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MCID: ATM095
MIFTS: 61

Autoimmune Disease

Categories: Immune diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Autoimmune Disease

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MalaCards integrated aliases for Autoimmune Disease:

Name: Autoimmune Disease 56 12 29 17
Autoimmune Diseases 54 42 15 71
Autoimmune Hypersensitivity Disease 12 15
Hypersensitivity Reaction Type Ii Disease 12
Type Ii Hypersensitivity Reaction Disease 17

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant gene epistatic to other secondary genes conferring specificity to the autoimmune phenotype


HPO:

31
autoimmune disease:
Inheritance autosomal dominant inheritance


Classifications:

MalaCards categories:
Anatomical: Immune diseases
See all MalaCards categories (disease lists)


External Ids:

Disease Ontology 12 DOID:417
OMIM 56 109100
ICD9CM 34 720
MedGen 41 C0004364
SNOMED-CT via HPO 68 263681008
UMLS 71 C0003089 C0004364
Sources

Summaries for Autoimmune Disease

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MedlinePlus : 42 Your body's immune system protects you from disease and infection. But if you have an autoimmune disease, your immune system attacks healthy cells in your body by mistake. Autoimmune diseases can affect many parts of the body. No one is sure what causes autoimmune diseases. They do tend to run in families. Women - particularly African-American, Hispanic-American, and Native-American women - have a higher risk for some autoimmune diseases. There are more than 80 types of autoimmune diseases, and some have similar symptoms. This makes it hard for your health care provider to know if you really have one of these diseases, and if so, which one. Getting a diagnosis can be frustrating and stressful. Often, the first symptoms are fatigue, muscle aches and a low fever. The classic sign of an autoimmune disease is inflammation, which can cause redness, heat, pain and swelling. The diseases may also have flare-ups, when they get worse, and remissions, when symptoms get better or disappear. Treatment depends on the disease, but in most cases one important goal is to reduce inflammation. Sometimes doctors prescribe corticosteroids or other drugs that reduce your immune response.

MalaCards based summary : Autoimmune Disease, also known as autoimmune diseases, is related to vitiligo-associated multiple autoimmune disease susceptibility 1 and autoimmune disease of endocrine system. An important gene associated with Autoimmune Disease is GAS5 (Growth Arrest Specific 5), and among its related pathways/superpathways are Innate Immune System and Cytokine Signaling in Immune system. The drugs Hydroxychloroquine and Azithromycin have been mentioned in the context of this disorder. Affiliated tissues include t cells, b cells and thyroid, and related phenotypes are autoimmune antibody positivity and hematopoietic system

Disease Ontology : 12 An immune system disease that is an overactive immune response of the body against substances and tissues normally present in the body resulting from an abnormal functioning of the immune system that results in the production of antibodies or T cell directed against the host tissues.

Wikipedia : 74 An autoimmune disease is a condition arising from an abnormal immune response to a normal body part.... more...

