chr6:30489509:> Detail (hg38)

Information

Genome

Assembly Position
hg19 chr6:30,457,286-30,461,971 
hg38 chr6:30,489,509-30,494,194

HGVS

Type Transcript Protein
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

[No Data.]

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.004 renal cell carcinoma NA BeFree Detail
0.002 squamous cell carcinoma NA BeFree Detail
<0.001 Carcinoma, Transitional Cell NA BeFree Detail
<0.001 Cardiomyopathy, Dilated Repression of CELF-mediated splicing activity via expression of a nuclear domina... BeFree 25894229 Detail
0.001 hypertrophic cardiomyopathy NA BeFree Detail
<0.001 Cardiovascular Diseases NA BeFree Detail
0.004 hepatitis B Four SNPs (rs17875380, rs41557518, rs114465251, and rs115492845) were associated... BeFree 22015712 Detail
0.007 celiac disease NA BeFree Detail
0.001 Malignant tumor of cervix NA BeFree Detail
0.002 Primary biliary cirrhosis NA BeFree Detail
<0.001 Cholangitis, Sclerosing NA BeFree Detail
0.002 chorioamnionitis NA GAD Detail
<0.001 choriocarcinoma NA BeFree Detail
<0.001 hemophilia B NA BeFree Detail
0.002 ulcerative colitis NA BeFree Detail
<0.001 Colonic Neoplasms NA BeFree Detail
0.004 colorectal carcinoma Kaplan-Meier analysis results showed that the expression levels of HLA-G or HLA-... BeFree 25461612 Detail
<0.001 Colorectal Neoplasms NA BeFree Detail
0.002 common variable immunodeficiency A strong trend of association was also seen for 38 SNPs (P < 5 × 10(-5)) in the ... BeFree 25678086 Detail
0.003 coronary aneurysm NA BeFree,GAD Detail
<0.001 cowpox NA BeFree Detail
0.002 Crohn Disease NA BeFree Detail
<0.001 cystic fibrosis MHC class II transcripts were reduced in CF with a sevenfold decrease in HLA-DQβ... BeFree 25146850 Detail
0.001 Cytomegalovirus Infections Cytotoxic T-lymphocyte antigen 4 gene polymorphism influences the incidence of s... BeFree 25356901 Detail
<0.001 Demyelinating Diseases NA BeFree Detail
<0.001 dental caries NA BeFree Detail
<0.001 Mental Depression NA BeFree Detail
<0.001 depressive disorder NA BeFree Detail
<0.001 dermatitis herpetiformis NA BeFree Detail
<0.001 Dermatitis, Atopic NA BeFree Detail
<0.001 contact dermatitis NA BeFree Detail
<0.001 dermatomyositis NA BeFree Detail
0.001 scleroderma NA BeFree Detail
0.009 Diabetes Here we studied MHC class II expression on beta cells in nonobese diabetic mice ... BeFree 25959978 Detail
0.009 Diabetes We demonstrate significant power in International Genetics & Translational Resea... BeFree 26479416 Detail
0.009 diabetes mellitus Here we studied MHC class II expression on beta cells in nonobese diabetic mice ... BeFree 25959978 Detail
0.009 diabetes mellitus We demonstrate significant power in International Genetics & Translational Resea... BeFree 26479416 Detail
0.029 Diabetes Mellitus, Insulin-Dependent Susceptibility to type 1 diabetes (T1D) is strongly associated with MHC class II... BeFree 25405480 Detail
0.029 Diabetes Mellitus, Insulin-Dependent Insulin is a major autoantigen in T1D, but how its peptides are presented to CD4... BeFree 25831495 Detail
0.029 Diabetes Mellitus, Insulin-Dependent Our study indicates that MHC class II molecules may play an important role in be... BeFree 25959978 Detail
0.002 Diabetes Mellitus, Non-Insulin-Dependent NA BeFree Detail
<0.001 Muscular Dystrophy, Duchenne NA BeFree Detail
<0.001 Eczema NA BeFree Detail
0.004 Experimental Autoimmune Encephalomyelitis NA BeFree Detail
<0.001 Toxic Epidermal Necrolysis NA BeFree Detail
<0.001 Erysipelothrix infection NA BeFree Detail
<0.001 Exanthema NA BeFree Detail
<0.001 Disorder of eye NA BeFree Detail
<0.001 Fatigue NA BeFree Detail
0.002 Fetal Membranes, Premature Rupture NA GAD Detail
<0.001 fibrosarcoma NA BeFree Detail
<0.001 Gingival Diseases NA BeFree Detail
0.001 glioblastoma NA BeFree Detail
0.002 Glioma In situ PLA showed that the IDH1R132H epitope colocalizes with MHC class II in I... BeFree 25555220 Detail
<0.001 glomerulonephritis NA BeFree Detail
0.001 IgA glomerulonephritis NA BeFree Detail
<0.001 goiter NA BeFree Detail
0.012 Graft-vs-Host Disease HLA-E*0103/E*0103 genotype is associated with lower risk of graft-versus-host di... BeFree,GAD,LHGDN 25420801 Detail
<0.001 chronic granulomatous disease NA BeFree Detail
0.005 Graves Disease NA BeFree Detail
<0.001 Hay fever NA BeFree Detail
<0.001 Heart failure NA BeFree Detail
0.001 congestive heart failure NA BeFree Detail
<0.001 Helminthiasis NA BeFree Detail
<0.001 Hematological Disease NA BeFree Detail
0.002 hemochromatosis NA BeFree Detail
<0.001 Hemophilia A NA BeFree Detail
<0.001 hepatitis NA BeFree Detail
<0.001 hepatitis A NA BeFree Detail
0.004 hepatitis B NA BeFree Detail
<0.001 Hepatitis, Chronic NA BeFree Detail
0.002 hepatitis C NA BeFree Detail
0.001 Herpes Simplex Infections NA BeFree Detail
<0.001 Herpesviridae Infections NA BeFree Detail
<0.001 Malignant histiocytosis NA BeFree Detail
<0.001 Hodgkin Disease NA BeFree Detail
<0.001 hyperinsulinism NA BeFree Detail
<0.001 hypothyroidism NA BeFree Detail
0.002 Immunologic Deficiency Syndromes NA BeFree Detail
