SJS
MCID: SVR097
MIFTS: 69

Severe Cutaneous Adverse Reaction (SJS)

Categories: Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Severe Cutaneous Adverse Reaction

MalaCards integrated aliases for Severe Cutaneous Adverse Reaction:

Name: Severe Cutaneous Adverse Reaction 56 37 17
Stevens-Johnson Syndrome 56 12 74 58 73 36 54 43 15 17 71
Toxic Epidermal Necrolysis 56 58 73 54 6 17 71
Susceptibility to Severe Cutaneous Adverse Reaction 29 6 39
Hypersensitivity Syndrome, Carbamazepine-Induced, Susceptibility to 56 13
Stevens-Johnson Syndrome Toxic Epidermal Necrolysis Spectrum 71
Stevens-Johnson Syndrome/toxic Epidermal Necrolysis Spectrum 58
Severe Cutaneous Adverse Reaction, Susceptibility to 56
Hypersensitivity Syndrome, Carbamazepine-Induced 56
Toxic Epidermal Necrolysis, Susceptibility to 56
Stevens-Johnson Syndrome, Susceptibility to 56
Dermatostomatitis, Stevens Johnson Type 58
Dermatostomatitis Stevens Johnson Type 73
Drug-Induced Stevens Johnson Syndrome 71
Toxic Epidermolysis 58
Lyell Syndrome 58
Sjs-Ten 58
Sjs 73
Ten 73

Characteristics:

Orphanet epidemiological data:

58
toxic epidermal necrolysis
Inheritance: Not applicable; Age of onset: All ages;
stevens-johnson syndrome
Inheritance: Not applicable; Age of onset: All ages;
stevens-johnson syndrome/toxic epidermal necrolysis spectrum
Inheritance: Not applicable; Age of onset: All ages;

Classifications:

Orphanet: 58  
Rare skin diseases


External Ids:

Disease Ontology 12 DOID:0050426
OMIM 56 608579
KEGG 36 H01694
ICD9CM 34 695.13 695.15
MeSH 43 D013262
ICD10 32 L51.1 L51.2
MESH via Orphanet 44 D004816 D013262
ICD10 via Orphanet 33 L51.1 L51.2
UMLS via Orphanet 72 C0014518 C0038325
UMLS 71 C0014518 C0038325 C1274933 more

Summaries for Severe Cutaneous Adverse Reaction

KEGG : 36 Stevens Johnson syndrome (SJS) and toxic epidermal necrolysis (TEN) are severe acute mucocutaneous diseases. The early stage of the disease is characterized by red-purple maculopapular eruptions. Then epidermal separation occurs and vesicles and bullae are formed. Inflammatory changes including purulent conjunctivitis, erosion, ulcer and crusts may be observed in the eye, mouth, nose, pharynx, esophagus, trachea, gastrointestinal tract, urinary tract and genital mucosae. Life-threatening bleeding and infections may be observed as a result of these changes. The rates of severe complications or sequelae secondary to SJS and TEN are higher in patients with mucosal and ophthalmic involvement. The SJS and TEN are considered the same disease process, and the distinction is made based on body surface area involvement. The SJS is characterized by less than 10% of the body surface area of epidermal detachment, and TEN by more than 30%. Various etiologic factors have been implicated as causes of SJS-TEN. These include infection, vaccination, drugs, systemic diseases, physical agents, and food. Drugs are the most commonly blamed. It has been reported that SJS-TEN is strongly associated with the specific variants of the human leukocyte antigen HLA-A and HLA-B genes. There is still no consensus on a definite treatment method for SJS-TEN. Systemic steroids and IVIG are used most frequently in medical treatment and treatment options including cyclosporine, plasmapheresis and hemodialysis are required more rarely.

MalaCards based summary : Severe Cutaneous Adverse Reaction, also known as stevens-johnson syndrome, is related to stevens-johnson syndrome/toxic epidermal necrolysis and erythema multiforme. An important gene associated with Severe Cutaneous Adverse Reaction is HLA-B (Major Histocompatibility Complex, Class I, B), and among its related pathways/superpathways are Human cytomegalovirus infection and Measles. The drugs Clotrimazole and Miconazole have been mentioned in the context of this disorder. Affiliated tissues include skin, eye and testes, and related phenotypes are polydipsia and fatigue

Disease Ontology : 12 A skin disease that is characterized by ulceration of less than 10 percent of the surface area of the body. The disease is often precipitated by the use of medications, such as antibiotics or antiepileptics, or onset of infection.

UniProtKB/Swiss-Prot : 73 Stevens-Johnson syndrome: A rare blistering mucocutaneous disease that share clinical and histopathologic features with toxic epidermal necrolysis. Both disorders are characterized by high fever, malaise, and a rapidly developing blistering exanthema of macules and target-like lesions accompanied by mucosal involvement. Stevens-Johnson syndrome is a milder disease characterized by destruction and detachment of the skin epithelium and mucous membranes involving less than 10% of the body surface area. Ocular symptoms include ulcerative conjunctivitis, keratitis, iritis, uveitis and sometimes blindness. It can be caused by a severe adverse reaction to particular types of medication, although Mycoplasma infections may induce some cases.

Wikipedia : 74 Stevens-Johnson syndrome (SJS) is a type of severe skin reaction. Together with toxic epidermal... more...

