Aliases & Classifications for Autoimmune Disease

MalaCards integrated aliases for Autoimmune Disease:

Name: Autoimmune Disease 57 12 29 15 17
Autoimmune Diseases 54 42 15 70
Hypersensitivity Reaction Type Ii Disease 12
Type Ii Hypersensitivity Reaction Disease 17
Autoimmune Hypersensitivity Disease 12
Autoimmune Disorder 6



57 (Updated 05-Apr-2021)
autosomal dominant gene epistatic to other secondary genes conferring specificity to the autoimmune phenotype


autoimmune disease:
Inheritance autosomal dominant inheritance


External Ids:

Disease Ontology 12 DOID:417
OMIM® 57 109100
ICD9CM 34 720
MedGen 41 C0004364
SNOMED-CT via HPO 68 263681008
UMLS 70 C0003089 C0004364

Summaries for Autoimmune Disease

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 systemic lupus erythematosus. 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 Sofosbuvir and Ledipasvir have been mentioned in the context of this disorder. Affiliated tissues include t cells, thyroid and b cells, 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 : 73 An autoimmune disease is a condition arising from an abnormal immune response to a functioning body... more...

More information from OMIM: 109100

Related Diseases for Autoimmune Disease

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

(show top 50) (show all 1493)
# Related Disease Score Top Affiliating Genes
1 vitiligo-associated multiple autoimmune disease susceptibility 1 33.7 TNF PTPN22 NLRP1 IL17A CTLA4 AIRE
2 systemic lupus erythematosus 33.2 TNFSF13B TNF STAT3 PTPN22 NLRP1 IL17A
3 autoimmune disease of skin and connective tissue 33.2 TNF PTPN22 NLRP1 IL17A IL10 IFNG
4 autoimmune disease of musculoskeletal system 33.2 TNFSF13B TNF STAT3 PTPN22 IL17A IL10
5 autoimmune disease of endocrine system 33.2 TNF PTPN22 IL17A IL10 IFNG CTLA4
6 autoimmune disease of the nervous system 33.1 TNFSF13B TNF IL17A IL10 IFNG CTLA4
7 autoimmune disease of gastrointestinal tract 33.1 TNF STAT3 IL17A IL10 IFNG CTLA4
8 lupus erythematosus 33.1 TNF PTPN22 NLRP1 IL10 IFNG CTLA4
9 autoimmune disease of blood 33.1 TNFSF13B TNF IL10 CTLA4
10 autoimmune disease of eyes, ear, nose and throat 33.1 TNF IL17A IL10 CTLA4
11 autoimmune disease of exocrine system 33.0 TNFSF13B TNF IL17A IL10
12 rheumatoid arthritis 33.0 TNFSF13B TNF SIAE PTPN22 NLRP1 IL17A
13 autoimmune disease of peripheral nervous system 33.0 TNFSF13B IL17A IL10
14 hashimoto thyroiditis 33.0 PTPN22 IL17A IL10 IFNG ENO1 CTLA4
15 autoimmune disease of cardiovascular system 32.9 TNF IL17A IL10
16 multiple sclerosis 32.9 TNFSF13B TNF STAT3 PTPN22 IL17A IL10
17 celiac disease 1 32.9 TNF STAT3 PTPN22 IL17A IL10 IFNG
18 myasthenia gravis 32.8 TNFSF13B TNF IL10 IFNG CTLA4 AIRE
19 type 1 diabetes mellitus 32.8 TNF PTPN22 IL17A IL10 IFNG HLA-A
20 alopecia areata 32.8 TNF PTPN22 IL17A IL10 IFNG HLA-A
21 autoimmune disease of central nervous system 32.8 TNF IL17A IL10 IFNG CTLA4
22 graves' disease 32.8 PTPN22 IFNG HLA-A CTLA4 AIRE
23 autoimmune hepatitis 32.8 TNF IL17A IL10 HLA-A CTLA4 AIRE
24 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 32.7 TNFSF13B PTPN22 IL17A IL10 IFNG CTLA4
25 systemic autoimmune disease 32.7 IL17A AIRE
26 vogt-koyanagi-harada disease 32.7 PTPN22 NLRP1 IL17A IL10 IFNG HLA-A
27 diabetes mellitus 32.7 TNF STAT3 PTPN22 IL17A IL10 IFNG
28 psoriasis 32.7 TNF STAT3 PTPN22 IL17A IL10 IFNG
29 mixed connective tissue disease 32.7 TNFSF13B TNF IL10 IFNG
30 immunodysregulation, polyendocrinopathy, and enteropathy, x-linked 32.6 IL17A IL10 CTLA4 AIRE
31 sjogren syndrome 32.6 TNFSF13B SIAE IL10
32 common variable immunodeficiency 32.6 ZAP70 TNFSF13B TNF STAT3 IL10 IFNG
33 autoimmune gastritis 32.5 TNF IL10 IFNG HLA-A
34 autoimmune pancreatitis 32.5 TNFSF13B TNF IL10 ENO1 CTLA4
35 juvenile rheumatoid arthritis 32.5 TNF IL10 IFNG CTLA4
36 autoimmune uveitis 32.5 TNF IL17A IL10 IFNG
37 exanthem 32.5 TNF IL10 IFNG CTLA4
38 autoimmune myocarditis 32.5 TNF IFNG
39 primary biliary cholangitis 32.5 PTPN22 ENO1 CTLA4 AIRE
40 pemphigoid 32.5 ZAP70 TNF IFNG
41 familial mediterranean fever 32.4 TNF NLRP1 IL17A IL10 HLA-A
42 anemia, autoimmune hemolytic 32.4 ZAP70 TNFSF13B CTLA4
43 spinal cord disease 32.4 TNFSF13B TNF IL17A IL10
44 pemphigus 32.4 TNFSF13B TNF IL10
45 reactive arthritis 32.3 TNF IL17A IL10 IFNG
46 chronic inflammatory demyelinating polyradiculoneuropathy 32.3 IL17A IL10 IFNG
47 melioidosis 32.3 TNF IL10 IFNG
48 autoimmune retinopathy 32.3 ENO1 AIRE
49 autoimmune polyendocrine syndrome 32.3 IL17A IL10 AIRE
50 thyroiditis 32.3 TNF PTPN22 IL17A IL10 IFNG CTLA4