<0.001 Immune System Diseases NA BeFree Detail
0.001 Inflammatory Bowel Diseases NA BeFree Detail
0.002 influenza Efficient vaccine against pandemic influenza: combining DNA vaccination and targ... BeFree 25818107 Detail
<0.001 iridocyclitis NA BeFree Detail
0.001 arthropathy NA BeFree Detail
<0.001 Kidney Failure, Chronic NA BeFree Detail
0.002 Premature Obstetric Labor NA GAD Detail
<0.001 leishmaniasis NA BeFree Detail
0.001 leprosy NA BeFree Detail
0.003 leukemia NA BeFree Detail
0.001 chronic lymphocytic leukemia NA BeFree Detail
<0.001 Acute lymphocytic leukemia NA BeFree Detail
<0.001 Leukemia, Myelocytic, Acute NA BeFree Detail
<0.001 myeloid leukemia NA BeFree Detail
0.001 Myeloid Leukemia, Chronic NA BeFree Detail
<0.001 acute promyelocytic leukemia NA BeFree Detail
<0.001 Leukemia, T-Cell NA BeFree Detail
0.001 Adult T-Cell Lymphoma/Leukemia Our results suggest that therapeutic approaches using combined targeting of STAT... BeFree 26025667 Detail
<0.001 lichen planus NA BeFree Detail
<0.001 listeriosis NA BeFree Detail
<0.001 Liver neoplasms NA BeFree Detail
<0.001 Chronic Obstructive Airway Disease NA BeFree Detail
0.002 Lupus Vulgaris NA BeFree Detail
0.002 Lupus Erythematosus, Discoid NA BeFree Detail
0.021 Lupus Erythematosus, Systemic On the basis of these findings, we propose that factors enabling a β2GPI-reactiv... BeFree,GAD 25555913 Detail
0.021 Lupus Erythematosus, Systemic Among them there are a number of pSS associated gene polymorphisms including the... BeFree,GAD 26320362 Detail
<0.001 lupus nephritis NA BeFree Detail
0.003 lymphoma NA BeFree Detail
<0.001 reticulosarcoma NA BeFree Detail
<0.001 lymphopenia NA BeFree Detail
0.002 malaria NA BeFree Detail
<0.001 Malaria, Falciparum NA BeFree Detail
0.001 Malignant neoplasm of stomach We identified that the HLA-E and HLA-F in gastric cancer independently affected ... BeFree 25862890 Detail
<0.001 paroxysmal nocturnal hemoglobinuria NA BeFree Detail
<0.001 measles NA BeFree Detail
0.020 melanoma Exploration of peptides bound to MHC class I molecules in melanoma. BeFree,LHGDN 25645385 Detail
0.020 melanoma Aberrant Expression of MHC Class II in Melanoma Attracts Inflammatory Tumor-Spec... BeFree,LHGDN 26183926 Detail
<0.001 Meleda Disease NA BeFree Detail
<0.001 mitral valve insufficiency NA BeFree Detail
<0.001 mitral valve stenosis NA BeFree Detail
<0.001 Mixed Salivary Gland Tumor NA BeFree Detail
0.003 Mucocutaneous Lymph Node Syndrome NA BeFree,GAD Detail
0.002 multiple myeloma Optimal selection of natural killer cells to kill myeloma: the role of HLA-E and... BeFree 25920521 Detail
0.011 multiple sclerosis Data including and excluding Major Histocompatibility Complex (MHC) markers were... BeFree 24099750 Detail
<0.001 myopathy A mild line of MHC-CELFΔ mice that expresses a lower level of the dominant negat... BeFree 25894229 Detail
<0.001 muscular dystrophy NA BeFree Detail
0.003 myasthenia gravis NA BeFree Detail
<0.001 Mycoplasma Infections NA BeFree Detail
<0.001 myocardial infarction NA BeFree Detail
<0.001 myocarditis NA BeFree Detail
0.001 myositis NA BeFree Detail
<0.001 narcolepsy NA BeFree Detail
0.002 Neoplasm Metastasis Our results also showed that the expression of HLA-E was significantly correlate... BeFree 25461612 Detail
<0.001 nephritis NA BeFree Detail
0.003 neuroblastoma NA BeFree Detail
<0.001 obesity An MHC II-dependent activation loop between adipose tissue macrophages and CD4+ ... BeFree 25310975 Detail
<0.001 osteomyelitis NA BeFree Detail
0.001 osteosarcoma Comprehensive evaluation of the cytotoxic T-lymphocyte antigen-4 gene polymorphi... BeFree 25000484 Detail
0.001 osteosarcoma Associations between the cytotoxic T lymphocyte antigen 4 polymorphisms and risk... BeFree 25230787 Detail
<0.001 ovarian carcinoma The levels of HLA-E protein expression in SOC patients with the HLA-E*0103 allel... BeFree 25711417 Detail
<0.001 Pancreatic Neoplasm NA BeFree Detail
<0.001 pancytopenia NA BeFree Detail
<0.001 tropical spastic paraparesis NA BeFree Detail
0.120 parapsoriasis NA CTD_human Detail
<0.001 Parasitic Diseases NA BeFree Detail
<0.001 bullous pemphigoid NA BeFree Detail
<0.001 pemphigus NA BeFree Detail
<0.001 pemphigus vulgaris NA BeFree Detail
<0.001 Periodontal Diseases NA BeFree Detail
<0.001 periodontitis NA BeFree Detail
<0.001 Periodontitis, Juvenile NA BeFree Detail
0.002 pre-eclampsia NA GAD Detail
<0.001 Precancerous Conditions NA BeFree Detail
<0.001 Pregnancy Complications NA BeFree Detail
<0.001 Prostatic Neoplasms NA BeFree Detail
<0.001 Protein Deficiency NA BeFree Detail
0.008 psoriasis In addition, we show that the MHC and TNIP1 regions are significantly different ... BeFree,GAD 25481369 Detail
0.008 psoriasis Lack of association between cytotoxic T-lymphocyte antigen-4+49A/G polymorphism ... BeFree,GAD 26013045 Detail
<0.001 Psychotic Disorders Replication and cross-phenotype study based upon schizophrenia GWASs data in the... BeFree 24888570 Detail
<0.001 pulmonary fibrosis NA BeFree Detail
<0.001 Henoch-Schoenlein purpura NA BeFree Detail
