| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Dysplasias, Campomelic | SOX9 | disease | C1861922 | GermlineCausalMutation | 1 | orphanet , disgenet |
| Dysplasias, Campomelic | SOX9 | disease | C1861922 | Biomarker | 1 | orphanet , disgenet |
| Dysplasias, Campomelic | SOX9 | disease | C1861922 | AlteredExpression | 1 | orphanet , disgenet |
| Dysplasias, Campomelic | SOX9 | disease | C1861922 | GeneticVariation | 1 | orphanet , disgenet |
| Dysplasias, Campomelic | SOX9 | disease | C1861922 | CausalMutation | 1 | orphanet , disgenet |
| Dysplasias, Campomelic | LAMA2 | disease | C1861922 | GeneticVariation | 0.1 | disgenet |
| Dysplasias, Campomelic | SOX9-AS1 | disease | C1861922 | GeneticVariation | 0.1 | disgenet |
| Dysplasias, Campomelic | LAMA2 | disease | C1861922 | Biomarker | 0.1 | disgenet |
| Dysplasias, Campomelic | SOX9-AS1 | disease | C1861922 | CausalMutation | 0.1 | disgenet |
| Dysplasias, Campomelic | SRY | disease | C1861922 | GeneticVariation | 0.06 | disgenet |
| Dysplasias, Campomelic | ANKH | disease | C1861922 | AlteredExpression | 0.06 | disgenet |
| Dysplasias, Campomelic | ANKH | disease | C1861922 | GeneticVariation | 0.06 | disgenet |
| Dysplasias, Campomelic | DAG1 | disease | C1861922 | Biomarker | 0.05 | disgenet |
| Dysplasias, Campomelic | JAK2 | disease | C1861922 | GeneticVariation | 0.05 | disgenet |
| Dysplasias, Campomelic | POMT1 | disease | C1861922 | GeneticVariation | 0.04 | disgenet |
| Dysplasias, Campomelic | POMT1 | disease | C1861922 | Biomarker | 0.04 | disgenet |
| Dysplasias, Campomelic | SRA1 | disease | C1861922 | GeneticVariation | 0.04 | disgenet |
| Dysplasias, Campomelic | ANK1 | disease | C1861922 | AlteredExpression | 0.04 | disgenet |
| Dysplasias, Campomelic | ANK1 | disease | C1861922 | GeneticVariation | 0.04 | disgenet |
| Dysplasias, Campomelic | SOX8 | disease | C1861922 | Biomarker | 0.03 | disgenet |
| Dysplasias, Campomelic | POMT2 | disease | C1861922 | GeneticVariation | 0.03 | disgenet |
| Dysplasias, Campomelic | POMT2 | disease | C1861922 | Biomarker | 0.03 | disgenet |
| Dysplasias, Campomelic | BCR | disease | C1861922 | Biomarker | 0.02 | disgenet |
| Dysplasias, Campomelic | TGFB1 | disease | C1861922 | Biomarker | 0.02 | disgenet |
| Dysplasias, Campomelic | CAPN3 | disease | C1861922 | GeneticVariation | 0.02 | disgenet |
| Dysplasias, Campomelic | CAPN3 | disease | C1861922 | Biomarker | 0.02 | disgenet |
| Dysplasias, Campomelic | CHKB | disease | C1861922 | GeneticVariation | 0.01 | disgenet |
| Dysplasias, Campomelic | FKTN | disease | C1861922 | GeneticVariation | 0.01 | disgenet |
| Dysplasias, Campomelic | PDGFRB | disease | C1861922 | GeneticVariation | 0.01 | disgenet |
| Dysplasias, Campomelic | COL2A1 | disease | C1861922 | AlteredExpression | 0.01 | disgenet |
| Dysplasias, Campomelic | ITGA7 | disease | C1861922 | GeneticVariation | 0.01 | disgenet |
| Dysplasias, Campomelic | HOXB4 | disease | C1861922 | Biomarker | 0.01 | disgenet |
| Dysplasias, Campomelic | IFNA13 | disease | C1861922 | AlteredExpression | 0.01 | disgenet |
| Dysplasias, Campomelic | MPI | disease | C1861922 | Biomarker | 0.01 | disgenet |
| Dysplasias, Campomelic | HOXB5 | disease | C1861922 | Biomarker | 0.01 | disgenet |
| Dysplasias, Campomelic | B4GALNT2 | disease | C1861922 | AlteredExpression | 0.01 | disgenet |
| Dysplasias, Campomelic | GJA1 | disease | C1861922 | GeneticVariation | 0.01 | disgenet |
| Dysplasias, Campomelic | TNFSF11 | disease | C1861922 | AlteredExpression | 0.01 | disgenet |
| Dysplasias, Campomelic | ALPL | disease | C1861922 | GeneticVariation | 0.01 | disgenet |
