Table 4. HLA associated diseases and phenotypes

Phenotype or Disease Disease Class
Gene symbol
acute anterior uveitis IMMUNE/OCULAR
HLA-B27, MICA
acute graft-versus-host disease (GVHD) IMMUNE/TRANSPLANTATION
HLA
alopecia areata (AA) IMMUNE/DERMATOLOGY
NOTCH4
alpha 1-antitrypsin deficiency RESPIRATORY
HLA
alveolar echinococcosis (AE) INFECTION/PARASITOSIS
HLA-DRB1
Alzheimer's disease NEURODEGENERATIVE
HLA-A2, -DRB1
Ankylosing spondylitis (AS) IMMUNE/RHEUMATOLOGY
HLA-B27, TNF
aortoarteritis VASCULAR
HLA-DRB1
Asthma IMMUNE/RESPIRATORY
HLA-DRB1, -DQB1, -DPB1
Asthma. total IgE IMMUNE/RESPIRATORY
HLA-DR2, -DR4, -DR7
Atopy IMMUNE
HLA-DR4, -DR7, -DQB1, -DRB1
autism PSYCH
HLA-DRB1
autoimmune hepatitis IMMUNE
HLA-DRB1
autoimmune pancreatitis IMMUNE
HLA class II
autologous mixed lymphocyte reaction IMMUNE
HLA-DR
Behcet's disease IMMUNE/OCULAR
HLA-B51, MICA
bone marrow transplant IMMUNE/METABOLIC
HLA-DPB1
cardiac sarcoidosis CARDIOVASCULAR
HLA-DQB1
celiac disease IMMUNE/GASTROINTESTINAL
HLA class II, HSPA1A
cervical cancer CANCER/GYNECOLOGY
HLA class II
cervical intraepithelial neoplasia (CIN) INFECTION/GYNECOLOGY
HLA DQB1
childhood acute lymphoblastic leukemia (ALL) CANCER
HLA-DR
Childhood Diabetes METABOLIC/ENDOCRINE
HLA
chronic hepatitis C INFECTION/LIVER
HLA class II
complement C4 complotypes IMMUNE
HLA-B17
congenital adrenal hyperplasia (CAH) METABOLIC
CYP21
Crohn's disease IMMUNE/GASTROINTESTINAL
HLA-DRB1, TNF
cyclosporine-dependent aplastic anemia (CyA-dependent AA) IMMUNE/HAEMATOLOGY
HLA class II
defective DR beta 4 chain expression to the HLA-DRB1 gene IMMUNE
HLA-DRB1
delayed sleep phase syndrome (DSPS) PSYCH/NEUROLOGICAL
HLA-DR1
dermatomyositis/ polymyositis (DM/PM) IMMUNE/MUSCLE/DERMATOLOGY
HLA-DQB1
dystrophic epidermolysis bullosa (RDEB) DERMATOLOGY
HLA
endometriosis GYNECOLOGY/FERTILITY
HLA-DQA1, -DPB1
Familial juvenile onset psoriasis IMMUNE
HLA class I
gastric adenocarcinoma CANCER
HLA-DQB1
giant cell arteritis (GCA) VASCULAR/RHEUMATOLOGY
HLA-DR4
Graves disease (GD) IMMUNE/ENDOCRINE
HLA-DRB1, -DQA1
Hashimoto's thyroiditis IMMUNE/ENDOCRINE
HLA-A2
High serum IgE concentrations IMMUNE
HLA-DRB1*01
HIV-related disease IMMUNE/INFECTION
HLA-DR, -DQ
HLA-DQA1 differential expression IMMUNE
HLADQA1
Host defense and inflammatory IMMUNE
HLA
human T-cell lymphotropic virus type I associated myelopathy (HAM) IMMUNE
HLA-DRB1, TNF
hypertrophic cardiomyopathy CARDIOVASCULAR
HLA
idiopathic progressive sensorineural hearing loss (PSHL) AUDITORY
HLA class II
IgA deficiency IMMUNE
HLA-A28, -B14
IgA deficiency and common variable immunodeficiency IMMUNE
HLA-DQB1
IgA nephropathy (IgAN) IMMUNE/UROLOGY
C4
immotile cilia syndrome (ICS) RESPIRATORY
HLA
immune response to hepatitis B (HBV) IMMUNE/INFECTION
HLA-DRB1
increased cutaneous melanoma risk SKIN CANCER
HLA-DQB1
increased prevalence and level of insulin autoantibodies IMMUNE/ENDOCRINE
HLA-DR4
Inflammatory Bowel Disease (IBD) IMMUNE/GASTROINTESTINAL
HLA-DPA1
juvenile ankylosing spondylitis (JAS) IMMUNE/RHEUMATOLOGY
HLA class II
