PedAM
Pediatric Disease Annotations & Medicines
| wiskott-aldrich syndrome | ||||
| Disease ID | 105 |
|---|---|
| Disease | wiskott-aldrich syndrome |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:61) HP:0011675 | Arrhythmia HP:0002037 | Inflammation of the large intestine HP:0000389 | Chronic otitis media HP:0002573 | Bloody diarrhea HP:0000979 | Purpura HP:0007420 | Spontaneous hematomas HP:0011875 | Abnormal platelet morphology HP:0100820 | Glomerulopathy HP:0000964 | Eczema HP:0001879 | Abnormality of eosinophils HP:0009830 | Peripheral neuropathy HP:0001025 | Urticaria HP:0001935 | Microcytic anemia HP:0001878 | Hemolytic anemia HP:0001945 | Fever HP:0000778 | Hypoplasia of the thymus HP:0002573 | Hematochezia HP:0002960 | Autoimmunity HP:0000498 | Blepharitis HP:0003010 | Prolonged bleeding time HP:0011029 | Internal hemorrhage HP:0100774 | Hyperostosis HP:0000967 | Petechiae HP:0200042 | Skin ulcer HP:0000246 | Sinusitis HP:0000140 | Abnormality of the menstrual cycle HP:0001888 | Lymphopenia HP:0005537 | Small platelet size HP:0002094 | Dyspnea HP:0002664 | Neoplasm HP:0005558 | Chronic leukemia HP:0002248 | Hematemesis HP:0006535 | Recurrent intrapulmonary hemorrhage HP:0100749 | Chest pain HP:0001645 | Sudden cardiac death HP:0001873 | Thrombocytopenia HP:0100806 | Sepsis HP:0012378 | Fatigue HP:0002633 | Vasculitis HP:0000509 | Conjunctivitis HP:0000421 | Epistaxis HP:0000225 | Gingival bleeding HP:0001369 | Arthritis HP:0000491 | Keratitis HP:0001328 | Specific learning disability HP:0002205 | Recurrent respiratory infections HP:0001903 | Anemia HP:0002665 | Lymphoma HP:0006510 | Chronic obstructive pulmonary disease HP:0000112 | Nephropathy HP:0002028 | Chronic diarrhea HP:0001287 | Meningitis HP:0001875 | Neutropenia HP:0000388 | Otitis media HP:0002664 | Neoplasia HP:0001873 | Low platelet count HP:0002488 | Acute leukemia HP:0002721 | Immunodeficiency HP:0000978 | Bruising susceptibility HP:0011869 | Abnormal platelet function HP:0002170 | Intracranial hemorrhage |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:17) HP:0002665 | Lymphoma | 4 HP:0012189 | Hodgkin disease | 2 HP:0001873 | Low platelet count | 2 HP:0002960 | Autoimmune condition | 2 HP:0001369 | Arthritis | 1 HP:0000112 | Nephropathy | 1 HP:0004954 | Descending aortic aneurysm | 1 HP:0004942 | Aortic aneurysm | 1 HP:0002617 | Aneurysmal dilatation | 1 HP:0000964 | Eczema | 1 HP:0012191 | B-cell lymphoma | 1 HP:0002583 | Colitis | 1 HP:0001892 | Bleeding diathesis | 1 HP:0012539 | Non-Hodgkin lymphoma | 1 HP:0001888 | Lymphocytopenia | 1 HP:0000099 | Glomerular nephritis | 1 HP:0012727 | Thoracic aortic aneurysm | 1 |
| Disease ID | 105 |
|---|---|
| Disease | wiskott-aldrich syndrome |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:25) C1334680 | mediastinal seminoma C1332607 | sarcoma of the brain C1304506 | microvenular haemangioma C1136085 | monoclonal gammopathy C0850497 | immune deficiency C0566602 | primary sclerosing cholangitis C0267548 | ileocolic intussusception C0162872 | thoracic aortic aneurysms C0162872 | thoracic aortic aneurysm C0040034 | thrombocytopenia C0039263 | takayasu's arteritis C0034150 | purpura C0032305 | pneumocystis carinii pneumonia C0026691 | kawasaki disease C0024314 | lymphoproliferative disorder C0024299 | lymphomas C0024291 | haemophagocytic lymphohistiocytosis C0022568 | keratitis C0019829 | hodgkin's disease C0019348 | herpes simplex C0017661 | iga glomerulonephritis C0013595 | eczematoid dermatitis C0013595 | eczema C0009324 | ulcerative colitis C0002880 | autoimmune hemolytic anemia |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:3) |
Manually Genotype(Total Text Mining Genotypes:0) |
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| (Waiting for update.) |
All Snps(Total Genotypes:10) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs132630268 | NA | 7454 | WAS | umls:C0043194 | CLINVAR | NA | 0.650317332 | NA | WAS | X | 48684407 | G | A,T |
| rs132630271 | NA | 7454 | WAS | umls:C0043194 | CLINVAR | NA | 0.650317332 | NA | WAS | X | 48683953 | C | A,T |
| rs146220228 | 8528199 | 7454 | WAS | umls:C0043194 | UNIPROT | WASP gene mutations in Wiskott-Aldrich syndrome and X-linked thrombocytopenia. | 0.650317332 | 1995 | WAS | X | 48685764 | G | A |
| rs193922414 | NA | 7454 | WAS | umls:C0043194 | CLINVAR | NA | 0.650317332 | NA | WAS | X | 48685583 | C | G,T |
| rs193922415 | NA | 7454 | WAS | umls:C0043194 | CLINVAR | NA | 0.650317332 | NA | WAS | X | 48683890 | C | T |
| rs193922416 | NA | 7454 | WAS | umls:C0043194 | CLINVAR | NA | 0.650317332 | NA | WAS | X | 48688082 | - | C |
| rs587776742 | NA | 7454 | WAS | umls:C0043194 | CLINVAR | NA | 0.650317332 | NA | WAS | X | 48683854 | A | T |
| rs587776743 | NA | 7454 | WAS | umls:C0043194 | CLINVAR | NA | 0.650317332 | NA | WAS | X | 48685773 | - | ACGAGG |
| rs587776744 | NA | 7454 | WAS | umls:C0043194 | CLINVAR | NA | 0.650317332 | NA | WAS | X | 48688825 | G | - |
| rs587776745 | NA | 7454 | WAS | umls:C0043194 | CLINVAR | NA | 0.650317332 | NA | WAS | X | 48683864 | 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.) |
Chemical(Total Drugs:0) | |
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| (Waiting for update.) | |
FDA approved drug and dosage information(Total Drugs:0) | |
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| (Waiting for update.) | |
FDA labeling changes(Total Drugs:0) | |
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| (Waiting for update.) | |