More information from OMIM: 109100
Sources

Related Diseases for Autoimmune Disease

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Diseases related to Autoimmune Disease via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 1398)
# Related Disease Score Top Affiliating Genes
1 vitiligo-associated multiple autoimmune disease susceptibility 1 35.5 PTPN22 NLRP1 CTLA4 AIRE
2 autoimmune disease of endocrine system 34.9 TNF PTPN22 IL17A IL10 IFNG CTLA4
3 autoimmune disease of gastrointestinal tract 34.9 TNF PTPN22 IL17A IL10 IFNG CTLA4
4 autoimmune disease of musculoskeletal system 34.9 TNFSF13B TNF PTPN22 IL17A IL10 IFNG
5 autoimmune disease of central nervous system 34.8 TNF IL17A IL10 IFNG CTLA4
6 autoimmune disease of eyes, ear, nose and throat 34.7 TNF IL17A IL10 CTLA4
7 autoimmune disease of urogenital tract 34.7 TNF IL17A IL10 CTLA4
8 autoimmune disease of blood 34.6 TNFSF13B IL10 CTLA4
9 systemic autoimmune disease 34.6 IL17A AIRE
10 systemic lupus erythematosus 34.4 TNFSF13B TNF STAT3 PTPN22 NLRP1 IL17A
11 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 34.2 TNFSF13B PTPN22 IL17A IL10 IFNG CTLA4
12 rheumatoid arthritis 34.1 TNFSF13B TNF SIAE PTPN22 NLRP1 IL17A
13 hashimoto thyroiditis 34.1 TNF PTPN22 IL17A IL10 IFNG CTLA4
14 celiac disease 1 34.1 TNF PTPN22 IL17A IL10 IFNG HLA-A
15 myasthenia gravis 34.0 TNFSF13B TNF PTPN22 IL10 IFNG CTLA4
16 multiple sclerosis 33.9 TNFSF13B TNF STAT3 PTPN22 IL17A IL10
17 graves' disease 33.9 PTPN22 IFNG HLA-A CTLA4 AIRE
18 primary biliary cirrhosis 33.9 TNF IL17A IL10 IFNG HLA-A ENO1
19 lupus erythematosus 33.9 TNF PTPN22 NLRP1 IL10 IFNG CTLA4
20 mixed connective tissue disease 33.8 TNFSF13B TNF IL10 IFNG
21 autoimmune hepatitis 33.8 TNF IL10 HLA-A CTLA4 AIRE
22 psoriasis 33.7 TNF STAT3 PTPN22 IL17A IL10 IFNG
23 diabetes mellitus, insulin-dependent 33.7 TNF PTPN22 IL17A IL10 IFNG HLA-A
24 diabetes mellitus 33.7 TNF STAT3 PTPN22 IL17A IL10 IFNG
25 alopecia areata 33.7 TNF PTPN22 IL17A IL10 IFNG HLA-A
26 vogt-koyanagi-harada disease 33.7 PTPN22 NLRP1 IL17A IL10 IFNG HLA-A
27 behcet syndrome 33.6 TNFSF13B TNF PTPN22 IL17A IL10 IFNG
28 interstitial lung disease 33.5 TNF IL17A IL10 IFNG
29 immune deficiency disease 33.5 ZAP70 TNFSF13B TNF IL10 IFNG HLA-A
30 autoimmune pancreatitis 33.5 TNFSF13B TNF IL17A IL10 ENO1 CTLA4
31 aplastic anemia 33.5 TNF STAT3 IL10 IFNG HLA-A CTLA4
32 granulomatosis with polyangiitis 33.5 TNFSF13B TNF PTPN22 IL17A CTLA4
33 neuromuscular disease 33.5 TNFSF13B TNF PTPN22 IL17A IL10 CTLA4
34 juvenile rheumatoid arthritis 33.5 TNF IL10 IFNG CTLA4
35 autoimmune gastritis 33.5 TNF IL10 IFNG HLA-A
36 cutaneous lupus erythematosus 33.5 TNFSF13B TNF IL17A IL10 IFNG
37 cryoglobulinemia 33.5 TNFSF13B TNF IL10 IFNG
38 autoimmune uveitis 33.4 TNF IL17A IL10 IFNG
39 immunodysregulation, polyendocrinopathy, and enteropathy, x-linked 33.4 IL17A IL10 CTLA4 AIRE
40 anemia, autoimmune hemolytic 33.4 ZAP70 TNFSF13B CTLA4
41 microscopic polyangiitis 33.4 TNF CTLA4
42 reactive arthritis 33.3 TNF IL17A IL10 IFNG
43 exanthem 33.3 TNF IL10 CTLA4
44 autoimmune polyendocrine syndrome 33.2 IL17A IL10 AIRE
45 autoimmune myocarditis 33.2 TNF IFNG
46 immune system disease 33.0 TNFSF13B TNF IL17A IL10 IFNG CTLA4
47 thyroiditis 32.8 TNF PTPN22 IL10 CTLA4
48 punctate inner choroidopathy 32.7 TNF IL10
49 autoimmune retinopathy 32.7 ENO1 AIRE
50 melioidosis 32.7 TNF IL10 IFNG

Graphical network of the top 20 diseases related to Autoimmune Disease:



Diseases related to Autoimmune Disease
Sources

Symptoms & Phenotypes for Autoimmune Disease

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Human phenotypes related to Autoimmune Disease:

31
# Description HPO Frequency HPO Source Accession
1 autoimmune antibody positivity 31 HP:0030057

Symptoms via clinical synopsis from OMIM:

56
Immunology:
autoimmune disease

Lab:
high titer autoantibody

Clinical features from OMIM:

109100

MGI Mouse Phenotypes related to Autoimmune Disease:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 10.07 AIRE CTLA4 IFNG IL10 IL17A ITCH
2 digestive/alimentary MP:0005381 9.97 AIRE CTLA4 IFNG IL10 IL17A PTPN22
3 endocrine/exocrine gland MP:0005379 9.97 AIRE CTLA4 IFNG IL10 IL17A PTPN22
4 immune system MP:0005387 9.97 AIRE CTLA4 IFNG IL10 IL17A ITCH
5 liver/biliary system MP:0005370 9.5 AIRE CTLA4 IFNG IL10 PTPN22 STAT3
6 respiratory system MP:0005388 9.32 AIRE CTLA4 IFNG IL10 IL17A ITCH
Sources