More information from OMIM: 608579

Related Diseases for Severe Cutaneous Adverse Reaction

Diseases related to Severe Cutaneous Adverse Reaction via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 716)
# Related Disease Score Top Affiliating Genes
1 stevens-johnson syndrome/toxic epidermal necrolysis 33.6 PSORS1C1 IKZF1 HLA-C HLA-B HLA-A FAS
2 erythema multiforme 32.0 GZMB GNLY FASLG FAS
3 graft-versus-host disease 31.7 HLA-C HLA-B HLA-A GZMB FASLG FAS
4 skin disease 31.6 TGM1 HLA-C HLA-B CD8A CD4
5 paraneoplastic pemphigus 31.6 HLA-C HLA-B HLA-A
6 immune deficiency disease 31.5 HLA-B HLA-A FASLG FAS CD4
7 pancytopenia 31.3 PRF1 IKZF1 CD8A CD4
8 rubella 31.1 HLA-C HLA-B HLA-A
9 cytomegalovirus infection 31.1 HLA-B HLA-A FAS
10 phenytoin allergy 31.1 HSPG2 GNLY
11 variola major 31.0 CD8A CD4
12 human immunodeficiency virus type 1 31.0 HLA-C HLA-B HLA-A CYP2D6 CD4
13 hemophagocytic lymphohistiocytosis 31.0 PRF1 GZMB GNLY FAS
14 psoriasis 31.0 TGM1 PSORS1C1 HLA-C HLA-B HLA-A CD4
15 myeloma, multiple 30.9 PRF1 IKZF1 GZMB FASLG FAS CD8A
16 t-cell lymphoblastic leukemia/lymphoma 30.9 IKZF1 FASLG FAS CD4
17 lennox-gastaut syndrome 30.9 PPIG CYP2C9 CYP2C19
18 hantavirus hemorrhagic fever with renal syndrome 30.9 GZMB CD8A CD4
19 viral infectious disease 30.9 HLA-B HLA-A GZMB FAS CD4
20 syphilis 30.9 HLA-C FAS CD8A CD4
21 autoimmune disease 30.9 PRF1 HLA-B HLA-A FASLG FAS
22 corneal disease 30.8 KRT3 CD8A CD4
23 drug-induced hepatitis 30.8 CYP2D6 CYP2C9 CYP2C19
24 spongiotic dermatitis 30.8 CD8A CD4
25 aplastic anemia 30.8 PRF1 HLA-B HLA-A FASLG FAS CD4
26 lymphoma, non-hodgkin, familial 30.8 PRF1 IKZF1 HLA-A GZMB FAS CD8A
27 tardive dyskinesia 30.8 HSPG2 CYP2D6
28 cicatricial entropion 30.8 KRT3 HSPG2
29 autoimmune hepatitis 30.8 HLA-A FAS CYP2D6
30 dacryoadenitis 30.7 HSPG2 CD8A CD4
31 xerophthalmia 30.7 HSPG2 CD8A CD4
32 diabetes mellitus, type i 30.7 HSPG2 HLA-B HLA-A FASLG CD8A CD4
33 alopecia areata 30.7 HLA-C HLA-B HLA-A GZMB FASLG
34 graves' disease 30.6 HLA-B HLA-A FASLG FAS
35 secondary syphilis 30.6 CD8A CD4
36 herpes zoster 30.6 HLA-B HLA-A CD8A CD4
37 leprosy 3 30.6 GNLY CD8A CD4
38 vogt-koyanagi-harada disease 30.5 HLA-C HLA-B HLA-A FAS CD8A
39 pulmonary disease, chronic obstructive 30.4 PPIG GZMB CYP2D6 CD8A CD4
40 thrombocytopenia 30.4 PRF1 HLA-B HLA-A GZMB FASLG FAS
41 schwartz-jampel syndrome, type 1 12.5
42 ritter's disease 12.0
43 5-oxoprolinase deficiency 11.5
44 auditory neuropathy spectrum disorder 11.5
45 stevens-johnson syndrome/toxic epidermal necrolysis overlap syndrome 11.2
46 sjogren syndrome 11.2
47 swyer-james syndrome 11.2
48 erythema multiforme major 10.8
49 x-linked intellectual disability-macrocephaly-macroorchidism syndrome 10.8
50 lupus erythematosus 10.7

Graphical network of the top 20 diseases related to Severe Cutaneous Adverse Reaction:



Diseases related to Severe Cutaneous Adverse Reaction

Symptoms & Phenotypes for Severe Cutaneous Adverse Reaction

Human phenotypes related to Severe Cutaneous Adverse Reaction:

