eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| stevens-johnson syndrome | ||||
| Disease ID | 22 |
|---|---|
| Disease | stevens-johnson syndrome |
| Definition | Rare cutaneous eruption characterized by extensive KERATINOCYTE apoptosis resulting in skin detachment with mucosal involvement. It is often provoked by the use of drugs (e.g., antibiotics and anticonvulsants) or associated with PNEUMONIA, MYCOPLASMA. It is considered a continuum of Toxic Epidermal Necrolysis. |
| Synonym | bullous erythema multiforme bullous erythema multiforme (disorder) ectodermosis erosiva pluriorificialis erythema exsudativum multiforme erythema multiforme bullosum erythema multiforme bullosum (stevens johnson syndrome) erythema multiforme exudativum erythema multiforme major febrile mucocutaneous syndrome johnson reaction stevens johnson steven syndrome johnson stevens syndrome johnsons steven syndrome johnsons stevens syndrome steven johnson syndrome steven johnsons syndrome steven jonhson syndrome stevens - johnson syndrome stevens johnson reaction stevens johnson syndrome stevens johnsons syndrome stevens-johnson synd. stevens-johnson syndrome (disorder) stevens-johnson syndrome [disease/finding] syndrome stevens-johnson |
| Orphanet | |
| DOID | |
| ICD10 | |
| UMLS | C0038325 |
| MeSH | |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:23) C0026934 | mycoplasma | 6 C0032285 | pneumoniae | 6 C0032302 | mycoplasma pneumonia | 5 C0006272 | bronchiolitis obliterans | 3 C0006271 | bronchiolitis | 3 C0314719 | dry eye | 3 C0409974 | lupus erythematosus | 2 C0456909 | blindness | 2 C0022568 | keratitis | 2 C0042769 | virus infection | 2 C0030804 | cicatricial pemphigoid | 2 C0030805 | pemphigoid | 1 C0023290 | visceral leishmaniasis | 1 C0015230 | cutaneous eruption | 1 C0008148 | chlamydia | 1 C0024141 | systemic lupus erythematosus | 1 C0024291 | hemophagocytic lymphohistiocytosis | 1 C0015230 | rash | 1 C0019829 | hodgkin's disease | 1 C0314719 | dry eyes | 1 C0026780 | parotitis | 1 C0041296 | tuberculosis | 1 C0006277 | bronchitis | 1 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:30) 3106 | HLA-B | CLINVAR;CTD_human;ORPHANET 213 | ALB | CTD_human 7415 | VCP | CTD_human 5925 | RB1 | CTD_human 1440 | CSF3 | CTD_human 5740 | PTGIS | CTD_human 3458 | IFNG | CTD_human 3440 | IFNA2 | CTD_human 4843 | NOS2 | CTD_human 142 | PARP1 | CTD_human 10320 | IKZF1 | ORPHANET 3105 | HLA-A | CTD_human 857 | CAV1 | CTD_human 26270 | FBXO6 | CTD_human 4282 | MIF | CTD_human 10659 | CELF2 | CTD_human 1499 | CTNNB1 | CTD_human 2033 | EP300 | CTD_human 5371 | PML | CTD_human 4734 | NEDD4 | CTD_human 10987 | COPS5 | CTD_human 9844 | ELMO1 | CTD_human 3107 | HLA-C | CTD_human 5733 | PTGER3 | CTD_human 9978 | RBX1 | CTD_human 5705 | PSMC5 | CTD_human 8454 | CUL1 | CTD_human 79139 | DERL1 | CTD_human 4924 | NUCB1 | CTD_human 8451 | CUL4A | CTD_human |
| Inferring Gene | Entrez_id | Symbol | Resource(Total Genes:34) 3106 | HLA-B | CIPHER;CTD_human 100507436 | MICA | CIPHER 394263 | MUC21 | CIPHER 5460 | POU5F1 | CIPHER 170679 | PSORS1C1 | CIPHER 7098 | TLR3 | CIPHER 7415 | VCP | CTD_human 142 | PARP1 | CTD_human 26270 | FBXO6 | CTD_human 4282 | MIF | CTD_human 4843 | NOS2 | CTD_human 5740 | PTGIS | CTD_human 5371 | PML | CTD_human 4734 | NEDD4 | CTD_human 10987 | COPS5 | CTD_human 9978 | RBX1 | CTD_human 9844 | ELMO1 | CTD_human 2033 | EP300 | CTD_human 1499 | CTNNB1 | CTD_human 3440 | IFNA2 | CTD_human 5705 | PSMC5 | CTD_human 3458 | IFNG | CTD_human 8454 | CUL1 | CTD_human 79139 | DERL1 | CTD_human 4924 | NUCB1 | CTD_human 8451 | CUL4A | CTD_human 1440 | CSF3 | CTD_human 5733 | PTGER3 | CTD_human 5925 | RB1 | CTD_human 213 | ALB | CTD_human 3105 | HLA-A | CTD_human 