| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Cutis Laxa, Autosomal Recessive, Type I | FBLN5 | disease | C0268351 | Biomarker | 0.7 | orphanet , disgenet |
| Cutis Laxa, Autosomal Recessive, Type I | FBLN5 | disease | C0268351 | GeneticVariation | 0.7 | orphanet , disgenet |
| Cutis Laxa, Autosomal Recessive, Type I | FBLN5 | disease | C0268351 | CausalMutation | 0.7 | orphanet , disgenet |
| Cutis Laxa, Autosomal Recessive, Type I | FBLN5 | disease | C0268351 | GermlineCausalMutation | 0.7 | orphanet , disgenet |
| Cutis Laxa, Autosomal Recessive, Type I | EFEMP2 | disease | C0268351 | GermlineCausalMutation | 0.3 | orphanet , disgenet |
| Cutis Laxa, Autosomal Recessive, Type I | PYCR1 | NA | C0268351 | NA | NA | orphanet |
| Cutis Laxa, Autosomal Recessive, Type I | LTBP1 | NA | C0268351 | NA | NA | orphanet |
| Cutis Laxa, Autosomal Recessive, Type I | ATP6V1A | NA | C0268351 | NA | NA | orphanet |
| Cutis Laxa, Autosomal Recessive, Type I | ATP6V0A2 | NA | C0268351 | NA | NA | orphanet |
| Cutis Laxa, Autosomal Recessive, Type I | ATP6V1E1 | NA | C0268351 | NA | NA | orphanet |
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