| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Bone Disease, Developmental | TRPS1 | group | C0005941 | Biomarker | 0.31 | disgenet |
| Bone Disease, Developmental | ABL1 | group | C0005941 | Biomarker | 0.31 | disgenet |
| Bone Disease, Developmental | NIPBL | group | C0005941 | Biomarker | 0.3 | disgenet |
| Bone Disease, Developmental | IFT80 | group | C0005941 | Biomarker | 0.3 | disgenet |
| Bone Disease, Developmental | RPS6KA3 | group | C0005941 | Biomarker | 0.3 | disgenet |
| Bone Disease, Developmental | TMCO1 | group | C0005941 | Biomarker | 0.3 | disgenet |
| Bone Disease, Developmental | ANK1 | group | C0005941 | Biomarker | 0.3 | disgenet |
| Bone Disease, Developmental | PCSK5 | group | C0005941 | Biomarker | 0.3 | disgenet |
| Bone Disease, Developmental | BMPR1B | group | C0005941 | Biomarker | 0.3 | disgenet |
| Bone Disease, Developmental | ZIC3 | group | C0005941 | Biomarker | 0.3 | disgenet |
| Bone Disease, Developmental | KIF3A | group | C0005941 | Biomarker | 0.3 | disgenet |
| Bone Disease, Developmental | TGFB2 | group | C0005941 | Biomarker | 0.3 | disgenet |
| Bone Disease, Developmental | SLC34A1 | group | C0005941 | Biomarker | 0.3 | disgenet |
| Bone Disease, Developmental | MIR17HG | group | C0005941 | Biomarker | 0.3 | disgenet |
| Bone Disease, Developmental | DLX5 | group | C0005941 | Biomarker | 0.3 | disgenet |
| Bone Disease, Developmental | IGF2 | group | C0005941 | Biomarker | 0.3 | disgenet |
| Bone Disease, Developmental | NANS | group | C0005941 | Biomarker | 0.3 | disgenet |
| Bone Disease, Developmental | ITGB1BP1 | group | C0005941 | Biomarker | 0.3 | disgenet |
| Bone Disease, Developmental | CHUK | group | C0005941 | Biomarker | 0.3 | disgenet |
| Bone Disease, Developmental | HOXD11 | group | C0005941 | Biomarker | 0.3 | disgenet |
| Bone Disease, Developmental | CHRNG | group | C0005941 | Biomarker | 0.3 | disgenet |
| Bone Disease, Developmental | GLB1 | group | C0005941 | Biomarker | 0.3 | disgenet |
| Bone Disease, Developmental | NPPC | group | C0005941 | Biomarker | 0.3 | disgenet |
| Bone Disease, Developmental | SLC26A2 | group | C0005941 | Biomarker | 0.3 | disgenet |
| Bone Disease, Developmental | SH3PXD2B | group | C0005941 | Biomarker | 0.3 | disgenet |
| Bone Disease, Developmental | AFF4 | group | C0005941 | Biomarker | 0.3 | disgenet |
| Bone Disease, Developmental | CBFB | group | C0005941 | Biomarker | 0.3 | disgenet |
| Bone Disease, Developmental | TP53 | group | C0005941 | Biomarker | 0.2 | disgenet |
| Bone Disease, Developmental | SOST | group | C0005941 | GeneticVariation | 0.06 | disgenet |
| Bone Disease, Developmental | FGFR3 | group | C0005941 | GeneticVariation | 0.06 | disgenet |
| Bone Disease, Developmental | SOST | group | C0005941 | Biomarker | 0.06 | disgenet |
| Bone Disease, Developmental | FGFR3 | group | C0005941 | AlteredExpression | 0.06 | disgenet |
| Bone Disease, Developmental | FAM20C | group | C0005941 | GeneticVariation | 0.04 | disgenet |
| Bone Disease, Developmental | COMP | group | C0005941 | Biomarker | 0.02 | disgenet |
| Bone Disease, Developmental | LEMD3 | group | C0005941 | GeneticVariation | 0.02 | disgenet |
| Bone Disease, Developmental | COL2A1 | group | C0005941 | GeneticVariation | 0.02 | disgenet |
| Bone Disease, Developmental | TGFB1 | group | C0005941 | GeneticVariation | 0.02 | disgenet |
| Bone Disease, Developmental | TRPV4 | group | C0005941 | GeneticVariation | 0.02 | disgenet |
| Bone Disease, Developmental | NF1 | group | C0005941 | AlteredExpression | 0.02 | disgenet |
| Bone Disease, Developmental | CALCA | group | C0005941 | GeneticVariation | 0.02 | disgenet |
| Bone Disease, Developmental | COMP | group | C0005941 | GeneticVariation | 0.02 | disgenet |
| Bone Disease, Developmental | CALCA | group | C0005941 | AlteredExpression | 0.02 | disgenet |
| Bone Disease, Developmental | NF1 | group | C0005941 | Biomarker | 0.02 | disgenet |
| Bone Disease, Developmental | LEMD3 | group | C0005941 | Biomarker | 0.02 | disgenet |
| Bone Disease, Developmental | IL6 | group | C0005941 | Biomarker | 0.02 | disgenet |