| Dysplasias, Campomelic | COL6A3 | disease | C1861922 | Biomarker | 0.01 | disgenet |
| Dysplasias, Campomelic | HOXB@ | disease | C1861922 | Biomarker | 0.01 | disgenet |
| Dysplasias, Campomelic | IGF2R | disease | C1861922 | Biomarker | 0.01 | disgenet |
| Dysplasias, Campomelic | LGALS4 | disease | C1861922 | Biomarker | 0.01 | disgenet |
| Dysplasias, Campomelic | CAD | disease | C1861922 | Biomarker | 0.01 | disgenet |
| Dysplasias, Campomelic | BGN | disease | C1861922 | Biomarker | 0.01 | disgenet |
| Dysplasias, Campomelic | CD177 | disease | C1861922 | AlteredExpression | 0.01 | disgenet |
| Dysplasias, Campomelic | SGCA | disease | C1861922 | AlteredExpression | 0.01 | disgenet |
| Dysplasias, Campomelic | ACE | disease | C1861922 | GeneticVariation | 0.01 | disgenet |
| Dysplasias, Campomelic | FKRP | disease | C1861922 | GeneticVariation | 0.01 | disgenet |
| Dysplasias, Campomelic | PPARG | disease | C1861922 | Biomarker | 0.01 | disgenet |
| Dysplasias, Campomelic | DYSF | disease | C1861922 | AlteredExpression | 0.01 | disgenet |
| Dysplasias, Campomelic | HOXB3 | disease | C1861922 | Biomarker | 0.01 | disgenet |
| Dysplasias, Campomelic | VAV1 | disease | C1861922 | AlteredExpression | 0.01 | disgenet |
| Dysplasias, Campomelic | SRC | disease | C1861922 | AlteredExpression | 0.01 | disgenet |
| Dysplasias, Campomelic | SOX11 | disease | C1861922 | Biomarker | 0.01 | disgenet |
| Dysplasias, Campomelic | STAT3 | disease | C1861922 | AlteredExpression | 0.01 | disgenet |
| Dysplasias, Campomelic | FGFR3 | disease | C1861922 | Biomarker | 0.01 | disgenet |
| Dysplasias, Campomelic | HOXB2 | disease | C1861922 | Biomarker | 0.01 | disgenet |
| Dysplasias, Campomelic | TIMP1 | disease | C1861922 | Biomarker | 0.01 | disgenet |
| Dysplasias, Campomelic | COL1A1 | disease | C1861922 | Biomarker | 0.01 | disgenet |
| Dysplasias, Campomelic | LAMB1 | disease | C1861922 | AlteredExpression | 0.01 | disgenet |
| Dysplasias, Campomelic | ST3GAL4 | disease | C1861922 | Biomarker | 0.01 | disgenet |
| Dysplasias, Campomelic | HOXB8 | disease | C1861922 | Biomarker | 0.01 | disgenet |
| Dysplasias, Campomelic | HOXB9 | disease | C1861922 | Biomarker | 0.01 | disgenet |
| Dysplasias, Campomelic | SOX6 | disease | C1861922 | Biomarker | 0.01 | disgenet |
| Dysplasias, Campomelic | VPS51 | disease | C1861922 | GeneticVariation | 0.01 | disgenet |
| Dysplasias, Campomelic | CCDC6 | disease | C1861922 | GeneticVariation | 0.01 | disgenet |
| Dysplasias, Campomelic | HOXB7 | disease | C1861922 | Biomarker | 0.01 | disgenet |
| Dysplasias, Campomelic | LMNA | disease | C1861922 | Biomarker | 0.01 | disgenet |
| Dysplasias, Campomelic | SOX10 | disease | C1861922 | Biomarker | 0.01 | disgenet |
| Dysplasias, Campomelic | HOXB1 | disease | C1861922 | Biomarker | 0.01 | disgenet |
| Dysplasias, Campomelic | DMD | disease | C1861922 | AlteredExpression | 0.01 | disgenet |
| Dysplasias, Campomelic | HOXB6 | disease | C1861922 | Biomarker | 0.01 | disgenet |
| Dysplasias, Campomelic | ROM1 | disease | C1861922 | Biomarker | 0.01 | disgenet |
| Dysplasias, Campomelic | IFNA2 | disease | C1861922 | GeneticVariation | 0.01 | disgenet |
| Dysplasias, Campomelic | ACTN3 | disease | C1861922 | AlteredExpression | 0.01 | disgenet |
| Dysplasias, Campomelic | IFNA1 | disease | C1861922 | AlteredExpression | 0.01 | disgenet |
| Dysplasias, Campomelic | SOX4 | disease | C1861922 | Biomarker | 0.01 | disgenet |
| Dysplasias, Campomelic | SOX21 | disease | C1861922 | Biomarker | 0.01 | disgenet |
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