| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Pseudoachondroplasia | COMP | disease | C0410538 | AlteredExpression | 1 | orphanet , disgenet |
| Pseudoachondroplasia | COMP | disease | C0410538 | GeneticVariation | 1 | orphanet , disgenet |
| Pseudoachondroplasia | COMP | disease | C0410538 | CausalMutation | 1 | orphanet , disgenet |
| Pseudoachondroplasia | COMP | disease | C0410538 | Biomarker | 1 | orphanet , disgenet |
| Pseudoachondroplasia | COL9A3 | disease | C0410538 | Biomarker | 0.06 | disgenet |
| Pseudoachondroplasia | COL9A2 | disease | C0410538 | Biomarker | 0.06 | disgenet |
| Pseudoachondroplasia | COL9A2 | disease | C0410538 | GeneticVariation | 0.06 | disgenet |
| Pseudoachondroplasia | COL9A3 | disease | C0410538 | GeneticVariation | 0.06 | disgenet |
| Pseudoachondroplasia | COL9A1 | disease | C0410538 | Biomarker | 0.05 | disgenet |
| Pseudoachondroplasia | COL9A1 | disease | C0410538 | GeneticVariation | 0.05 | disgenet |
| Pseudoachondroplasia | SCN8A | disease | C0410538 | GeneticVariation | 0.04 | disgenet |
| Pseudoachondroplasia | SCN8A | disease | C0410538 | Biomarker | 0.04 | disgenet |
| Pseudoachondroplasia | MATN3 | disease | C0410538 | Biomarker | 0.03 | disgenet |
| Pseudoachondroplasia | MATN3 | disease | C0410538 | GeneticVariation | 0.03 | disgenet |
| Pseudoachondroplasia | ACAN | disease | C0410538 | AlteredExpression | 0.02 | disgenet |
| Pseudoachondroplasia | ACAN | disease | C0410538 | Biomarker | 0.02 | disgenet |
| Pseudoachondroplasia | CANX | disease | C0410538 | AlteredExpression | 0.01 | disgenet |
| Pseudoachondroplasia | P4HB | disease | C0410538 | AlteredExpression | 0.01 | disgenet |
| Pseudoachondroplasia | DMD | disease | C0410538 | GeneticVariation | 0.01 | disgenet |
| Pseudoachondroplasia | COL10A1 | disease | C0410538 | GeneticVariation | 0.01 | disgenet |
| Pseudoachondroplasia | DCN | disease | C0410538 | GeneticVariation | 0.01 | disgenet |
| Pseudoachondroplasia | EPHA3 | disease | C0410538 | GeneticVariation | 0.01 | disgenet |
| Pseudoachondroplasia | SPARC | disease | C0410538 | Biomarker | 0.01 | disgenet |
| Pseudoachondroplasia | MMRN1 | disease | C0410538 | Biomarker | 0.01 | disgenet |
| Pseudoachondroplasia | COL2A1 | disease | C0410538 | GeneticVariation | 0.01 | disgenet |
| Pseudoachondroplasia | FGFR3 | disease | C0410538 | Biomarker | 0.01 | disgenet |
| Pseudoachondroplasia | GLS | disease | C0410538 | GeneticVariation | 0.01 | disgenet |
| Pseudoachondroplasia | HAPLN1 | disease | C0410538 | GeneticVariation | 0.01 | disgenet |
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