<0.001 Respiratory Syncytial Virus Infections A model is therefore proposed in which the host upregulates MHC-I expression dur... BeFree 25972545 Detail
<0.001 retinal vascular occlusion NA BeFree Detail
<0.001 retinoblastoma NA BeFree Detail
<0.001 Retroviridae Infections NA BeFree Detail
<0.001 rhabdomyosarcoma NA BeFree Detail
<0.001 rheumatic heart disease NA BeFree Detail
<0.001 rosacea In addition, three HLA alleles, all MHC class II proteins, were significantly as... BeFree 25695682 Detail
0.002 sarcoidosis NA BeFree Detail
0.003 schizophrenia Replication and cross-phenotype study based upon schizophrenia GWASs data in the... BeFree 24888570 Detail
0.003 systemic scleroderma NA BeFree Detail
<0.001 Dermatologic disorders NA BeFree Detail
0.011 ankylosing spondylitis The human MHC class I protein HLA-B*27:05 is statistically associated with ankyl... BeFree,GAD 25615938 Detail
<0.001 Stevens-Johnson syndrome NA BeFree Detail
<0.001 Streptococcal Infections NA BeFree Detail
<0.001 Cerebrovascular accident However, the potential application of pMHC to human stroke is limited by the nee... BeFree 24122483 Detail
<0.001 synovial sarcoma NA BeFree Detail
<0.001 Giant Cell Arteritis NA BeFree Detail
0.001 thymoma NA BeFree Detail
<0.001 Thyroid Diseases NA BeFree Detail
0.002 thyroiditis NA BeFree Detail
<0.001 Toxoplasmosis, Congenital NA BeFree Detail
0.001 Chagas disease Taken together, our results provide evidence that the protozoan T. cruzi specifi... BeFree 24752321 Detail
0.003 tuberculosis NA BeFree Detail
0.001 Tuberculosis, Pulmonary NA BeFree Detail
<0.001 tuberous sclerosis NA BeFree Detail
<0.001 typhoid fever NA BeFree Detail
<0.001 uveitis NA BeFree Detail
<0.001 Vascular Diseases NA BeFree Detail
<0.001 vasculitis A genome-wide significant association with cryoglobulin-related vasculitis was i... BeFree 25030430 Detail
0.006 Virus Diseases HLA-C is unique among the classical MHC class I molecules for its role in the co... BeFree 25083782 Detail
0.001 vitiligo Lack of association between cytotoxic T-lymphocyte antigen-4+49A/G polymorphism ... BeFree 26013045 Detail
<0.001 B-Cell Lymphomas NA BeFree Detail
0.002 diffuse large B-cell lymphoma NA BeFree Detail
<0.001 Immunoblastic Large-Cell Lymphoma NA BeFree Detail
0.002 severe combined immunodeficiency NA BeFree Detail
<0.001 Bronchial Hyperreactivity NA BeFree Detail
0.005 gestational diabetes NA BeFree,GAD Detail
<0.001 Polyendocrinopathies, Autoimmune NA BeFree Detail
<0.001 Arthritis, Reactive NA BeFree Detail
<0.001 polymyositis NA BeFree Detail
<0.001 Pancreatitis, Chronic NA BeFree Detail
<0.001 Left Ventricular Hypertrophy NA BeFree Detail
<0.001 Squamous cell carcinoma of lung NA BeFree Detail
<0.001 Small cell carcinoma of lung NA BeFree Detail
<0.001 Primary Sj�gren's syndrome Among them there are a number of pSS associated gene polymorphisms including the... BeFree 26320362 Detail
0.002 Premature Birth NA GAD Detail
0.080 Myocardial Ischemia NA BeFree,CTD_mouse Detail
<0.001 Cutaneous Melanoma MHC class I chain-related gene a diversity in patients with cutaneous malignant ... BeFree 25838620 Detail
<0.001 hypoplastic left heart syndrome Unique to those in the D-HLHS group was increased β-MHC and decreased α-MHC prot... BeFree 24793904 Detail
0.001 Malignant neoplasm of testis NA BeFree Detail
<0.001 Secondary malignant neoplasm of lung NA BeFree Detail
<0.001 acute myocardial infarction NA BeFree Detail
<0.001 allergic asthma Infection early in life is linked to persistent wheezing and allergic asthma in ... BeFree 25972545 Detail
<0.001 Polyarthritis NA BeFree Detail
<0.001 Malnutrition NA BeFree Detail
0.002 Immunoglobulin A deficiency (disorder) NA BeFree Detail
<0.001 Liver Failure, Acute NA BeFree Detail
<0.001 MELAS syndrome NA BeFree Detail
<0.001 Aortic Aneurysm, Thoracic NA BeFree Detail
0.003 Autoimmune thyroid disease NA BeFree Detail
0.002 Tumor Progression NA BeFree Detail
0.002 Diabetes, Autoimmune NA BeFree Detail
<0.001 adenosquamous carcinoma NA BeFree Detail
<0.001 Giant Cell Tumor of Bone NA BeFree Detail
<0.001 teratocarcinoma NA BeFree Detail
<0.001 Cervical Intraepithelial Neoplasia NA BeFree Detail
<0.001 uveal melanoma NA BeFree Detail
<0.001 X-linked agammaglobulinemia NA BeFree Detail
<0.001 Chronic berylliosis NA BeFree Detail
<0.001 Adult type dermatomyositis NA BeFree Detail
<0.001 Hydrosalpinx (disease) NA BeFree Detail
<0.001 Inclusion Body Myositis (disorder) NA BeFree Detail
0.005 Cancer of Nasopharynx NA GAD Detail
<0.001 Papillary thyroid carcinoma MHC class I loss is a frequent mechanism of immune escape in papillary thyroid c... BeFree 25294906 Detail
0.002 Hepatitis, Autoimmune NA BeFree Detail
0.001 Malignant neoplasm of lung NA BeFree Detail
0.005 Bare Lymphocyte Syndrome NA BeFree Detail
<0.001 pemphigus foliaceus NA BeFree Detail
<0.001 Pemphigus and fogo selvagem NA BeFree Detail
0.001 Psoriasis vulgaris NA BeFree Detail
<0.001 Dermatomyositis, Childhood Type NA BeFree Detail
<0.001 Congenital absence of adrenal gland NA BeFree Detail
