| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Macrocephaly, Alopecia, Cutis Laxa, and Scoliosis | RIN2 | disease | C2751321 | GermlineCausalMutation | 0.72 | disgenet |
| Macrocephaly, Alopecia, Cutis Laxa, and Scoliosis | RIN2 | disease | C2751321 | GeneticVariation | 0.72 | disgenet |
| Macrocephaly, Alopecia, Cutis Laxa, and Scoliosis | RIN2 | disease | C2751321 | CausalMutation | 0.72 | disgenet |
| Macrocephaly, Alopecia, Cutis Laxa, and Scoliosis | RIN2 | disease | C2751321 | Biomarker | 0.72 | disgenet |
| Macrocephaly, Alopecia, Cutis Laxa, and Scoliosis | FBLN5 | disease | C2751321 | Biomarker | 0.01 | disgenet |
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