eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| lysosomal storage disorders | ||||
| Disease ID | 799 |
|---|---|
| Disease | lysosomal storage disorders |
| Integrated Phenotype | (Waiting for update.) |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:16) HP:0002344 | Progressive neurologic deterioration | 2 HP:0001638 | Cardiomyopathy | 2 HP:0000707 | Neurological abnormality | 1 HP:0011096 | Demyelination | 1 HP:0001249 | Mental retardation | 1 HP:0002180 | Neurodegeneration | 1 HP:0002145 | Frontotemporal dementia | 1 HP:0000572 | Visual loss | 1 HP:0001270 | Motor retardation | 1 HP:0003198 | Myopathic changes | 1 HP:0001263 | Developmental retardation | 1 HP:0003651 | Foam cells | 1 HP:0000726 | Dementia | 1 HP:0000924 | Abnormality of the skeletal system | 1 HP:0001297 | Cerebral vascular events | 1 HP:0002415 | Degeneration of white matter of brain | 1 |
| Disease ID | 799 |
|---|---|
| Disease | lysosomal storage disorders |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:2) |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms: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:1) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs72555392 | 16466959 | 2720 | GLB1 | umls:C0085078 | BeFree | Here, we describe the first founder mutation leading to a lysosomal storage disorder in this population: R59H in GLB1, which causes infantile GM1-gangliosidosis. | 0.003800186 | 2006 | GLB1 | 3 | 33072613 | C | T |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (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 | 799 |
|---|---|
| Disease | lysosomal storage disorders |
| Case | (Waiting for update.) |