| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, Skeletal Abnormalities | GSC | disease | C1865361 | CausalMutation | 0.63 | disgenet |
| Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, Skeletal Abnormalities | GSC | disease | C1865361 | GermlineCausalMutation | 0.63 | disgenet |
| Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, Skeletal Abnormalities | GSC | disease | C1865361 | GeneticVariation | 0.63 | disgenet |
| Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, Skeletal Abnormalities | GSC | disease | C1865361 | Biomarker | 0.63 | disgenet |
| Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, Skeletal Abnormalities | MAT1A | disease | C1865361 | Biomarker | 0.02 | disgenet |
| Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, Skeletal Abnormalities | SAMHD1 | disease | C1865361 | GeneticVariation | 0.01 | disgenet |
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