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

Diseases related to Autoimmune Disease

Symptoms & Phenotypes for Autoimmune Disease

Human phenotypes related to Autoimmune Disease:

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

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
autoimmune disease

high titer autoantibody

Clinical features from OMIM®:

109100 (Updated 05-Apr-2021)

MGI Mouse Phenotypes related to Autoimmune Disease:

# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 10.17 AIRE CTLA4 HLA-A IFNG IL10 IL17A
2 endocrine/exocrine gland MP:0005379 10.11 AIRE CTLA4 HLA-A IFNG IL10 IL17A
3 immune system MP:0005387 10.1 AIRE CTLA4 HLA-A IFNG IL10 IL17A
4 digestive/alimentary MP:0005381 10.06 AIRE CTLA4 IFNG IL10 IL17A ITCH
5 liver/biliary system MP:0005370 9.76 AIRE CTLA4 IFNG IL10 ITCH PTPN22
6 no phenotypic analysis MP:0003012 9.5 AIRE HLA-A IFNG IL10 IL17A SIAE
7 respiratory system MP:0005388 9.32 AIRE CTLA4 IFNG IL10 IL17A ITCH

Drugs & Therapeutics for Autoimmune Disease

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

(show top 50) (show all 306)
# Name Status Phase Clinical Trials Cas Number PubChem Id
Sofosbuvir Approved Phase 4 1190307-88-0 45375808
Ledipasvir Approved Phase 4 1256388-51-8 67505836
Everolimus Approved Phase 4 159351-69-6 6442177 70789204
Prednisolone acetate Approved, Vet_approved Phase 4 52-21-1
Methylprednisolone Approved, Vet_approved Phase 4 83-43-2 6741
Prednisolone Approved, Vet_approved Phase 4 50-24-8 5755
Methylprednisolone hemisuccinate Approved Phase 4 2921-57-5
Prednisolone phosphate Approved, Vet_approved Phase 4 302-25-0
Amoxicillin Approved, Vet_approved Phase 4 26787-78-0 33613
Mitoxantrone Approved, Investigational Phase 4 65271-80-9 4212
Thalidomide Approved, Investigational, Withdrawn Phase 4 50-35-1 5426
Naproxen Approved, Vet_approved Phase 4 22204-53-1 1302 156391
Doxycycline Approved, Investigational, Vet_approved Phase 4 564-25-0 54671203
Cephalexin Approved, Investigational, Vet_approved Phase 4 15686-71-2 27447
Calcitriol Approved, Nutraceutical Phase 4 32222-06-3 5280453 134070
Prednisolone hemisuccinate Experimental Phase 4 2920-86-7
17 Antibodies Phase 4
18 Immunoglobulins Phase 4
19 Nutrients Phase 4
20 Trace Elements Phase 4
21 Vitamins Phase 4
22 Hormones Phase 4
23 Micronutrients Phase 4
24 Calcium, Dietary Phase 4
25 Immunoglobulins, Intravenous Phase 4
26 Immunoglobulin A Phase 4
27 Vasoconstrictor Agents Phase 4
28 Vaccines Phase 4
29 Methylprednisolone Acetate Phase 4
30 Neuroprotective Agents Phase 4
31 Antiemetics Phase 4
32 Antitubercular Agents Phase 4
33 Analgesics, Non-Narcotic Phase 4
34 Analgesics Phase 4
35 Anti-Inflammatory Agents, Non-Steroidal Phase 4
36 Complement System Proteins Phase 4
37 Angiogenesis Inhibitors Phase 4
38 Complement C3 Phase 4
39 Cyclooxygenase Inhibitors Phase 4
40 Cephalosporins Phase 4
41 methicillin Phase 4
Calcium Nutraceutical Phase 4 7440-70-2 271
Methotrexate Approved Phase 3 1959-05-2, 59-05-2 126941
Tofacitinib Approved, Investigational Phase 3 477600-75-2
Nitroglycerin Approved, Investigational Phase 2, Phase 3 55-63-0 4510
Levoleucovorin Approved, Investigational Phase 3 68538-85-2 149436
Interferon beta-1a Approved, Investigational Phase 3 145258-61-3 6438354
rituximab Approved Phase 2, Phase 3 174722-31-7 10201696
Etanercept Approved, Investigational Phase 3 185243-69-0
Adalimumab Approved, Experimental Phase 3 331731-18-1 16219006

Interventional clinical trials:

