eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| hemophagocytic lymphohistiocytosis | ||||
| Disease ID | 384 |
|---|---|
| Disease | hemophagocytic lymphohistiocytosis |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:18) C2364133 | infection C1963099 | myelodysplasia C1168291 | ampulla cardiomyopathy C0948600 | organ failure C0878544 | cardiomyopathy C0876991 | hemophagocytosis C0750131 | varicella zoster infection C0432562 | primary splenic lymphoma C0343900 | disseminated histoplasmosis C0343084 | capillary leak syndrome C0338395 | escherichia coli meningitis C0270922 | demyelinating peripheral neuropathy C0238425 | sickle cell crisis C0235031 | neurologic symptoms C0030312 | pancytopenia C0026987 | myelofibrosis C0021053 | immune disorder C0014070 | encephalomyelitis |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:20) C0024299 | lymphoma | 15 C0009450 | infection | 9 C0041296 | tuberculosis | 4 C0030312 | pancytopenia | 4 C0079731 | b-cell lymphoma | 3 C0032285 | pneumonia | 3 C0079772 | t-cell lymphoma | 3 C0876991 | hemophagocytosis | 2 C0948600 | organ failure | 2 C0343900 | disseminated histoplasmosis | 2 C0019204 | hepatocellular carcinoma | 1 C0014070 | encephalomyelitis | 1 C0042769 | virus infection | 1 C1827561 | disseminated mycobacterium kansasii infection | 1 C0040034 | thrombocytopenia | 1 C0079744 | diffuse large b-cell lymphoma | 1 C0021053 | immune disorder | 1 C0206180 | anaplastic large cell lymphoma | 1 C0023467 | acute myeloid leukemia | 1 C0079731 | b cell lymphoma | 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:11) | |||||||||||||
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| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs104894500 | 17255357 | 5873 | RAB27A | umls:C0024291 | BeFree | Here, we describe a new patient, possessing a hemophagocytic syndrome with a homozygous Q118X nonsense RAB27A mutation. | 0.011073035 | 2007 | RAB27A;LOC105376715 | 15 | 55224004 | G | A |
| rs140260618 | 18496551 | 5551 | PRF1 | umls:C0024291 | BeFree | PRF1 sequencing in 190 patients with multiple sclerosis and 268 controls detected two FLH2-associated variations (A91V, N252S) in both groups and six novel mutations (C999T, G1065A, G1428A, A1620G, G719A, C1069T) in patients. | 0.059979686 | 2008 | PRF1 | 10 | 70598722 | G | A |
| rs145695221 | 18496551 | 5551 | PRF1 | umls:C0024291 | BeFree | PRF1 sequencing in 190 patients with multiple sclerosis and 268 controls detected two FLH2-associated variations (A91V, N252S) in both groups and six novel mutations (C999T, G1065A, G1428A, A1620G, G719A, C1069T) in patients. | 0.059979686 | 2008 | PRF1 | 10 | 70598293 | C | T |
| rs149776121 | 18496551 | 5551 | PRF1 | umls:C0024291 | BeFree | PRF1 sequencing in 190 patients with multiple sclerosis and 268 controls detected two FLH2-associated variations (A91V, N252S) in both groups and six novel mutations (C999T, G1065A, G1428A, A1620G, G719A, C1069T) in patients. | 0.059979686 | 2008 | PRF1 | 10 | 70598101 | T | C |
| rs28933375 | 15755897 | 5551 | PRF1 | umls:C0024291 | BeFree | A functional analysis of the putative polymorphisms A91V and N252S and 22 missense perforin mutations associated with familial hemophagocytic lymphohistiocytosis. | 0.059979686 | 2005 | PRF1 | 10 | 70598966 | T | C |
| rs28933375 | 18496551 | 5551 | PRF1 | umls:C0024291 | BeFree | PRF1 sequencing in 190 patients with multiple sclerosis and 268 controls detected two FLH2-associated variations (A91V, N252S) in both groups and six novel mutations (C999T, G1065A, G1428A, A1620G, G719A, C1069T) in patients. | 0.059979686 | 2008 | PRF1 | 10 | 70598966 | T | C |
| rs35947132 | 15741215 | 5551 | PRF1 | umls:C0024291 | BeFree | The conformational changes and impaired cleavage of A91V perforin are likely to explain the reduced cytotoxicity in CTLs and NK cells from this patient and are likely to contribute to the pathogenesis of HLH. | 0.059979686 | 2005 | PRF1 | 10 | 70600631 | G | A |
| rs35947132 | 18496551 | 5551 | PRF1 | umls:C0024291 | BeFree | PRF1 sequencing in 190 patients with multiple sclerosis and 268 controls detected two FLH2-associated variations (A91V, N252S) in both groups and six novel mutations (C999T, G1065A, G1428A, A1620G, G719A, C1069T) in patients. | 0.059979686 | 2008 | PRF1 | 10 | 70600631 | G | A |
| rs35947132 | 16956828 | 5551 | PRF1 | umls:C0024291 | BeFree | Familial hemophagocytic lymphohistiocytosis in an adult patient homozygous for A91V in the perforin gene, with tuberculosis infection. | 0.059979686 | 2006 | PRF1 | 10 | 70600631 | G | A |
| rs35947132 | 15755897 | 5551 | PRF1 | umls:C0024291 | BeFree | A functional analysis of the putative polymorphisms A91V and N252S and 22 missense perforin mutations associated with familial hemophagocytic lymphohistiocytosis. | 0.059979686 | 2005 | PRF1 | 10 | 70600631 | G | A |
| rs35947132 | 24072243 | 5551 | PRF1 | umls:C0024291 | BeFree | A monoallelic Ala91Val mutation was found in the PRF1 gene, but the contribution of this mutation to HLH remains controversial. | 0.059979686 | 2014 | PRF1 | 10 | 70600631 | G | A |
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 | 384 |
|---|---|
| Disease | hemophagocytic lymphohistiocytosis |
| Case | (Waiting for update.) |