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encyclopedia of Rare Disease Annotation for Precision Medicine



   adult dermatomyositis
  

Disease ID 1727
Disease adult dermatomyositis
Definition
a muscle disease that causes inflammation and a skin rash
Synonym
adult onset dermatomyositis
adult onset dermatomyositis (disorder)
adult type dermatomyositides
adult type dermatomyositis
adult type dermatomyositis (disorder)
dermatomyositides, adult type
dermatomyositis, adult type
DOID
UMLS
C0221056
SNOMED-CT
Comorbidity
UMLS | Disease | Sentences' Count(Total Sentences:2)
C0948265  |  metabolic syndrome  |  1
C0042769  |  virus infection  |  1
Curated Gene(Waiting for update.)
Inferring Gene(Waiting for update.)
Text Mined Gene
Entrez_id | Symbol | Score | Resource(Total Genes:20)
127343  |  DMBX1  |  3.879  |  DISEASES
2625  |  GATA3  |  1.292  |  DISEASES
3437  |  IFIT3  |  3.063  |  DISEASES
112744  |  IL17F  |  1.883  |  DISEASES
3662  |  IRF4  |  1.891  |  DISEASES
3665  |  IRF7  |  2.254  |  DISEASES
9636  |  ISG15  |  2.382  |  DISEASES
4153  |  MBL2  |  2.045  |  DISEASES
27030  |  MLH3  |  2.931  |  DISEASES
23515  |  MORC3  |  4.534  |  DISEASES
4599  |  MX1  |  1.623  |  DISEASES
5334  |  PLCL1  |  3.629  |  DISEASES
5378  |  PMS1  |  1.909  |  DISEASES
51284  |  TLR7  |  1.538  |  DISEASES
54106  |  TLR9  |  1.289  |  DISEASES
7124  |  TNF  |  1.384  |  DISEASES
7133  |  TNFRSF1B  |  1.034  |  DISEASES
8718  |  TNFRSF25  |  1.03  |  DISEASES
8805  |  TRIM24  |  2.9  |  DISEASES
51592  |  TRIM33  |  1.953  |  DISEASES
Locus(Waiting for update.)
Disease ID 1727
Disease adult dermatomyositis
Integrated Phenotype(Waiting for update.)
Text Mined Phenotype
HPO | Name | Sentences' Count(Total Phenotypes:1)
HP:0003761  |  Calcinosis  |  1
Disease ID 1727
Disease adult dermatomyositis
Manually Symptom
UMLS  | Name(Total Manually Symptoms:10)
C1963215  |  pneumothorax
C1962966  |  retinopathy
C1535950  |  gastrointestinal inflammation
C0281839  |  esophageal rupture
C0155765  |  microangiopathy
C0152084  |  jaccoud's arthropathy
C0085273  |  parvovirus b19 infection
C0033774  |  pruritus
C0032266  |  pneumatosis cystoides intestinalis
C0006663  |  calcinosis
Text Mined Symptom
UMLS | Name | Sentences' Count(Total Symptoms:1)
C0006663  |  calcinosis  |  1
Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)
Text Mining Genotype(Total Genotypes:0)
(Waiting for update.)
All Snps(Total Genotypes:14)
snpId pubmedId geneId geneSymbol diseaseId sourceId sentence score Year geneSymbol_dbSNP CHROMOSOME POS REF ALT
rs10069690263205936366CCL21umls:C0221056BeFreeChinese polymyositis (PM) patients (n =291), dermatomyositis (DM) patients (n=526) and ethnically-matched healthy controls (n =968) were genotyped for the CCL21 region SNPs (rs951005 and rs2492358), ERBB3 (rs2292239 and rs11171739), and TERT (rs2853676 and rs10069690), by using the Sequenom MassArray system.0.0002714422015TERT51279675CT
rs10069690263205937015TERTumls:C0221056BeFreeChinese polymyositis (PM) patients (n =291), dermatomyositis (DM) patients (n=526) and ethnically-matched healthy controls (n =968) were genotyped for the CCL21 region SNPs (rs951005 and rs2492358), ERBB3 (rs2292239 and rs11171739), and TERT (rs2853676 and rs10069690), by using the Sequenom MassArray system.0.0002714422015TERT51279675CT
rs11171739263205937015TERTumls:C0221056BeFreeChinese polymyositis (PM) patients (n =291), dermatomyositis (DM) patients (n=526) and ethnically-matched healthy controls (n =968) were genotyped for the CCL21 region SNPs (rs951005 and rs2492358), ERBB3 (rs2292239 and rs11171739), and TERT (rs2853676 and rs10069690), by using the Sequenom MassArray system.0.0002714422015NA1256076841CT
rs11171739263205936366CCL21umls:C0221056BeFreeChinese polymyositis (PM) patients (n =291), dermatomyositis (DM) patients (n=526) and ethnically-matched healthy controls (n =968) were genotyped for the CCL21 region SNPs (rs951005 and rs2492358), ERBB3 (rs2292239 and rs11171739), and TERT (rs2853676 and rs10069690), by using the Sequenom MassArray system.0.0002714422015NA1256076841CT