(show top 50) (show all 353)
# Name Status NCT ID Phase Drugs
1 Rituximab (RTX) Therapy in Steroid Resistant Patients or Patients Relapsing After Intravenous Steroids With Active TAO Unknown status NCT02378298 Phase 4 Rituximab;Iv Methylprednisolone;peroral methylprednisolone and Methotrexate
2 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
3 Calcitriol in the Treatment of Immunoglobulin A Nephropathy Unknown status NCT00862693 Phase 4 Calcitriol
4 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
5 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
6 Study Evaluating Rapid Infusion Rituximab in Patients With Autoimmune Diseases Completed NCT02040116 Phase 4 Rituximab Infusion
7 A Placebo Controlled Trial of Amoxicillin for Pediatric Autoimmune Neuropsychiatric Disorders Associated With Streptococcal Infections Completed NCT00001658 Phase 4 Amoxicillin
8 Influence of Plasma Exchange Therapy on the Pharmacokinetics of Rituximab in Patients Treated for Autoimmune Disorders. Completed NCT00820469 Phase 4 Rituximab 375;rituximab 1000
9 Immune Response After Human Papillomavirus Vaccination in Patients With Autoimmune Disease Completed NCT00815282 Phase 4
10 A Pilot Study of Mitoxantrone for the Treatment of Recurrent Neuromyelitis Optica (Devic's Disease) Completed NCT00304291 Phase 4 Mitoxantrone
11 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
12 Patient-Reported AutoImmunity Secondary to Cancer immunothErapy Recruiting NCT03849131 Phase 4
13 A Multicenter, Randomized Controlled Clinical Study About Efficacy and Safety of Standard Dose and Individualized Dose of Rituximab in Maintaining Remission in Patients With Moderate to Severe Systemic Lupus Erythematosus Recruiting NCT04127747 Phase 4 Standard dose of rituximab;Individualized dose of rituximab
14 Double-Blind, Randomized, Placebo-Controlled Trial of Naproxen Sodium for the Treatment of Obsessive Compulsive Symptoms in Pediatric Autoimmune Neuropsychiatric Disorder Associated With Streptococcal Infections (PANDAS) Recruiting NCT04015596 Phase 4 Naproxen Sodium
15 Exploring the Effects of IL-23 Inhibition by Risankizumab on Psoriasis Autoimmunity Not yet recruiting NCT04722640 Phase 4 SKYRIZI
16 Antibiotic Prophylaxis in High-Risk Arthroplasty Patients Not yet recruiting NCT04297592 Phase 4 Cephalexin Oral Tablet;Doxycycline Hyclate
17 Hydroxychloroquine in SARS-CoV-2 (COVID-19) Pneumonia Trial Withdrawn NCT04382625 Phase 4 Hydroxychloroquine
18 Prospective, Double-blind, Randomised, Placebo-controlled, Cross-over Study to Investigate the Effect of Intravenous Immunoglobulins on Complex Regional Pain Syndrome (CRPS, M. Sudeck) Unknown status NCT00949065 Phase 3
19 Clinical and Immunological Long-term Follow-up of Patients With Pemphigus Included in the "RITUXIMAB 3" Trial With Medico-economic Evaluation of the Treatment. Unknown status NCT03790293 Phase 3 Rituximab;corticosteroids'therapy
20 A Study of a Topical Formulation of Nitroglycerin, MQX-503, and Matching Vehicle in the Treatment and Prevention of Raynaud's Phenomenon Unknown status NCT00577304 Phase 3 Nitroglycerin;Topical AmphiMatrix
21 Six Month Clinical Research Study for Patients With Moderate or Severe Dry Eye Syndrome Completed NCT00025818 Phase 3 Ophthalmic Emulsion
