PedAM
Pediatric Disease Annotations & Medicines
| lupus erythematosus | ||||
| Disease ID | 437 |
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| Disease | lupus erythematosus |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:79) C2364133 | infection C2364072 | depression C2186740 | urticaria C2046121 | aortic dissection C1963220 | pulmonary hypertension C1963211 | pericarditis C1963138 | hypertension C1962971 | myocarditis C1868885 | uncontrolled hypertension C1705714 | warts C1403411 | lymphadenosis cutis benigna C1402315 | vascular lesions C1253937 | pericardial effusion C1000483 | anemia C0857305 | thrombocytopenic purpura C0743711 | eye lesion C0742115 | cerebritis C0393799 | miller-fisher syndrome C0376293 | stigmata C0272242 | complement deficiency C0265145 | chronic pericarditis with effusion C0263390 | papular mucinosis C0263367 | koebner phenomenon C0262988 | cutaneous vasculitis C0242666 | protein s deficiency C0234962 | pulmonary vasculitis C0234906 | annular erythema C0233401 | psychiatric symptom C0221011 | malignant atrophic papulosis C0162855 | mucinosis C0155773 | portal vein thrombosis C0151205 | periorbital edema C0085932 | bullous skin disease C0085636 | light sensitivity C0042900 | vitiligo C0042373 | vascular disorders C0041327 | pulmonary tuberculosis C0040053 | thrombosis C0040034 | thrombocytopenia C0037285 | skin manifestations C0037284 | skin lesions C0037284 | skin lesion C0037274 | skin disease C0033975 | psychosis C0033774 | pruritus C0032453 | relapsing polychondritis C0031736 | polymorphous light eruption C0031048 | constrictive pericarditis C0030326 | panniculitis C0029166 | oral manifestations C0029118 | opportunistic infection C0027726 | nephrotic syndrome C0027697 | nephritis C0027051 | myocardial infarction C0026848 | myopathy C0024312 | lymphocytopenia C0023223 | leg ulcers C0022658 | renal disease C0022658 | nephropathy C0022408 | arthropathy C0019829 | malignant lymphogranulomatosis C0019080 | hemorrhage C0018784 | sensorineural hearing loss C0017658 | glomerulonephritis C0017181 | gastrointestinal hemorrhage C0017086 | gangrene C0016436 | folliculitides C0016085 | filariasis C0016053 | fibromyalgia C0015458 | progressive hemifacial atrophy C0015230 | rash C0013182 | drug hypersensitivity C0012739 | disseminated intravascular coagulation C0007114 | cancer of the skin C0006840 | moniliasis C0005779 | coagulation disorder C0004610 | bacteremia C0002880 | autoimmune hemolytic anemia C0002171 | alopecia areata |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:42) C0009450 | infection | 35 C0027697 | nephritis | 35 C0040034 | thrombocytopenia | 16 C0017658 | glomerulonephritis | 12 C0020538 | hypertension | 12 C0022658 | renal disease | 11 C0019080 | hemorrhage | 11 C0040053 | thrombosis | 9 C0033975 | psychosis | 9 C0034153 | thrombocytopenic purpura | 9 C0011570 | depression | 8 C0002871 | anemia | 6 C0020542 | pulmonary hypertension | 6 C0022658 | nephropathy | 6 C0027051 | myocardial infarction | 6 C0037284 | skin lesions | 6 C0233401 | psychiatric symptom | 6 C0162855 | mucinosis | 5 C0037285 | skin manifestations | 3 C0015230 | rash | 3 C0037284 | skin lesion | 3 C0030326 | panniculitis | 2 C0272242 | complement deficiency | 2 C0027726 | nephrotic syndrome | 2 C0031046 | pericarditis | 2 C0042900 | vitiligo | 1 C0029166 | oral manifestations | 1 C0017086 | gangrene | 1 C0031039 | pericardial effusion | 1 C0002880 | autoimmune hemolytic anemia | 1 C0042109 | urticaria | 1 C1402315 | vascular lesions | 1 C0004610 | bacteremia | 1 C0340643 | aortic dissection | 1 C0043037 | warts | 1 C0042373 | vascular disorders | 1 C0262988 | cutaneous vasculitis | 1 C0151205 | periorbital edema | 1 C0018784 | sensorineural hearing loss | 1 C0026848 | myopathy | 1 C0263367 | koebner phenomenon | 1 C0022408 | arthropathy | 1 |