<0.001 Renal glomerular disease NA BeFree Detail
<0.001 Spastic syndrome NA BeFree Detail
<0.001 Impaired glucose tolerance Deletion of MHC II expression in macrophages led to an adipose tissue-specific d... BeFree 25310975 Detail
<0.001 Postpartum Thyroiditis NA BeFree Detail
<0.001 Congenital immunodeficiency disease NA BeFree Detail
<0.001 Severe hereditary factor VIII deficiency disease NA BeFree Detail
<0.001 Mild hereditary factor VIII deficiency disease NA BeFree Detail
<0.001 Coinfection NA BeFree Detail
<0.001 Carcinoma breast stage IV NA BeFree Detail
<0.001 Metastatic Renal Cell Cancer NA BeFree Detail
<0.001 DS Stage I Plasma Cell Myeloma NA BeFree Detail
<0.001 Metastatic melanoma Next, the first immune-activating anticytotoxic lymphocyte antigen-4 (CTLA-4) an... BeFree 25207460 Detail
<0.001 Squamous cell carcinoma of esophagus NA BeFree Detail
<0.001 cervical squamous cell carcinoma NA BeFree Detail
<0.001 Solid tumour NA BeFree Detail
<0.001 Squamous cell carcinoma of tonsil NA BeFree Detail
<0.001 Iron Overload NA BeFree Detail
0.002 cervix carcinoma NA BeFree Detail
<0.001 Tumor necrosis This study was undertaken to investigate relationships between the HLA-E gene si... BeFree 26307125 Detail
<0.001 anaplastic astrocytoma NA BeFree Detail
<0.001 histiocytic sarcoma NA BeFree Detail
<0.001 Impaired cognition NA BeFree Detail
<0.001 Iodine deficiency syndrome NA BeFree Detail
<0.001 Hypophysitis NA BeFree Detail
<0.001 Multiple malignancy NA BeFree Detail
<0.001 Nonorganic psychosis Replication and cross-phenotype study based upon schizophrenia GWASs data in the... BeFree 24888570 Detail
<0.001 Cervical intraepithelial neoplasia grade 1 NA BeFree Detail
<0.001 Helicobacter pylori (H. pylori) infection in conditions classified elsewhere and of unspecified site NA BeFree Detail
<0.001 Respiratory syncytial virus (RSV) infection in conditions classified elsewhere and of unspecified site Increased MHC-I expression may exacerbate the RSV disease condition due to immun... BeFree 25972545 Detail
<0.001 New Variant Creutzfeldt-Jakob Disease NA BeFree Detail
0.001 Malignant neoplasm of prostate NA BeFree Detail
0.004 Hereditary hemochromatosis NA BeFree Detail
<0.001 Immune thrombocytopenic purpura Lack of impact of cytotoxic T-lymphocyte antigen 4 gene exon 1 polymorphism on s... BeFree 24023266 Detail
0.001 Primary immune deficiency disorder NA BeFree Detail
<0.001 Steroid-sensitive nephrotic syndrome The finding of a MHC class II locus underlying SSNS risk suggests a major role f... BeFree 25349203 Detail
<0.001 adrenal cortical hypofunction NA BeFree Detail
<0.001 Actinic prurigo NA BeFree Detail
<0.001 Seropositive rheumatoid arthritis NA BeFree Detail
0.002 lupus erythematosus NA BeFree Detail
<0.001 Neonatal Systemic lupus erythematosus NA BeFree Detail
<0.001 Erythrokeratoderma NA BeFree Detail
0.002 combined immunodeficiency NA BeFree Detail
<0.001 Chronic active hepatitis NA BeFree Detail
<0.001 Hepatitis B, Chronic NA BeFree Detail
<0.001 Hepatitis C, Chronic NA BeFree Detail
<0.001 Hypersensitive syndrome NA BeFree Detail
<0.001 X-Linked Lymphoproliferative Disorder NA BeFree Detail
<0.001 Thyroid carcinoma To evaluate MHC class I expression on papillary thyroid cancer (PTC) and analyze... BeFree 25294906 Detail
<0.001 Oral infection NA BeFree Detail
<0.001 Malignant melanoma of eye NA BeFree Detail
0.001 primary sclerosing cholangitis NA BeFree Detail
<0.001 Factor V Leiden mutation NA BeFree Detail
<0.001 Osteosarcoma of bone NA BeFree Detail
0.002 Carcinogenesis NA BeFree Detail
<0.001 lung sarcoma NA BeFree Detail
<0.001 monocytic leukemia NA BeFree Detail
0.002 prostate carcinoma NA BeFree Detail
<0.001 toxic shock syndrome NA BeFree Detail
0.001 Hashimoto Disease NA BeFree Detail
<0.001 Complete hydatidiform mole NA BeFree Detail
0.005 breast carcinoma Here, we investigated a peptide-based vaccine, which consists of two MHC class I... BeFree 25104444 Detail
0.005 breast carcinoma The vaccines showed some efficacy in mice with sarcoma, melanoma, and breast can... BeFree 25792524 Detail
0.001 Carcinoma of lung NA BeFree Detail
<0.001 Malignant neoplasm of gastrointestinal tract NA BeFree Detail
0.004 colon carcinoma NA BeFree Detail
0.002 stomach carcinoma We identified that the HLA-E and HLA-F in gastric cancer independently affected ... BeFree 25862890 Detail
0.001 Carcinoma of bladder NA BeFree Detail
0.002 Central neuroblastoma NA BeFree Detail
<0.001 Acute anterior uveitis NA BeFree Detail
<0.001 Malignant neoplasm of kidney NA BeFree Detail
0.002 Hyperlipoproteinemia Type IIa NA BeFree Detail
<0.001 Parasitic infection NA BeFree Detail
<0.001 Scleroderma, Limited NA BeFree Detail
<0.001 Idiopathic Inflammatory Myopathies NA BeFree Detail
0.001 Inclusion Body Myopathy, Sporadic NA BeFree Detail
<0.001 Multiple Sclerosis, Relapsing-Remitting NA BeFree Detail
<0.001 Myasthenia Gravis, Autoimmune, Experimental NA BeFree Detail
<0.001 Lewy Body Disease NA BeFree Detail
<0.001 Gluten sensitivity NA BeFree Detail
<0.001 Helicobacter pylori infection NA BeFree Detail
