eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| stormorken syndrome | ||||
| Disease ID | 1969 |
|---|---|
| Disease | stormorken syndrome |
| Synonym | stormorken-sjaastad-langslet syndrome strmk thrombocytopathy, asplenia and miosis thrombocytopathy, asplenia and miosis (disorder) thrombocytopathy, asplenia, and miosis york platelet syndrome yps |
| Orphanet | |
| OMIM | |
| DOID | |
| UMLS | C1861451 |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:1) |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:5) |
| Locus | (Waiting for update.) |
| Disease ID | 1969 |
|---|---|
| Disease | stormorken syndrome |
| Integrated Phenotype | (Waiting for update.) |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:1) |
| Disease ID | 1969 |
|---|---|
| Disease | stormorken syndrome |
| Manually Symptom | (Waiting for update.) |
| Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:2) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs483352867 | NA | 6786 | STIM1 | umls:C1861451 | CLINVAR | NA | 0.360814326 | NA | STIM1 | 11 | 4074620 | C | T |
| rs527236030 | NA | 6786 | STIM1 | umls:C1861451 | CLINVAR | NA | 0.360814326 | NA | STIM1 | 11 | 4023945 | 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 | 1969 |
|---|---|
| Disease | stormorken syndrome |
| Case | (Waiting for update.) |