Drugs & Therapeutics for Autoimmune Disease

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Drugs for Autoimmune Disease (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 623)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Hydroxychloroquine Approved Phase 4 118-42-3 3652
2
Azithromycin Approved Phase 4 83905-01-5 55185 447043
3
Valsartan Approved, Investigational Phase 4 137862-53-4 60846
4
Angiotensin II Approved, Investigational Phase 4 68521-88-0, 4474-91-3, 11128-99-7 172198
5
Iron Approved, Experimental Phase 4 7439-89-6, 15438-31-0 23925 27284
6
Amoxicillin Approved, Vet_approved Phase 4 26787-78-0 33613
7
Latanoprost Approved, Investigational Phase 4 130209-82-4 5282380 5311221
8
Betamethasone Approved, Vet_approved Phase 4 378-44-9 9782
9
Lamivudine Approved, Investigational Phase 4 134678-17-4 60825
10
Insulin aspart Approved Phase 4 116094-23-6 16132418
11
Insulin glargine Approved Phase 4 160337-95-1
12
Entecavir Approved, Investigational Phase 4 142217-69-4 153941
13
Halofantrine Approved Phase 4 69756-53-2 37393
14 Orange Approved Phase 4
15 Artichoke Approved Phase 4
16 Strawberry Approved Phase 4
17
Peginterferon alfa-2b Approved Phase 4 215647-85-1, 99210-65-8
18
Guaifenesin Approved, Investigational, Vet_approved Phase 4 93-14-1 3516
19
Tocopherol Approved, Investigational Phase 4 1406-66-2, 54-28-4 14986
20
Adalimumab Approved Phase 4 331731-18-1 16219006
21
Etanercept Approved, Investigational Phase 4 185243-69-0
22
Abatacept Approved Phase 4 332348-12-6 10237
23
Infliximab Approved Phase 4 170277-31-3
24
Tofacitinib Approved, Investigational Phase 4 477600-75-2
25
Artesunate Approved, Investigational Phase 4 88495-63-0 6917864 5464098
26
Hyaluronic acid Approved, Vet_approved Phase 4 9004-61-9 53477741
27
belimumab Approved Phase 4 356547-88-1 5957 10451420
28
Dimethyl fumarate Approved, Investigational Phase 4 624-49-7 637568 5271565
29
Progesterone Approved, Vet_approved Phase 4 57-83-0 5994
30
Prednisone Approved, Vet_approved Phase 4 53-03-2 5865
31
Triamcinolone Approved, Vet_approved Phase 4 124-94-7 31307
32
Aspirin Approved, Vet_approved Phase 4 50-78-2 2244
33
Melatonin Approved, Nutraceutical, Vet_approved Phase 4 73-31-4 896
34
Vitamin E Approved, Nutraceutical, Vet_approved Phase 4 59-02-9 14985
35
Ergocalciferol Approved, Nutraceutical Phase 4 50-14-6 5280793
36
Vitamin D Approved, Nutraceutical, Vet_approved Phase 4 1406-16-2
37
Calcium Approved, Nutraceutical Phase 4 7440-70-2 271
38
Tenofovir Experimental, Investigational Phase 4 147127-20-6 464205
39
Adefovir Investigational Phase 4 106941-25-7
40 Tocotrienol Investigational Phase 4 6829-55-6
41 Rosuvastatin Calcium Phase 4 147098-20-2
42 Immunoglobulin A Phase 4
43 Angiotensin II Type 1 Receptor Blockers Phase 4
44 Giapreza Phase 4
45 Angiotensin Receptor Antagonists Phase 4
46 Angiotensinogen Phase 4
47 Protective Agents Phase 4
48 Antihypertensive Agents Phase 4
49 Central Nervous System Depressants Phase 4
50 Hematinics Phase 4

Interventional clinical trials:

(show top 50) (show all 1372)
# Name Status NCT ID Phase Drugs
1 A Phase 4, Open-Label Study to Investigate the Efficacy and Safety of Ledipasvir/Sofosbuvir Fixed-Dose Combination for 12 Weeks in Subjects With Chronic Genotype 1 and 4 HCV Infection With Autoimmune Disease Unknown status NCT02691728 Phase 4 LDV/SOF FDC
2 Efficacy and Adverse Effect of Simvastatin Compare to Rosuvastatin in SLE Patients With Corticosteroid Therapy and High LDL Cholesterol Level Unknown status NCT00866229 Phase 4 Rosuvastatin;Simvastatin
3 Calcitriol in the Treatment of Immunoglobulin A Nephropathy Unknown status NCT00862693 Phase 4 Calcitriol
4 A Phase IV, Single-site, Open-Label Study to Evaluate the Efficacy of High-Dose Gammaplex in Children on the Autism Spectrum Unknown status NCT02199925 Phase 4 Gammaplex 5%
5 Intervention Study Measuring Inflammatory Cytokine Levels in the Serum of Patients Who Underwent an Acute MI, and the Influence of Vitamin D on These Levels Unknown status NCT01115842 Phase 4 Vitamin D
6 Safety and Efficacy of Anti-Pandemic H1N1 Vaccination in Rheumatic Diseases Unknown status NCT01151644 Phase 4
7 Endothelial Dysfunction in Systemic Lupus Erythematosus: Its Contribution to Abnormalities in Coronary Perfusion. Unknown status NCT00188188 Phase 4 quinipril
8 Open Label Study of Prednisone and Azithromycin in the Treatment of Patients With Cat Scratch Disease Unknown status NCT01469702 Phase 4 prednison and azithromycin;prednison, azithromycin;prednison, Azenil
9 Hydroxychloroquine Sulfate Alleviates Persistent Proteinuria in IgA Nephropathy:a Single Center Prospective Randomized Controlled Study Unknown status NCT02765594 Phase 4 Hydroxychloroquine Sulfate;Valsartan
10 Immune Response After Human Papillomavirus Vaccination in Patients With Autoimmune Disease Completed NCT00815282 Phase 4
11 A Placebo Controlled Trial of Amoxicillin for Pediatric Autoimmune Neuropsychiatric Disorders Associated With Streptococcal Infections Completed NCT00001658 Phase 4 Amoxicillin
12 Evaluation of Vaccination Against Influenza (Seasonal and H1N1) in Patients Presenting Systemic or Autoimmune Diseases Treated or Not With Steroids, and/or Immunosuppressant, and/or Biotherapy: an Open, Prospective Trial (MAIVAX) Completed NCT01065285 Phase 4
13 A Pilot Study of Mitoxantrone for the Treatment of Recurrent Neuromyelitis Optica (Devic’s Disease) Completed NCT00304291 Phase 4 Mitoxantrone
14 Study Evaluating Rapid Infusion Rituximab in Patients With Autoimmune Diseases Completed NCT02040116 Phase 4 Rituximab Infusion
15 Open Label Study of Hydroxychloroquine for Alopecia Areata, Alopecia Totalis Completed NCT00176982 Phase 4 Hydroxychloroquine
16 A Randomized Comparative Study of Efficacy and Safety of Topical Latanoprost Versus Topical Corticosteroid in the Treatment of Localized Alopecia Areata Completed NCT02350023 Phase 4 Topical latanoprost 0.005%;Topical betamethasone 0.05%
17 Influence of Plasma Exchange Therapy on the Pharmacokinetics of Rituximab in Patients Treated for Autoimmune Disorders. Completed NCT00820469 Phase 4 Rituximab 375;rituximab 1000
18 A Phase 4, Multi-Center, Randomized, Open-Label Study to Evaluate the Effect of BENLYSTAâ„¢ (Belimumab; HGS1006) on Vaccine Responses in Subjects With Systemic Lupus Erythematosus (SLE) Completed NCT01597492 Phase 4
19 Prospective, Randomized, Double Blind Placebo Controled Clinical Trial to Assess the Multi- Systemic Effect of Vitamin D Supplementation on Young Men With Vitamin D Deficiency Completed NCT01016184 Phase 4
20 Placebo Controlled Pilot Study on Effects of Vitamin D Supplementation in Subjects With New Onset of Type 1 Diabetes on Immunological, Endocrine and Metabolic Parameters: Step 2 in the Austrian Diabetes Prevention Programme Completed NCT01390480 Phase 4 Cholecalciferol
21 Placebo Controlled Study to Assess the Effects of Vitamin D Supplementation on Parameters of the Immune, Endocrine and Metabolic System in Healthy Women and Men. Completed NCT01248442 Phase 4 Cholecalciferol;Placebo
22 A Phase 3/4, Multi-Center, Randomized, Double-Blind, Placebo-Controlled, 52-Week Study to Evaluate the Efficacy and Safety of Belimumab (HGS1006) in Adult Subjects of Black Race With Systemic Lupus Erythematosus (SLE) Completed NCT01632241 Phase 4 Standard therapy
23 Effect Of Hormone Replacement Therapy On Disease Activity, Menopausal Symptoms And Bone Mineral Density In Peri/Postmenopausal Women With Systemic Lupus Erythematosus.Randomized Clinical Trial Completed NCT00392093 Phase 4 Conjugated equine estrogens 0.625 mg/d + MPA 5 mg/d/10d
24 Multicenter Randomized Clinical Trial in Patients With Juvenile Idiopathic Arthritis: Safety and Efficacy of Vaccination With Live Attenuated Measles, Mumps, Rubella Vaccine Completed NCT00731965 Phase 4
25 The Effect of Insulin Degludec on Risk of Symptomatic Nocturnal Hypoglycaemia in Subjects With Type 1 Diabetes and High Risk of Nocturnal Severe Hypoglycaemia Completed NCT02192450 Phase 4 Insulin aspart/glargine;Insulin aspart/degludec