<0.001 Carcinoma in situ of uterine cervix NA BeFree Detail
<0.001 21-hydroxylase deficiency NA BeFree Detail
<0.001 Immunodeficiency congenital NA BeFree Detail
<0.001 Invasive breast carcinoma NA BeFree Detail
0.001 Acute GVH disease HLA-E polymorphism did not affect the cumulative incidence of acute GVHD grades ... BeFree 25543014 Detail
<0.001 Chronic graft-versus-host disease NA BeFree Detail
<0.001 latent infection NA BeFree Detail
0.003 Cardiomyopathies NA BeFree Detail
<0.001 Diffuse panbronchiolitis NA BeFree Detail
<0.001 Renal cancer metastatic NA BeFree Detail
0.001 autoimmune thyroiditis NA BeFree Detail
<0.001 Myasthenias NA BeFree Detail
<0.001 Primary infection NOS NA BeFree Detail
<0.001 Alloimmunisation NA BeFree Detail
0.004 Cardiomyopathy, Hypertrophic, Familial NA BeFree Detail
0.001 Spondylarthritis Revisiting MHC genes in spondyloarthritis. BeFree 25903667 Detail
0.002 Spondylarthropathies NA BeFree Detail
0.002 Arthritis, Collagen-Induced NA BeFree Detail
<0.001 West Nile viral infection NA BeFree Detail
<0.001 Malignant neoplasm of ovary The levels of HLA-E protein expression in SOC patients with the HLA-E*0103 allel... BeFree 25711417 Detail
<0.001 Squamous cell carcinoma of the head and neck NA BeFree Detail
<0.001 diffuse scleroderma NA BeFree Detail
0.002 sarcoma NA BeFree Detail
<0.001 Lymphocytic infiltration NA BeFree Detail
<0.001 Persistent infection NA BeFree Detail
<0.001 Sporadic porphyria cutanea tarda NA BeFree Detail
<0.001 Enthesitis NA BeFree Detail
<0.001 Inflammatory disorder NA BeFree Detail
<0.001 Precursor B-cell lymphoblastic leukemia NA BeFree Detail
<0.001 Generalized vitiligo NA BeFree Detail
<0.001 Herpes simplex type 1 infection NA BeFree Detail
<0.001 autoimmune vasculitis NA BeFree Detail
<0.001 Classical Hodgkin's Lymphoma Enforced wild-type B2M expression in a cHL cell line restored MHC-I expression. BeFree 25488972 Detail
<0.001 Primary Carcinoma NA BeFree Detail
<0.001 differentiated thyroid gland carcinoma NA BeFree Detail
<0.001 Mixed Neoplasm NA BeFree Detail
<0.001 Epithelioma NA BeFree Detail
<0.001 renal carcinoma NA BeFree Detail
<0.001 Cardiomyopathy, Familial Idiopathic NA BeFree Detail
<0.001 Mammary Neoplasms NA BeFree Detail
<0.001 Primary Glioblastoma NA BeFree Detail
0.002 Tumor Immunity NA BeFree Detail
0.004 colorectal cancer Kaplan-Meier analysis results showed that the expression levels of HLA-G or HLA-... BeFree 25461612 Detail
<0.001 Latent Tuberculosis NA BeFree Detail
<0.001 Glioblastoma multiforme NA BeFree Detail
<0.001 Inflammatory polyarthritis NA BeFree Detail
<0.001 Benign Prostatic Hyperplasia NA BeFree Detail
<0.001 bone sarcoma Comprehensive evaluation of the cytotoxic T-lymphocyte antigen-4 gene polymorphi... BeFree 25000484 Detail
<0.001 bone sarcoma Associations between the cytotoxic T lymphocyte antigen 4 polymorphisms and risk... BeFree 25230787 Detail
<0.001 Idiopathic Pulmonary Fibrosis NA BeFree Detail
<0.001 MAJOR AFFECTIVE DISORDER 2 NA BeFree Detail
<0.001 Recurrent bacterial infection NA BeFree Detail
0.001 VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (finding) Lack of association between cytotoxic T-lymphocyte antigen-4+49A/G polymorphism ... BeFree 26013045 Detail
<0.001 MAJOR AFFECTIVE DISORDER 1 NA BeFree Detail
<0.001 birdshot chorioretinopathy This study further defined an extremely strong MHC risk component in BSCR, and d... BeFree 24957906 Detail
<0.001 Severe Aplastic Anemia NA BeFree Detail
<0.001 Intravenous bisphosphonates NA BeFree Detail
<0.001 coronary artery disease NA BeFree Detail
<0.001 Myocardial Failure NA BeFree Detail
<0.001 Precursor Cell Lymphoblastic Leukemia Lymphoma NA BeFree Detail
<0.001 MAJOR AFFECTIVE DISORDER 4 NA BeFree Detail
<0.001 MAJOR AFFECTIVE DISORDER 5 NA BeFree Detail
<0.001 MAJOR AFFECTIVE DISORDER 6 NA BeFree Detail
0.004 liver carcinoma NA BeFree Detail
<0.001 Chronic kidney disease stage 5 NA BeFree Detail
<0.001 ISS Stage I Plasma Cell Myeloma NA BeFree Detail
<0.001 autoimmune pancreatitis NA BeFree Detail
<0.001 myofibrillar myopathy NA BeFree Detail
<0.001 Major affective disorder 7 NA BeFree Detail
<0.001 MAJOR AFFECTIVE DISORDER 8 NA BeFree Detail
<0.001 MAJOR AFFECTIVE DISORDER 9 NA BeFree Detail
0.002 Infection of amniotic sac and membranes, unspecified, unspecified trimester, not applicable or unspecified NA GAD Detail
0.002 Immunoglobulin a deficiency 1 NA BeFree Detail
0.005 Bare lymphocyte syndrome 2 NA BeFree Detail
<0.001 Juvenile dermatomyositis NA BeFree Detail
0.003 Nasopharyngeal carcinoma There was a trend of reduced NPC risk in individuals who were homozygous for bot... BeFree 25636564 Detail
<0.001 Congenital adrenal hyperplasia due to 21 hydroxylase deficiency NA BeFree Detail
<0.001 complement component 4b deficiency NA BeFree Detail
<0.001 complement component 4a deficiency NA BeFree Detail
<0.001 plasmablastic lymphoma NA BeFree Detail
0.002 Juvenile arthritis NA BeFree Detail
<0.001 Allergic disposition NA BeFree Detail
0.008 Infection NA LHGDN Detail
