| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Cutis Laxa, Autosomal Recessive, Type IIA | ATP6V0A2 | disease | C0268355 | Biomarker | 0.7 | disgenet |
| Cutis Laxa, Autosomal Recessive, Type IIA | ATP6V0A2 | disease | C0268355 | GermlineCausalMutation | 0.7 | disgenet |
| Cutis Laxa, Autosomal Recessive, Type IIA | ATP6V0A2 | disease | C0268355 | GeneticVariation | 0.7 | disgenet |
| Cutis Laxa, Autosomal Recessive, Type IIA | ATP6V0A2 | disease | C0268355 | CausalMutation | 0.7 | disgenet |
| Cutis Laxa, Autosomal Recessive, Type IIA | ATP6V1E1 | disease | C0268355 | GermlineCausalMutation | 0.3 | disgenet |
| Cutis Laxa, Autosomal Recessive, Type IIA | ATP6V1A | disease | C0268355 | GermlineCausalMutation | 0.3 | disgenet |
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