| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Cole Carpenter syndrome | P4HB | disease | C1862178 | GeneticVariation | 0.63 | orphanet , disgenet |
| Cole Carpenter syndrome | P4HB | disease | C1862178 | Biomarker | 0.63 | orphanet , disgenet |
| Cole Carpenter syndrome | P4HB | disease | C1862178 | GermlineCausalMutation | 0.63 | orphanet , disgenet |
| Cole Carpenter syndrome | SEC24D | disease | C1862178 | GermlineCausalMutation | 0.61 | orphanet , disgenet |
| Cole Carpenter syndrome | SEC24D | disease | C1862178 | GeneticVariation | 0.61 | orphanet , disgenet |
| Cole Carpenter syndrome | SEC24D | disease | C1862178 | Biomarker | 0.61 | orphanet , disgenet |
| Cole Carpenter syndrome | CRTAP | disease | C1862178 | GeneticVariation | 0.01 | disgenet |
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