<0.001 Staphylococcal toxic shock syndrome NA BeFree Detail
0.002 juvenile rheumatoid arthritis NA BeFree Detail
<0.001 Experimental Organism Basal Cell Carcinoma NA BeFree Detail
<0.001 AIDS (Disease) NA BeFree Detail
0.002 Spontaneous abortion NA GAD Detail
<0.001 Abscess NA BeFree Detail
<0.001 Addison Disease NA BeFree Detail
<0.001 adenocarcinoma NA BeFree Detail
<0.001 Adrenal gland hypofunction NA BeFree Detail
<0.001 alopecia areata NA BeFree Detail
<0.001 Anemia, Pernicious NA BeFree Detail
0.005 Anemia, Sickle Cell NA GAD,LHGDN Detail
<0.001 anthrax disease NA BeFree Detail
0.001 arteriosclerosis NA BeFree Detail
0.004 arthritis NA BeFree Detail
0.002 Arthritis, Psoriatic Significance of association of HLA-C and HLA-E with psoriatic arthritis. BeFree 25454626 Detail
0.017 rheumatoid arthritis The association to MHC class II (MHC-II) has been studied in several animal mode... BeFree 25672758 Detail
0.017 rheumatoid arthritis This study was undertaken to investigate relationships between the HLA-E gene si... BeFree 26307125 Detail
<0.001 Aspergillosis, Allergic Bronchopulmonary NA BeFree Detail
0.001 asthma NA BeFree Detail
<0.001 Astrocytoma NA BeFree Detail
0.001 atherosclerosis NA BeFree Detail
<0.001 autistic disorder NA BeFree Detail
0.029 Autoimmune Diseases A considerable number of confirmed associations with RA and other autoimmune dis... BeFree 25189266 Detail
0.029 Autoimmune Diseases Molecular mechanisms for contribution of MHC molecules to autoimmune diseases. BeFree 25216261 Detail
<0.001 Melanoma, B16 NA BeFree Detail
0.003 Bacterial Infections NA BeFree,GAD Detail
0.014 Behcet Syndrome Two recent genome-wide association studies (GWASs) of BD confirmed a strong asso... BeFree,GAD,LHGDN 25227143 Detail
0.014 Behcet Syndrome This study reinforces the notion that CCR1, KLRC4, IL12A-AS1, STAT4, and ERAP1 a... BeFree,GAD,LHGDN 26097239 Detail
<0.001 bipolar disorder These data support shared risk SNPs between SCZ and BD in the Japanese populatio... BeFree 24888570 Detail
0.001 Malignant neoplasm of urinary bladder NA BeFree Detail
<0.001 Bone neoplasms NA BeFree Detail
<0.001 Brain Neoplasms Here, we evaluated the use of an alternative approach that uses the proximity li... BeFree 25555220 Detail
0.005 Malignant neoplasm of breast Here, we investigated a peptide-based vaccine, which consists of two MHC class I... BeFree 25104444 Detail
0.005 Malignant neoplasm of breast The vaccines showed some efficacy in mice with sarcoma, melanoma, and breast can... BeFree 25792524 Detail
0.002 Malignant tumor of colon NA BeFree Detail
<0.001 Malignant neoplasm of thyroid To evaluate MHC class I expression on papillary thyroid cancer (PTC) and analyze... BeFree 25294906 Detail
0.001 Non-small cell lung carcinoma NA BeFree Detail
Annotation

Annotations

DescrptionSourceLinks
NA DisGeNET Detail
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Repression of CELF-mediated splicing activity via expression of a nuclear dominant negative CELF pro... DisGeNET Detail
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Four SNPs (rs17875380, rs41557518, rs114465251, and rs115492845) were associated with altered suscep... DisGeNET Detail
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Kaplan-Meier analysis results showed that the expression levels of HLA-G or HLA-E alone and the comb... DisGeNET Detail
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A strong trend of association was also seen for 38 SNPs (P < 5 × 10(-5)) in the MHC region, supporti... DisGeNET Detail
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MHC class II transcripts were reduced in CF with a sevenfold decrease in HLA-DQβ1 for CF-DQ(group2) ... DisGeNET Detail
Cytotoxic T-lymphocyte antigen 4 gene polymorphism influences the incidence of symptomatic human cyt... DisGeNET Detail
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Here we studied MHC class II expression on beta cells in nonobese diabetic mice that were induced to... DisGeNET Detail
We demonstrate significant power in International Genetics & Translational Research in Transplantati... DisGeNET Detail
Here we studied MHC class II expression on beta cells in nonobese diabetic mice that were induced to... DisGeNET Detail
We demonstrate significant power in International Genetics & Translational Research in Transplantati... DisGeNET Detail
Susceptibility to type 1 diabetes (T1D) is strongly associated with MHC class II molecules, particul... DisGeNET Detail
Insulin is a major autoantigen in T1D, but how its peptides are presented to CD4 T cells by MHCII ri... DisGeNET Detail
Our study indicates that MHC class II molecules may play an important role in beta-cell interaction ... DisGeNET Detail
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In situ PLA showed that the IDH1R132H epitope colocalizes with MHC class II in IDH1R132H-mutated gli... DisGeNET Detail
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HLA-E*0103/E*0103 genotype is associated with lower risk of graft-versus-host disease, decreased mor... DisGeNET Detail