58 31 (show top 50) (show all 96)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 polydipsia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001959
2 fatigue 58 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%),Very frequent (99-80%) HP:0012378
3 fever 58 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0001945
4 dysphagia 58 31 frequent (33%) Frequent (79-30%),Very frequent (99-80%) HP:0002015
5 weight loss 58 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0001824
6 abnormal blistering of the skin 58 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%),Very frequent (99-80%) HP:0008066
7 erythema 58 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0010783
8 macule 58 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0012733
9 nausea and vomiting 58 31 hallmark (90%) Very frequent (99-80%),Occasional (29-5%) HP:0002017
10 thrombocytopenia 58 31 occasional (7.5%) Occasional (29-5%),Very frequent (99-80%) HP:0001873
11 neutropenia 58 31 hallmark (90%) Very frequent (99-80%),Occasional (29-5%) HP:0001875
12 sepsis 58 31 occasional (7.5%) Occasional (29-5%),Very frequent (99-80%),Very rare (<4-1%) HP:0100806
13 diarrhea 58 31 hallmark (90%) Very frequent (99-80%),Occasional (29-5%) HP:0002014
14 acantholysis 58 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%),Frequent (79-30%) HP:0100792
15 conjunctival hyperemia 58 31 hallmark (90%) Very frequent (99-80%) HP:0030953
16 recurrent respiratory infections 58 31 occasional (7.5%) Occasional (29-5%),Frequent (79-30%) HP:0002205
17 malabsorption 58 31 frequent (33%) Frequent (79-30%) HP:0002024
18 anemia 58 31 occasional (7.5%) Occasional (29-5%),Frequent (79-30%),Frequent (79-30%) HP:0001903
19 skin rash 58 31 frequent (33%) Frequent (79-30%) HP:0000988
20 skin ulcer 58 31 occasional (7.5%) Occasional (29-5%),Frequent (79-30%) HP:0200042
21 abdominal pain 58 31 occasional (7.5%) Occasional (29-5%),Frequent (79-30%) HP:0002027
22 myalgia 58 31 frequent (33%) Frequent (79-30%) HP:0003326
23 cough 58 31 occasional (7.5%) Occasional (29-5%),Frequent (79-30%),Frequent (79-30%) HP:0012735
24 anxiety 58 31 frequent (33%) Frequent (79-30%) HP:0000739
25 elevated hepatic transaminase 58 31 occasional (7.5%) Occasional (29-5%),Frequent (79-30%),Frequent (79-30%) HP:0002910
26 atypical scarring of skin 58 31 frequent (33%) Frequent (79-30%) HP:0000987
27 anorexia 58 31 frequent (33%) Frequent (79-30%) HP:0002039
28 headache 58 31 frequent (33%) Frequent (79-30%) HP:0002315
29 abnormality of neutrophils 58 31 frequent (33%) Frequent (79-30%) HP:0001874
30 keratoconjunctivitis sicca 58 31 frequent (33%) Frequent (79-30%) HP:0001097
31 dysuria 58 31 occasional (7.5%) Occasional (29-5%),Frequent (79-30%),Occasional (29-5%) HP:0100518
32 respiratory distress 58 31 occasional (7.5%) Occasional (29-5%),Frequent (79-30%) HP:0002098
33 excessive salivation 58 31 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0003781
34 oral-pharyngeal dysphagia 58 31 frequent (33%) Frequent (79-30%) HP:0200136
35 rhinitis 58 31 frequent (33%) Frequent (79-30%) HP:0012384
36 oral mucosal blisters 58 31 frequent (33%) Frequent (79-30%) HP:0200097
37 hyperpigmentation of the skin 58 31 frequent (33%) Frequent (79-30%) HP:0000953
38 genital blistering 58 31 frequent (33%) Frequent (79-30%) HP:0031464
39 pharyngitis 58 31 frequent (33%) Frequent (79-30%) HP:0025439
40 abnormal bronchus morphology 58 31 frequent (33%) Frequent (79-30%) HP:0025426
41 generalized abnormality of skin 58 31 occasional (7.5%) Occasional (29-5%) HP:0011354
42 visual impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0000505
43 photophobia 58 31 occasional (7.5%) Occasional (29-5%),Occasional (29-5%),Occasional (29-5%) HP:0000613
44 renal insufficiency 58 31 occasional (7.5%) Occasional (29-5%),Occasional (29-5%) HP:0000083
45 dyspnea 58 31 occasional (7.5%) Occasional (29-5%) HP:0002094
46 xerostomia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000217
47 hematuria 58 31 occasional (7.5%) Occasional (29-5%) HP:0000790
48 abnormal myocardium morphology 58 31 occasional (7.5%) Occasional (29-5%),Occasional (29-5%) HP:0001637
49 myocardial infarction 58 31 occasional (7.5%) Occasional (29-5%) HP:0001658
50 restrictive ventilatory defect 58 31 occasional (7.5%) Occasional (29-5%),Occasional (29-5%) HP:0002091

Clinical features from OMIM:

608579

GenomeRNAi Phenotypes related to Severe Cutaneous Adverse Reaction according to GeneCards Suite gene sharing:

26 (show all 29)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-103 10.76 HLA-A HLA-B HLA-C
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-110 10.76 HLA-A HLA-B HLA-C
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-14 10.76 HLA-C
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-156 10.76 HLA-A HLA-B HLA-C
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-178 10.76 HLA-A HLA-B HLA-C
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-181 10.76 PRF1
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-19 10.76 HLA-A HLA-B HLA-C
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-202 10.76 HLA-C
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-27 10.76 PRF1
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-31 10.76 HLA-A HLA-B HLA-C
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-50 10.76 PRF1
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-52 10.76 PRF1
13 Decreased shRNA abundance (Z-score < -2) GR00366-A-7 10.76 HLA-A HLA-B HLA-C
14 Decreased shRNA abundance (Z-score < -2) GR00366-A-71 10.76 PRF1
15 Decreased shRNA abundance (Z-score < -2) GR00366-A-91 10.76 HLA-C
16 Decreased shRNA abundance (Z-score < -2) GR00366-A-95 10.76 HLA-C
17 Increased shRNA abundance (Z-score > 2) GR00366-A-118 9.86 HLA-A HLA-B HLA-C
18 Increased shRNA abundance (Z-score > 2) GR00366-A-124 9.86 HLA-C
19 Increased shRNA abundance (Z-score > 2) GR00366-A-14 9.86 CD4
20 Increased shRNA abundance (Z-score > 2) GR00366-A-147 9.86 CD4
21 Increased shRNA abundance (Z-score > 2) GR00366-A-149 9.86 HLA-C
22 Increased shRNA abundance (Z-score > 2) GR00366-A-160 9.86 CD4
23 Increased shRNA abundance (Z-score > 2) GR00366-A-162 9.86 HLA-C
24 Increased shRNA abundance (Z-score > 2) GR00366-A-19 9.86 CD4
25 Increased shRNA abundance (Z-score > 2) GR00366-A-32 9.86 CD4
26 Increased shRNA abundance (Z-score > 2) GR00366-A-47 9.86 HLA-C
27 Increased shRNA abundance (Z-score > 2) GR00366-A-74 9.86 HLA-A HLA-B HLA-C
28 Increased shRNA abundance (Z-score > 2) GR00366-A-93 9.86 HLA-C
29 Reduced mammosphere formation GR00396-S 9.17 CYP2B6 CYP2C9 FAS FASLG HLA-C HSPG2