rs132771132463267183648FAM167Aumls:C0221056BeFreeThe C8orf13-BLK rs13277113A allele was associated with overall polymyositis/dermatomyositis (P<0.001, odds ratio [OR] 1.44, 95% confidence interval [CI] 1.19-1.73), as well as polymyositis (P = 0.011, OR 1.32, 95% CI 1.06-1.64) and dermatomyositis (P<0.001, OR 1.64, 95% CI 1.26-2.12).0.0005428842014NA811491677GA
rs1327711324632671640BLKumls:C0221056BeFreeThe C8orf13-BLK rs13277113A allele was associated with overall polymyositis/dermatomyositis (P<0.001, odds ratio [OR] 1.44, 95% confidence interval [CI] 1.19-1.73), as well as polymyositis (P = 0.011, OR 1.32, 95% CI 1.06-1.64) and dermatomyositis (P<0.001, OR 1.64, 95% CI 1.26-2.12).0.0005428842014NA811491677GA
rs2292239263205937015TERTumls:C0221056BeFreeChinese polymyositis (PM) patients (n =291), dermatomyositis (DM) patients (n=526) and ethnically-matched healthy controls (n =968) were genotyped for the CCL21 region SNPs (rs951005 and rs2492358), ERBB3 (rs2292239 and rs11171739), and TERT (rs2853676 and rs10069690), by using the Sequenom MassArray system.0.0002714422015ERBB31256088396TG
rs2292239263205936366CCL21umls:C0221056BeFreeChinese polymyositis (PM) patients (n =291), dermatomyositis (DM) patients (n=526) and ethnically-matched healthy controls (n =968) were genotyped for the CCL21 region SNPs (rs951005 and rs2492358), ERBB3 (rs2292239 and rs11171739), and TERT (rs2853676 and rs10069690), by using the Sequenom MassArray system.0.0002714422015ERBB31256088396TG
rs2492358263205937015TERTumls:C0221056BeFreeChinese polymyositis (PM) patients (n =291), dermatomyositis (DM) patients (n=526) and ethnically-matched healthy controls (n =968) were genotyped for the CCL21 region SNPs (rs951005 and rs2492358), ERBB3 (rs2292239 and rs11171739), and TERT (rs2853676 and rs10069690), by using the Sequenom MassArray system.0.0002714422015NA934737831CT
rs2492358263205936366CCL21umls:C0221056BeFreeChinese polymyositis (PM) patients (n =291), dermatomyositis (DM) patients (n=526) and ethnically-matched healthy controls (n =968) were genotyped for the CCL21 region SNPs (rs951005 and rs2492358), ERBB3 (rs2292239 and rs11171739), and TERT (rs2853676 and rs10069690), by using the Sequenom MassArray system.0.0002714422015NA934737831CT
rs2853676263205936366CCL21umls:C0221056BeFreeChinese polymyositis (PM) patients (n =291), dermatomyositis (DM) patients (n=526) and ethnically-matched healthy controls (n =968) were genotyped for the CCL21 region SNPs (rs951005 and rs2492358), ERBB3 (rs2292239 and rs11171739), and TERT (rs2853676 and rs10069690), by using the Sequenom MassArray system.0.0002714422015TERT51288432TC
rs2853676263205937015TERTumls:C0221056BeFreeChinese polymyositis (PM) patients (n =291), dermatomyositis (DM) patients (n=526) and ethnically-matched healthy controls (n =968) were genotyped for the CCL21 region SNPs (rs951005 and rs2492358), ERBB3 (rs2292239 and rs11171739), and TERT (rs2853676 and rs10069690), by using the Sequenom MassArray system.0.0002714422015TERT51288432TC
rs951005263205937015TERTumls:C0221056BeFreeChinese polymyositis (PM) patients (n =291), dermatomyositis (DM) patients (n=526) and ethnically-matched healthy controls (n =968) were genotyped for the CCL21 region SNPs (rs951005 and rs2492358), ERBB3 (rs2292239 and rs11171739), and TERT (rs2853676 and rs10069690), by using the Sequenom MassArray system.0.0002714422015NA934743684GA
rs951005263205936366CCL21umls:C0221056BeFreeChinese polymyositis (PM) patients (n =291), dermatomyositis (DM) patients (n=526) and ethnically-matched healthy controls (n =968) were genotyped for the CCL21 region SNPs (rs951005 and rs2492358), ERBB3 (rs2292239 and rs11171739), and TERT (rs2853676 and rs10069690), by using the Sequenom MassArray system.0.0002714422015NA934743684GA
GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)
GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)
Mapped by lexical matching(Total Items:0)
(Waiting for update.)
Mapped by homologous gene(Total Items:0)
(Waiting for update.)
Disease ID 1727
Disease adult dermatomyositis
Case(Waiting for update.)