eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| brooke-spiegler syndrome | ||||
| Disease ID | 941 |
|---|---|
| Disease | brooke-spiegler syndrome |
| Synonym | brooke-spiegler syndrome (disorder) spiegler-brooke syndrome |
| Orphanet | |
| OMIM | |
| DOID | |
| UMLS | C1857941 |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:4) C0007117 | basal cell carcinoma | 1 C0334342 | adnexal tumor | 1 C0007117 | basal cell carcinomas | 1 C0334347 | spiradenomas | 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:10) 4345 | CD200 | 2.075 | DISEASES 387836 | CLEC2A | 2.286 | DISEASES 8517 | IKBKG | 2.659 | DISEASES 3875 | KRT18 | 1.246 | DISEASES 3880 | KRT19 | 1.854 | DISEASES 5599 | MAPK8 | 1.84 | DISEASES 4781 | NFIB | 3.569 | DISEASES 5727 | PTCH1 | 2.198 | DISEASES 7189 | TRAF6 | 1.768 | DISEASES 7874 | USP7 | 2.6 | DISEASES |
| Locus | (Waiting for update.) |
| Disease ID | 941 |
|---|---|
| Disease | brooke-spiegler syndrome |
| Integrated Phenotype | (Waiting for update.) |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:2) |
| Disease ID | 941 |
|---|---|
| Disease | brooke-spiegler syndrome |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:3) |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:3) |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
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 |
| rs121908389 | NA | 1540 | CYLD | umls:C1857941 | CLINVAR | NA | 0.245157396 | NA | CYLD;LOC105371251 | 16 | 50791689 | A | G |
| rs121908390 | NA | 1540 | CYLD | umls:C1857941 | CLINVAR | NA | 0.245157396 | NA | CYLD;LOC105371251 | 16 | 50796443 | C | G,T |
| rs121908390 | 24559443 | 1540 | CYLD | umls:C1857941 | BeFree | Brooke-Spiegler syndrome tumor spectrum beyond the skin: a patient carrying germline R936X CYLD mutation and a somatic CYLD mutation in Brenner tumor. | 0.245157396 | 2014 | CYLD;LOC105371251 | 16 | 50796443 | C | G,T |
| rs121913478 | 22585574 | 2263 | FGFR2 | umls:C1857941 | BeFree | We developed a mouse model of BSS harboring a FGFR2 Y394C mutation and identified p38 MAPK as an important signaling pathway mediating these abnormalities. | 0.000814326 | 2012 | FGFR2 | 10 | 121515280 | T | C |
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 | 941 |
|---|---|
| Disease | brooke-spiegler syndrome |
| Case | (Waiting for update.) |