Drugs & Therapeutics for Severe Cutaneous Adverse Reaction

Drugs for Severe Cutaneous Adverse Reaction (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 130)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Clotrimazole Approved, Vet_approved Phase 4 23593-75-1 2812
2
Miconazole Approved, Investigational, Vet_approved Phase 4 22916-47-8 4189
3
Bezafibrate Approved, Investigational Phase 4 41859-67-0 39042
4
Gabapentin Approved, Investigational Phase 4 60142-96-3 3446
5
Nevirapine Approved Phase 4 129618-40-2 4463
6
Stavudine Approved, Investigational Phase 4 3056-17-5 18283
7
Lamivudine Approved, Investigational Phase 4 134678-17-4 60825
8
Phenytoin Approved, Vet_approved Phase 4 57-41-0 1775
9
Sargramostim Approved, Investigational Phase 4 83869-56-1, 123774-72-1
10
Lidocaine Approved, Vet_approved Phase 4 137-58-6 3676
11
Sotalol Approved Phase 4 3930-20-9, 959-24-0 5253
12 Molgramostim Investigational Phase 4 99283-10-0
13 Immunologic Factors Phase 4
14 Cyclosporins Phase 4
15 Analgesics, Non-Narcotic Phase 4
16 Immunosuppressive Agents Phase 4
17 Analgesics Phase 4
18 Dermatologic Agents Phase 4
19 Anticonvulsants Phase 4
20 Antifungal Agents Phase 4
21 Calcineurin Inhibitors Phase 4
22 Pharmaceutical Solutions Phase 4
23 Ophthalmic Solutions Phase 4
24 Hypolipidemic Agents Phase 4
25 Lipid Regulating Agents Phase 4
26 Antimetabolites Phase 4
27 Psychotropic Drugs Phase 4
28 Analgesics, Opioid Phase 4
29 Excitatory Amino Acid Antagonists Phase 4
30 Anti-Anxiety Agents Phase 4
31 Sodium Channel Blockers Phase 4
32 Anti-Arrhythmia Agents Phase 4
33 Diuretics, Potassium Sparing Phase 4
34 Adrenergic Agents Phase 4
35 Adrenergic Antagonists Phase 4
36 Sympatholytics Phase 4
37 Adrenergic beta-Antagonists Phase 4
38 Neurotransmitter Agents Phase 4
39
Pioglitazone Approved, Investigational Phase 3 111025-46-8 4829
40
Sirolimus Approved, Investigational Phase 3 53123-88-9 5284616 6436030 46835353
41
Lesinurad Approved, Investigational Phase 3 878672-00-5 53465279
42
Efavirenz Approved, Investigational Phase 3 154598-52-4 64139
43
Etravirine Approved Phase 3 269055-15-4 193962
44
Prednisolone phosphate Approved, Vet_approved Phase 2, Phase 3 302-25-0
45
Methylprednisolone Approved, Vet_approved Phase 2, Phase 3 83-43-2 6741
46
Methylprednisolone hemisuccinate Approved Phase 2, Phase 3 2921-57-5
47
tannic acid Approved Phase 2, Phase 3 1401-55-4
48 Prednisolone acetate Approved, Vet_approved Phase 2, Phase 3 52-21-1
49
Prednisolone Approved, Vet_approved Phase 2, Phase 3 50-24-8 5755
50
Benzocaine Approved, Investigational Phase 2, Phase 3 94-09-7, 1994-09-7 2337

Interventional clinical trials:

(show top 50) (show all 61)
# Name Status NCT ID Phase Drugs
1 Efficacy of 0.05% Cyclosporin Eye Drop in Stevens Johnson Syndrome Patient With Chronic Dry Eye Completed NCT01488396 Phase 4 0.05%cyclosporin eye drop
2 Early Effect Of Bezafibrate On Fibrinogen Levels, Inflammatory Response And Clinical Impact, In Patients With ST Elevation Acute Myocardial Infarction Completed NCT02291796 Phase 4 Bezafibrate
3 A Prospective, Randomized, Placebo-controlled Trial of Pre-transplant and Prompt Post-transplant Treatment With Azithromycin to Improve Early Allograft Function and Outcome After Lung Transplantation Completed NCT01915082 Phase 4 Azithromycin;Ora-Plus
4 A Multi-center, Double-blinded Randomized Trial for Genotype Based Personalized Prescription of Nevirapine Completed NCT00986063 Phase 4
5 Pain Control in Pediatric Posterior Spine Fusion Patients: The Effect of Gabapentin on Post-operative Opioid Use and Patient Satisfaction Completed NCT01977937 Phase 4 Gabapentin 250mg/5mL NDC:59762-5025-01;Simple Syrup
6 Phenytoin as an Augmentation for SSRI Failures: A Controlled Study Completed NCT00146237 Phase 4 phenytoin
7 Evaluation of G-CSF as a Treatment of Toxic Epidermal Necrolysis Recruiting NCT02739295 Phase 4 recombinant granulocyte - colony stimulating factor;NaCl 0.9%
8 Transdermal Lidocaine Patch for Post-Cesarean Pain Control for Women With Obesity: a Single-blind Randomized Controlled Trial Active, not recruiting NCT03810235 Phase 4 Transdermal Lidocaine Patch;Transdermal Hydrocolloid Placebo Patch
9 A Prospective, Multi-Center, Randomized, Open Label Trial to Determine if a Common Atrial Fibrillation Risk Locus Modulates Differential Response to Antiarrhythmic Drugs Not yet recruiting NCT02347111 Phase 4 Flecainide;Sotalol
10 Prevention of Coronary Artery in STENT Restenosis With the Combined Use of Pioglitazone and Sirolimus-Eluting Coronary Stent Unknown status NCT00376870 Phase 3 Pioglitazone;Placebo
11 NPB-01(Intravenous Immunoglobulin) Therapy for Patients With Stevens-Johnson Syndrome/ Toxic Epidermal Necrolysis Unresponsive to Corticosteroids. Completed NCT01696500 Phase 3 Intravenous immunoglobulin
12 Efficacy of Cultivated Corneal Epithelial Stem Cell for Ocular Surface Reconstruction Completed NCT01237600 Phase 2, Phase 3
13 Autologous ex Vivo Conjunctival Epithelial Cell Expansion for Ocular Surface Completed NCT00346450 Phase 3
14 A Phase 3 Randomized, Double-Blind, Multicenter, Placebo- Controlled Study to Assess the Efficacy and Safety of Lesinurad Monotherapy Compared to Placebo in Subjects With Gout and an Intolerance or Contraindication to a Xanthine Oxidase Inhibitor Completed NCT01508702 Phase 3 lesinurad;Placebo
15 A Phase III, Double Blind, Mulit-centre, Randomised Placebo Controlled, Pilot Study to Assess the Feasibility of Switching Individuals Receiving Efavirez With Continuing Central Nervous System (CNS) Toxicity to TMC125. Completed NCT00792324 Phase 3 Etravirine;Efavirenz
16 Randomised Evaluation of COVID-19 Therapy Recruiting NCT04381936 Phase 2, Phase 3 Lopinavir-Ritonavir;Corticosteroid;Hydroxychloroquine;Azithromycin;Tocilizumab
17 Maraviroc to Augment Rehabilitation Outcomes After Stroke Recruiting NCT03172026 Phase 2, Phase 3 Maraviroc 300 mg;Placebo 300 mg
18 NATIENS: A Phase III Randomized Double-Blinded Placebo Controlled Study to Determine the Optimal Management and Mechanisms of Stevens-Johnson Syndrome and Toxic Epidermal Necrolysis Not yet recruiting NCT02987257 Phase 3 Harmonized supportive care;Cyclosporine 5 mg/kg bid days 0-14;Etanercept 50 mg sc day 0 and day 3
19 Lamictal in the Treatment of Post-Herpetic Neuralgia-A Safety, Efficacy,Randomized, Double Blind, Placebo Controlled, Cross-Over Study Terminated NCT00295776 Phase 2, Phase 3 Lamictal in the treatment of Post-Herpetic Neuralgia
20 The Use of Riboflavin/Ultraviolet A Cross-linked Human Donor Corneas as Carriers for the Boston Keratoprosthesis Completed NCT01582880 Phase 1, Phase 2 Riboflavin
21 Evaluation the Effect of Amniotic Membrane Extract Eye Drop (AMEED) on Human Corneal Epithelium Healing (Phase I and II Clinical Trial) Completed NCT02746848 Phase 1, Phase 2
22 Comparison of Standard Versus Double Dose of Amoxicillin in the Treatment of Non-Severe Pneumonia in Children Aged 2-59 Months: A Multi-Centre Randomized Double Blind Controlled Trial in Pakistan Completed NCT00130013 Phase 1, Phase 2 Oral Amoxicillin
23 Palifermin Treatment of Toxic Epidermal Necrolysis Terminated NCT02037347 Phase 1, Phase 2 Palifermin
24 Pilot Study Comparing Remicade (Infliximab) vs. Standard Care in the Treatment of Toxic Epidermal Necrolysis Withdrawn NCT00372723 Phase 2 Remicaide (infliximab)
25 Topical Infliximab in Autoimmune Eyes With Keratoprosthesis Withdrawn NCT02126020 Phase 1, Phase 2 topical infliximab
26 Infliximab Therapy to Improve Retention of the Boston Keratoprosthesis in Patients After Stevens Johnson Syndrome/ Toxic Epidermal Necrolysis Withdrawn NCT01256489 Phase 1, Phase 2 Infliximab
27 A Randomized Placebo Controlled Split-body Double-blind Phase II Clinical Trial to Investigate the Safety and Efficacy of Clobetasol 0.05% Ointment for the Treatment of Toxic Epidermal Necrolysis (TEN) Withdrawn NCT02319616 Phase 1, Phase 2 Clobetasol 0.05% ointment;Placebo
28 Assessment of Fibrin Glue in Pterygium Surgery and Other Forms of Ocular Surface Reconstruction Completed NCT00344201 Phase 1
29 Topical Infliximab for the Treatment of Sterile Corneal Melt Recruiting NCT02987686 Phase 1 Topical Infliximab
30 Platelet Rich-plasma in Management of Chronic Multiple Oral Ulcers Not yet recruiting NCT03878771 Phase 1 Dermovate cream in Orabase
31 Serum Interleukin -21 Level in Patients With Severe Adverse Cutaneous Drug Reaction and Correlation With Disease Severity. Unknown status NCT03166241
32 Evaluating the Effect of Isotretinoin in Regulatory T-cell Function in Adverse Cutaneous Drug Eruptions (ACDEs): A Pilot Study Unknown status NCT02795143 Isotretinoin
33 A Prospective Study to Prove the Usefulness of HLA-B*5801 Screening Test for the Prevention of Allopurinol-induced Severe Cutaneous Adverse Reaction in Patient With Chronic Kidney Disease Unknown status NCT03046914
34 Drug Patch Tests, Enzyme-linked Immunosorbent Spot Assay (Elispot) and Lymphocyte Transformation Tests in Patients With Severe Cutaneous Adverse Reaction to Drugs (SCARs) Unknown status NCT03176342
35 Comparison of Corneal Epitheliotropic Factors in Autologous Serum Eye Drops Between Nonautoimmune Dry Eye and Stevens-Johnson Syndrome With Dry Eye Unknown status NCT01122303
36 The Use of Pentacam in Assessment of Corneal Changes After Pterygium Excision Unknown status NCT03304366
37 Comparison of the Blister Fluid Components of Second Degree Burned Patients With the Blister Fluid Components Following Intralesional Cryosurgery of Keloid Scars - A Feasibility Study. Unknown status NCT01627769
38 The Effect of Sitagliptin on Hypertension, Arterial Stiffness, Oxidative Stress and Inflammation Unknown status NCT00696982 sitagliptin;glibenclamide
39 Evaluation of TNF-α Blockade Effect in Patients With Severe Cutaneous Adverse Drug Reactions (SCAR) Completed NCT01276314 anti- TNF-a;Prednisolone
40 Salivary Gland and Labial Mucous Membrane Transplantation in the Treatment of Severe Symblepharon and Dry Eye in Patients With Stevens-Johnson Syndrome. Completed NCT01178242
41 Stevens-Johnson Syndrome Associated With Antimicrobial Completed NCT00844038
42 A Prospective Open-label, Multicenter Clinical Investigation to Assess the Safety and Performance of ARGOS-IO System in Patients Undergoing Implantation of a Boston Keratoprosthesis (BKPro) Completed NCT02945176
43 Using Cognitive Tests and Functional MRI to Investigate Long Term Cognitive Dysfunction Following a Critical Illness Due to a Major Burn Injury Completed NCT03470844
44 Evaluation of Immune Responses to Different Antigens in Non Infectious Ocular Inflammatory Diseases Completed NCT00357071
45 Bacteremia Antibiotic Length Actually Needed for Clinical Effectiveness: A Pilot RCT Completed NCT02261506
46 Safety and Effectiveness of a Laboratory Intervention to Effectively NOT Treat Asymptomatic Bacteriuria (SALIENT-A) Completed NCT03445312
47 Adverse Cutaneous Drug Reactions Collection of Clinical Data and Biological Samples Recruiting NCT03659227
48 Association of Cytokines With the Development of Complications in Burn and Toxic Epidermal Necrolysis (TENS) Patients Recruiting NCT04252651
49 HLA Screening in Reducing the Risk of Antiepileptic Drug-induced Cutaneous Adverse Reactions: a Multicenter Clinical Study Recruiting NCT03184597
50 The Multicenter Registry of Patients With Severe Cutaneous Adverse Reactions Among Tertiary Medical Institutes in Thailand Recruiting NCT02574988

