| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Pseudohypoparathyroidism Type 1B | GNAS | disease | C2932715 | Biomarker | 0.7 | orphanet , disgenet |
| Pseudohypoparathyroidism Type 1B | GNAS | disease | C2932715 | GermlineCausalMutation | 0.7 | orphanet , disgenet |
| Pseudohypoparathyroidism Type 1B | GNAS | disease | C2932715 | AlteredExpression | 0.7 | orphanet , disgenet |
| Pseudohypoparathyroidism Type 1B | GNAS | disease | C2932715 | PosttranslationalModification | 0.7 | orphanet , disgenet |
| Pseudohypoparathyroidism Type 1B | GNAS | disease | C2932715 | GeneticVariation | 0.7 | orphanet , disgenet |
| Pseudohypoparathyroidism Type 1B | STX16 | disease | C2932715 | GermlineCausalMutation | 0.3 | orphanet , disgenet |
| Pseudohypoparathyroidism Type 1B | PTH | disease | C2932715 | GeneticVariation | 0.1 | disgenet |
| Pseudohypoparathyroidism Type 1B | PTH | disease | C2932715 | Biomarker | 0.1 | disgenet |
| Pseudohypoparathyroidism Type 1B | PTH | disease | C2932715 | AlteredExpression | 0.1 | disgenet |
| Pseudohypoparathyroidism Type 1B | PTH1R | disease | C2932715 | GeneticVariation | 0.02 | disgenet |
| Pseudohypoparathyroidism Type 1B | PTH1R | disease | C2932715 | PosttranslationalModification | 0.02 | disgenet |
| Pseudohypoparathyroidism Type 1B | ASAH1 | disease | C2932715 | GeneticVariation | 0.01 | disgenet |
| Pseudohypoparathyroidism Type 1B | SOX3 | disease | C2932715 | GeneticVariation | 0.01 | disgenet |
| Pseudohypoparathyroidism Type 1B | PHPT1 | disease | C2932715 | GeneticVariation | 0.01 | disgenet |
| Pseudohypoparathyroidism Type 1B | GNAS-AS1 | disease | C2932715 | Biomarker | 0.01 | disgenet |
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