juvenile dermatomyositis (JDMS) IMMUNE/VASCULAR/MUSCLE/SKIN
HLA-DQA1
juvenile multiple sclerosis (JMS) NEURODEGENERATIVE
HLA-DR2
Juvenile myoclonic epilepsy (JME) NEURODEGENERATIVE
HLA-DRw6
Latex allergy IMMUNE
HLA-DR4
leprosy phenotypes IMMUNE/INFECTION
HLA class II, TNF
low responsiveness to hepatitis B vaccine IMMUNE/INFECTION
HLA-DR14-DR52
marrow graft rejection IMMUNE/TRANSPLANTATION
HLA
mediterranean visceral leishmaniasis (MVL) INFECTION/PARASITOLOGY/IMMUNE
HLA-class II, class III
minimal change nephrotic syndrome RENAL/UROLOGIC
HLA-DRw8 and DQw3
mixed cryoglobulinemia (MC) IMMUNE
HLA-DR
Mite-sensitive asthma IMMUNE
HLA class II
multiple myeloma CANCER
HLA
multiple sclerosis (MS) IMMUNE
TNF
myasthenia gravis (MG) IMMUNE
HLA class II
nasopharyngeal carcinoma CANCER
HLA
narcolepsy NEUROLOGICAL
HLA class II
nonfamilial idiopathic dilated cardiomyopathy (IDC) CARDIOVASCULAR
HLA-DRB1
nonresponsiveness to mellitin: a component of bee venom IMMUNE
HLA class II
ocular cicatricial pemphigoid (OCP) IMMUNE/ORAL/OCULAR
HLA-DR4
pathological myopia (PM) OCULAR
HLA-DPB1
pemphigus vulgaris IMMUNE/DERMATOLOGY
HLA DQ beta
periodontitis IMMUNE
HLA
Pigeon breeder's lung IMMUNE
HLA-DR3
pre-eclampsia HYPERTENSION/CARDIOVASCULAR
HLA-G
primary IgA nephropathy IMMUNE/RENAL
HLA-DQ
primary biliary cirrhosis (PBC) CHOLESTATIC LIVER DISEASE
HLA-DPB1
primary sclerosing cholangitis BILE DUCT/LIVER
HLA-B8
prostate cancer CANCER
HLA-A
psoriatic arthritis (PsA) IMMUNE/DERMATOLOGY/RHEUMATOID
HLA-B/C, MICA
pulmonary tuberculosis (PTB) INFECTION/RESPIRATORY
HLA-DRB1
recurrent oral ulcers (ROU) ORAL
HLA-DR3 or DR7
rheumatoid arthritis (RA) IMMUNE/RHEUMATOLOGY
HLA-DRB1, TNF
schistosomal worm antigen INFECTION
HLA-Dw12
schizophrenia PSYCH
HLA
Semple rabies vaccine-induced autoimmune encephalomyelitis (SAE) IMMUNE/VACCINATION
HLA class II
serum testosterone level METABOLIC/ENDOCRINE
HLA
Specific IgE IMMUNE
HLA-DRB3
skin prick test (house dust mite) IMMUNE
HLA-DRB1
skin prick test (cockroach) IMMUNE
HLA-DRB1, -DQB1
sudden infant death (SID) C ARDIOVASCULAR
C4?
susceptibility or resistance to immunodeficiency virus type 1 infection IMMUNE/INFECTION
HLA class I
Systemic lupus erythematosus (SLE) IMMUNE/RHEUMATOID
HLA class II
systemic scleroderma IMMUNE/DERMATOLOGY/RHEUMATOID
HLA
systemic sclerosis (SSc) IMMUNE
HLA class II
Takayasu arteritis CARDIOVASCULAR
HLA-DRB1
thyroid carcinoma CANCER/ENDOCRINE
HLA-DR1
Total IgE IMMUNE
HLA-DRB1, -DQB1
Tuberculosis (TB) INFECTION/RESPIRATORY
HLA-DQB1
Type 1 diabates melitus (IDDM) IMMUNE/ENDOCRINE/METABOLIC
HLA-DRB1, TNF
Type2 diabetes mellitus IMMUNE/ENDOCRINE/METABOLIC
HLA class II
ulcerative colitis (UC) IMMUNE
MICA
viral clearance INFECTION/IMMUNE
HLA-DR13
Vogt-Koyanagi-Harada syndrome (VKH) IMMUNE/OCULAR
HLA-DR4
young-onset keratoconus OCULAR
HLA
X-linked adrenoleukodystrophy (X-ALD) METABOLIC
HLA-DRB1
Source of diseases associations was "Genetic Association Database" using the keyword "HLA" at http://geneticassociationdb.nih.gov/cgi-bin/index.cgi