22 Phase 3 Randomized, Double-blind Study Of The Efficacy And Safety Of 2 Doses Of Cp-690,550 Compared To Methotrexate In Methotrexate Navie Patients With Rheumatoid Arthritis Completed NCT01039688 Phase 3 CP-690,550;CP-690,550;Disease-modifying antirheumatic drug
23 Phase III Laboratory Study of a Topical Gel Formulation of Nitroglycerin, MQX-503, in the Treatment of Raynaud's Phenomenon Completed NCT00253331 Phase 2, Phase 3 topical organogel with nitroglycerin
24 A Phase 3, Multicenter, Randomized, Double-blind, Placebo-Controlled Study to Evaluate the Efficacy and Safety of Subcutaneous LY2127399 in Patients With Systemic Lupus Erythematosus (SLE) Completed NCT01205438 Phase 3 LY2127399;Placebo every 2 weeks;Placebo every 4 weeks
25 A Phase 3, Multicenter, Randomized, Double Blind, Placebo-controlled Study to Evaluate the Efficacy and Safety of Subcutaneous LY2127399 in Participants With Systemic Lupus Erythematosus (SLE) Completed NCT01196091 Phase 3 LY2127399;Placebo every 2 weeks;Placebo every 4 weeks;Standard of Care
26 A Multi-Center, Double-Blind, Randomized Study Comparing the Combined Use of Interferon Beta-1a and Glatiramer Acetate to Either Agent Alone in Patients With Relapsing-Remitting Multiple Sclerosis (CombiRx) Completed NCT00211887 Phase 3 Interferon beta 1-a;glatiramer acetate
27 Measurement and Analysis of Patient Reported Gastrointestinal (GI) and Health-related Quality of Life (HRQL) Outcomes in Patients With Autoimmune Diseases Treated With Mycophenolate (MPA) Completed NCT00351377 Phase 3 Enteric-coated Mycophenolate Sodium
28 Childhood Onset Psychiatric Disorders: A Placebo Controlled Double-Blind Crossover Trial of Intravenous Immunoglobulin (IVIg) Completed NCT00001768 Phase 3 Intravenous immunoglobulin
29 Evaluation of Therapeutic Plasma Exchange (TPE) Procedure Using the AMICUS Device Completed NCT01210716 Phase 3
30 Phase 3 Study of Hydroxychloroquine Treatment of Dry Eyes in Patients With Primary Sjögren's Syndrome Completed NCT01601028 Phase 3 Hydroxychloroquine;Placebo
31 Immunogenicity and Duration of Immunity in Immunosuppressed Children Vaccinated With Quadrivalent HPV Vaccine Completed NCT02263703 Phase 3
32 A Randomized, Open-Label, Phase II Multicenter Study of High-Dose Immunosuppressive Therapy Using Total Body Irradiation, Cyclophosphamide, ATGAM, and Autologous Transplantation With Auto-CD34+HPC Versus Intravenous Pulse Cyclophosphamide for the Treatment of Severe Systemic Sclerosis (SCSSc-01) Completed NCT00114530 Phase 2, Phase 3 cyclophosphamide
33 Phase III "In-Life" Study of a Topical Gel Formulation of Nitroglycerin, MQX-503, and Matching Placebo Gel in the Treatment and Prevention of Raynaud's Phenomenon Completed NCT00419419 Phase 3 Topical AmphiMatrix with nitroglycerin (MQX-503)
34 A Randomized, Double-Blind, Placebo-Controlled, Multicenter Safety and Efficacy Trial of LJP 394 in Systemic Lupus Erythematosus (SLE) Patients With a History of Renal Disease Completed NCT00035308 Phase 3 Abetimus sodium (LJP 394)
35 A Randomised, Double-Blind, Placebo-Controlled Multicentre Clinical Trial of Inhaled Molgramostim in Autoimmune Pulmonary AlveoLAr Proteinosis Patients "IMPALA" Completed NCT02702180 Phase 2, Phase 3 molgramostim;placebo
