Metaphyseal anadysplasia
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| Metaphyseal anadysplasia | 1040, C0432226 | MMP13 | Causal Pathogenic evidence from ClinVar | 19615667, 24781753 | ClinVar |
| MMP9 | Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations | 19615667 | - | ||
| Metaphyseal Anadysplasia 2 | C2751322 | MMP9 | Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations | 19615667 | - |