| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Achondroplasia | FGFR3 | disease | C0001080 | Biomarker | 1 | orphanet , disgenet |
| Achondroplasia | FGFR3 | disease | C0001080 | GeneticVariation | 1 | orphanet , disgenet |
| Achondroplasia | FGFR3 | disease | C0001080 | CausalMutation | 1 | orphanet , disgenet |
| Achondroplasia | FGFR3 | disease | C0001080 | AlteredExpression | 1 | orphanet , disgenet |
| Achondroplasia | FGFR3 | disease | C0001080 | GermlineCausalMutation | 1 | orphanet , disgenet |
| Achondroplasia | PTHLH | disease | C0001080 | AlteredExpression | 0.21 | disgenet |
| Achondroplasia | NPR2 | disease | C0001080 | Biomarker | 0.21 | disgenet |
| Achondroplasia | PTHLH | disease | C0001080 | Biomarker | 0.21 | disgenet |
| Achondroplasia | NPR2 | disease | C0001080 | GeneticVariation | 0.21 | disgenet |
| Achondroplasia | SPRED2 | disease | C0001080 | Biomarker | 0.21 | disgenet |
| Achondroplasia | NPPC | disease | C0001080 | Biomarker | 0.09 | disgenet |
| Achondroplasia | NPPC | disease | C0001080 | GeneticVariation | 0.09 | disgenet |
| Achondroplasia | GH1 | disease | C0001080 | Biomarker | 0.09 | disgenet |
| Achondroplasia | FGF1 | disease | C0001080 | Biomarker | 0.03 | disgenet |
| Achondroplasia | FGF1 | disease | C0001080 | AlteredExpression | 0.03 | disgenet |
| Achondroplasia | FGF1 | disease | C0001080 | GeneticVariation | 0.03 | disgenet |
| Achondroplasia | CNP | disease | C0001080 | Biomarker | 0.03 | disgenet |
| Achondroplasia | PTH | disease | C0001080 | Biomarker | 0.03 | disgenet |
| Achondroplasia | PTRH1 | disease | C0001080 | Biomarker | 0.02 | disgenet |
| Achondroplasia | SHOX | disease | C0001080 | GeneticVariation | 0.02 | disgenet |
| Achondroplasia | FGF2 | disease | C0001080 | GeneticVariation | 0.02 | disgenet |
| Achondroplasia | SHOX | disease | C0001080 | AlteredExpression | 0.02 | disgenet |
| Achondroplasia | MAPK3 | disease | C0001080 | Biomarker | 0.01 | disgenet |
| Achondroplasia | CAV1 | disease | C0001080 | AlteredExpression | 0.01 | disgenet |
| Achondroplasia | DCN | disease | C0001080 | GeneticVariation | 0.01 | disgenet |
| Achondroplasia | POU1F1 | disease | C0001080 | GeneticVariation | 0.01 | disgenet |
| Achondroplasia | STAT5A | disease | C0001080 | Biomarker | 0.01 | disgenet |
| Achondroplasia | IL17A | disease | C0001080 | GeneticVariation | 0.01 | disgenet |
| Achondroplasia | IGF1 | disease | C0001080 | Biomarker | 0.01 | disgenet |
| Achondroplasia | BCL2 | disease | C0001080 | AlteredExpression | 0.01 | disgenet |
| Achondroplasia | STAT5B | disease | C0001080 | Biomarker | 0.01 | disgenet |
| Achondroplasia | EVC | disease | C0001080 | Biomarker | 0.01 | disgenet |
| Achondroplasia | NLRP3 | disease | C0001080 | AlteredExpression | 0.01 | disgenet |
| Achondroplasia | IL36RN | disease | C0001080 | GeneticVariation | 0.01 | disgenet |
| Achondroplasia | AGT | disease | C0001080 | Biomarker | 0.01 | disgenet |
| Achondroplasia | IGHD | disease | C0001080 | GeneticVariation | 0.01 | disgenet |
| Achondroplasia | LEMD3 | disease | C0001080 | GeneticVariation | 0.01 | disgenet |
| Achondroplasia | EDN3 | disease | C0001080 | Biomarker | 0.01 | disgenet |
| Achondroplasia | ARID1B | disease | C0001080 | Biomarker | 0.01 | disgenet |
| Achondroplasia | CYP2C19 | disease | C0001080 | GeneticVariation | 0.01 | disgenet |
| Achondroplasia | ACAN | disease | C0001080 | Biomarker | 0.01 | disgenet |
| Achondroplasia | FGFR2 | disease | C0001080 | GeneticVariation | 0.01 | disgenet |
| Achondroplasia | STAT1 | disease | C0001080 | Biomarker | 0.01 | disgenet |
| Achondroplasia | TNF | disease | C0001080 | AlteredExpression | 0.01 | disgenet |
| Achondroplasia | GRB10 | disease | C0001080 | GeneticVariation | 0.01 | disgenet |
| Achondroplasia | TP63 | disease | C0001080 | Biomarker | 0.01 | disgenet |
| Achondroplasia | COL10A1 | disease | C0001080 | GeneticVariation | 0.01 | disgenet |
| Achondroplasia | COL2A1 | disease | C0001080 | GeneticVariation | 0.01 | disgenet |
| Achondroplasia | HDAC6 | disease | C0001080 | Biomarker | 0.01 | disgenet |
| Achondroplasia | SNAI1 | disease | C0001080 | AlteredExpression | 0.01 | disgenet |
| Achondroplasia | MSX1 | disease | C0001080 | GeneticVariation | 0.01 | disgenet |
| Achondroplasia | EPHB2 | disease | C0001080 | Biomarker | 0.01 | disgenet |
| Achondroplasia | CCND1 | disease | C0001080 | Biomarker | 0.01 | disgenet |
| Achondroplasia | IFT20 | disease | C0001080 | Biomarker | 0.01 | disgenet |
| Achondroplasia | MAPK1 | disease | C0001080 | Biomarker | 0.01 | disgenet |
| Achondroplasia | SLC20A1 | disease | C0001080 | GeneticVariation | 0.01 | disgenet |
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