| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Cutis Laxa, Autosomal Recessive, Type IIB | PYCR1 | disease | C2751987 | CausalMutation | 0.75 | disgenet |
| Cutis Laxa, Autosomal Recessive, Type IIB | PYCR1 | disease | C2751987 | GeneticVariation | 0.75 | disgenet |
| Cutis Laxa, Autosomal Recessive, Type IIB | PYCR1 | disease | C2751987 | GermlineCausalMutation | 0.75 | disgenet |
| Cutis Laxa, Autosomal Recessive, Type IIB | PYCR1 | disease | C2751987 | Biomarker | 0.75 | disgenet |
| Cutis Laxa, Autosomal Recessive, Type IIB | ALDH18A1 | disease | C2751987 | GeneticVariation | 0.02 | disgenet |
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