26 Use of Vitamin D in Treatment of Non-Alcoholic Fatty Liver Disease Detected by Transient Elastography Completed NCT04038853 Phase 4 1,25-Dihydroxyvitamin D;Placebo
27 Effect of Ergocalciferol Repletion on Urine Calcium Among Stone Formers With Vitamin D Deficiency and Hypercalciuria Completed NCT01295879 Phase 4 Ergocalciferol
28 Pneumococcal Vaccination of Crohn Patients - A Randomized, Non-blinded Phase 4 Clinical Trial With the Purpose of Investigating the Immune Response Against Two Different Pneumococcal Vaccines in Patients With Crohn's Disease Completed NCT01947010 Phase 4
29 Comparison of Two Standard High-dose Treatment Regimens for Vitamin D Deficiency in Minority Adolescents: Associations of Vitamin D Repletion With Changes in Markers of Musculoskeletal, Cardiometabolic, and Immune Function Completed NCT01784029 Phase 4 Vitamin D3
30 Comparison Between Iron Supplementation Using Total Dose Infusion and Oral Routes for Treatment of Iron Deficiency Anemia in Pregnancy Completed NCT02086838 Phase 4 Theragran Hematinic;low molecular weight iron dextran
31 A Phase IV, Open Label Study Introducing a Single IV Treatment With Abatacept in Patients With Rheumatoid Arthritis Currently Receiving Weekly Injections of SC Abatacept to Simulate a Holiday or Patient Vacation Completed NCT01846975 Phase 4 IV Abatacept
32 A Multi-Center, Pre-Marketing Clinical Trial to Evaluate the Efficacy and Safety of Infliximab Treatment on Rheumatoid Arthritis Completed NCT00896168 Phase 4 Infliximab;Methotrexate
33 EFFECTS OF A DIET RICH IN N-3 POLYUNSATURATED FATTY ACIDS ON SYSTEMIC INFLAMMATION IN RENAL TRANSPLANT RECIPIENTS Completed NCT01872455 Phase 4
34 SWITCH OR ADD PEGYLATED-INTERFERON IN CHRONIC HEPATITIS B PATIENTS ON LONG TERM NUCLEOS(T)IDE THERAPY (SWAP TRIAL) Completed NCT01928511 Phase 4 peg-interferon alpha 2b, 1.5mcg/kg s/c given weekly;Nucleos(t)ide analogue therapy
35 Randomized Trial of Pulsatile vs Non Pulsatile Perfusion on Short Term Changes in Kidney Function Using an Intra-Aortic Ballooon Pump During Cardioplegic Arrest in Patients Undergoing Myocardial Reperfusion Completed NCT00454428 Phase 4
36 Everolimus in Association With Very Low-dose Tacrolimus Versus Enteric-coated Mycophenolate Sodium With Low-dose Tacrolimus in de Novo Renal Transplant Recipients - A Prospective Single Center Study Completed NCT02084446 Phase 4 Everolimus;Very Low Tacrolimus;Low Tacrolimus;Steroids;Thymoglobulin;Sodium Mycophenolate
37 Is Dietary Melatonin Supplementation a Viable Adjunctive Therapy for Chronic Periodontitis? A Preliminary Randomized Clinical Trial. Completed NCT03368430 Phase 4 Placebo
38 Metabolic and Vascular Effects of Silybin in Hypertensive Patients With High One-hour Post-load Plasma Glucose: a Single Arm Pilot Study Completed NCT03538327 Phase 4 Silybin
39 Alemtuzumab in Autoimmune Inflammatory Neurodegeneration: Mechanisms of Action and Neuroprotective Potential Recruiting NCT02419378 Phase 4 Alemtuzumab
40 Relevance of Monitoring Blood Levels Compared to Salivar Levels of Drugs Used in Rheumatic Autoimmune Diseases: Adherence and Understanding the Possible Underlying Mechanisms Involved in Effectiveness and in Adverse Effects Recruiting NCT03122431 Phase 4 Thalidomide;Hydroxychloroquine reduced;Hydroxychloroquine high
41 MIRACLE (Methotrexate Inadequate Response Patient With Rheumatoid Arthritis Treated by Adalimumab in Combination With Low-dose Methotrexate) Study Recruiting NCT03505008 Phase 4 Methotrexate;Adalimumab
42 Effect of Hydroxychloroquine on Endothelial Function: a Clinical Trial Recruiting NCT04161339 Phase 4 Hydroxychloroquine;Placebo oral tablet
43 Evaluation of Effectiveness of Acetylsalicylic Acid on Markers of Vascular Dysfunction in Patients With Systemic Sclerosis Recruiting NCT03558854 Phase 4 Acetylsalicylic acid;Placebo oral capsule
44 Tacrolimus Treatment for Refractory Pure Red Cell Aplasia, a Prospective Study Recruiting NCT03540472 Phase 4 tacrolimus
45 A Randomized, Placebo-Controlled Study to Evaluate the Efficacy and Safety of Artesunate Plus Standard of Care in Active Lupus Nephritis: Pilot Study Recruiting NCT03214731 Phase 4 Artesunate
46 Sirolimus Treatment for Refractory Pure Red Cell Aplasia, a Prospective Study Recruiting NCT03364764 Phase 4 Sirolimus
47 Silymarin® - Efficacy in Treatment of Non-alcoholic Fatty Liver Disease (NAFLD) Controlled by Laboratory and and Elastographic Parameters Recruiting NCT02973295 Phase 4 Silymarin
48 Open-label Prospective Randomized Study to Determine the Efficacy and Safety of Two Dosing Regimens of ACTHar in the Treatment of Proliferative Lupus Nephritis. Recruiting NCT02226341 Phase 4 CellCept;ACTHar gel;ACTHar gel
49 Immunoadsorption in Anti-glomerular Basement Membrane Glomerulonephritis; a Pilot Study Recruiting NCT02765789 Phase 4
50 Abatacept Bone Effects in Psoriatic Arthritis With Bone Biomarkers - ABEPSA _ BB Recruiting NCT04106804 Phase 4 Abatacept 125 MG/ML

