978792		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	GWASDB_DG	17554300, 17632545, 18978792		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	CTD_human_DG	26168013		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus, Ketosis-Prone	Diabetes Mellitus	CTD_human_DG	26168013		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	10323407, 11082516, 12941548, 15602651, 8742569, 9015668		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus, Sudden-Onset	Diabetes Mellitus	CTD_human_DG	26168013		★☆☆☆☆ Found in Text Mining only
Diabetes, Autoimmune	Autoimmune Diabetes	BEFREE	11502807, 31457096		★☆☆☆☆ Found in Text Mining only
Diabetes, Autoimmune	Autoimmune Diabetes	CTD_human_DG	26168013		★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathy	Diabetic Nephropathy	BEFREE	18039812, 30806329		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diffuse Large B-Cell Lymphoma	Diffuse Lymphoma	BEFREE	12756506		★☆☆☆☆ Found in Text Mining only
Diffuse Scleroderma	Scleroderma	BEFREE	11014350		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Disorder of eye	Disorder Of Eye	BEFREE	1625093		★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down Syndrome	BEFREE	8890082		★☆☆☆☆ Found in Text Mining only
Duodenal Ulcer	Duodenal Ulcer	BEFREE	11782575, 8574742, 8775009		★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Eclampsia	Eclampsia	BEFREE	27121092		★☆☆☆☆ Found in Text Mining only
Eczema	Eczema	BEFREE	29949836		★☆☆☆☆ Found in Text Mining only
Eczema	Eczema	HPO_DG			★☆☆☆☆ Found in Text Mining only
Eosinophilia-Myalgia Syndrome	Eosinophilia	BEFREE	19790128		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Eosinophilia-Myalgia Syndrome	Eosinophilia	CTD_human_DG	19790128		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Eosinophilia-Myalgia Syndrome, L-Tryptophan-Related	Eosinophilia	CTD_human_DG	19790128		★☆☆☆☆ Found in Text Mining only
Esophageal Achalasia	Achalasia	BEFREE	11837716, 24997987		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Esophageal Achalasia	Achalasia	ORPHANET_DG	24997987		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Esophageal Achalasia	Achalasia	CTD_human_DG	24997987		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Esophageal carcinoma	Esophageal Carcinoma	BEFREE	30813145		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophagus Neoplasm	BEFREE	30813145		★☆☆☆☆ Found in Text Mining only
Essential Hypertension	Hypertension	BEFREE	10653144		★☆☆☆☆ Found in Text Mining only
Fatty Liver Disease	Fatty Liver	BEFREE	31393374		★☆☆☆☆ Found in Text Mining only
Focal glomerulosclerosis	Glomerulosclerosis	BEFREE	27333618		★☆☆☆☆ Found in Text Mining only
Gastric Adenocarcinoma	Gastric Cancer	BEFREE	11972882, 8690208, 9506344		★☆☆☆☆ Found in Text Mining only
Gastritis, Atrophic	Gastritis	BEFREE	19906105, 8574742, 9506344		★☆☆☆☆ Found in Text Mining only
Giant Cell Arteritis	Giant Cell Arteritis	BEFREE	10555899, 27109359, 28277489, 9818656		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	21569485		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	21569485		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	28721485		★☆☆☆☆ Found in Text Mining only
Gluten intolerance	Gluten intolerance	BEFREE	9260799		★☆☆☆☆ Found in Text Mining only
Granulomatosis with polyangiitis	Granulomatosis With Polyangiitis	BEFREE	29066732		★☆☆☆☆ Found in Text Mining only
Graves Disease	Graves Disease	BEFREE	10468909, 10468973, 10770195, 11146462, 11263477, 11272094, 11477614, 11678832, 12734793, 15531546, 15558498, 15993720, 16254435, 16451208, 17597093, 17714036, 18449200, 23954255, 29085334, 30484670, 7608264, 7704083, 7781492, 8027232, 8288722, 8501164, 8636314, 8706297, 8875744, 8981012, 9027960, 9458117, 9561915, 9768636		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Graves Disease	Graves Disease	LHGDN	18449200		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Guillain-Barre Syndrome	Guillain-Barre Syndrome	BEFREE	11776098		★☆☆☆☆ Found in Text Mining only