Manually Genotype(Total Text Mining Genotypes:0) |
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| (Waiting for update.) |
All Snps(Total Genotypes:21) | |||||||||||||
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| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs10516487 | 21900951 | 55024 | BANK1 | umls:C0409974 | BeFree | The dual effect of the lupus-associated polymorphism rs10516487 on BANK1 gene expression and protein localization. | 0.000542884 | 2012 | BANK1 | 4 | 101829919 | G | T,A |
| rs1143679 | 22586164 | 3684 | ITGAM | umls:C0409974 | BeFree | The rs1143679 (R77H) lupus associated variant of ITGAM (CD11b) impairs complement receptor 3 mediated functions in human monocytes. | 0.002171535 | 2012 | ITGAM | 16 | 31265490 | G | A |
| rs1143679 | 24608226 | 3684 | ITGAM | umls:C0409974 | BeFree | Combined protein- and nucleic acid-level effects of rs1143679 (R77H), a lupus-predisposing variant within ITGAM. | 0.002171535 | 2015 | ITGAM | 16 | 31265490 | G | A |
| rs1270942 | 21952918 | 3663 | IRF5 | umls:C0409974 | BeFree | Importantly, our data suggest that in patients with lupus, the presence of the HLA lupus risk alleles in rs1270942 and rs3131379 increases the odds of also carrying the lupus risk allele in IRF5 (rs2070197) by 17% and 16%, respectively (P = 0.0028 and P = 0.0047, respectively). | 0.01827382 | 2012 | CFB | 6 | 31951083 | A | G |
| rs13023380 | 23441136 | 2547 | XRCC6 | umls:C0409974 | BeFree | DNA carrying the intronic risk allele rs13023380 showed reduced binding efficiency to a cellular protein complex including nucleolin and lupus autoantigen Ku70/80, and showed reduced transcriptional activity in vivo. | 0.000542884 | 2013 | IFIH1 | 2 | 162297853 | G | A |
| rs13023380 | 23441136 | 4691 | NCL | umls:C0409974 | BeFree | DNA carrying the intronic risk allele rs13023380 showed reduced binding efficiency to a cellular protein complex including nucleolin and lupus autoantigen Ku70/80, and showed reduced transcriptional activity in vivo. | 0.000271442 | 2013 | IFIH1 | 2 | 162297853 | G | A |
| rs2070197 | 21952918 | 3663 | IRF5 | umls:C0409974 | BeFree | Importantly, our data suggest that in patients with lupus, the presence of the HLA lupus risk alleles in rs1270942 and rs3131379 increases the odds of also carrying the lupus risk allele in IRF5 (rs2070197) by 17% and 16%, respectively (P = 0.0028 and P = 0.0047, respectively). | 0.01827382 | 2012 | IRF5 | 7 | 128948946 | T | C |
| rs2476601 | 23359562 | 26191 | PTPN22 | umls:C0409974 | BeFree | The protein tyrosine phosphatase LYP, a key regulator of TCR signaling, presents a single nucleotide polymorphism, C1858T, associated with several autoimmune diseases such as type I diabetes, rheumatoid arthritis, and lupus. | 0.026851677 | 2013 | PTPN22;AP4B1-AS1 | 1 | 113834946 | A | G |
| rs2476601 | 18759295 | 26191 | PTPN22 | umls:C0409974 | BeFree | The PTPN22 C1858T polymorphism is associated with skewing of cytokine profiles toward high interferon-alpha activity and low tumor necrosis factor alpha levels in patients with lupus. | 0.026851677 | 2008 | PTPN22;AP4B1-AS1 | 1 | 113834946 | A | G |
| rs2476601 | 16052563 | 26191 | PTPN22 | umls:C0409974 | GAD | [ The R620W polymorphism of the PTPN22 gene is not a major risk allele for SLE susceptibility in our sample of Caucasian individuals from northern America, the UK, or Finland, but it appears to be a risk factor for the concurrent autoimmune diseases of aut] | 0.026851677 | 2005 | PTPN22;AP4B1-AS1 | 1 | 113834946 | A | G |
| rs2476601 | 15273934 | 26191 | PTPN22 | umls:C0409974 | GAD | [Together with recent evidence showing association of this SNP with type 1 diabetes and rheumatoid arthritis, these data provide compelling evidence that PTPN22 plays a fundamental role in regulating the immune system and the development of autoimmunity.] | 0.026851677 | 2004 | PTPN22;AP4B1-AS1 | 1 | 113834946 | A | G |