36 An Open-label, Non-controlled, Multicentre Clinical Trial of Inhaled Molgramostim in Autoimmune Pulmonary Alveolar Proteinosis Patients Completed NCT03482752 Phase 3 Molgramostim
37 A Placebo-Controlled Trial of Intravenous Immunoglobulin (IVIG) for PANDAS (Pediatric Autoimmune Neuropsychiatric Disorders Associated With Streptococcal Infections) Completed NCT01281969 Phase 3 Gamunex Intravenous Immunoglobulin;Placebo
38 A Golimumab Phase 3b, Multicenter, Switch Assessment of Subcutaneous and Intravenous Efficacy in Rheumatoid Arthritis Patients Who Have Inadequate Disease Control Despite Treatment With Etanercept (ENBREL) or Adalimumab (HUMIRA) Completed NCT01004432 Phase 3 Golimumab 50 mg SC;Golimumab 2 mg/kg IV;Methotrexate (MTX);Placebo SC;Placebo IV
39 Double-Blind, Parallel-group Comparison, Investigators Initiated Phase II Clinical Trial of IDEC-C2B8 (Rituximab) in Patients With Systemic Sclerosis Completed NCT04274257 Phase 2, Phase 3 Double-Blind Placebo;Double-Blind Rituximab
40 Study on Combined Immunotherapy and Targeted Therapy for Advanced Liver Cancer Recruiting NCT04163237 Phase 3 PD-1;Sorafenib
41 COVID-19 Vaccine in Immunosuppressed Adults With Autoimmune Diseases Recruiting NCT04806113 Phase 3
42 A Randomized, Double-blind, Placebo-controlled Clinical Trial of Once-daily Inhaled Molgramostim Nebulizer Solution in Adult Subjects With Autoimmune Pulmonary Alveolar Proteinosis (aPAP) Not yet recruiting NCT04544293 Phase 3 Molgramostim;Placebo
43 OPV116910: A Randomized, Double-Blind, Placebo-Controlled, Parallel-Group Study to Investigate the Efficacy and Safety of Ofatumumab Injection for Subcutaneous Use in Subjects With Pemphigus Vulgaris Terminated NCT01920477 Phase 3
44 Autologous Hematopoietic Stem Cell Transplant for Patients With Systemic Sclerosis and Cardiac Dysfunction Terminated NCT03593902 Phase 2, Phase 3 Rituximab;Fludarabine;Cyclophosphamide;Mesna;rATG;Methylprednisolone;G-CSF
45 Will Hydroxychloroquine Impede or Prevent COVID-19: WHIP COVID-19 Study Terminated NCT04341441 Phase 3 Hydroxychloroquine - Daily Dosing;Hydroxychloroquine - Weekly Dosing
46 A Phase 3b, Multicenter, Open-Label Study to Evaluate the Long-Term Safety and Efficacy of Subcutaneous LY2127399 in Participants With Systemic Lupus Erythematosus (SLE) (Illuminate-X) Terminated NCT01488708 Phase 3 LY2127399;Placebo
47 Autologous Hematopoietic Stem Cell Transplant for Neuromyelitis Optica Spectrum Disorder (NMOSD) Withdrawn NCT03829566 Phase 2, Phase 3 Rituximab;Cyclophosphamide;Mesna;rATG;Methylprednisolone;G-CSF
48 Phase I/II Open-Label Monocentric Clinical Trial for Induction of Tolerance With CD34-Enriched Autologous Hematopoietic Stem Cell Transplantation After High-Dose Chemotherapy With Cyclophosphamide and Rabbit-Antithymocyte Globulin for Refractory Autoimmune Diseases Unknown status NCT00742300 Phase 1, Phase 2
49 Phase 1 Clinical Trial Using Regulatory T Cells as Individualized Medicine to Evaluate the Safety and Efficacy in Autoimmune Hepatitis Unknown status NCT02704338 Phase 1, Phase 2
50 A Randomized Trial of Treatment in Patients With IgG4-Related Disease Unknown status NCT02458196 Phase 2 Prednisone;Prednisone and Mycophenolate mofetil