Hamartoma Syndrome, Multiple	Hamartoma	BEFREE	10398807, 11862400, 20843162		★☆☆☆☆ Found in Text Mining only
Hashimoto Disease	Hashimoto Disease	BEFREE	18449200, 19254248, 23380142, 26317691, 8288722		★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	15498363		★☆☆☆☆ Found in Text Mining only
Hemoglobinuria, Paroxysmal	Paroxysmal Hemoglobinuria	LHGDN	12070003		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary pancreatitis	Hereditary Pancreatitis	BEFREE	25773770		★☆☆☆☆ Found in Text Mining only
Heymann Nephritis	Heymann Nephritis	CTD_human_DG	11436868		★☆☆☆☆ Found in Text Mining only
Hyperthyroidism	Hyperthyroidism	BEFREE	22968483		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypopigmentation disorder	Hypopigmentation Disorder	BEFREE	9328789		★☆☆☆☆ Found in Text Mining only
Hypothyroidism	Hypothyroidism	BEFREE	27109359		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Idiopathic achalasia of esophagus	Idiopathic achalasia	ORPHANET_DG	24997987		★☆☆☆☆ Found in Text Mining only
Idiopathic Inflammatory Myopathies	Inflammatory Myopathy	BEFREE	10366124, 11092196, 12124873, 13130476, 15529361, 16267409, 16609350, 17075818, 19690132		★☆☆☆☆ Found in Text Mining only
Idiopathic Membranous Glomerulonephritis	Membranous Glomerulonephritis	CTD_human_DG	11436868		★☆☆☆☆ Found in Text Mining only
Idiopathic Membranous Glomerulonephritis	Membranous Glomerulonephritis	BEFREE	21323541, 21691125, 22371247, 23194743, 23364522, 23431073, 23813219, 24262501, 2576474, 28685717, 28849274, 30349113, 30383665, 7605775		★☆☆☆☆ Found in Text Mining only
Idiopathic Nephrotic Syndrome	Nephrotic Syndrome	BEFREE	9203175		★☆☆☆☆ Found in Text Mining only
IGA Glomerulonephritis	Glomerulonephritis	BEFREE	27333618, 8821832, 8832595		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Immunoglobulin A deficiency (disorder)	Immunoglobulin A deficiency	GWASCAT_DG	27723758		★☆☆☆☆ Found in Text Mining only
Inclusion Body Myositis (disorder)	Inclusion Body Myositis	BEFREE	16267409		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	10689124, 27693347, 28449344, 29270995		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	GWASCAT_DG	28008999, 28067908		★☆☆☆☆ Found in Text Mining only
Iron deficiency anemia	Iron deficiency anemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Juvenile arthritis	Arthritis	BEFREE	10457895, 11874841, 12364641, 7652738, 7788177, 9802601		★☆☆☆☆ Found in Text Mining only
Juvenile Myoclonic Epilepsy	Myoclonic Epilepsy	BEFREE	7670762		★☆☆☆☆ Found in Text Mining only
Kaposi Sarcoma	Kaposi Sarcoma	BEFREE	31105266		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	BEFREE	18039812, 21691125, 8484697		★☆☆☆☆ Found in Text Mining only
Kidney Failure, Chronic	Kidney Failure	BEFREE	11082516		★☆☆☆☆ Found in Text Mining only
Latent Autoimmune Diabetes in Adults	Autoimmune Diabetes	BEFREE	26866570		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Leprosy	Leprosy	BEFREE	19698125, 20617178, 8284786		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Libman-Sacks Disease	Nonbacterial verrucal endocardiosis	CTD_human_DG	11436868		★☆☆☆☆ Found in Text Mining only