Search NIH Clinical Center for Autoimmune Disease

Inferred drug relations via UMLS 71 / NDF-RT 50 :


Methylprednisolone
methylprednisolone acetate
Methylprednisolone Sodium Succinate
Prednisone
PREDNISONE PWDR
Sources

Genetic Tests for Autoimmune Disease

About this section

Genetic tests related to Autoimmune Disease:

# Genetic test Affiliating Genes
1 Autoimmune Disease 29
Sources

Anatomical Context for Autoimmune Disease

About this section

MalaCards organs/tissues related to Autoimmune Disease:

40
T Cells, B Cells, Thyroid, Bone, Liver, Skin, Lung
Sources

Publications for Autoimmune Disease

About this section

Articles related to Autoimmune Disease:

(show top 50) (show all 53735)
# Title Authors PMID Year
1
Clustering of non-major histocompatibility complex susceptibility candidate loci in human autoimmune diseases. 61 56
9707586 1998
2
Familial polyarteritis nodosa: a serologic and immunogenetic analysis. 61 56
2568486 1989
3
Classification of experimental data for genetic analysis in autoimmune disease. 61 56
3337106 1988
4
Evidence that autoimmunity in man is a Mendelian dominant trait. 61 56
3098096 1986
5
Primary Sjögren's syndrome and other autoimmune diseases in families. Prevalence and immunogenetic studies in six kindreds. 61 56
6437309 1984
6
Genetic factors predisposing to autoimmune diseases. Autoimmune hemolytic anemia, chronic thrombocytopenic purpura, and systemic lupus erythematosus. 61 56
6756137 1982
7
H gene theory of inherited autoimmune disease. 61 56
6101848 1980
8
JAK inhibitors for the treatment of autoimmune and inflammatory diseases. 61 42
31520803 2019
9
Pediatric and adult forms of type I autoimmune hepatitis in Argentina: evidence for differential genetic predisposition. 56
10573514 1999
10
Mapping the major susceptibility loci for familial Graves' and Hashimoto's diseases: evidence for genetic heterogeneity and gene interactions. 56
10599734 1999
11
On genetic components in autoimmunity: a critical review based on evolutionarily oriented rationality. 56
1483686 1992
12
Evidence that autoimmunity in man is a Mendelian dominant trait. 56
3337107 1988
13
Inherited susceptibility to autoimmune Addison's disease is linked to human leukocyte antigens-DR3 and/or DR4, except when associated with type I autoimmune polyglandular syndrome. 56
3484749 1986
14
[Familial autoimmune pathology comprising 2 cases of primary biliary cirrhosis]. 56
6578990 1983
15
Hereditary autoimmune thrombocytopenic purpura: an immunologic and genetic study. 56
7195175 1981
16
The genetic lesions of autoimmunity. 56
6769621 1980
17
Hereditary aspects of autoimmune hemolytic anemia; a retrospective analysis. 56
5660845 1968
18
MYASTHENIA GRAVIS AND HYPERTHYROIDISM IN TWO SISTERS. 56
14158527 1964
19
Inhaled GM-CSF for Pulmonary Alveolar Proteinosis. 42
31483963 2019
20
The Heart Matters: Contribution of Genetic Factors in Recurrent Pericarditis. 42
31507126 2019
21
A biochemical and genetic study on all non-synonymous single nucleotide polymorphisms of the gene encoding human deoxyribonuclease I potentially relevant to autoimmunity. 54 61
20417303 2010
22
Targeting SDF-1/CXCL12 with a ligand that prevents activation of CXCR4 through structure-based drug design. 54 61
20459090 2010
23
Functional signaling of membrane-bound TL1A induces IFN-gamma expression. 54 61
20403353 2010
24
Retinoic acid-inducible gene-I (RIG-I) is induced by IFN-{gamma} in human mesangial cells in culture: possible involvement of RIG-I in the inflammation in lupus nephritis. 54 61
20167631 2010
25