| Bone Disease, Developmental | CTSK | group | C0005941 | GeneticVariation | 0.01 | disgenet |
| Bone Disease, Developmental | COL9A3 | group | C0005941 | Biomarker | 0.01 | disgenet |
| Bone Disease, Developmental | NR3C1 | group | C0005941 | AlteredExpression | 0.01 | disgenet |
| Bone Disease, Developmental | RPL13 | group | C0005941 | GeneticVariation | 0.01 | disgenet |
| Bone Disease, Developmental | DMP1 | group | C0005941 | GeneticVariation | 0.01 | disgenet |
| Bone Disease, Developmental | NFIX | group | C0005941 | GeneticVariation | 0.01 | disgenet |
| Bone Disease, Developmental | TCTN3 | group | C0005941 | GeneticVariation | 0.01 | disgenet |
| Bone Disease, Developmental | LRP5 | group | C0005941 | GeneticVariation | 0.01 | disgenet |
| Bone Disease, Developmental | PNPLA6 | group | C0005941 | GeneticVariation | 0.01 | disgenet |
| Bone Disease, Developmental | ABCC1 | group | C0005941 | AlteredExpression | 0.01 | disgenet |
| Bone Disease, Developmental | GYPB | group | C0005941 | GeneticVariation | 0.01 | disgenet |
| Bone Disease, Developmental | TCFL5 | group | C0005941 | Biomarker | 0.01 | disgenet |
| Bone Disease, Developmental | PHEX | group | C0005941 | GeneticVariation | 0.01 | disgenet |
| Bone Disease, Developmental | TCIRG1 | group | C0005941 | GeneticVariation | 0.01 | disgenet |
| Bone Disease, Developmental | P4HA1 | group | C0005941 | GeneticVariation | 0.01 | disgenet |
| Bone Disease, Developmental | GYPA | group | C0005941 | GeneticVariation | 0.01 | disgenet |
| Bone Disease, Developmental | GYPE | group | C0005941 | GeneticVariation | 0.01 | disgenet |
| Bone Disease, Developmental | TMEM165 | group | C0005941 | Biomarker | 0.01 | disgenet |
| Bone Disease, Developmental | REN | group | C0005941 | AlteredExpression | 0.01 | disgenet |
| Bone Disease, Developmental | SCN8A | group | C0005941 | Biomarker | 0.01 | disgenet |
| Bone Disease, Developmental | MARCKSL1 | group | C0005941 | AlteredExpression | 0.01 | disgenet |
| Bone Disease, Developmental | HTR1B | group | C0005941 | Biomarker | 0.01 | disgenet |
| Bone Disease, Developmental | THRA1/BTR | group | C0005941 | GeneticVariation | 0.01 | disgenet |
| Bone Disease, Developmental | IGF1 | group | C0005941 | AlteredExpression | 0.01 | disgenet |
| Bone Disease, Developmental | FGF23 | group | C0005941 | GeneticVariation | 0.01 | disgenet |
| Bone Disease, Developmental | GPC6 | group | C0005941 | Biomarker | 0.01 | disgenet |
| Bone Disease, Developmental | COL9A1 | group | C0005941 | Biomarker | 0.01 | disgenet |
| Bone Disease, Developmental | HRAS | group | C0005941 | GeneticVariation | 0.01 | disgenet |
| Bone Disease, Developmental | PPIB | group | C0005941 | GeneticVariation | 0.01 | disgenet |
| Bone Disease, Developmental | LBR | group | C0005941 | GeneticVariation | 0.01 | disgenet |
| Bone Disease, Developmental | TNFRSF11A | group | C0005941 | GeneticVariation | 0.01 | disgenet |
| Bone Disease, Developmental | GPC4 | group | C0005941 | Biomarker | 0.01 | disgenet |
| Bone Disease, Developmental | PCYT1A | group | C0005941 | GeneticVariation | 0.01 | disgenet |
| Bone Disease, Developmental | PRKAR1A | group | C0005941 | Biomarker | 0.01 | disgenet |
| Bone Disease, Developmental | TPH1 | group | C0005941 | Biomarker | 0.01 | disgenet |
| Bone Disease, Developmental | RMRP | group | C0005941 | Biomarker | 0.01 | disgenet |
| Bone Disease, Developmental | FLNA | group | C0005941 | GeneticVariation | 0.01 | disgenet |
| Bone Disease, Developmental | RUNX2 | group | C0005941 | GeneticVariation | 0.01 | disgenet |
| Bone Disease, Developmental | AMER1 | group | C0005941 | GeneticVariation | 0.01 | disgenet |
| Bone Disease, Developmental | WLS | group | C0005941 | AlteredExpression | 0.01 | disgenet |
| Bone Disease, Developmental | THRA | group | C0005941 | GeneticVariation | 0.01 | disgenet |
| Bone Disease, Developmental | COL9A2 | group | C0005941 | Biomarker | 0.01 | disgenet |
| Bone Disease, Developmental | PAX9 | group | C0005941 | GeneticVariation | 0.01 | disgenet |
| Bone Disease, Developmental | FGFR2 | NA | C0005941 | NA | NA | orphanet |
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