Lip and Oral Cavity Carcinoma	Lip and Oral Cavity Carcinoma	BEFREE	21943816		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	LHGDN	15688398		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	17845309, 25913043, 30160782, 30168489		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	GWASDB_DG	22807686, 23242368		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	GWASCAT_DG	22807686		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver Cirrhosis	BEFREE	17845309, 23321320, 30160782, 30168489		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lupus Erythematosus	Lupus Erythematosus	BEFREE	7678744		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Cutaneous	Lupus Erythematosus	GWASCAT_DG	25827949		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Discoid	Lupus Erythematosus	BEFREE	7678744		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	CTD_human_DG	11436868		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	11476905, 11699726, 11934968, 1440567, 15603875, 16142706, 2063393, 22233601, 23084292, 23257407, 23341919, 7481564, 7678744, 7728395, 7824837, 7912858, 8101832, 8340232, 8406614, 8452580, 8456439, 9709177, 9808402		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lupus Erythematosus, Systemic	Lupus Erythematosus	GWASDB_DG	18204098, 21408207, 24871463		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lupus Erythematosus, Systemic	Lupus Erythematosus	GWASCAT_DG	18204098, 21408207, 26316170, 26502338		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lupus Nephritis	Lupus Nephritis	BEFREE	12651073, 27333618		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lupus Vulgaris	Lupus Vulgaris	BEFREE	7678744		★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	12691174, 16234023		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma	Lymphoma	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma, Follicular	Lymphoma	BEFREE	21133715, 22296171, 24304973		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	17484621, 21720852		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of esophagus	Esophagus Neoplasm	BEFREE	30813145		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	GWASDB_DG	19654303, 22899653		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	20061363, 29191591		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of mouth	Malignant neoplasm of mouth	BEFREE	21943816		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of oropharynx	Malignant Neoplasm Of Oropharynx	BEFREE	27749845		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	15622476, 15691311, 27334226		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	11972882, 29656111, 9533756		★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	10380373, 23482656, 24520070		★☆☆☆☆ Found in Text Mining only
Megaesophagus	Megaesophagus	CTD_human_DG	24997987		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	12125959, 16433795, 7960221, 9550328		★☆☆☆☆ Found in Text Mining only
Membranous glomerulonephritis	Membranous Glomerulonephritis	CTD_human_DG	11436868		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Membranous glomerulonephritis	Membranous Glomerulonephritis	GWASCAT_DG	21323541, 27333618		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Membranous glomerulonephritis	Membranous Glomerulonephritis	GWASDB_DG	21323541		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Membranous glomerulonephritis	Membranous Glomerulonephritis	BEFREE	23813219, 25187357, 25401774, 26673907, 27333618, 28849274, 30467913		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mitral Valve Stenosis	Mitral Valve Stenosis	BEFREE	8782076		★☆☆☆☆ Found in Text Mining only
Mucocutaneous Lymph Node Syndrome	Kawasaki disease	BEFREE	1491403, 25809546		★☆☆☆☆ Found in Text Mining only
Mucosa-Associated Lymphoid Tissue Lymphoma	Mucosa-associated lymphoma	LHGDN	16234023		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	10328250, 10439317, 10527398, 10599893, 11018705, 11082515, 11424637, 12083953, 12149602, 1429036, 14651518, 15083289, 16218914, 17329717, 17489940, 17547851, 18726686, 19299434, 19380721, 19585166, 2001977, 25911099, 25992516, 29683085, 30836273, 31573825, 7605774, 7761978, 7797622, 7909591, 8081940, 8157738, 8442703, 8450999, 8780100, 9328791, 9333267, 9345451, 9668164, 9777330		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Multiple Sclerosis	Multiple Sclerosis	LHGDN	17329717, 17489940		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Multiple Sclerosis	Multiple Sclerosis	GWASDB_DG	17660530, 20453840		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Multiple Sclerosis	Multiple Sclerosis	GWASCAT_DG	20453840, 27386562		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Multiple Sclerosis, Relapsing-Remitting	Multiple Sclerosis	BEFREE	7797612, 9104579		★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy, Duchenne	Duchenne Muscular Dystrophy	BEFREE	11937576		★☆☆☆☆ Found in Text Mining only