3107 | HLA-C | CTD_human 10659 | CELF2 | CTD_human 857 | CAV1 | CTD_human |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:63) 23461 | ABCA5 | 2.479 | DISEASES 89845 | ABCC10 | 2.106 | DISEASES 197 | AHSG | 1.195 | DISEASES 415 | ARSE | 1.141 | DISEASES 2683 | B4GALT1 | 1.606 | DISEASES 7917 | BAG6 | 1.23 | DISEASES 959 | CD40LG | 2.074 | DISEASES 942 | CD86 | 1.073 | DISEASES 1154 | CISH | 2.051 | DISEASES 29119 | CTNNA3 | 1.562 | DISEASES 2833 | CXCR3 | 1.006 | DISEASES 1555 | CYP2B6 | 1.857 | DISEASES 1557 | CYP2C19 | 2.56 | DISEASES 1565 | CYP2D6 | 2.242 | DISEASES 1576 | CYP3A4 | 2.336 | DISEASES 1832 | DSP | 1.715 | DISEASES 64167 | ERAP2 | 1.808 | DISEASES 11082 | ESM1 | 1.318 | DISEASES 356 | FASLG | 4.072 | DISEASES 2205 | FCER1A | 1.306 | DISEASES 2214 | FCGR3A | 1.218 | DISEASES 2312 | FLG | 1.754 | DISEASES 2316 | FLNA | 1.627 | DISEASES 50943 | FOXP3 | 1.485 | DISEASES 2709 | GJB5 | 2.699 | DISEASES 10866 | HCP5 | 2.489 | DISEASES 390992 | HES3 | 2.137 | DISEASES 388585 | HES5 | 1.485 | DISEASES 23462 | HEY1 | 1.091 | DISEASES 3105 | HLA-A | 4.001 | DISEASES 3106 | HLA-B | 5.195 | DISEASES 3107 | HLA-C | 2.792 | DISEASES 3123 | HLA-DRB1 | 2.108 | DISEASES 3133 | HLA-E | 2.173 | DISEASES 3146 | HMGB1 | 1.013 | DISEASES 3339 | HSPG2 | 7.076 | DISEASES 10320 | IKZF1 | 1.614 | DISEASES 3712 | IVD | 2.183 | DISEASES 3822 | KLRC2 | 2.624 | DISEASES 3824 | KLRD1 | 1.873 | DISEASES 3850 | KRT3 | 4.315 | DISEASES 3851 | KRT4 | 1.453 | DISEASES 3916 | LAMP1 | 1.403 | DISEASES 4014 | LOR | 1.046 | DISEASES 84557 | MAP1LC3A | 1.264 | DISEASES 4082 | MARCKS | 1.218 | DISEASES 57591 | MKL1 | 1.138 | DISEASES 4439 | MSH5 | 1.849 | DISEASES 94025 | MUC16 | 1.182 | DISEASES 394263 | MUC21 | 2.22 | DISEASES 4586 | MUC5AC | 1.894 | DISEASES 64332 | NFKBIZ | 3.389 | DISEASES 5080 | PAX6 | 1.741 | DISEASES 28227 | PPP2R3B | 2.296 | DISEASES 5733 | PTGER3 | 3.644 | DISEASES 51109 | RDH11 | 1.14 | DISEASES 6565 | SLC15A2 | 2.095 | DISEASES 9356 | SLC22A6 | 1.583 | DISEASES 4070 | TACSTD2 | 1.064 | DISEASES 284486 | THEM5 | 1.637 | DISEASES 9414 | TJP2 | 1.478 | DISEASES 7124 | TNF | 2.497 | DISEASES 7133 | TNFRSF1B | 1.724 | DISEASES |
| Locus | Symbol | Locus(Total Locus:2) |
| Disease ID | 22 |
|---|---|
| Disease | stevens-johnson syndrome |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:39) HP:0002239 | Gastrointestinal hemorrhage HP:0012733 | Macule HP:0002094 | Dyspnea HP:0012378 | Fatigue HP:0001733 | Pancreatitis HP:0002015 | Dysphagia HP:0002027 | Abdominal pain HP:0001824 | Weight loss HP:0100806 | Sepsis HP:0000083 | Renal insufficiency HP:0002205 | Recurrent respiratory infections HP:0001637 | Abnormality of the myocardium HP:0006554 | Acute hepatic failure HP:0002091 | Restrictive lung disease HP:0010783 | Erythema HP:0001873 | Thrombocytopenia HP:0100792 | Acantholysis HP:0002014 | Diarrhea HP:0001874 | Abnormality of neutrophils HP:0200020 | Corneal erosion HP:0002017 | Nausea and vomiting HP:0008066 | Abnormal blistering of the skin HP:0001903 | Anemia HP:0100518 | Dysuria HP:0001658 | Myocardial infarction HP:0001960 | Hypokalemic metabolic alkalosis HP:0003781 | Excessive salivation HP:0000795 | Abnormality of the urethra HP:0030016 | Dyspareunia HP:0001945 | Fever HP:0002043 | Esophageal stricture HP:0012735 | Cough HP:0002103 | Abnormality of the pleura HP:0002910 | Elevated hepatic transaminases HP:0001645 | Sudden cardiac death HP:0000505 | Visual impairment HP:0000613 | Photophobia HP:0000621 | Entropion HP:0000509 | Conjunctivitis |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:12) HP:0011950 | Bronchiolitis | 3 HP:0011946 | Constrictive bronchiolitis | 3 HP:0008066 | Skin bullae | 2 HP:0000618 | Blindness | 2 HP:0000491 | Corneal inflammation | 2 HP:0430007 | Symblepharon | 1 HP:0001097 | Keratoconjunctivitis sicca | 1 HP:0011850 | Parotitis | 1 HP:0002725 | Systemic lupus erythematosus | 1 HP:0040189 | Desquamation | 1 HP:0012387 | Bronchitis | 1 HP:0007957 | Corneal clouding | 1 |