Search NIH Clinical Center for Severe Cutaneous Adverse Reaction

Cell-based therapeutics:


LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database
Read about Severe Cutaneous Adverse Reaction cell therapies at LifeMap Discovery.
Stem-cell-based therapeutic approaches for Severe Cutaneous Adverse Reaction:
Cultivated corneal epithelial stem cells for treatment of ocular surface damage
Embryonic/Adult Cultured Cells Related to Severe Cutaneous Adverse Reaction:
Limbal corneal epithelial stem cells PMIDs: 23055668

Cochrane evidence based reviews: stevens-johnson syndrome

Genetic Tests for Severe Cutaneous Adverse Reaction

Genetic tests related to Severe Cutaneous Adverse Reaction:

# Genetic test Affiliating Genes
1 Susceptibility to Severe Cutaneous Adverse Reaction 29 HLA-A HLA-B

Anatomical Context for Severe Cutaneous Adverse Reaction

MalaCards organs/tissues related to Severe Cutaneous Adverse Reaction:

40
Skin, Eye, Testes, T Cells, Liver, Lung, Trachea

Publications for Severe Cutaneous Adverse Reaction

Articles related to Severe Cutaneous Adverse Reaction:

(show top 50) (show all 3537)
# Title Authors PMID Year
1
HLA-A 31:01 and HLA-B 15:02 as genetic markers for carbamazepine hypersensitivity in children. 61 6 56
23588310 2013
2
Carbamazepine-induced toxic effects and HLA-B*1502 screening in Taiwan. 61 56 6
21428768 2011
3
HLA-A*3101 and carbamazepine-induced hypersensitivity reactions in Europeans. 61 6 56
21428769 2011
4
Genetic susceptibility to carbamazepine-induced cutaneous adverse drug reactions. 61 56 6
16538176 2006
5
HLA-B*5801 allele as a genetic marker for severe cutaneous adverse reactions caused by allopurinol. 6 56 61
15743917 2005
6
Medical genetics: a marker for Stevens-Johnson syndrome. 56 61 6
15057820 2004
7
The spectrum of Stevens-Johnson syndrome and toxic epidermal necrolysis: a clinical classification. 6 56 61
8006430 1994
8
Clinical Pharmacogenetics Implementation Consortium Guideline for HLA Genotype and Use of Carbamazepine and Oxcarbazepine: 2017 Update. 6 61
29392710 2018
9
Recommendations for HLA-B*15:02 and HLA-A*31:01 genetic testing to reduce the risk of carbamazepine-induced hypersensitivity reactions. 6 61
24597466 2014
10
Clinical Pharmacogenetics Implementation Consortium guidelines for human leukocyte antigen-B genotype and allopurinol dosing. 6 61
23232549 2013
11
Granulysin is a key mediator for disseminated keratinocyte death in Stevens-Johnson syndrome and toxic epidermal necrolysis. 61 56
19029983 2008
12
Strong association between HLA-A*0206 and Stevens-Johnson syndrome in the Japanese. 56 61
17258541 2007
13
A marker for Stevens-Johnson syndrome ...: ethnicity matters. 56 61
16415921 2006
14
Risk of Stevens-Johnson syndrome and toxic epidermal necrolysis during first weeks of antiepileptic therapy: a case-control study. Study Group of the International Case Control Study on Severe Cutaneous Adverse Reactions. 61 56
10392983 1999
15
Inhibition of toxic epidermal necrolysis by blockade of CD95 with human intravenous immunoglobulin. 56 54
9774279 1998
16
Medication use and the risk of Stevens-Johnson syndrome or toxic epidermal necrolysis. 61 56
7477195 1995
17
Clinical classification of cases of toxic epidermal necrolysis, Stevens-Johnson syndrome, and erythema multiforme. 56 61
8420497 1993
18
Genetic susceptibility to toxic epidermal necrolysis. 56 61
3477129 1987
19
Etiologic factors of the Stevens-Johnson syndrome. 61 56
7375977 1980
20
Underexpression and overexpression of Fas and Fas ligand: a double-edged sword. 61 54
20408337 2010
21
Serum levels of the Th1 promoter IL-12 and the Th2 chemokine TARC are elevated in erythema multiforme and Stevens-Johnson syndrome/toxic epidermal necrolysis and correlate with soluble Fas ligand expression. An immunoenzymatic study from the Italian Group of Immunopathology. 61 54
17460400 2007
22
Phenotypic diversity in delayed drug hypersensitivity: an immunologic explanation. 61 54
17008937 2006
23
Serious skin reactions and selective COX-2 inhibitors: a case series from prescription-event monitoring in England. 61 54
16872242 2006
24
Clinical heterogeneity of drug hypersensitivity. 61 54
15767024 2005
25
Abnormal protein profiles in tears with dry eye syndrome. 61 54
12888052 2003
26
Toxic epidermal necrolysis and Stevens-Johnson syndrome are induced by soluble Fas ligand. 61 54
12707034 2003
27
Delayed reactions to drugs show levels of perforin, granzyme B, and Fas-L to be related to disease severity. 54 61
11799383 2002
28
[Erythema multiforme. A heterogeneous pathologic phenotype]. 54 61
10434539 1999
29
Epithelial hyperproliferation and transglutaminase 1 gene expression in Stevens-Johnson syndrome conjunctiva. 61 54
10027391 1999
30
