eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| hypoprothrombinemia | ||||
| Disease ID | 1025 |
|---|---|
| Disease | hypoprothrombinemia |
| Definition | Absence or reduced levels of PROTHROMBIN in the blood. |
| Synonym | defic factor ii deficiencies, factor ii deficiencies, prothrombin deficiency, factor ii deficiency, prothrombin factor ii defic factor ii deficiencies factor ii deficiency hypoprothrombinemias hypoprothrombinemias [disease/finding] inherited factor ii deficiency prothrombin defic prothrombin deficiencies prothrombin deficiency prothrombin deficiency, congenital |
| Orphanet | |
| OMIM | |
| DOID | |
| UMLS | C0020640 |
| MeSH | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:4) C0677607 | hashimoto's thyroiditis | 1 C0040147 | thyroiditis | 1 C0002871 | anemia | 1 C0020640 | hypoprothrombinemia | 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:8) |
| Locus | (Waiting for update.) |
| Disease ID | 1025 |
|---|---|
| Disease | hypoprothrombinemia |
| Integrated Phenotype | (Waiting for update.) |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:5) HP:0002240 | Enlarged liver | 1 HP:0001903 | Anemia | 1 HP:0000872 | Hashimoto's thyroiditis | 1 HP:0100646 | Thyroiditis | 1 HP:0008151 | Prolonged prothrombin time | 1 |
| Disease ID | 1025 |
|---|---|
| Disease | hypoprothrombinemia |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:3) |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:2) |
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 |
| rs387906522 | NA | 2147 | F2 | umls:C0020640 | CLINVAR | NA | 0.494068827 | NA | F2 | 11 | 46723421 | - | T |
| rs62623459 | 22028381 | 2147 | F2 | umls:C0020640 | UNIPROT | Quantitative detection of single amino acid polymorphisms by targeted proteomics. | 0.494068827 | 2011 | F2 | 11 | 46725897 | G | 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:0) |
|---|
| (Waiting for update.) |
| Disease ID | 1025 |
|---|---|
| Disease | hypoprothrombinemia |
| Case | (Waiting for update.) |