| Disease ID | 22 |
|---|---|
| Disease | stevens-johnson syndrome |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:22) C2707258 | infections C2364133 | infection C1963186 | ocular surface disease C1962986 | glaucoma C1145670 | respiratory failure C0877117 | cytomegalovirus gastritis C0334050 | adenosis C0221259 | trichiasis C0155285 | orbital cyst C0155163 | conjunctival pigmentation C0151970 | esophageal ulcer C0037285 | skin manifestations C0034067 | emphysema C0015469 | facial palsy C0015397 | ocular disease C0015397 | eye disorders C0014868 | oesophagitis C0011603 | dermatitis C0008049 | varicella infection C0006272 | obliterative bronchiolitis C0006272 | bronchiolitis obliterans C0004610 | bacteremia |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:5) C0006272 | bronchiolitis obliterans | 3 C0032285 | pneumoniae | 2 C1557335 | ocular surface disease | 1 C0009450 | infection | 1 C0004610 | bacteremia | 1 |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:6) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs28399499 | 23774940 | 1555 | CYP2B6 | umls:C0038325 | BeFree | CYP2B6 G516T and T983C single nucleotide polymorphisms (SNPs) were found to be associated with SJS/TEN susceptibility. | 0.000542884 | 2013 | CYP2B6 | 19 | 41012316 | T | C |
| rs2844665 | 21801394 | 394263 | MUC21 | umls:C0038325 | GAD | [The involvement of genetic variants located in the HLA region in SJS/TEN is confirmed in European samples, but no other locus reaches genome-wide statistical significance in this sample that is also the largest one collected so far. If some loci outside H] | 0.002367032 | 2011 | NA | 6 | 31039078 | T | C |
| rs3130501 | 21801394 | 5460 | POU5F1 | umls:C0038325 | GAD | [The involvement of genetic variants located in the HLA region in SJS/TEN is confirmed in European samples, but no other locus reaches genome-wide statistical significance in this sample that is also the largest one collected so far. If some loci outside H] | 0.002367032 | 2011 | POU5F1 | 6 | 31168676 | A | G |
| rs3745274 | 23774940 | 1555 | CYP2B6 | umls:C0038325 | BeFree | CYP2B6 G516T and T983C single nucleotide polymorphisms (SNPs) were found to be associated with SJS/TEN susceptibility. | 0.000542884 | 2013 | CYP2B6 | 19 | 41006936 | G | A,T |
| rs3815087 | 21801394 | 170679 | PSORS1C1 | umls:C0038325 | GAD | [The involvement of genetic variants located in the HLA region in SJS/TEN is confirmed in European samples, but no other locus reaches genome-wide statistical significance in this sample that is also the largest one collected so far. If some loci outside H] | 0.002367032 | 2011 | PSORS1C1 | 6 | 31125810 | G | A |
| rs56308434 | 23774940 | 1555 | CYP2B6 | umls:C0038325 | BeFree | CYP2B6 G516T and T983C single nucleotide polymorphisms (SNPs) were found to be associated with SJS/TEN susceptibility. | 0.000542884 | 2013 | NA | NA | NA | NA | NA |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:19) | |||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| CHR | POS | SNPID | REF | ALT | ORI_SNPID | PMID | P_VALUE | P_VALUE_TEXT | OR/BETA | CI95_TEXT | GWAS_INITIAL_SAMPLE_SIZE | SUB_POPULATION | SUPER_POPULATION | GWAS_TRAIT | HPO_ID | HPO_TERM | DO_ID | DO_TERM | MESH_ID | MESH_TERM | EFO_ID | EFO_TERM | DOLITE_TERM | RISK_ALLELE | PUBLICATION_TYPE | AA | GENE_SYMBOL | TYPE | REFGENE |
