PedAM
Pediatric Disease Annotations & Medicines
| hereditary amyloidosis | ||||
| Disease ID | 1723 |
|---|---|
| Disease | hereditary amyloidosis |
| Definition | Diseases in which there is an inherited mutation leading to AMYLOIDOSIS. |
| Synonym | amyloidoses, hereditary amyloidosis - hereditaries amyloidosis - hereditary amyloidosis hereditary amyloidosis, hereditary hereditary amyloidoses |
| Orphanet | |
| UMLS | C0206246 |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:3) |
| Curated Gene | (Waiting for update.) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | (Waiting for update.) |
| Locus | (Waiting for update.) |
| Disease ID | 1723 |
|---|---|
| Disease | hereditary amyloidosis |
| Integrated Phenotype | (Waiting for update.) |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:2) |
| Disease ID | 1723 |
|---|---|
| Disease | hereditary amyloidosis |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:2) |
| Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
All Snps(Total Genotypes:2) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs11550199 | 1319113 | 2934 | GSN | umls:C0206246 | BeFree | Recently the Finnish form of hereditary amyloidosis with lattice corneal dystrophy has been shown to be due to a mutation in the gelsolin gene (G654----A; Asp187----Asn). | 0.002171535 | 1992 | GSN | 9 | 121312363 | A | G |
| rs387906536 | 25217048 | 4069 | LYZ | umls:C0206246 | BeFree | Hereditary amyloidosis associated with the p.Trp82Arg lysozyme variant in this new family is predominantly associated with mild upper gastrointestinal tract involvement and in some cases with inflammatory bowel disease. | 0.000542884 | 2014 | LYZ | 12 | 69350215 | T | A,C |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (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) | |
|---|---|
| (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.) | |