Myasthenia Gravis	Myasthenia Gravis	BEFREE	14700596, 15003812, 16720217, 21917268, 22503410, 26671138, 8508049, 8882423, 9237805, 9574516		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myasthenia Gravis	Myasthenia Gravis	LHGDN	16720217		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myasthenia Gravis	Myasthenia Gravis	GWASDB_DG	23055271		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myasthenia Gravis, Ocular	Myasthenia Gravis	BEFREE	22503410, 28119492		★☆☆☆☆ Found in Text Mining only
Myocarditis	Myocarditis	BEFREE	16751419		★☆☆☆☆ Found in Text Mining only
Myositis	Myositis	BEFREE	10366124, 16609350, 17075818, 18930994, 8814062, 9214426		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOTONIC DYSTROPHY 1	Myotonic dystrophy	BEFREE	12948297		★☆☆☆☆ Found in Text Mining only
Narcolepsy	Narcolepsy	BEFREE	12097985, 1455124, 22259780, 22862152, 25277311, 25325462, 28108192, 7701202, 9151385, 9459509, 9534039, 9582188		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Narcolepsy	Narcolepsy	GWASDB_DG	19629137		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nasal Polyps	Nasal polyposis	BEFREE	10718431, 16890076		★☆☆☆☆ Found in Text Mining only
Nasal Polyps	Nasal polyposis	GWASCAT_DG	30643255		★☆☆☆☆ Found in Text Mining only
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	BEFREE	18535809		★☆☆☆☆ Found in Text Mining only
Necrotizing myopathy	Necrotizing myopathy	BEFREE	11937576		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	12125959, 12756506, 30813145, 8000298, 8945607, 9533756, 9550328		★☆☆☆☆ Found in Text Mining only
Nephritis	Nephritis	BEFREE	12651073		★☆☆☆☆ Found in Text Mining only
Nephritis, Interstitial	Nephritis	LHGDN	19154326		★☆☆☆☆ Found in Text Mining only
Nephritis, Interstitial	Nephritis	BEFREE	23594347		★☆☆☆☆ Found in Text Mining only
Nephritis, Tubulointerstitial	Nephritis	BEFREE	23594347		★☆☆☆☆ Found in Text Mining only
Nephroblastoma	Nephroblastoma	BEFREE	12070003		★☆☆☆☆ Found in Text Mining only
Nephrotic Syndrome	Nephrotic Syndrome	BEFREE	30006974		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nephrotic Syndrome, Minimal Change	Nephrotic Syndrome	BEFREE	9203175		★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	9459509		★☆☆☆☆ Found in Text Mining only
Neuromyelitis Optica	Neuromyelitis Optica	BEFREE	19299434, 31382992		★☆☆☆☆ Found in Text Mining only
NON RARE IN EUROPE: Celiac disease	Celiac disease	Orphanet			★☆☆☆☆ Found in Text Mining only
NON RARE IN EUROPE: Diabetes mellitus type 1	Diabetes Mellitus	Orphanet			★☆☆☆☆ Found in Text Mining only
Non-alcoholic Fatty Liver Disease	Non-Alcoholic Fatty Liver Disease	BEFREE	31393374		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Oligoarticular Juvenile Idiopathic Arthritis	Oligoarticular Arthritis	BEFREE	15703957, 19811310		★☆☆☆☆ Found in Text Mining only
Oligospermia	Oligospermia	BEFREE	31002754		★☆☆☆☆ Found in Text Mining only
Optic Neuritis	Optic Neuritis	BEFREE	9006417		★☆☆☆☆ Found in Text Mining only
Oropharyngeal Carcinoma	Oropharyngeal Carcinoma	BEFREE	27749845		★☆☆☆☆ Found in Text Mining only
Oropharyngeal Carcinoma	Oropharyngeal Carcinoma	CTD_human_DG	27749845		★☆☆☆☆ Found in Text Mining only
