| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Spinal muscular atrophy with respiratory distress 1 | IGHMBP2 | disease | C1858517 | AlteredExpression | 1 | orphanet , disgenet |
| Spinal muscular atrophy with respiratory distress 1 | IGHMBP2 | disease | C1858517 | Biomarker | 1 | orphanet , disgenet |
| Spinal muscular atrophy with respiratory distress 1 | IGHMBP2 | disease | C1858517 | GeneticVariation | 1 | orphanet , disgenet |
| Spinal muscular atrophy with respiratory distress 1 | IGHMBP2 | disease | C1858517 | GermlineCausalMutation | 1 | orphanet , disgenet |
| Spinal muscular atrophy with respiratory distress 1 | IGHMBP2 | disease | C1858517 | CausalMutation | 1 | orphanet , disgenet |
| Spinal muscular atrophy with respiratory distress 1 | SMN2 | disease | C1858517 | Biomarker | 0.02 | disgenet |
| Spinal muscular atrophy with respiratory distress 1 | SMN1 | disease | C1858517 | Biomarker | 0.02 | disgenet |
| Spinal muscular atrophy with respiratory distress 1 | POTEF | disease | C1858517 | AlteredExpression | 0.01 | disgenet |
| Spinal muscular atrophy with respiratory distress 1 | CXCR4 | disease | C1858517 | Biomarker | 0.01 | disgenet |
| Spinal muscular atrophy with respiratory distress 1 | LAS1L | disease | C1858517 | GeneticVariation | 0.01 | orphanet , disgenet |
| Spinal muscular atrophy with respiratory distress 1 | LAMC2 | disease | C1858517 | Biomarker | 0.01 | disgenet |
| Spinal muscular atrophy with respiratory distress 1 | FUT4 | disease | C1858517 | Biomarker | 0.01 | disgenet |
| Spinal muscular atrophy with respiratory distress 1 | ACTB | disease | C1858517 | AlteredExpression | 0.01 | disgenet |
| Spinal muscular atrophy with respiratory distress 1 | CSF2 | disease | C1858517 | Biomarker | 0.01 | disgenet |
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