eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| pancytopenia | ||||
| Disease ID | 946 |
|---|---|
| Disease | pancytopenia |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:33) C2707258 | infections C2364133 | infection C1963279 | viral hepatitis C1963099 | myelodysplasia C1827561 | disseminated mycobacterium kansasii infection C1692886 | septic arthritis C1510471 | vitamin deficiency C1420725 | thymoma C1090821 | sepsis C1027109 | scleroderma C0948600 | organ failure C0743841 | febrile illness C0343387 | neutropenic enterocolitis C0278847 | non-invasive thymoma C0267373 | intestinal bleeding C0242342 | sheehan's syndrome C0240318 | mediastinal mass C0043325 | xanthomatosis C0041321 | miliary tuberculosis C0040188 | tic disorder C0036690 | septicemia C0032285 | pneumonia C0026946 | fungal infection C0024314 | lymphoproliferative disorder C0023462 | malignant megakaryocytosis C0023380 | lethargy C0021345 | infectious mononucleosis C0021051 | immunodeficiency C0020981 | immunoblastic lymphadenopathy C0020550 | hyperthyroidism C0019214 | hepatosplenomegaly C0018213 | graves-basedow disease C0015970 | fever of unknown origin |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:17) C0030312 | pancytopenia | 8 C0009450 | infection | 8 C0015625 | fanconi anemia | 7 C0002871 | anemia | 7 C0040034 | thrombocytopenia | 6 C0020550 | hyperthyroidism | 4 C0019214 | hepatosplenomegaly | 4 C0036690 | sepsis | 4 C0796095 | c syndrome | 3 C0242342 | sheehan's syndrome | 2 C0040188 | tic disorder | 2 C0026946 | fungal infection | 1 C1839611 | n syndrome | 1 C0948600 | organ failure | 1 C0040100 | thymoma | 1 C0027947 | neutropenia | 1 C0041321 | miliary tuberculosis | 1 |
Manually Genotype(Total Text Mining Genotypes:0) |
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| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
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| (Waiting for update.) | |
All Snps(Total Genotypes:3) | |||||||||||||
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| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs28936072 | 12437656 | 147495 | APCDD1 | umls:C0030312 | BeFree | We report a novel missense mutation in DKC1 exon 3 (T113-->C, Ile38Thr) in a Sardinian infant with XL-HHS in whom the disease was characterized by 'T+B-NK-' severe combined immunodeficiency and bone marrow failure. | 0.000271442 | 2002 | DKC1 | X | 154765472 | T | A,C,G |
| rs28936072 | 12437656 | 2591 | GALNT3 | umls:C0030312 | BeFree | We report a novel missense mutation in DKC1 exon 3 (T113-->C, Ile38Thr) in a Sardinian infant with XL-HHS in whom the disease was characterized by 'T+B-NK-' severe combined immunodeficiency and bone marrow failure. | 0.000271442 | 2002 | DKC1 | X | 154765472 | T | A,C,G |
| rs28936072 | 12437656 | 1736 | DKC1 | umls:C0030312 | BeFree | We report a novel missense mutation in DKC1 exon 3 (T113-->C, Ile38Thr) in a Sardinian infant with XL-HHS in whom the disease was characterized by 'T+B-NK-' severe combined immunodeficiency and bone marrow failure. | 0.001085767 | 2002 | DKC1 | X | 154765472 | T | A,C,G |
GWASdb Annotation(Total Genotypes:0) | |
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| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
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| (Waiting for update.) | |
Mapped by lexical matching(Total Items:0) |
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| (Waiting for update.) |
Mapped by homologous gene(Total Items:0) |
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| (Waiting for update.) |
| Disease ID | 946 |
|---|---|
| Disease | pancytopenia |
| Case | (Waiting for update.) |