eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| left ventricular noncompaction | ||||
| Disease ID | 1051 |
|---|---|
| Disease | left ventricular noncompaction |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:4) |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:3) |
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:3) | |||||||||||||
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| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs104894941 | 17846786 | 6901 | TAZ | umls:C1960469 | BeFree | The diagnosis was established by the presence of left ventricular noncompaction and molecular analysis (c.C153G or Y51X mutation of the TAZ gene). | 0.121628651 | 2008 | DNASE1L1;TAZ | X | 154412129 | C | G |
| rs121908338 | 22929165 | 11155 | LDB3 | umls:C1960469 | BeFree | We have previously identified a p.D117N mutation in the LIM domain-binding protein 3-encoding Z-band alternatively spliced PDZ motif gene (ZASP) in a patient with left ventricular noncompaction and conduction disturbances. | 0.120814326 | 2012 | LDB3 | 10 | 86687073 | G | A,C |
| rs3740343 | 16427346 | 11155 | LDB3 | umls:C1960469 | BeFree | A 163G>A polymorphism was identified in LDB3, which changed a valine to isoleucine (V55I) in one patient with isolated LVNC. | 0.120814326 | 2006 | LDB3 | 10 | 86679436 | 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.) |
| Disease ID | 1051 |
|---|---|
| Disease | left ventricular noncompaction |
| Case | (Waiting for update.) |