| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Hypophosphatasia, Infantile | ALPL | disease | C0268412 | GermlineCausalMutation | 1 | orphanet , disgenet |
| Hypophosphatasia, Infantile | ALPL | disease | C0268412 | CausalMutation | 1 | orphanet , disgenet |
| Hypophosphatasia, Infantile | ALPL | disease | C0268412 | GeneticVariation | 1 | orphanet , disgenet |
| Hypophosphatasia, Infantile | ALPL | disease | C0268412 | Biomarker | 1 | orphanet , disgenet |
| Hypophosphatasia, Infantile | PDLIM3 | disease | C0268412 | GeneticVariation | 0.02 | disgenet |
| Hypophosphatasia, Infantile | NAT10 | disease | C0268412 | GeneticVariation | 0.02 | disgenet |
| Hypophosphatasia, Infantile | ATRNL1 | disease | C0268412 | GeneticVariation | 0.02 | disgenet |
| Hypophosphatasia, Infantile | ASRGL1 | disease | C0268412 | GeneticVariation | 0.02 | disgenet |
| Hypophosphatasia, Infantile | TMUB1 | disease | C0268412 | GeneticVariation | 0.02 | disgenet |
| Hypophosphatasia, Infantile | ATHS | disease | C0268412 | GeneticVariation | 0.02 | disgenet |
| Hypophosphatasia, Infantile | ALPP | disease | C0268412 | GeneticVariation | 0.02 | disgenet |
| Hypophosphatasia, Infantile | TMUB1 | disease | C0268412 | Biomarker | 0.02 | disgenet |
| Hypophosphatasia, Infantile | CCL27 | disease | C0268412 | GeneticVariation | 0.02 | disgenet |
| Hypophosphatasia, Infantile | SLPI | disease | C0268412 | GeneticVariation | 0.02 | disgenet |
| Hypophosphatasia, Infantile | ATAD1 | disease | C0268412 | Biomarker | 0.01 | disgenet |
| Hypophosphatasia, Infantile | CACNA1F | disease | C0268412 | Biomarker | 0.01 | disgenet |
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