eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| dowling-degos disease | ||||
| Disease ID | 1241 |
|---|---|
| Disease | dowling-degos disease |
| Synonym | dark dot disease ddd1 dowling-degos disease 1 dowling-degos-kitamura disease reticular pigment anomaly of flexures |
| Orphanet | |
| OMIM | |
| DOID | |
| UMLS | C3714534 |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:2) |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:6) |
| Locus | Symbol | Locus(Total Locus:3) |
| Disease ID | 1241 |
|---|---|
| Disease | dowling-degos disease |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:1) HP:0007456 | Progressive reticulate hyperpigmentation |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:3) |
| Disease ID | 1241 |
|---|---|
| Disease | dowling-degos disease |
| 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:1) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs58751565 | NA | 3852 | KRT5 | umls:C3714534 | CLINVAR | NA | 0.242985861 | NA | KRT5 | 12 | 52520283 | G | T,A |
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:1) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0007456 | Progressive reticulate hyperpigmentation | MP:0012498 | abnormal cardiogenic plate morphology | any structural anomaly of the splanchnic mesodermal thickening which forms cranial and lateral to the developing neural plate; angiogenic cell clusters (aka angioblastic cords) located in a horse-shoe shape configuration in the cardiogenic plate coalesce |
| Disease ID | 1241 |
|---|---|
| Disease | dowling-degos disease |
| Case | (Waiting for update.) |