Allele and haplotype frequency distribution in PTPN22 gene across variable ethnic groups: Implications for genetic association studies for autoimmune diseases. 54 61
20166877 2010
26
IL-9: basic biology, signaling pathways in CD4+ T cells and implications for autoimmunity. 54 61
20020328 2010
27
The cytokine milieu in the interplay of pathogenic Th1/Th17 cells and regulatory T cells in autoimmune disease. 54 61
20383174 2010
28
Evaluation of 6 candidate genes on chromosome 11q23 for coeliac disease susceptibility: a case control study. 54 61
20478055 2010
29
Genetic risk factors in lupus nephritis and IgA nephropathy--no support of an overlap. 54 61
20479942 2010
30
Interleukin-17 and its expanding biological functions. 54 61
20383173 2010
31
The +49A>G CTLA-4 polymorphism is associated with rheumatoid arthritis in Mexican population. 54 61
20138855 2010
32
STAT4 gene influences genetic predisposition to ulcerative colitis but not Crohn's disease in the Spanish population: a replication study. 54 61
20153791 2010
33
Expression of IFNalpha-inducible genes and modulation of HLA-DR and thyroid stimulating hormone receptors in Graves' disease. 54 61
20015465 2010
34
Toll-like receptor 2 signaling in CD4(+) T lymphocytes promotes T helper 17 responses and regulates the pathogenesis of autoimmune disease. 54 61
20434372 2010
35
High levels of B cell activating factor during the peritransplantation period are associated with a reduced incidence of acute graft-versus-host disease following myeloablative allogeneic stem cell transplantation. 54 61
19963070 2010
36
HLA and CTLA4 polymorphisms may confer a synergistic risk in the susceptibility to Graves' disease. 54 61
20300120 2010
37
Novel sequence variation of AIRE and detection of interferon-omega antibodies in early infancy. 54 61
19863576 2010
38
The ROQUIN family of proteins localizes to stress granules via the ROQ domain and binds target mRNAs. 54 61
20412057 2010
39
American Chemical Society-239th national meeting--Investigating new therapeutic candidates: part 2. 21-25 March 2010, San Francisco, CA, USA. 54 61
20432181 2010
40
ST2: a novel biomarker for heart failure. 54 61
20465500 2010
41
Potential role of interleukin-17 in the pathogenesis of bullous pemphigoid. 54 61
19945799 2010
42
Comprehensive sequence analysis of the human IL23A gene defines new variation content and high rate of evolutionary conservation. 54 61
20154336 2010
43
Study on VNTR polymorphism of gene IL-1RA in 19 Chinese populations. 54 61
20002810 2010
44
Immune responses to Epstein-Barr virus in individuals with systemic and organ specific autoimmune disorders. 54 61
20404456 2010
45
Association of signal transducer and activator of transcription 4 genetic variants with extra-intestinal manifestations in inflammatory bowel disease. 54 61
20176035 2010
46
Evidence for STAT4 as a common autoimmune gene: rs7574865 is associated with colonic Crohn's disease and early disease onset. 54 61
20454450 2010
47
Immunoglobulin heavy chain variable region genes contribute to the induction of thyroid-stimulating antibodies in recombinant inbred mice. 54 61
20407472 2010
48
The interferon-inducible HIN-200 gene family in apoptosis and inflammation: implication for autoimmunity. 54 61
20187706 2010
49
99th Dahlem conference on infection, inflammation and chronic inflammatory disorders: immune therapies of type 1 diabetes: new opportunities based on the hygiene hypothesis. 54 61
20415859 2010
50
Type I interferon therapy and its role in autoimmunity. 54 61
20298125 2010
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Variations for Autoimmune Disease