Safety profile of nevirapine, a nonnucleoside reverse transcriptase inhibitor for the treatment of human immunodeficiency virus infection. 61 54
9916603 1998
31
Altered levels of complement components associated with non-immediate drug hypersensitivity reactions. 61
31795786 2020
32
Stevens-Johnson Syndrome and Toxic Epidermal Necrolysis in Children With Non-Hodgkin Lymphoma. 61
32576784 2020
33
Clinical clues predictive of Stevens-Johnson syndrome as the cause of chronic cicatrising conjunctivitis. 61
31630093 2020
34
Alteplase treatment for massive lung atelectasis in a child with severe bronchiolitis obliterans complicating Stevens-Johnson syndrome. 61
32324952 2020
35
Expression of prostaglandin E2 receptor 3 in the eyelid epidermis of patients with Stevens-Johnson syndrome/toxic epidermal necrolysis. 61
31000507 2020
36
Long-term outcomes of amniotic membrane treatment in acute Stevens-Johnson syndrome/toxic epidermal necrolysis. 61
32200005 2020
37
Highlights from the 2nd Biennial Stevens Johnson syndrome symposium 2019: SJS/TEN from Science to Translation. 61
31785388 2020
38
Treatment for oral lesions in pediatric patients with Stevens-Johnson's syndrome: A case report and literature review. 61
31923328 2020
39
Ectopic sebaceous glands of Gibsan in eyelid margin- A novel manifestation in Stevens Johnson Syndrome & proposed nomenclature based on an observational case series. 61
32194257 2020
40
Fixed Drug Eruptions: An Update, Emphasizing the Potentially Lethal Generalized Bullous Fixed Drug Eruption. 61
32002848 2020
41
Alopecia universalis after drug reaction with eosinophilia and systemic symptoms (Dress). 61
32524672 2020
42
Mycoplasma Pneumoniae Induced Rash and Mucositis (MIRM): A Longitudinal Perspective and Proposed Management Criteria. 61
32574770 2020
43
Successful use of rifampin in a patient with Stevens-Johnson syndrome to rifabutin. 61
32169513 2020
44
Stevens-Johnson syndrome triggered by Levetiracetam-Caution for use with Carbamazepine. 61
32540638 2020
45
Stevens-Johnson Syndrome Secondary to Doxycycline Treatment in a Teenage Boy. 61
32574716 2020
46
[Advances in understanding of the pathophysiology of epidermal necrolysis (Stevens-Johnson syndrome and toxic epidermal necrolysis)]. 61
32253008 2020
47
Stevens-Johnson syndrome and toxic epidermal necrolysis-like reactions to checkpoint inhibitors: a systematic review. 61
32052409 2020
48
Long-term Progression of Ocular Surface Disease in Stevens-Johnson Syndrome and Toxic Epidermal Necrolysis. 61
32028281 2020
49
A pediatric case of Stevens-Johnson syndrome/toxic epidermal necrolysis with rapid response to intravenous cyclosporine. 61
32509946 2020
50
Retrospective study of 213 cases of Stevens-Johnson syndrome and toxic epidermal necrolysis from China. 61
31898979 2020

Variations for Severe Cutaneous Adverse Reaction

ClinVar genetic disease variations for Severe Cutaneous Adverse Reaction:

6 ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 HLA-B HLA-B*15:02undetermined variant risk factor 14909
2 HLA-B HLA-B, HLA-B*5801undetermined variant risk factor 14911
3 HLA-A NM_002116.8(HLA-A):c.776del (p.Pro259fs)deletion not provided 441023 rs1554115495 6:29912054-29912054 6:29944277-29944277

Expression for Severe Cutaneous Adverse Reaction

Search GEO for disease gene expression data for Severe Cutaneous Adverse Reaction.

Pathways for Severe Cutaneous Adverse Reaction

Pathways related to Severe Cutaneous Adverse Reaction according to GeneCards Suite gene sharing:

(show all 28)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.87 HLA-C HLA-B HLA-A FASLG FAS CD4
2
Show member pathways
12.73 HLA-C HLA-B HLA-A FASLG FAS
3 12.71 HLA-C HLA-B HLA-A FASLG FAS
4 12.5 IKZF1 GZMB FASLG FAS CD8A
5
Show member pathways
12.39 HLA-C HLA-B HLA-A CD8A
6 12.25 HLA-C HLA-B HLA-A CD4
7
Show member pathways
12.18 PRF1 HLA-C HLA-B HLA-A GZMB FASLG
8
Show member pathways
12.14 PRF1 GZMB FASLG FAS
9
Show member pathways
12.06 PRF1 HLA-C HLA-B HLA-A GZMB GNLY
10 12 HLA-C HLA-B HLA-A CD8A
11 11.94 HLA-C HLA-B HLA-A CD8A CD4
12
Show member pathways
11.88 CYP2D6 CYP2C9 CYP2C19 CYP2B6
13
Show member pathways
11.84 PRF1 HLA-A CD8A CD4
14
Show member pathways
11.81 CYP2D6 CYP2C9 CYP2C19 CYP2B6
15
Show member pathways
11.72 PRF1 FASLG FAS
16
Show member pathways
11.71 HLA-A GZMB FASLG CD8A CD4
17 11.66 IKZF1 CD8A CD4
18 11.66 IKZF1 GZMB CD8A CD4
19
Show member pathways
11.61 CYP2D6 CYP2C9 CYP2C19 CYP2B6
20
Show member pathways
11.51 CYP2D6 CYP2C9 CYP2C19 CYP2B6
21 11.48 CYP2C9 CYP2C19 CYP2B6
22
Show member pathways
11.29 GZMB FASLG FAS
23
Show member pathways
11.26 CYP2D6 CYP2C9 CYP2C19
24 11.22 CYP2C9 CYP2C19 CYP2B6
25
Show member pathways
11.21 CYP2D6 CYP2C9 CYP2C19 CYP2B6
26
Show member pathways
11.14 PRF1 HLA-A GZMB FASLG CD8A
27 11.05 HLA-C HLA-B HLA-A
28 10.78 CYP2D6 CYP2B6

