PedAM
Pediatric Disease Annotations & Medicines
| glycogen storage disease | ||||
| Disease ID | 289 |
|---|---|
| Disease | glycogen storage disease |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:29) C2707258 | infections C1963084 | colitis C1546654 | granuloma C1512411 | hepatocellular carcinoma C0850497 | immune deficiency C0740394 | hyperuricemia C0541760 | liver adenomas C0403447 | chronic renal insufficiency C0272183 | neutrophil dysfunction C0268435 | proximal renal tubular acidosis C0242339 | dyslipidemia C0221773 | hyperamylasaemia C0221252 | eruptive xanthomas C0029166 | oral manifestations C0027947 | neutropenia C0026848 | myopathy C0023903 | liver neoplasms C0023895 | hepatic pathology C0022658 | renal disease C0022638 | ketosis C0021831 | intestinal disease C0021390 | inflammatory bowel disease C0020615 | hypoglycemia C0020473 | hyperlipidemia C0020473 | hyperlipidaemia C0020473 | hyperlipemia C0019209 | hepatomegaly C0018991 | hemiplegia C0001430 | adenoma |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:7) C0272183 | neutrophil dysfunction | 2 C0020598 | hypoglycemia | 2 C0001430 | adenoma | 2 C0021390 | inflammatory bowel disease | 1 C0242339 | dyslipidemia | 1 C0019209 | hepatomegaly | 1 C0026848 | myopathy | 1 |
Manually Genotype(Total Text Mining Genotypes:0) |
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| (Waiting for update.) |
All Snps(Total Genotypes:7) | |||||||||||||
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| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs104894571 | 7623438 | 2538 | G6PC | umls:C0017919 | BeFree | Characterization of the mutations in the glucose-6-phosphatase gene in Israeli patients with glycogen storage disease type 1a: R83C in six Jews and a novel V166G mutation in a Muslim Arab. | 0.02193071 | 1995 | G6PC | 17 | 42909353 | T | G |
| rs118203964 | 10571954 | 178 | AGL | umls:C0017919 | BeFree | Glycogen storage disease type IIIa: first report of a causative missense mutation (G1448R) of the glycogen debranching enzyme gene found in a homozygous patient. | 0.008805692 | 1999 | AGL;LOC101930120 | 1 | 99916492 | G | C |
| rs1801175 | 7623438 | 2538 | G6PC | umls:C0017919 | BeFree | Characterization of the mutations in the glucose-6-phosphatase gene in Israeli patients with glycogen storage disease type 1a: R83C in six Jews and a novel V166G mutation in a Muslim Arab. | 0.02193071 | 1995 | G6PC | 17 | 42903947 | C | T |
| rs193302878 | 19579760 | 2542 | SLC37A4 | umls:C0017919 | BeFree | Neutropenia had been observed since 6 months of age, but the diagnosis of GSD Ib was established only at 18 months of age two mutations (c.354_355insC (p. W118fsX12) and c.736T>C (p.W246R)) were detected on his SLC37A4 gene. | 0.00706742 | 2009 | SLC37A4 | 11 | 119026985 | A | G |
| rs193302879 | 15953877 | 2542 | SLC37A4 | umls:C0017919 | BeFree | A novel mutation (A148V) in the glucose 6-phosphate translocase (SLC37A4) gene in a Korean patient with glycogen storage disease type 1b. | 0.00706742 | 2005 | SLC37A4 | 11 | 119027811 | G | A |
| rs193302887 | 12409273 | 2542 | SLC37A4 | umls:C0017919 | BeFree | Novel missense mutation (Y24H) in the G6PT1 gene causing glycogen storage disease type 1b. | 0.00706742 | 2002 | SLC37A4 | 11 | 119029300 | A | G |
| rs80356482 | 10960498 | 2538 | G6PC | umls:C0017919 | BeFree | Glucose-6-phosphatase mutation G188R confers an atypical glycogen storage disease type 1b phenotype. | 0.02193071 | 2000 | G6PC | 17 | 42909418 | G | A,C |
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.) | |