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Copy number variations for Autoimmune Disease from CNVD:

7
# CNVD ID Chromosome Start End Type Gene Symbol CNVD Disease
1 208909 6 211050653 211252076 Copy number CYP21B Autoimmune disease
2 211046 6 3197570 32111174 Copy number C4B Autoimmune disease
3 211044 6 3197570 32111174 Copy number C4A Autoimmune disease
4 210509 6 30400000 36600000 Copy number TNXA Autoimmune disease
5 210508 6 30400000 36600000 Copy number CYP21A Autoimmune disease
6 21796 1 161592989 161601158 Deletion FCGR3B Autoimmune disease
7 21792 1 161592989 161601158 Copy number FCGR3B Autoimmune disease
8 21625 1 159859611 159867782 Copy number FCGR3B Autoimmune disease
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Expression for Autoimmune Disease

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Search GEO for disease gene expression data for Autoimmune Disease.
Sources

Pathways for Autoimmune Disease

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Pathways related to Autoimmune Disease according to GeneCards Suite gene sharing:

(show all 26)
# Super pathways Score Top Affiliating Genes
1
Innate Immune System 65
Show member pathways
 13.94 ZAP70 TNFSF13B TNF STAT3 PTPN22 NLRP1
2
Cytokine Signaling in Immune system 65
Show member pathways
 13.28 TNFSF13B TNF STAT3 IL17A IL10 IFNG
3
Allograft rejection 1 36
Show member pathways
 12.61 TNFSF13B TNF IL17A IL10 IFNG HLA-A
4
Immune response IL-23 signaling pathway 22
Show member pathways
 12.48 TNF STAT3 IL17A IL10 IFNG
5
Th17 cell differentiation 36
Show member pathways
 12.38 ZAP70 TNF STAT3 IL17A IL10 IFNG
6
IL-17 Family Signaling Pathways 64
Show member pathways
 12.25 TNF STAT3 IL17A IFNG
7
Toxoplasmosis 36
Show member pathways
 12.18 TNF STAT3 IL10 IFNG
8
Immune response IFN alpha/beta signaling pathway 22
Show member pathways
 12.17 TNF IL17A IL10 IFNG HLA-A
9
T cell receptor signaling pathway 36
Show member pathways
 12.04 ZAP70 TNF STAT3 IL17A IL10 IFNG
10
NF-kappaB Signaling 4
11.88 ZAP70 TNFSF13B TNF STAT3 PTPN22 NLRP1
11
Interleukin-4 and 13 signaling 65
11.85 TNF STAT3 IL17A IL10
12
Th1 Differentiation Pathway 64
Show member pathways
 11.77 TNF STAT3 IL17A IL10 IFNG
13
Dendritic Cells Developmental Lineage Pathway 64
11.67 TNF IL10 IFNG
14
Innate Lymphoid Cell Differentiation Pathways 64
11.66 TNF IL17A IL10 IFNG
15
CTLA4 Signaling 63
11.64 ZAP70 PTPN22 CTLA4
16
Calcineurin-regulated NFAT-dependent transcription in lymphocytes 1
Show member pathways
 11.61 TNF ITCH IFNG CTLA4
17
Downstream signaling in naive CD8+ T cells 1
Show member pathways
 11.57 TNF IFNG HLA-A
18
Microglia Activation During Neuroinflammation: Microglia Polarization 64
11.56 TNF IL17A IL10 IFNG
19
TGF-beta Receptor Signaling (WikiPathways) 1
11.53 TNF STAT3 IFNG
20
Rheumatoid arthritis 36
11.52 TNFSF13B TNF IL17A IFNG CTLA4
21
Malaria 36
11.46 TNF IL10 IFNG
22
Interleukin-10 signaling 65
11.44 TNF STAT3 IL10
23
African trypanosomiasis 36
11.28 TNF IL10 IFNG
24
IL-10 Pathway 63
11.24 TNF STAT3 IL10
25
Development and heterogeneity of the ILC family 1
11.19 TNF IL17A IFNG
26
Cytokines and Inflammatory Response 1
11.12 TNF IL10 IFNG
Sources

GO Terms for Autoimmune Disease

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Biological processes related to Autoimmune Disease according to GeneCards Suite gene sharing:

(show all 20)
# Name GO ID Score Top Affiliating Genes
1 response to organic substance GO:0010033 9.77 TNF STAT3 IL10
2 positive regulation of tyrosine phosphorylation of STAT protein GO:0042531 9.71 TNF STAT3 IFNG
3 immune system process GO:0002376 9.7 ZAP70 TNFSF13B PTPN22 NLRP1 ITCH HLA-A
4 humoral immune response GO:0006959 9.69 TNF IFNG AIRE
5 negative regulation of autophagy GO:0010507 9.65 STAT3 PTPN22 IL10
6 positive regulation of ATP biosynthetic process GO:2001171 9.58 STAT3 ENO1
7 positive regulation of chemokine biosynthetic process GO:0045080 9.58 TNF IFNG
8 negative thymic T cell selection GO:0045060 9.57 ZAP70 AIRE
9 negative regulation of amyloid-beta clearance GO:1900222 9.56 TNF IFNG
10 positive regulation of MHC class II biosynthetic process GO:0045348 9.55 IL10 IFNG
11 endothelial cell apoptotic process GO:0072577 9.52 TNF IL10
12 negative regulation of cytokine secretion involved in immune response GO:0002740 9.49 TNF IL10
13 positive regulation of interleukin-23 production GO:0032747 9.46 IL17A IFNG
14 positive regulation of calcidiol 1-monooxygenase activity GO:0060559 9.43 TNF IFNG
15 positive regulation of osteoclast differentiation GO:0045672 9.43 TNF IL17A IFNG
16 inflammatory response GO:0006954 9.43 TNF STAT3 NLRP1 ITCH IL17A IL10
17 receptor biosynthetic process GO:0032800 9.4 TNF IL10
18 positive regulation of vitamin D biosynthetic process GO:0060557 9.37 TNF IFNG
19 positive regulation of nitrogen compound metabolic process GO:0051173 9.32 TNF IFNG
20 immune response GO:0006955 9.28 ZAP70 TNFSF13B TNF IL17A IL10 IFNG

Molecular functions related to Autoimmune Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytokine activity GO:0005125 9.02 TNFSF13B TNF IL17A IL10 IFNG
Sources

Sources for Autoimmune Disease

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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