GO Terms for Severe Cutaneous Adverse Reaction

Cellular components related to Severe Cutaneous Adverse Reaction according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell surface GO:0009986 9.8 HLA-C HLA-B HLA-A FASLG FAS CD4
2 recycling endosome membrane GO:0055038 9.63 HLA-C HLA-B HLA-A
3 phagocytic vesicle membrane GO:0030670 9.61 HLA-C HLA-B HLA-A
4 ER to Golgi transport vesicle membrane GO:0012507 9.58 HLA-C HLA-B HLA-A
5 endoplasmic reticulum membrane GO:0005789 9.56 HLA-C HLA-B HLA-A CYP2D6 CYP2C9 CYP2C19
6 organelle membrane GO:0031090 9.46 CYP2D6 CYP2C9 CYP2C19 CYP2B6
7 integral component of lumenal side of endoplasmic reticulum membrane GO:0071556 9.43 HLA-C HLA-B HLA-A
8 cytolytic granule GO:0044194 9.37 PRF1 GNLY
9 MHC class I protein complex GO:0042612 8.8 HLA-C HLA-B HLA-A

Biological processes related to Severe Cutaneous Adverse Reaction according to GeneCards Suite gene sharing:

(show all 25)
# Name GO ID Score Top Affiliating Genes
1 immune response GO:0006955 9.98 HLA-C HLA-B HLA-A FASLG FAS CD8A
2 adaptive immune response GO:0002250 9.97 HLA-C HLA-B HLA-A CD8A CD4
3 regulation of immune response GO:0050776 9.9 HLA-C HLA-B HLA-A CD8A
4 steroid metabolic process GO:0008202 9.81 CYP2D6 CYP2C9 CYP2C19 CYP2B6
5 xenobiotic metabolic process GO:0006805 9.78 CYP2D6 CYP2C9 CYP2C19 CYP2B6
6 antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent GO:0002479 9.77 HLA-C HLA-B HLA-A
7 interferon-gamma-mediated signaling pathway GO:0060333 9.76 HLA-C HLA-B HLA-A
8 type I interferon signaling pathway GO:0060337 9.74 HLA-C HLA-B HLA-A
9 antigen processing and presentation of peptide antigen via MHC class I GO:0002474 9.67 HLA-C HLA-B HLA-A
10 antigen processing and presentation GO:0019882 9.67 HLA-C HLA-B HLA-A CD8A
11 epoxygenase P450 pathway GO:0019373 9.63 CYP2C9 CYP2C19 CYP2B6
12 oxidative demethylation GO:0070989 9.62 CYP2D6 CYP2C9
13 detection of bacterium GO:0016045 9.62 HLA-B HLA-A
14 T cell mediated cytotoxicity GO:0001913 9.61 PRF1 HLA-A
15 omega-hydroxylase P450 pathway GO:0097267 9.61 CYP2C9 CYP2C19
16 antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent GO:0002480 9.58 HLA-C HLA-B HLA-A
17 necroptotic signaling pathway GO:0097527 9.56 FASLG FAS
18 heterocycle metabolic process GO:0046483 9.55 CYP2D6 CYP2C19
19 drug catabolic process GO:0042737 9.54 CYP2D6 CYP2C9
20 protection from natural killer cell mediated cytotoxicity GO:0042270 9.52 HLA-B HLA-A
21 antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-independent GO:0002486 9.5 HLA-C HLA-B HLA-A
22 exogenous drug catabolic process GO:0042738 9.46 CYP2D6 CYP2C9 CYP2C19 CYP2B6
23 monoterpenoid metabolic process GO:0016098 9.43 CYP2D6 CYP2C9 CYP2C19
24 drug metabolic process GO:0017144 9.26 CYP2D6 CYP2C9 CYP2C19 CYP2B6
25 organic acid metabolic process GO:0006082 8.92 CYP2D6 CYP2C9 CYP2C19 CYP2B6

Molecular functions related to Severe Cutaneous Adverse Reaction according to GeneCards Suite gene sharing:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 heme binding GO:0020037 9.81 CYP2D6 CYP2C9 CYP2C19 CYP2B6
2 iron ion binding GO:0005506 9.8 CYP2D6 CYP2C9 CYP2C19 CYP2B6
3 monooxygenase activity GO:0004497 9.67 CYP2D6 CYP2C9 CYP2C19 CYP2B6
4 peptide antigen binding GO:0042605 9.65 HLA-C HLA-B HLA-A
5 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen GO:0016705 9.62 CYP2D6 CYP2C9 CYP2C19 CYP2B6
6 (R)-limonene 6-monooxygenase activity GO:0052741 9.46 CYP2C9 CYP2C19
7 steroid hydroxylase activity GO:0008395 9.46 CYP2D6 CYP2C9 CYP2C19 CYP2B6
8 (S)-limonene 7-monooxygenase activity GO:0018676 9.43 CYP2C9 CYP2C19
9 arachidonic acid epoxygenase activity GO:0008392 9.43 CYP2C9 CYP2C19 CYP2B6
10 (S)-limonene 6-monooxygenase activity GO:0018675 9.4 CYP2C9 CYP2C19
11 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen GO:0016712 9.26 CYP2D6 CYP2C9 CYP2C19 CYP2B6
12 TAP binding GO:0046977 8.8 HLA-C HLA-B HLA-A

Sources for Severe Cutaneous Adverse Reaction

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
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