Search NIH Clinical Center for Autoimmune Disease

Inferred drug relations via UMLS 70 / NDF-RT 51 :

methylprednisolone acetate
Methylprednisolone Sodium Succinate

Genetic Tests for Autoimmune Disease

Genetic tests related to Autoimmune Disease:

# Genetic test Affiliating Genes
1 Autoimmune Disease 29

Anatomical Context for Autoimmune Disease

MalaCards organs/tissues related to Autoimmune Disease:

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

Publications for Autoimmune Disease

Articles related to Autoimmune Disease:

(show top 50) (show all 56609)
# Title Authors PMID Year
Clustering of non-major histocompatibility complex susceptibility candidate loci in human autoimmune diseases. 57 61
9707586 1998
Classification of experimental data for genetic analysis in autoimmune disease. 61 57
3337106 1988
Evidence that autoimmunity in man is a Mendelian dominant trait. 61 57
3098096 1986
Primary Sjögren's syndrome and other autoimmune diseases in families. Prevalence and immunogenetic studies in six kindreds. 61 57
6437309 1984
Genetic factors predisposing to autoimmune diseases. Autoimmune hemolytic anemia, chronic thrombocytopenic purpura, and systemic lupus erythematosus. 57 61
6756137 1982
H gene theory of inherited autoimmune disease. 57 61
6101848 1980
Mapping the major susceptibility loci for familial Graves' and Hashimoto's diseases: evidence for genetic heterogeneity and gene interactions. 57
10599734 1999
Pediatric and adult forms of type I autoimmune hepatitis in Argentina: evidence for differential genetic predisposition. 57
10573514 1999
Familial polyarteritis nodosa. 57
7914412 1994
On genetic components in autoimmunity: a critical review based on evolutionarily oriented rationality. 57
1483686 1992
Familial polyarteritis nodosa: a serologic and immunogenetic analysis. 57
2568486 1989
Evidence that autoimmunity in man is a Mendelian dominant trait. 57
3337107 1988
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. 57
3484749 1986
[Familial autoimmune pathology comprising 2 cases of primary biliary cirrhosis]. 57
6578990 1983
Hereditary autoimmune thrombocytopenic purpura: an immunologic and genetic study. 57
7195175 1981
The genetic lesions of autoimmunity. 57
6769621 1980
Hereditary aspects of autoimmune hemolytic anemia; a retrospective analysis. 57
5660845 1968
14158527 1964
Prevalence of anti-dense fine speckled 70 antibodies in healthy individuals and patients with antinuclear antibody-associated autoimmune rheumatic diseases in Japan. 42
33655922 2021
Point of view on the vaccination against COVID-19 in patients with autoimmune inflammatory rheumatic diseases. 42
33627440 2021
Genetic determinants of risk in autoimmune pulmonary alveolar proteinosis. 42
33589587 2021
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
Targeting SDF-1/CXCL12 with a ligand that prevents activation of CXCR4 through structure-based drug design. 54 61
20459090 2010
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. 61 54
20167631 2010
Functional signaling of membrane-bound TL1A induces IFN-gamma expression. 61 54
20403353 2010
Allele and haplotype frequency distribution in PTPN22 gene across variable ethnic groups: Implications for genetic association studies for autoimmune diseases. 54 61
20166877 2010
IL-9: basic biology, signaling pathways in CD4+ T cells and implications for autoimmunity. 54 61
20020328 2010
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. 61 54