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Efficient vaccine against pandemic influenza: combining DNA vaccination and targeted delivery to MHC... DisGeNET Detail
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Our results suggest that therapeutic approaches using combined targeting of STAT1 and MHC class I ma... DisGeNET Detail
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On the basis of these findings, we propose that factors enabling a β2GPI-reactive T cell response ma... DisGeNET Detail
Among them there are a number of pSS associated gene polymorphisms including the MHC-II, STAT4, IRF5... DisGeNET Detail
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We identified that the HLA-E and HLA-F in gastric cancer independently affected clinical factors, in... DisGeNET Detail
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Exploration of peptides bound to MHC class I molecules in melanoma. DisGeNET Detail
Aberrant Expression of MHC Class II in Melanoma Attracts Inflammatory Tumor-Specific CD4+ T- Cells, ... DisGeNET Detail
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Optimal selection of natural killer cells to kill myeloma: the role of HLA-E and NKG2A. DisGeNET Detail
Data including and excluding Major Histocompatibility Complex (MHC) markers were summed to a MS Gene... DisGeNET Detail
A mild line of MHC-CELFΔ mice that expresses a lower level of the dominant negative protein exhibits... DisGeNET Detail
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Our results also showed that the expression of HLA-E was significantly correlated with tumor metasta... DisGeNET Detail
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An MHC II-dependent activation loop between adipose tissue macrophages and CD4+ T cells controls obe... DisGeNET Detail
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Comprehensive evaluation of the cytotoxic T-lymphocyte antigen-4 gene polymorphisms in risk of bone ... DisGeNET Detail
Associations between the cytotoxic T lymphocyte antigen 4 polymorphisms and risk of bone sarcomas. DisGeNET Detail
The levels of HLA-E protein expression in SOC patients with the HLA-E*0103 allele were higher than t... DisGeNET Detail
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In addition, we show that the MHC and TNIP1 regions are significantly different in patients with pso... DisGeNET Detail
Lack of association between cytotoxic T-lymphocyte antigen-4+49A/G polymorphism and psoriasis and vi... DisGeNET Detail
Replication and cross-phenotype study based upon schizophrenia GWASs data in the Japanese population... DisGeNET Detail
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A model is therefore proposed in which the host upregulates MHC-I expression during RSV infection di... DisGeNET Detail
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In addition, three HLA alleles, all MHC class II proteins, were significantly associated with rosace... DisGeNET Detail
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Replication and cross-phenotype study based upon schizophrenia GWASs data in the Japanese population... DisGeNET Detail
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The human MHC class I protein HLA-B*27:05 is statistically associated with ankylosing spondylitis, u... DisGeNET Detail
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However, the potential application of pMHC to human stroke is limited by the need to rapidly match r... DisGeNET Detail
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Taken together, our results provide evidence that the protozoan T. cruzi specifically modulates its ... DisGeNET Detail
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A genome-wide significant association with cryoglobulin-related vasculitis was identified with SNPs ... DisGeNET Detail
HLA-C is unique among the classical MHC class I molecules for its role in the control of viral infec... DisGeNET Detail
Lack of association between cytotoxic T-lymphocyte antigen-4+49A/G polymorphism and psoriasis and vi... DisGeNET Detail
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Among them there are a number of pSS associated gene polymorphisms including the MHC-II, STAT4, IRF5... DisGeNET Detail
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MHC class I chain-related gene a diversity in patients with cutaneous malignant melanoma from southe... DisGeNET Detail
Unique to those in the D-HLHS group was increased β-MHC and decreased α-MHC protein expression (MHC ... DisGeNET Detail
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Infection early in life is linked to persistent wheezing and allergic asthma in later life, possibly... DisGeNET Detail
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MHC class I loss is a frequent mechanism of immune escape in papillary thyroid cancer that is revers... DisGeNET Detail
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Deletion of MHC II expression in macrophages led to an adipose tissue-specific decrease in the effec... DisGeNET Detail