Oropharyngeal Neoplasms	Oropharyngeal Neoplasm	CTD_human_DG	27749845		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteoporosis	Osteoporosis	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteosarcoma	Osteosarcoma	BEFREE	30038050		★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	LHGDN	15935893		★☆☆☆☆ Found in Text Mining only
Pancreatitis	Pancreatitis	BEFREE	25217962, 29270995		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pancreatitis	Pancreatitis	CTD_human_DG	25217962		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pancytopenia	Pancytopenia	BEFREE	7994040		★☆☆☆☆ Found in Text Mining only
Paroxysmal nocturnal hemoglobinuria	Paroxysmal nocturnal hemoglobinuria	BEFREE	12070003		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pemphigus	Pemphigus	LHGDN	15863864		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pemphigus	Pemphigus	BEFREE	29237064, 9873173		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pemphigus Foliaceus	Pemphigus Foliaceus	BEFREE	27178774		★☆☆☆☆ Found in Text Mining only
Pemphigus Vulgaris	Pemphigus Vulgaris	BEFREE	18780165, 27178774, 7871526, 9008308, 9008309, 9438202		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Polyarthritis	Polyarthritis	BEFREE	9027967		★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic Ovary Syndrome	BEFREE	1471701		★☆☆☆☆ Found in Text Mining only
Polyendocrinopathies, Autoimmune	Autoimmune Polyendocrinopathy	BEFREE	11157139, 21388354, 24187405		★☆☆☆☆ Found in Text Mining only
Polyglandular Type III Autoimmune Syndrome	Polyglandular autoimmune syndrome	BEFREE	16254435		★☆☆☆☆ Found in Text Mining only
Polymyositis	Polymyositis	BEFREE	11972875, 16267409, 8814062		★☆☆☆☆ Found in Text Mining only
Polyneuropathy	Polyneuropathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Post-Traumatic Stress Disorder	Stress Disorder	BEFREE	31310798		★☆☆☆☆ Found in Text Mining only
Precursor Cell Lymphoblastic Leukemia Lymphoma	Lymphoblastic Leukemia	BEFREE	28596278		★☆☆☆☆ Found in Text Mining only
Primary biliary cirrhosis	Biliary Cirrhosis	BEFREE	15713222, 1735557, 7699227		★☆☆☆☆ Found in Text Mining only
Primary Ciliary Dyskinesia	Ciliary dyskinesia	BEFREE	29306402		★☆☆☆☆ Found in Text Mining only
Primary sclerosing cholangitis	Sclerosing Cholangitis	BEFREE	10068102, 11454808, 14567462, 9731555		★☆☆☆☆ Found in Text Mining only
Pseudohyperkalemia Cardiff	Pseudohyperkalemia Cardiff	BEFREE	16938647, 23321320		★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	BEFREE	10651991, 12653713, 15009387, 15245541, 15346196, 8002377, 8618009, 8818183, 8932582, 9820604		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Psoriasis	Psoriasis	LHGDN	15346196, 15908298		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Psoriasis vulgaris	Psoriasis vulgaris	BEFREE	15009387, 15245541, 8818183, 8932582, 9248614, 9990359		★☆☆☆☆ Found in Text Mining only
Recurrent aphthous ulcer	Aphthous Ulcer	HPO_DG			★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal Diseases	BEFREE	15019597, 8932997		★☆☆☆☆ Found in Text Mining only
Rheumatic Heart Disease	Rheumatic Heart Disease	BEFREE	10351973, 14602216, 17673320, 29029143		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	10674968, 11163080, 11197302, 11229460, 11334677, 11482129, 11874840, 1429034, 1686751, 20141563, 2095004, 23951149, 25550865, 26524976, 8484697, 8551230, 8671664, 9150071, 9157087, 9694353, 9799335		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Rheumatoid Arthritis	Rheumatoid arthritis	GWASDB_DG	17804836, 19503088, 21156761, 21653640		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Rheumatoid Arthritis	Rheumatoid arthritis	GWASCAT_DG	26272072		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Rickets	Rickets	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sarcoidosis	Sarcoidosis	BEFREE	17662590, 18038917, 8085259, 9130059		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoidosis	Sarcoidosis	LHGDN	17662590		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoidosis	Sarcoidosis	GWASDB_DG	22952805		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoidosis	Sarcoidosis	GWASCAT_DG	26651848		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	GWASCAT_DG	19571809, 28540026		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	GWASDB_DG	19571809, 21926974		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	BEFREE	31175266, 31425724		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Scleroderma	Scleroderma	BEFREE	10082433, 18003662		★☆☆☆☆ Found in Text Mining only