| rs2476601 | 18759295 | 7124 | TNF | umls:C0409974 | BeFree | The PTPN22 C1858T polymorphism is associated with skewing of cytokine profiles toward high interferon-alpha activity and low tumor necrosis factor alpha levels in patients with lupus. | 0.02036941 | 2008 | PTPN22;AP4B1-AS1 | 1 | 113834946 | A | G |
| rs2476601 | 23359562 | 52 | ACP1 | umls:C0409974 | BeFree | The protein tyrosine phosphatase LYP, a key regulator of TCR signaling, presents a single nucleotide polymorphism, C1858T, associated with several autoimmune diseases such as type I diabetes, rheumatoid arthritis, and lupus. | 0.000271442 | 2013 | PTPN22;AP4B1-AS1 | 1 | 113834946 | A | G |
| rs2476601 | 15759012 | 26191 | PTPN22 | umls:C0409974 | GAD | [Altogether, we have provided further evidence of an association between autoimmune diseases and the 1858C>T polymorphism in PTPN22.] | 0.026851677 | 2005 | PTPN22;AP4B1-AS1 | 1 | 113834946 | A | G |
| rs3131379 | 21952918 | 3663 | IRF5 | umls:C0409974 | BeFree | Importantly, our data suggest that in patients with lupus, the presence of the HLA lupus risk alleles in rs1270942 and rs3131379 increases the odds of also carrying the lupus risk allele in IRF5 (rs2070197) by 17% and 16%, respectively (P = 0.0028 and P = 0.0047, respectively). | 0.01827382 | 2012 | MSH5;MSH5-SAPCD1 | 6 | 31753256 | G | A |
| rs3813946 | 17360460 | 1380 | CR2 | umls:C0409974 | BeFree | Single-nucleotide polymorphism 1 (rs3813946), located in the 5' untranslated region of the CR2 gene, altered transcriptional activity, suggesting a potential mechanism by which CR2 could contribute to the development of lupus. | 0.003181358 | 2007 | CR2 | 1 | 207454348 | T | C |
| rs4649203 | 24070858 | 4792 | NFKBIA | umls:C0409974 | BeFree | We found that these two SNPs (rs8016947 and rs4649203) in two loci (NFKBIA and IL28RA) were associated with psoriasis and SLE with genome-wide significance (Pcombined<5×10(-8) in psoriasis and Pcombined<5×10(-8) in SLE): rs8016947 at NFKBIA (Pcombined-psoriasis=3.90×10(-10), Pcombined-SLE=1.08×10(-13)) and rs4649203 at IL28RA (Pcombined-psoriasis=3.91×10(-12), Pcombined-SLE=9.90×10(-9)). | 0.000271442 | 2014 | NA | 1 | 24193430 | G | A |
| rs4649203 | 24070858 | 163702 | IFNLR1 | umls:C0409974 | BeFree | We found that these two SNPs (rs8016947 and rs4649203) in two loci (NFKBIA and IL28RA) were associated with psoriasis and SLE with genome-wide significance (Pcombined<5×10(-8) in psoriasis and Pcombined<5×10(-8) in SLE): rs8016947 at NFKBIA (Pcombined-psoriasis=3.90×10(-10), Pcombined-SLE=1.08×10(-13)) and rs4649203 at IL28RA (Pcombined-psoriasis=3.91×10(-12), Pcombined-SLE=9.90×10(-9)). | 0.000271442 | 2014 | NA | 1 | 24193430 | G | A |
| rs72556554 | 21937424 | 11277 | TREX1 | umls:C0409974 | BeFree | The TREX1 exonuclease R114H mutation in Aicardi-Goutières syndrome and lupus reveals dimeric structure requirements for DNA degradation activity. | 0.001900093 | 2011 | TREX1 | 3 | 48466996 | G | A,C |
| rs8016947 | 24070858 | 4792 | NFKBIA | umls:C0409974 | BeFree | We found that these two SNPs (rs8016947 and rs4649203) in two loci (NFKBIA and IL28RA) were associated with psoriasis and SLE with genome-wide significance (Pcombined<5×10(-8) in psoriasis and Pcombined<5×10(-8) in SLE): rs8016947 at NFKBIA (Pcombined-psoriasis=3.90×10(-10), Pcombined-SLE=1.08×10(-13)) and rs4649203 at IL28RA (Pcombined-psoriasis=3.91×10(-12), Pcombined-SLE=9.90×10(-9)). | 0.000271442 | 2014 | NA | 14 | 35363460 | T | G |