19963070 2010
American Chemical Society-239th national meeting--Investigating new therapeutic candidates: part 2. 21-25 March 2010, San Francisco, CA, USA. 61 54
20432181 2010
The ROQUIN family of proteins localizes to stress granules via the ROQ domain and binds target mRNAs. 54 61
20412057 2010
STAT4 gene influences genetic predisposition to ulcerative colitis but not Crohn's disease in the Spanish population: a replication study. 61 54
20153791 2010
ST2: a novel biomarker for heart failure. 54 61
20465500 2010
HLA and CTLA4 polymorphisms may confer a synergistic risk in the susceptibility to Graves' disease. 54 61
20300120 2010
Genetic risk factors in lupus nephritis and IgA nephropathy--no support of an overlap. 54 61
20479942 2010
Interleukin-17 and its expanding biological functions. 54 61
20383173 2010
Evaluation of 6 candidate genes on chromosome 11q23 for coeliac disease susceptibility: a case control study. 61 54
20478055 2010
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
The cytokine milieu in the interplay of pathogenic Th1/Th17 cells and regulatory T cells in autoimmune disease. 61 54
20383174 2010
Expression of IFNalpha-inducible genes and modulation of HLA-DR and thyroid stimulating hormone receptors in Graves' disease. 61 54
20015465 2010
The +49A>G CTLA-4 polymorphism is associated with rheumatoid arthritis in Mexican population. 54 61
20138855 2010
Novel sequence variation of AIRE and detection of interferon-omega antibodies in early infancy. 54 61
19863576 2010
Immunoglobulin heavy chain variable region genes contribute to the induction of thyroid-stimulating antibodies in recombinant inbred mice. 54 61
20407472 2010
IL-21 regulates Th17 cells in rheumatoid arthritis. 54 61
20079789 2010
Sequential intramolecular epitope spreading of humoral responses to human BPAG2 in a transgenic model. 61 54
19812601 2010
Immune responses to Epstein-Barr virus in individuals with systemic and organ specific autoimmune disorders. 54 61
20404456 2010
Potential role of interleukin-17 in the pathogenesis of bullous pemphigoid. 61 54
19945799 2010
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
Type I interferon therapy and its role in autoimmunity. 61 54
20298125 2010
The interferon-inducible HIN-200 gene family in apoptosis and inflammation: implication for autoimmunity. 54 61
20187706 2010
9-Deazaguanine derivatives connected by a linker to difluoromethylene phosphonic acid are slow-binding picomolar inhibitors of trimeric purine nucleoside phosphorylase. 61 54
20193043 2010

Variations for Autoimmune Disease

ClinVar genetic disease variations for Autoimmune Disease:

# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CEL NM_001807.5(CEL):c.1966G>C (p.Ala656Pro) SNV Uncertain significance 128688 rs587780309 GRCh37: 9:135946855-135946855
GRCh38: 9:133071468-133071468

Copy number variations for Autoimmune Disease from CNVD:

# CNVD ID Chromosome Start End Type Gene Symbol CNVD Disease
1 208909 6 211050653 211252076 Copy number CYP21A2 Autoimmune disease
2 210508 6 30400000 36600000 Copy number CYP21A1P Autoimmune disease
3 210509 6 30400000 36600000 Copy number TNXA Autoimmune disease
4 211044 6 3197570 32111174 Copy number C4A Autoimmune disease
5 211046 6 3197570 32111174 Copy number C4B 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

Expression for Autoimmune Disease

Search GEO for disease gene expression data for Autoimmune Disease.