| 1 | 71296002 | rs17131450 | G | A | rs17131450 | 20947153 | 1.70E-06 | Stevens-Johnson syndrome or toxic epidermal necrolysis with ocular involvement | NA | NA | 60 Japanese cases; 300 Japanese controls | Japanese(360) | ALL(360) | ASN(360) | ALL(360) | Stevens-Johnson syndrome | HPOID:0100326 | Immunologic hypersensitivity | DOID:0050426 | Stevens-Johnson syndrome | NA | NA | NA | NA | Skin disease | NA | Research Support, Non-U.S. Gov't | G | NA |
| 1 | 71337193 | rs1325949 | T | C | rs1325949 | 20947153 | 2.00E-04 | Stevens-Johnson syndrome or toxic epidermal necrolysis with ocular involvement | NA | NA | 60 Japanese cases; 300 Japanese controls | Japanese(360) | ALL(360) | ASN(360) | ALL(360) | Stevens-Johnson syndrome | HPOID:0100326 | Immunologic hypersensitivity | DOID:0050426 | Stevens-Johnson syndrome | NA | NA | NA | NA | Skin disease | NA | Research Support, Non-U.S. Gov't | A | PTGER3 |
| 1 | 71339973 | rs7543182 | C | A | rs7543182 | 20947153 | 2.50E-04 | Stevens-Johnson syndrome or toxic epidermal necrolysis with ocular involvement | NA | NA | 60 Japanese cases; 300 Japanese controls | Japanese(360) | ALL(360) | ASN(360) | ALL(360) | Stevens-Johnson syndrome | HPOID:0100326 | Immunologic hypersensitivity | DOID:0050426 | Stevens-Johnson syndrome | NA | NA | NA | NA | Skin disease | NA | Research Support, Non-U.S. Gov't | C | PTGER3 |
| 1 | 71343960 | rs7555874 | C | T | rs7555874 | 20947153 | 4.60E-04 | Stevens-Johnson syndrome or toxic epidermal necrolysis with ocular involvement | NA | NA | 60 Japanese cases; 300 Japanese controls | Japanese(360) | ALL(360) | ASN(360) | ALL(360) | Stevens-Johnson syndrome | HPOID:0100326 | Immunologic hypersensitivity | DOID:0050426 | Stevens-Johnson syndrome | NA | NA | NA | NA | Skin disease | NA | Research Support, Non-U.S. Gov't | C | PTGER3 |
| 1 | 160922751 | rs4596920 | C | T | rs4596920 | 21221126 | 5.20E-06 | NA | NA | NA | 160 European cases; 4,819 European controls | European(4979) | ALL(4979) | EUR(4979) | ALL(4979) | Stevens-Johnson syndrome and toxic epidermal necrolysis (SJS-TEN) | HPOID:0100326 | HPOID:0011124 | Immunologic hypersensitivity | Abnormality of epidermal morphology | DOID:0050426 | Stevens-Johnson syndrome | D013262 | Stevens-Johnson Syndrome | EFOID:0004276 | toxic epidermal necrolysis | Skin disease | NA | Research Support, Non-U.S. Gov't |
| 6 | 3368956 | rs13219577 | G | T | rs13219577 | 21221126 | 6.90E-06 | NA | NA | NA | 160 European cases; 4,819 European controls | European(4979) | ALL(4979) | EUR(4979) | ALL(4979) | Stevens-Johnson syndrome and toxic epidermal necrolysis (SJS-TEN) | HPOID:0100326 | HPOID:0011124 | Immunologic hypersensitivity | Abnormality of epidermal morphology | DOID:0050426 | Stevens-Johnson syndrome | D013262 | Stevens-Johnson Syndrome | EFOID:0004276 | toxic epidermal necrolysis | Skin disease | NA | Research Support, Non-U.S. Gov't |
| 6 | 3371291 | rs981946 | G | A | rs981946 | 21221126 | 2.80E-06 | NA | NA | NA | 160 European cases; 4,819 European controls | European(4979) | ALL(4979) | EUR(4979) | ALL(4979) | Stevens-Johnson syndrome and toxic epidermal necrolysis (SJS-TEN) | HPOID:0100326 | HPOID:0011124 | Immunologic hypersensitivity | Abnormality of epidermal morphology | DOID:0050426 | Stevens-Johnson syndrome | D013262 | Stevens-Johnson Syndrome | EFOID:0004276 | toxic epidermal necrolysis | Skin disease | NA | Research Support, Non-U.S. Gov't |
| 6 | 3372545 | rs1079284 | G | A | rs1079284 | 21221126 | 2.90E-06 | NA | NA | NA | 160 European cases; 4,819 European controls | European(4979) | ALL(4979) | EUR(4979) | ALL(4979) | Stevens-Johnson syndrome and toxic epidermal necrolysis (SJS-TEN) | HPOID:0100326 | HPOID:0011124 | Immunologic hypersensitivity | Abnormality of epidermal morphology | DOID:0050426 | Stevens-Johnson syndrome | D013262 | Stevens-Johnson Syndrome | EFOID:0004276 | toxic epidermal necrolysis | Skin disease | NA | Research Support, Non-U.S. Gov't |