Selective immunoglobulin A deficiency	Selective Immunoglobulin A Deficiency	GWASCAT_DG	27723758		★☆☆☆☆ Found in Text Mining only
Skin Erosion	Skin Erosion	BEFREE	11482129		★☆☆☆☆ Found in Text Mining only
Small Lymphocytic Lymphoma	Lymphocytic Leukemia	GWASCAT_DG	21131588		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	GWASCAT_DG	26829030		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	24595008, 30813145		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of lung	Lung carcinoma	BEFREE	21623257		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of lung	Lung carcinoma	GWASCAT_DG	28604730		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of skin	Skin carcinoma	BEFREE	29754218		★☆☆☆☆ Found in Text Mining only
Steroid resistant nephrotic syndrome of childhood	Steroid resistant nephrotic syndrome	BEFREE	29277510		★☆☆☆☆ Found in Text Mining only
Steroid-sensitive nephrotic syndrome	Steroid-Sensitive Nephrotic Syndrome	BEFREE	25349203, 27470160, 29277510, 30568185		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	15622476, 15691311, 27334226		★☆☆☆☆ Found in Text Mining only
Stomatitis	Stomatitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
SVEINSSON CHORIORETINAL ATROPHY	Sveinsson Chorioretinal Atrophy	BEFREE	16231148		★☆☆☆☆ Found in Text Mining only
Systemic onset juvenile chronic arthritis	Arthritis	BEFREE	26598658		★☆☆☆☆ Found in Text Mining only
Systemic Scleroderma	Scleroderma	BEFREE	10082433, 11014350, 13130476, 15572392, 18003662, 19596691, 27036383, 27214100		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Takayasu Arteritis	Takayasu Arteritis	BEFREE	1350869, 25636572, 28277489, 28449344		★☆☆☆☆ Found in Text Mining only
Thrombocytosis	Thrombocytosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Thymoma	Thymoma	BEFREE	10370374, 21108743, 21917268, 7749041		★☆☆☆☆ Found in Text Mining only
Thymus Hyperplasia	Thymus Hyperplasia	BEFREE	10370374, 14700596, 8964894		★☆☆☆☆ Found in Text Mining only
Thyroiditis	Thyroiditis	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyrotoxic periodic paralysis	Thyrotoxic Periodic Paralysis	BEFREE	8306482		★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	BEFREE	10323339, 9182881		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ulcerative Colitis	Ulcerative colitis	GWASDB_DG	23128233		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ulcerative Colitis	Ulcerative colitis	GWASCAT_DG	23128233, 28067908		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveitis	Uveitis	BEFREE	10340790		★☆☆☆☆ Found in Text Mining only
Uveitis	Uveitis	LHGDN	19154326		★☆☆☆☆ Found in Text Mining only
Uveitis, Posterior	Uveitis	BEFREE	27609017		★☆☆☆☆ Found in Text Mining only
Uveomeningoencephalitic Syndrome	Uveomeningoencephalitic Syndrome	BEFREE	10682969, 11222331, 25108386, 29443768, 7928186		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Vasculitis	Vasculitis	BEFREE	9150071		★☆☆☆☆ Found in Text Mining only
Vitiligo	Vitiligo	BEFREE	12734793, 16409268, 16922942		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Vitiligo	Vitiligo	GWASDB_DG	20526339		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (finding)	Vitiligo-associated SYSTEMIC LUPUS ERYTHEMATOSUS	BEFREE	12734793, 16409268, 16922942		★☆☆☆☆ Found in Text Mining only