PedAM
Pediatric Disease Annotations & Medicines
| hereditary spherocytosis | ||||
| Disease ID | 129 |
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| Disease | hereditary spherocytosis |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:51) C2711515 | stuttering priapism C2613439 | extramedullary hematopoiesis C2613439 | extramedullary haematopoiesis C1963148 | iron overload C1959635 | parvovirus b19 C1868081 | juvenile polyposis coli C1609519 | adrenal myelolipoma C1384665 | hemochromatosis C1260402 | splenic sequestration C1136085 | monoclonal gammopathy C1000483 | anemia C0948008 | ischemic stroke C0947622 | gallstones C0857007 | neonatal hyperbilirubinemia C0598608 | hyperhomocysteinaemia C0524910 | chronic hepatitis c C0524702 | pulmonary thromboembolism C0517555 | venous thrombosis C0455988 | nonimmune hydrops fetalis C0345893 | juvenile polyposis C0340425 | hypertrophic cardiomyopathy C0272066 | red cell aldolase deficiency C0263396 | pigmented purpuric eruption C0240066 | iron deficiency C0159075 | chyluria C0151482 | megaloblastic anemia due to folate deficiency C0151313 | sensory neuropathy C0149678 | epstein-barr virus infection C0085273 | parvovirus b19 infection C0042974 | von willebrand's disease C0040053 | thrombosis C0038454 | cerebral infarction C0037928 | spinal cord disease C0037054 | sickle cell trait C0033626 | protein deficiency C0033626 | protein deficiencies C0032227 | pleural effusions C0030312 | pancytopenia C0027726 | nephrotic syndrome C0027613 | giant cell hepatitis C0026654 | moyamoya disease C0023223 | leg ulcers C0023223 | leg ulcer C0022658 | nephropathy C0022610 | kernicterus C0016412 | folic acid deficiency C0015230 | rash C0008350 | cholelithiasis C0002982 | angioid streaks C0002880 | autoimmune haemolytic anaemia C0002878 | hemolytic anemia |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:10) C0008350 | gallstones | 2 C0018952 | extramedullary hematopoiesis | 1 C0002878 | hemolytic anemia | 1 C0085274 | parvovirus b19 | 1 C0085273 | parvovirus b19 infection | 1 C0002871 | anemia | 1 C0022658 | nephropathy | 1 C0026654 | moyamoya disease | 1 C0023223 | leg ulcers | 1 C0002982 | angioid streaks | 1 |
Manually Genotype(Total Text Mining Genotypes:0) |
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| (Waiting for update.) |
All Snps(Total Genotypes:2) | |||||||||||||
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| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs4148323 | 20924216 | 54658 | UGT1A1 | umls:C0037889 | BeFree | This is the first report of the concomitance of HS and GS with three heterozygous mutations [T-3279G, A (TA)7TAA, and G211A] in the UGT1A1 gene. | 0.00408156 | 2010 | UGT1A10;UGT1A8;UGT1A7;UGT1A6;UGT1A5;UGT1A9;UGT1A4;UGT1A1;UGT1A3 | 2 | 233760498 | G | A |
| rs5035 | 9012689 | 6521 | SLC4A1 | umls:C0037889 | BeFree | Novel band 3 variants (bands 3 Foggia, Napoli I and Napoli II) associated with hereditary spherocytosis and band 3 deficiency: status of the D38A polymorphism within the EPB3 locus. | 0.249248887 | 1997 | SLC4A1 | 17 | 44261630 | T | 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.) |
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.) | |