| 6 | 3375697 | rs6911308 | T | G | rs6911308 | 21221126 | 2.80E-06 | NA | NA | NA | 160 European cases; 4,819 European controls | European(4979) | ALL(4979) | EUR(4979) | ALL(4979) | Stevens-Johnson syndrome and toxic epidermal necrolysis (SJS-TEN) | HPOID:0100326 | HPOID:0011124 | Immunologic hypersensitivity | Abnormality of epidermal morphology | DOID:0050426 | Stevens-Johnson syndrome | D013262 | Stevens-Johnson Syndrome | EFOID:0004276 | toxic epidermal necrolysis | Skin disease | NA | Research Support, Non-U.S. Gov't |
| 6 | 3376492 | rs913533 | C | T | rs913533 | 21221126 | 1.60E-06 | NA | NA | NA | 160 European cases; 4,819 European controls | European(4979) | ALL(4979) | EUR(4979) | ALL(4979) | Stevens-Johnson syndrome and toxic epidermal necrolysis (SJS-TEN) | HPOID:0100326 | HPOID:0011124 | Immunologic hypersensitivity | Abnormality of epidermal morphology | DOID:0050426 | Stevens-Johnson syndrome | D013262 | Stevens-Johnson Syndrome | EFOID:0004276 | toxic epidermal necrolysis | Skin disease | NA | Research Support, Non-U.S. Gov't |
| 6 | 31006855 | rs2844665 | T | C | rs2844665 | 21801394 | 3.00E-07 | NA | 1.54 | [1.30-1.82] | 495 European ancestry cases; 1,881 European ancestry controls | European(2376) | ALL(2376) | EUR(2376) | ALL(2376) | Stevens-Johnson syndrome and toxic epidermal necrolysis (SJS-TEN) | HPOID:0100326 | HPOID:0011124 | Immunologic hypersensitivity | Abnormality of epidermal morphology | DOID:0050426 | Stevens-Johnson syndrome | D013262 | Stevens-Johnson Syndrome | EFOID:0004276 | toxic epidermal necrolysis | Skin disease | rs2844665-C | Research Support, Non-U.S. Gov't |
| 6 | 31093587 | rs3815087 | G | A | rs3815087 | 21801394 | 3.00E-07 | NA | 1.53 | [1.29-1.80] | 495 European ancestry cases; 1,881 European ancestry controls | European(2376) | ALL(2376) | EUR(2376) | ALL(2376) | Stevens-Johnson syndrome and toxic epidermal necrolysis (SJS-TEN) | HPOID:0100326 | HPOID:0011124 | Immunologic hypersensitivity | Abnormality of epidermal morphology | DOID:0050426 | Stevens-Johnson syndrome | D013262 | Stevens-Johnson Syndrome | EFOID:0004276 | toxic epidermal necrolysis | Skin disease | rs3815087-A | Research Support, Non-U.S. Gov't |
| 6 | 31136453 | rs3130501 | A | G | rs3130501 | 21801394 | 2.00E-08 | NA | 1.74 | [1.43-2.13] | 495 European ancestry cases; 1,881 European ancestry controls | European(2376) | ALL(2376) | EUR(2376) | ALL(2376) | Stevens-Johnson syndrome and toxic epidermal necrolysis (SJS-TEN) | HPOID:0100326 | HPOID:0011124 | Immunologic hypersensitivity | Abnormality of epidermal morphology | DOID:0050426 | Stevens-Johnson syndrome | D013262 | Stevens-Johnson Syndrome | EFOID:0004276 | toxic epidermal necrolysis | Skin disease | rs3130501-G | Research Support, Non-U.S. Gov't |
| 6 | 31407828 | rs9469003 | T | C | rs9469003 | 21801394 | 2.00E-09 | NA | 1.73 | [1.44-2.08] | 495 European ancestry cases; 1,881 European ancestry controls | European(2376) | ALL(2376) | EUR(2376) | ALL(2376) | Stevens-Johnson syndrome and toxic epidermal necrolysis (SJS-TEN) | HPOID:0100326 | HPOID:0011124 | Immunologic hypersensitivity | Abnormality of epidermal morphology | DOID:0050426 | Stevens-Johnson syndrome | D013262 | Stevens-Johnson Syndrome | EFOID:0004276 | toxic epidermal necrolysis | Skin disease | rs9469003-C | Research Support, Non-U.S. Gov't |
