eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| encephalopathy | ||||
| Disease ID | 1256 |
|---|---|
| Disease | encephalopathy |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:19) C2364133 | infection C0796110 | w syndrome C0796095 | c syndrome C0700208 | scoliosis C0426768 | o sign C0342776 | complex i deficiency C0270921 | axonal neuropathy C0263390 | scleromyxedema C0260662 | hearing disorders C0235031 | neurological symptoms C0162700 | tick-borne diseases C0085273 | parvovirus b19 infection C0040188 | tic disorder C0036572 | seizures C0035400 | reye's syndrome C0025362 | mental retardation C0024588 | malignant hypertension C0019158 | hepatitis C0001125 | lactic acidosis |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:10) C0036572 | seizures | 82 C0009450 | infection | 27 C0001125 | lactic acidosis | 19 C0796095 | c syndrome | 10 C0019158 | hepatitis | 7 C0426768 | o sign | 5 C0025362 | mental retardation | 4 C0085273 | parvovirus b19 infection | 2 C0235031 | neurological symptoms | 2 C0040188 | tic disorder | 1 |
Manually Genotype(Total Manually Genotypes:1) | |||
|---|---|---|---|
| Gene | Mutation | DOI | Article Title |
| SLC13A5 | NM_177550.4:c.1227dup: p.(Ile410Hisfs*13) | doi:10.1038/gim.2016.155 | Increasing the sensitivity of clinical exome sequencing through improved filtration strategy |
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 |
| rs118203933 | 15327960 | 760 | CA2 | umls:C0085584 | BeFree | Unfolding a folding disease: folding, misfolding and aggregation of the marble brain syndrome-associated mutant H107Y of human carbonic anhydrase II. | 0.000271442 | 2004 | CA2 | 8 | 85473779 | C | T |
| rs28934906 | 12719401 | 4204 | MECP2 | umls:C0085584 | BeFree | Sporadic case of fatal encephalopathy with neonatal onset associated with a T158M missense mutation in MECP2. | 0.005157396 | 2003 | MECP2 | X | 154031355 | G | A |
| rs28934906 | 17236109 | 4204 | MECP2 | umls:C0085584 | BeFree | The phenotypes show a strong resemblance, and might in fact represent a clinical-genetic entity of the T158M mutation within the complex of congenital encephalopathies in males with MeCP2 mutations. | 0.005157396 | 2006 | MECP2 | X | 154031355 | G | A |
| rs74315413 | 10953183 | 5621 | PRNP | umls:C0085584 | BeFree | Inherited prion encephalopathy associated with the novel PRNP H187R mutation: a clinical study. | 0.005157396 | 2000 | PRNP | 20 | 4699780 | A | G |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:0) |
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| (Waiting for update.) |
Mapped by homologous gene(Total Items:0) |
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| (Waiting for update.) |
| Disease ID | 1256 |
|---|---|
| Disease | encephalopathy |
| Case | (Waiting for update.) |