Pathways for Autoimmune Disease

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

(show all 28)
# Super pathways Score Top Affiliating Genes
Show member pathways
Show member pathways
Show member pathways
Show member pathways
Show member pathways
Show member pathways
Show member pathways
Show member pathways
Show member pathways
11 11.85 TNF STAT3 IL17A IL10
Show member pathways
11.77 STAT3 IL17A IFNG
13 11.67 TNF IL10 IFNG
14 11.66 TNF IL17A IL10 IFNG
15 11.65 ZAP70 PTPN22 CTLA4
Show member pathways
Show member pathways
19 11.54 TNF STAT3 IFNG
20 11.52 TNFSF13B TNF IL10 CTLA4
21 11.47 TNF IL10 IFNG
22 11.45 TNF STAT3 IL10
23 11.29 TNF IL10 IFNG
Show member pathways
11.27 TNF IL10 IFNG
25 11.24 TNF STAT3 IL10
Show member pathways
27 11.19 TNF IL17A IFNG
28 11.12 TNF IL10 IFNG

GO Terms for Autoimmune Disease

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

(show all 29)
# Name GO ID Score Top Affiliating Genes
1 adaptive immune response GO:0002250 10.01 ZAP70 IL17A IFNG HLA-A CTLA4
2 inflammatory response GO:0006954 9.97 TNF STAT3 NLRP1 ITCH IL17A
3 T cell receptor signaling pathway GO:0050852 9.84 ZAP70 PTPN22 HLA-A CTLA4
4 positive regulation of tumor necrosis factor production GO:0032760 9.81 STAT3 IL17A IFNG
5 response to organic substance GO:0010033 9.81 TNF STAT3 IL10
6 negative regulation of interleukin-6 production GO:0032715 9.78 TNF PTPN22 IL10
7 positive regulation of tyrosine phosphorylation of STAT protein GO:0042531 9.77 TNF STAT3 IFNG
8 positive regulation of interferon-gamma production GO:0032729 9.76 TNF PTPN22 HLA-A
9 immune system process GO:0002376 9.76 ZAP70 TNFSF13B PTPN22 NLRP1 ITCH IL17A
10 humoral immune response GO:0006959 9.75 TNF IFNG AIRE
11 positive regulation of cytokine production GO:0001819 9.73 TNF IL10 IFNG
12 negative regulation of autophagy GO:0010507 9.7 STAT3 PTPN22 IL10
13 positive regulation of pri-miRNA transcription by RNA polymerase II GO:1902895 9.65 TNF STAT3 IL10
14 positive regulation of signaling receptor activity GO:2000273 9.64 IL10 IFNG
15 negative regulation of amyloid-beta clearance GO:1900222 9.63 TNF IFNG
16 positive regulation of MHC class II biosynthetic process GO:0045348 9.62 IL10 IFNG
17 negative thymic T cell selection GO:0045060 9.62 ZAP70 AIRE
18 endothelial cell apoptotic process GO:0072577 9.59 TNF IL10
19 positive regulation of interleukin-6 production GO:0032755 9.56 TNF STAT3 IL17A IFNG
20 negative regulation of cytokine production involved in immune response GO:0002719 9.55 TNF IL10
21 positive regulation of cytokine production involved in inflammatory response GO:1900017 9.54 TNF STAT3 IL17A
22 positive regulation of interleukin-23 production GO:0032747 9.51 IL17A IFNG
23 positive regulation of osteoclast differentiation GO:0045672 9.5 TNF IL17A IFNG
24 positive regulation of CD8-positive, alpha-beta T cell proliferation GO:2000566 9.49 PTPN22 HLA-A
25 positive regulation of calcidiol 1-monooxygenase activity GO:0060559 9.46 TNF IFNG
26 positive regulation of vitamin D biosynthetic process GO:0060557 9.43 TNF IFNG
27 positive regulation of nitrogen compound metabolic process GO:0051173 9.4 TNF IFNG
28 positive regulation of interleukin-1 beta production GO:0032731 9.35 TNF STAT3 NLRP1 IL17A IFNG
29 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 for Autoimmune Disease

9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
31 HPO
32 ICD10
33 ICD10 via Orphanet
37 LifeMap
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
69 Tocris
71 UMLS via Orphanet
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