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Next, the first immune-activating anticytotoxic lymphocyte antigen-4 (CTLA-4) antibody ipilimumab ex... DisGeNET Detail
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This study was undertaken to investigate relationships between the HLA-E gene single nucleotide poly... DisGeNET Detail
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Replication and cross-phenotype study based upon schizophrenia GWASs data in the Japanese population... DisGeNET Detail
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Increased MHC-I expression may exacerbate the RSV disease condition due to immunopathologic damage, ... DisGeNET Detail
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Lack of impact of cytotoxic T-lymphocyte antigen 4 gene exon 1 polymorphism on susceptibility to or ... DisGeNET Detail
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The finding of a MHC class II locus underlying SSNS risk suggests a major role for immune response i... DisGeNET Detail
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To evaluate MHC class I expression on papillary thyroid cancer (PTC) and analyze changes in MHC expr... DisGeNET Detail
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Here, we investigated a peptide-based vaccine, which consists of two MHC class II epitopes derived f... DisGeNET Detail
The vaccines showed some efficacy in mice with sarcoma, melanoma, and breast cancer and activated MH... DisGeNET Detail
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We identified that the HLA-E and HLA-F in gastric cancer independently affected clinical factors, in... DisGeNET Detail
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HLA-E polymorphism did not affect the cumulative incidence of acute GVHD grades II-IV at 100 days, t... DisGeNET Detail
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Revisiting MHC genes in spondyloarthritis. DisGeNET Detail
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The levels of HLA-E protein expression in SOC patients with the HLA-E*0103 allele were higher than t... DisGeNET Detail
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Enforced wild-type B2M expression in a cHL cell line restored MHC-I expression. DisGeNET Detail
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Kaplan-Meier analysis results showed that the expression levels of HLA-G or HLA-E alone and the comb... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
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Comprehensive evaluation of the cytotoxic T-lymphocyte antigen-4 gene polymorphisms in risk of bone ... DisGeNET Detail
Associations between the cytotoxic T lymphocyte antigen 4 polymorphisms and risk of bone sarcomas. DisGeNET Detail
NA DisGeNET Detail
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Lack of association between cytotoxic T-lymphocyte antigen-4+49A/G polymorphism and psoriasis and vi... DisGeNET Detail
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This study further defined an extremely strong MHC risk component in BSCR, and detected evidence for... DisGeNET Detail
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There was a trend of reduced NPC risk in individuals who were homozygous for both HLA-E(∗)01:03 and ... DisGeNET Detail
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Significance of association of HLA-C and HLA-E with psoriatic arthritis. DisGeNET Detail
The association to MHC class II (MHC-II) has been studied in several animal models of RA. DisGeNET Detail
This study was undertaken to investigate relationships between the HLA-E gene single nucleotide poly... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
A considerable number of confirmed associations with RA and other autoimmune disease susceptibility ... DisGeNET Detail
Molecular mechanisms for contribution of MHC molecules to autoimmune diseases. DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
Two recent genome-wide association studies (GWASs) of BD confirmed a strong association with the MHC... DisGeNET Detail
This study reinforces the notion that CCR1, KLRC4, IL12A-AS1, STAT4, and ERAP1 are bona fide suscept... DisGeNET Detail
These data support shared risk SNPs between SCZ and BD in the Japanese population and association be... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
Here, we evaluated the use of an alternative approach that uses the proximity ligation assay (PLA) t... DisGeNET Detail
Here, we investigated a peptide-based vaccine, which consists of two MHC class II epitopes derived f... DisGeNET Detail
The vaccines showed some efficacy in mice with sarcoma, melanoma, and breast cancer and activated MH... DisGeNET Detail
NA DisGeNET Detail
To evaluate MHC class I expression on papillary thyroid cancer (PTC) and analyze changes in MHC expr... DisGeNET Detail
NA DisGeNET Detail

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs114465251 dbSNP
Genome
hg38
Position
chr6:30,489,509-30,494,194
Variant Type
snv
Genome browser