| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Craniometaphyseal dysplasia autosomal dominant | ANKH | disease | C1852502 | GeneticVariation | 0.99 | disgenet |
| Craniometaphyseal dysplasia autosomal dominant | ANKH | disease | C1852502 | AlteredExpression | 0.99 | disgenet |
| Craniometaphyseal dysplasia autosomal dominant | ANKH | disease | C1852502 | Biomarker | 0.99 | disgenet |
| Craniometaphyseal dysplasia autosomal dominant | ANKH | disease | C1852502 | CausalMutation | 0.99 | disgenet |
| Craniometaphyseal dysplasia autosomal dominant | LAMA2 | disease | C1852502 | GeneticVariation | 0.1 | disgenet |
| Craniometaphyseal dysplasia autosomal dominant | LAMA2 | disease | C1852502 | Biomarker | 0.1 | disgenet |
| Craniometaphyseal dysplasia autosomal dominant | DAG1 | disease | C1852502 | Biomarker | 0.05 | disgenet |
| Craniometaphyseal dysplasia autosomal dominant | ANK1 | disease | C1852502 | AlteredExpression | 0.05 | disgenet |
| Craniometaphyseal dysplasia autosomal dominant | ANK1 | disease | C1852502 | GeneticVariation | 0.05 | disgenet |
| Craniometaphyseal dysplasia autosomal dominant | POMT1 | disease | C1852502 | Biomarker | 0.04 | disgenet |
| Craniometaphyseal dysplasia autosomal dominant | POMT1 | disease | C1852502 | GeneticVariation | 0.04 | disgenet |
| Craniometaphyseal dysplasia autosomal dominant | JAK2 | disease | C1852502 | GeneticVariation | 0.03 | disgenet |
| Craniometaphyseal dysplasia autosomal dominant | POMT2 | disease | C1852502 | GeneticVariation | 0.03 | disgenet |
| Craniometaphyseal dysplasia autosomal dominant | POMT2 | disease | C1852502 | Biomarker | 0.03 | disgenet |
| Craniometaphyseal dysplasia autosomal dominant | CAPN3 | disease | C1852502 | Biomarker | 0.02 | disgenet |
| Craniometaphyseal dysplasia autosomal dominant | TGFB1 | disease | C1852502 | Biomarker | 0.02 | disgenet |
| Craniometaphyseal dysplasia autosomal dominant | CAPN3 | disease | C1852502 | GeneticVariation | 0.02 | disgenet |
| Craniometaphyseal dysplasia autosomal dominant | CHKB | disease | C1852502 | GeneticVariation | 0.01 | disgenet |
| Craniometaphyseal dysplasia autosomal dominant | FKTN | disease | C1852502 | GeneticVariation | 0.01 | disgenet |
| Craniometaphyseal dysplasia autosomal dominant | IGF2R | disease | C1852502 | Biomarker | 0.01 | disgenet |
| Craniometaphyseal dysplasia autosomal dominant | DYSF | disease | C1852502 | AlteredExpression | 0.01 | disgenet |
| Craniometaphyseal dysplasia autosomal dominant | FGFR3 | disease | C1852502 | Biomarker | 0.01 | disgenet |
| Craniometaphyseal dysplasia autosomal dominant | SOX9 | disease | C1852502 | Biomarker | 0.01 | disgenet |
| Craniometaphyseal dysplasia autosomal dominant | SRC | disease | C1852502 | AlteredExpression | 0.01 | disgenet |
| Craniometaphyseal dysplasia autosomal dominant | IFNA13 | disease | C1852502 | AlteredExpression | 0.01 | disgenet |
| Craniometaphyseal dysplasia autosomal dominant | MPI | disease | C1852502 | Biomarker | 0.01 | disgenet |
| Craniometaphyseal dysplasia autosomal dominant | IFNA1 | disease | C1852502 | AlteredExpression | 0.01 | disgenet |
| Craniometaphyseal dysplasia autosomal dominant | ACE | disease | C1852502 | GeneticVariation | 0.01 | disgenet |
| Craniometaphyseal dysplasia autosomal dominant | COL6A3 | disease | C1852502 | Biomarker | 0.01 | disgenet |
| Craniometaphyseal dysplasia autosomal dominant | B4GALNT2 | disease | C1852502 | AlteredExpression | 0.01 | disgenet |
| Craniometaphyseal dysplasia autosomal dominant | LAMB1 | disease | C1852502 | AlteredExpression | 0.01 | disgenet |
| Craniometaphyseal dysplasia autosomal dominant | LGALS4 | disease | C1852502 | Biomarker | 0.01 | disgenet |
| Craniometaphyseal dysplasia autosomal dominant | SGCA | disease | C1852502 | AlteredExpression | 0.01 | disgenet |
| Craniometaphyseal dysplasia autosomal dominant | DMD | disease | C1852502 | AlteredExpression | 0.01 | disgenet |
| Craniometaphyseal dysplasia autosomal dominant | BGN | disease | C1852502 | Biomarker | 0.01 | disgenet |
| Craniometaphyseal dysplasia autosomal dominant | TIMP1 | disease | C1852502 | Biomarker | 0.01 | disgenet |
| Craniometaphyseal dysplasia autosomal dominant | CCDC6 | disease | C1852502 | GeneticVariation | 0.01 | disgenet |
| Craniometaphyseal dysplasia autosomal dominant | PPARG | disease | C1852502 | Biomarker | 0.01 | disgenet |
| Craniometaphyseal dysplasia autosomal dominant | PDGFRB | disease | C1852502 | GeneticVariation | 0.01 | disgenet |
| Craniometaphyseal dysplasia autosomal dominant | TNFSF11 | disease | C1852502 | AlteredExpression | 0.01 | disgenet |
| Craniometaphyseal dysplasia autosomal dominant | LMNA | disease | C1852502 | Biomarker | 0.01 | disgenet |
| Craniometaphyseal dysplasia autosomal dominant | ROM1 | disease | C1852502 | Biomarker | 0.01 | disgenet |
| Craniometaphyseal dysplasia autosomal dominant | ACTN3 | disease | C1852502 | AlteredExpression | 0.01 | disgenet |
| Craniometaphyseal dysplasia autosomal dominant | IFNA2 | disease | C1852502 | GeneticVariation | 0.01 | disgenet |
| Craniometaphyseal dysplasia autosomal dominant | GJA1 | disease | C1852502 | GeneticVariation | 0.01 | disgenet |
| Craniometaphyseal dysplasia autosomal dominant | GHR | disease | C1852502 | GeneticVariation | 0.01 | disgenet |
| Craniometaphyseal dysplasia autosomal dominant | VPS51 | disease | C1852502 | GeneticVariation | 0.01 | disgenet |
| Craniometaphyseal dysplasia autosomal dominant | VAV1 | disease | C1852502 | AlteredExpression | 0.01 | disgenet |
| Craniometaphyseal dysplasia autosomal dominant | CAD | disease | C1852502 | Biomarker | 0.01 | disgenet |
| Craniometaphyseal dysplasia autosomal dominant | CD177 | disease | C1852502 | AlteredExpression | 0.01 | disgenet |
| Craniometaphyseal dysplasia autosomal dominant | FKRP | disease | C1852502 | GeneticVariation | 0.01 | disgenet |
| Craniometaphyseal dysplasia autosomal dominant | ITGA7 | disease | C1852502 | GeneticVariation | 0.01 | disgenet |
| Craniometaphyseal dysplasia autosomal dominant | ST3GAL4 | disease | C1852502 | Biomarker | 0.01 | disgenet |
| click here to return to the previous page | ||||||