| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Craniometaphyseal dysplasia, autosomal recessive type | GJA1 | disease | C2931244 | GeneticVariation | 0.7 | disgenet |
| Craniometaphyseal dysplasia, autosomal recessive type | GJA1 | disease | C2931244 | CausalMutation | 0.7 | disgenet |
| Craniometaphyseal dysplasia, autosomal recessive type | GJA1 | disease | C2931244 | Biomarker | 0.7 | disgenet |
| Craniometaphyseal dysplasia, autosomal recessive type | ANKH | disease | C2931244 | Biomarker | 0.2 | disgenet |
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