| 6 | 31505480 | rs2734583 | A | G | rs2734583 | 21912425 | 2.00E-08 | NA | 66.8 | [19.80-225.00] | 14 Japanese ancestry cases; 991 Japanese ancestry controls | Japanese(1005) | ALL(1005) | ASN(1005) | ALL(1005) | Stevens-Johnson syndrome and toxic epidermal necrolysis (SJS-TEN) | HPOID:0100326 | HPOID:0011124 | Immunologic hypersensitivity | Abnormality of epidermal morphology | DOID:0050426 | Stevens-Johnson syndrome | D013262 | Stevens-Johnson Syndrome | EFOID:0004276 | toxic epidermal necrolysis | Skin disease | NA | Research Support, Non-U.S. Gov't |
| 6 | 85818620 | rs1325975 | G | C | rs1325975 | 20947153 | 1.48E-06 | Stevens-Johnson syndrome or toxic epidermal necrolysis with ocular involvement | NA | NA | 60 Japanese cases; 300 Japanese controls | Japanese(360) | ALL(360) | ASN(360) | ALL(360) | Stevens-Johnson syndrome | HPOID:0100326 | Immunologic hypersensitivity | DOID:0050426 | Stevens-Johnson syndrome | NA | NA | NA | NA | Skin disease | NA | Research Support, Non-U.S. Gov't | G | NA |
| 11 | 27393813 | rs2448001 | G | A | rs2448001 | 21221126 | 4.90E-06 | NA | NA | NA | 160 European cases; 4,819 European controls | European(4979) | ALL(4979) | EUR(4979) | ALL(4979) | Stevens-Johnson syndrome and toxic epidermal necrolysis (SJS-TEN) | HPOID:0100326 | HPOID:0011124 | Immunologic hypersensitivity | Abnormality of epidermal morphology | DOID:0050426 | Stevens-Johnson syndrome | D013262 | Stevens-Johnson Syndrome | EFOID:0004276 | toxic epidermal necrolysis | Skin disease | NA | Research Support, Non-U.S. Gov't |
| 11 | 27395875 | rs2472632 | C | A | rs2472632 | 21221126 | 5.30E-06 | NA | NA | NA | 160 European cases; 4,819 European controls | European(4979) | ALL(4979) | EUR(4979) | ALL(4979) | Stevens-Johnson syndrome and toxic epidermal necrolysis (SJS-TEN) | HPOID:0100326 | HPOID:0011124 | Immunologic hypersensitivity | Abnormality of epidermal morphology | DOID:0050426 | Stevens-Johnson syndrome | D013262 | Stevens-Johnson Syndrome | EFOID:0004276 | toxic epidermal necrolysis | Skin disease | NA | Research Support, Non-U.S. Gov't |
| 11 | 79781947 | rs11238074 | T | C | rs11238074 | 20947153 | 2.40E-06 | Stevens-Johnson syndrome or toxic epidermal necrolysis with ocular involvement | NA | NA | 60 Japanese cases; 300 Japanese controls | Japanese(360) | ALL(360) | ASN(360) | ALL(360) | Stevens-Johnson syndrome | HPOID:0100326 | Immunologic hypersensitivity | DOID:0050426 | Stevens-Johnson syndrome | NA | NA | NA | NA | Skin disease | NA | Research Support, Non-U.S. Gov't | T | NA |
Mapped by lexical matching(Total Items:15) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0001874 | Abnormality of neutrophils | MP:0009657 | failure of chorioallantoic fusion | failure to initiate and/or complete the formation of a highly vascularized extra-embryonic fetal membrane by fusion of the chorion and allantois |
| HP:0002239 | Gastrointestinal hemorrhage | MP:0012305 | umbilical cord hemorrhage | bleeding into or from the umbilical cord |
| HP:0008066 | Abnormal blistering of the skin | MP:0009536 | abnormal interstitial cell of Cajal morphology | any structural anomaly in the type of cell found in the gastrointestinal tract and serving as a pacemaker that triggers gut contraction; ICCs mediate inputs from the enteric nervous system to smooth muscle cells and are thought to be the cells from which |
| HP:0006554 | Acute hepatic failure | MP:0002628 | hepatic steatosis | an accumulation of fat deposits in the liver |
| HP:0002910 | Elevated hepatic transaminases | MP:0002628 | hepatic steatosis | an accumulation of fat deposits in the liver |
| HP:0000795 | Abnormality of the urethra | MP:0002053 | decreased incidence of induced tumors | reduced frequency of tumor incidence induced by a carcinogen, mutagen or virus |