| rs8016947 | 24070858 | 163702 | IFNLR1 | umls:C0409974 | BeFree | We found that these two SNPs (rs8016947 and rs4649203) in two loci (NFKBIA and IL28RA) were associated with psoriasis and SLE with genome-wide significance (Pcombined<5×10(-8) in psoriasis and Pcombined<5×10(-8) in SLE): rs8016947 at NFKBIA (Pcombined-psoriasis=3.90×10(-10), Pcombined-SLE=1.08×10(-13)) and rs4649203 at IL28RA (Pcombined-psoriasis=3.91×10(-12), Pcombined-SLE=9.90×10(-9)). | 0.000271442 | 2014 | NA | 14 | 35363460 | T | G |
GWASdb Annotation(Total Genotypes:0) | |
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| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:5) | |||||||||||||||||||||||||||||
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| 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 | 195531423 | rs1890645 | T | C | rs1890645 | 20662065 | 4.00E-06 | NA | 2.98 | [1.88-4.73] | 116 European American ancestry cases; 3,351 European American ancestry controls | European American(3467) | ALL(3467) | EUR(3467) | ALL(3467) | Neonatal lupus | HPOID:0002960 | Autoimmunity | DOID:8857 | lupus erythematosus | D008180 | Lupus Erythematosus, Systemic | EFOID:0004537 | neonatal systemic lupus erthematosus | Lupus erythematosus | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | Research Support, U.S. Gov't, Non-P.H.S. |
| 6 | 31448976 | rs3099844 | C | A | rs3099844 | 20662065 | 5.00E-10 | NA | 3.34 | [2.29-4.89] | 116 European American ancestry cases; 3,351 European American ancestry controls | European American(3467) | ALL(3467) | EUR(3467) | ALL(3467) | Neonatal lupus | HPOID:0002960 | Autoimmunity | DOID:8857 | lupus erythematosus | D008180 | Lupus Erythematosus, Systemic | EFOID:0004537 | neonatal systemic lupus erthematosus | Lupus erythematosus | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | Research Support, U.S. Gov't, Non-P.H.S. |
| 10 | 4719796 | rs1391511 | A | G | rs1391511 | 20662065 | 7.00E-06 | NA | 1.84 | [1.41-2.40] | 116 European American ancestry cases; 3,351 European American ancestry controls | European American(3467) | ALL(3467) | EUR(3467) | ALL(3467) | Neonatal lupus | HPOID:0002960 | Autoimmunity | DOID:8857 | lupus erythematosus | D008180 | Lupus Erythematosus, Systemic | EFOID:0004537 | neonatal systemic lupus erthematosus | Lupus erythematosus | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | Research Support, U.S. Gov't, Non-P.H.S. |
| 12 | 84008275 | rs2403106 | A | G | rs2403106 | 20662065 | 3.00E-06 | NA | 2.48 | [1.70-3.61] | 116 European American ancestry cases; 3,351 European American ancestry controls | European American(3467) | ALL(3467) | EUR(3467) | ALL(3467) | Neonatal lupus | HPOID:0002960 | Autoimmunity | DOID:8857 | lupus erythematosus | D008180 | Lupus Erythematosus, Systemic | EFOID:0004537 | neonatal systemic lupus erthematosus | Lupus erythematosus | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | Research Support, U.S. Gov't, Non-P.H.S. |
| 21 | 40056423 | rs743446 | A | C | rs743446 | 20662065 | 5.00E-06 | NA | 2.4 | [1.64-3.49] | 116 European American ancestry cases; 3,351 European American ancestry controls | European American(3467) | ALL(3467) | EUR(3467) | ALL(3467) | Neonatal lupus | HPOID:0002960 | Autoimmunity | DOID:8857 | lupus erythematosus | D008180 | Lupus Erythematosus, Systemic | EFOID:0004537 | neonatal systemic lupus erthematosus | Lupus erythematosus | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | Research Support, U.S. Gov't, Non-P.H.S. |
Mapped by lexical matching(Total Items:0) |
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Mapped by homologous gene(Total Items:0) |
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Chemical(Total Drugs:0) | |
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FDA approved drug and dosage information(Total Drugs:0) | |
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FDA labeling changes(Total Drugs:0) | |
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