eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| afibrinogenemia | ||||
| Disease ID | 1701 |
|---|---|
| Disease | afibrinogenemia |
| Definition | A deficiency or absence of FIBRINOGEN in the blood. |
| Synonym | afibrinogenaemia afibrinogenemia (disorder) afibrinogenemia [disease/finding] afibrinogenemias defic fibrinogen deficiency factor i deficiency, factor i deficiency, fibrinogen factor i deficiency factor i deficiency, complete fibrinogen defic fibrinogen deficiencies fibrinogen deficiency fibrinogen deficiency (disorder) |
| DOID | |
| UMLS | C0001733 |
| MeSH | |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:3) |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:4) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | (Waiting for update.) |
| Locus | (Waiting for update.) |
| Disease ID | 1701 |
|---|---|
| Disease | afibrinogenemia |
| Integrated Phenotype | (Waiting for update.) |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:3) |
| Disease ID | 1701 |
|---|---|
| Disease | afibrinogenemia |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:5) |
| 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 |
| rs121964912 | NA | 3426 | CFI | umls:C0001733 | CLINVAR | NA | 0.120542884 | NA | CFI | 4 | 109746398 | T | A |
| rs121964916 | NA | 3426 | CFI | umls:C0001733 | CLINVAR | NA | 0.120542884 | NA | CFI | 4 | 109760567 | C | 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 | 1701 |
|---|---|
| Disease | afibrinogenemia |
| Case | (Waiting for update.) |