| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Hypoparathyroidism familial isolated | PTH | disease | C1832648 | CausalMutation | 0.78 | orphanet , disgenet |
| Hypoparathyroidism familial isolated | PTH | disease | C1832648 | GeneticVariation | 0.78 | orphanet , disgenet |
| Hypoparathyroidism familial isolated | PTH | disease | C1832648 | Biomarker | 0.78 | orphanet , disgenet |
| Hypoparathyroidism familial isolated | GCM2 | disease | C1832648 | CausalMutation | 0.72 | orphanet , disgenet |
| Hypoparathyroidism familial isolated | GCM2 | disease | C1832648 | Biomarker | 0.72 | orphanet , disgenet |
| Hypoparathyroidism familial isolated | GCM2 | disease | C1832648 | GeneticVariation | 0.72 | orphanet , disgenet |
| Hypoparathyroidism familial isolated | CASR | disease | C1832648 | GeneticVariation | 0.33 | disgenet |
| Hypoparathyroidism familial isolated | CASR | disease | C1832648 | Biomarker | 0.33 | disgenet |
| Hypoparathyroidism familial isolated | CGA | disease | C1832648 | GeneticVariation | 0.01 | disgenet |
| Hypoparathyroidism familial isolated | COASY | disease | C1832648 | GeneticVariation | 0.01 | disgenet |
| Hypoparathyroidism familial isolated | MIR184 | disease | C1832648 | Biomarker | 0.01 | disgenet |
| Hypoparathyroidism familial isolated | GNA11 | disease | C1832648 | GeneticVariation | 0.01 | disgenet |
| Hypoparathyroidism familial isolated | AGA | disease | C1832648 | GeneticVariation | 0.01 | disgenet |
| Hypoparathyroidism familial isolated | AIRE | NA | C1832648 | NA | NA | orphanet |
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