| HP:0000083 | Renal insufficiency | MP:0003335 | exocrine pancreatic insufficiency | inadequate synthesis and/or secretion of digestive enzymes by the exocrine portion of the pancreas, usually due to loss of acinar tissue from idiopathic atrophy or acute or chronic inflammation, causing maldigestion and malabsorption of nutrients |
| HP:0002103 | Abnormality of the pleura | MP:0008151 | increased diameter of long bones | increased width of the cross-sectional distance that extends from one lateral edge of a long bone, through its center and to the opposite lateral edge |
| HP:0001960 | Hypokalemic metabolic alkalosis | MP:0003028 | alkalosis | a pathological condition characterized by a decrease in the hydrogen ion concentration in tissues and in blood; caused by an increase in the concentration of alkaline compounds, or by a decrease in the concentration of acidic compounds or carbon dioxide t |
| HP:0003781 | Excessive salivation | MP:0000622 | increased salivation | greater than normal amounts of flowing saliva |
| HP:0002091 | Restrictive lung disease | MP:0008714 | increased lung carcinoma incidence | greater than the expected number of a malignant neoplasm of the ling, arising from epithelial cells, usually glandular or squamous, occurring in a specific population in a given time period |
| HP:0001645 | Sudden cardiac death | MP:0012557 | decreased calcium uptake by cardiac muscle | decreased directed movement of calcium ions into cardiac muscle; decreased or disrupted uptake may give rise to energetic deficit and oxidative stress. leading to cardiac disease |
| HP:0002017 | Nausea and vomiting | MP:0010426 | abnormal heart and great artery attachment | any anomaly in the in the position or pattern of the connection site of the heart to any of the great arteries, including the pulmonary artery and aorta |
| HP:0002205 | Recurrent respiratory infections | MP:0014182 | decreased respiratory epithelial sodium ion transmembrane transport | decrease in the directed movement of sodium ions from one side of the respiratory epithelial cell membrane to the other |
| HP:0001824 | Weight loss | MP:0005114 | premature hair loss | release of fur at an earlier than expected time |
Mapped by homologous gene(Total Items:36) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0100518 | Dysuria | MP:0011414 | erythruria | passage of red colored urine |
| HP:0012735 | Cough | MP:0014185 | cerebellum atrophy | acquired diminution of the size of the cerebellum associated with wasting as from death and reabsorption of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal |
| HP:0001945 | Fever | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0006554 | Acute hepatic failure | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000509 | Conjunctivitis | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0010783 | Erythema | MP:0013781 | abnormal mammary gland luminal epithelium morphology | any structural anomaly of the inner cell layer of the mammary epithelium bilayer that lines the luminal surface of mammary gland ducts and alveoli; luminal cells have only limited contact with the underlying basement membrane and surrounding connective ti |
| HP:0002015 | Dysphagia | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0002205 | Recurrent respiratory infections | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0001903 | Anemia | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| HP:0002103 | Abnormality of the pleura | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0002094 | Dyspnea | MP:0014185 | cerebellum atrophy | acquired diminution of the size of the cerebellum associated with wasting as from death and reabsorption of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal |
