eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| aicardi-goutieres syndrome | ||||
| Disease ID | 1829 |
|---|---|
| Disease | aicardi-goutieres syndrome |
| Synonym | aicardi goutieres syndrome aicardi goutieres syndrome (disorder) |
| DOID | |
| UMLS | C0393591 |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:6) C0013421 | dystonia | 1 C0021053 | immune disease | 1 C0270612 | leukoencephalopathy | 1 C0024141 | systemic lupus erythematosus | 1 C0014544 | epilepsy | 1 C0409974 | lupus erythematosus | 1 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:7) 11277 | TREX1 | GHR;ORPHANET;UNIPROT;UniProtKB-KW 64135 | IFIH1 | ORPHANET;UniProtKB-KW 25939 | SAMHD1 | GHR;ORPHANET;UNIPROT;UniProtKB-KW 79621 | RNASEH2B | GHR;ORPHANET;UNIPROT;UniProtKB-KW 103 | ADAR | ORPHANET;UniProtKB-KW 84153 | RNASEH2C | GHR;ORPHANET;UNIPROT;UniProtKB-KW 10535 | RNASEH2A | GHR;ORPHANET;UNIPROT;UniProtKB-KW |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:41) 100 | ADA | 1.741 | DISEASES 103 | ADAR | 5.68 | DISEASES 9447 | AIM2 | 1.456 | DISEASES 273 | AMPH | 1.333 | DISEASES 26047 | CNTNAP2 | 1.18 | DISEASES 1282 | COL4A1 | 2.932 | DISEASES 8530 | CST7 | 4.28 | DISEASES 8451 | CUL4A | 1.934 | DISEASES 23586 | DDX58 | 2.383 | DISEASES 9191 | DEDD | 1.815 | DISEASES 1804 | DPP6 | 1.982 | DISEASES 1915 | EEF1A1 | 1.455 | DISEASES 2081 | ERN1 | 1.345 | DISEASES 2323 | FLT3LG | 1.383 | DISEASES 2643 | GCH1 | 1.137 | DISEASES 8337 | HIST2H2AA3 | 1.891 | DISEASES 8338 | HIST2H2AC | 1.891 | DISEASES 3428 | IFI16 | 2.854 | DISEASES 3451 | IFNA17 | 1.217 | DISEASES 3456 | IFNB1 | 2.279 | DISEASES 9636 | ISG15 | 2.378 | DISEASES 83700 | JAM3 | 2.034 | DISEASES 9211 | LGI1 | 1.021 | DISEASES 57506 | MAVS | 2.973 | DISEASES 115004 | MB21D1 | 4.432 | DISEASES 26227 | PHGDH | 1.123 | DISEASES 11232 | POLG2 | 2.354 | DISEASES 55005 | RMND1 | 2.863 | DISEASES 79621 | RNASEH2B | 6.737 | DISEASES 6041 | RNASEL | 2.19 | DISEASES 8635 | RNASET2 | 3.715 | DISEASES 91543 | RSAD2 | 2.22 | DISEASES 9152 | SLC6A5 | 2.274 | DISEASES 6082 | SNORD20 | 1.376 | DISEASES 8802 | SUCLG1 | 2.14 | DISEASES 51284 | TLR7 | 2.048 | DISEASES 54106 | TLR9 | 1.8 | DISEASES 340061 | TMEM173 | 4.187 | DISEASES 11277 | TREX1 | 7.409 | DISEASES 7336 | UBE2V2 | 2.794 | DISEASES 29979 | UBQLN1 | 1.999 | DISEASES |
| Locus | (Waiting for update.) |
| Disease ID | 1829 |
|---|---|
| Disease | aicardi-goutieres syndrome |
| Integrated Phenotype | (Waiting for update.) |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:6) HP:0002352 | Leukoencephalopathy | 1 HP:0002725 | Systemic lupus erythematosus | 1 HP:0002385 | Paraparesis | 1 HP:0001332 | Dystonia | 1 HP:0002960 | Autoimmune condition | 1 HP:0002313 | Spastic paraparesis | 1 |
| Disease ID | 1829 |
|---|---|
| Disease | aicardi-goutieres syndrome |
| Manually Symptom | (Waiting for update.) |
| Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Manually Genotypes:1) | |||
|---|---|---|---|
| Gene | Mutation | DOI | Article Title |
| TREX1 | chr3:g.48508683G>A, heterozygous;NM_016381.4, NP_057465.1;c.794G>A, p.(Trp265*);chr3:g.48508112dupG, heterozygous;NM_016381.4, NP_057465.1;c.223dupG, p.(Glu75Glyfs*82) | doi:10.1038/gim.2016.1 | A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:4) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs121908117 | 20799324 | 11277 | TREX1 | umls:C0393591 | BeFree | A de novo p.Asp18Asn mutation in TREX1 in a patient with Aicardi-Goutières syndrome. | 0.12434307 | 2010 | TREX1 | 3 | 48466707 | G | A |
| rs267607027 | 20842748 | 25939 | SAMHD1 | umls:C0393591 | BeFree | Cerebral arterial stenoses and stroke: novel features of Aicardi-Goutières syndrome caused by the Arg164X mutation in SAMHD1 are associated with altered cytokine expression. | 0.125428837 | 2010 | SAMHD1 | 20 | 36935048 | G | A |
| rs72556554 | 21937424 | 11277 | TREX1 | umls:C0393591 | BeFree | The TREX1 exonuclease R114H mutation in Aicardi-Goutières syndrome and lupus reveals dimeric structure requirements for DNA degradation activity. | 0.12434307 | 2011 | TREX1 | 3 | 48466996 | G | A,C |
| rs78846775 | 24616097 | 11277 | TREX1 | umls:C0393591 | BeFree | Mutations in TREX1 at positions Asp-18 and Asp-200 to His and Asn exhibit dominant autoimmune phenotypes associated with the clinical disorders familial chilblain lupus and Aicardi-Goutières syndrome. | 0.12434307 | 2014 | TREX1 | 3 | 48467253 | G | A,T |
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 | 1829 |
|---|---|
| Disease | aicardi-goutieres syndrome |
| Case | (Waiting for update.) |