| HP:0001960 | Hypokalemic metabolic alkalosis | MP:0011967 | increased or absent threshold for auditory brainstem response | increase in the value at which one or more sound frequencies or broadband clicks first elicits a recordable response generated by electrical activity of neurons in the ascending auditory system, or complete lack of a recordable response at any frequency o |
| HP:0100792 | Acantholysis | MP:0013278 | decreased fasted circulating glucose level | reduction in the amount of glucose in the blood at some defined time point after eating compared to controls |
| HP:0200020 | Corneal erosion | MP:0020087 | increased susceptibility to non-insulin-dependent diabetes | increased likelihood to develop non-insulin-dependent diabetes |
| HP:0002239 | Gastrointestinal hemorrhage | MP:0020215 | impaired blood coagulation | impaired ability of the blood to clot |
| HP:0002017 | Nausea and vomiting | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0001873 | Thrombocytopenia | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0002014 | Diarrhea | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0008066 | Abnormal blistering of the skin | MP:0020039 | increased bone ossification | increase in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance |
| HP:0003781 | Excessive salivation | MP:0012559 | decreased forebrain volume | decrease from the average range of forebrain volume compared to normal |
| HP:0012378 | Fatigue | MP:0013659 | abnormal erythroid lineage cell morphology | any structural anomaly of an immature or mature cell in the lineage leading to and including erythrocytes |
| HP:0100806 | Sepsis | MP:0011708 | decreased fibroblast cell migration | reduced frequency of or less rapid fibroblast cell migration that is accomplished by extension and retraction of a fibroblast pseudopodium |
| HP:0001824 | Weight loss | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0002910 | Elevated hepatic transaminases | MP:0020234 | decreased basal metabolism | decrease in heat production of an organism at the lowest level of cell chemistry in an inactive, awake, and fasting state |
| HP:0002027 | Abdominal pain | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0000083 | Renal insufficiency | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| HP:0001645 | Sudden cardiac death | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0000795 | Abnormality of the urethra | MP:0011966 | abnormal auditory brainstem response waveform shape | any anomaly in the characteristic pattern of electrical activity recording of a series of vertex positive waves generated by neurons in the ascending auditory system, that can be recorded from scalp electrograms by using computer-averaged responses to sho |
| HP:0002043 | Esophageal stricture | MP:0013501 | increased fibroblast apoptosis | increase in the timing or the number of fibroblast cells undergoing programmed cell death |
| HP:0000621 | Entropion | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001733 | Pancreatitis | MP:0020134 | abnormal gallbladder size | an anomaly in the size of the gall bladder compared to average, the organ that serves as a storage reservoir for bile |
| HP:0001658 | Myocardial infarction | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000613 | Photophobia | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0000505 | Visual impairment | MP:3000003 | abnormal Ebner's gland morphology | any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l |
| HP:0001874 | Abnormality of neutrophils | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| HP:0002091 | Restrictive lung disease | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| Disease ID | 22 |
|---|---|
| Disease | stevens-johnson syndrome |
| Case | (Waiting for update.) |