Disease Information | ||||||
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Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
Cleidocranial Dysplasia | RUNX2 | disease | C0008928 | Biomarker | 1 | orphanet , disgenet |
Cleidocranial Dysplasia | RUNX2 | disease | C0008928 | CausalMutation | 1 | orphanet , disgenet |
Cleidocranial Dysplasia | RUNX2 | disease | C0008928 | GermlineCausalMutation | 1 | orphanet , disgenet |
Cleidocranial Dysplasia | RUNX2 | disease | C0008928 | GeneticVariation | 1 | orphanet , disgenet |
Cleidocranial Dysplasia | RUNX2 | disease | C0008928 | AlteredExpression | 1 | orphanet , disgenet |
Cleidocranial Dysplasia | RYR1 | disease | C0008928 | Biomarker | 0.39 | disgenet |
Cleidocranial Dysplasia | RYR1 | disease | C0008928 | GeneticVariation | 0.39 | disgenet |
Cleidocranial Dysplasia | CEBPB | disease | C0008928 | Biomarker | 0.21 | disgenet |
Cleidocranial Dysplasia | RNF146 | disease | C0008928 | Biomarker | 0.21 | disgenet |
Cleidocranial Dysplasia | SLC26A3 | disease | C0008928 | GeneticVariation | 0.04 | disgenet |
Cleidocranial Dysplasia | SLC26A3 | disease | C0008928 | Biomarker | 0.04 | disgenet |
Cleidocranial Dysplasia | BTF3P11 | disease | C0008928 | AlteredExpression | 0.03 | disgenet |
Cleidocranial Dysplasia | BTF3P11 | disease | C0008928 | Biomarker | 0.03 | disgenet |
Cleidocranial Dysplasia | TNFRSF11B | disease | C0008928 | AlteredExpression | 0.03 | disgenet |
Cleidocranial Dysplasia | TNFRSF11B | disease | C0008928 | Biomarker | 0.03 | disgenet |
Cleidocranial Dysplasia | TNFSF11 | disease | C0008928 | AlteredExpression | 0.02 | disgenet |
Cleidocranial Dysplasia | LMNA | disease | C0008928 | GeneticVariation | 0.02 | disgenet |
Cleidocranial Dysplasia | MYC | disease | C0008928 | Biomarker | 0.01 | disgenet |
Cleidocranial Dysplasia | TNNI3K | disease | C0008928 | AlteredExpression | 0.01 | disgenet |
Cleidocranial Dysplasia | MIR31 | disease | C0008928 | Biomarker | 0.01 | disgenet |
Cleidocranial Dysplasia | RPTOR | disease | C0008928 | Biomarker | 0.01 | disgenet |
Cleidocranial Dysplasia | MSX2 | disease | C0008928 | Biomarker | 0.01 | disgenet |
Cleidocranial Dysplasia | TCTE1 | disease | C0008928 | GeneticVariation | 0.01 | disgenet |
Cleidocranial Dysplasia | CREBBP | disease | C0008928 | Biomarker | 0.01 | disgenet |
Cleidocranial Dysplasia | PIN1 | disease | C0008928 | GeneticVariation | 0.01 | disgenet |
Cleidocranial Dysplasia | SIRT1 | disease | C0008928 | AlteredExpression | 0.01 | disgenet |
Cleidocranial Dysplasia | PRKAB1 | disease | C0008928 | Biomarker | 0.01 | disgenet |
Cleidocranial Dysplasia | SLC22A3 | disease | C0008928 | Biomarker | 0.01 | disgenet |
Cleidocranial Dysplasia | ELANE | disease | C0008928 | AlteredExpression | 0.01 | disgenet |
Cleidocranial Dysplasia | OPN1LW | disease | C0008928 | Biomarker | 0.01 | disgenet |
Cleidocranial Dysplasia | RUNX1 | disease | C0008928 | GeneticVariation | 0.01 | disgenet |
Cleidocranial Dysplasia | PRKAA1 | disease | C0008928 | Biomarker | 0.01 | disgenet |
Cleidocranial Dysplasia | PCBP4 | disease | C0008928 | Biomarker | 0.01 | disgenet |
Cleidocranial Dysplasia | POU5F1P4 | disease | C0008928 | Biomarker | 0.01 | disgenet |
Cleidocranial Dysplasia | MYL3 | disease | C0008928 | AlteredExpression | 0.01 | disgenet |
Cleidocranial Dysplasia | IBSP | disease | C0008928 | AlteredExpression | 0.01 | disgenet |
Cleidocranial Dysplasia | PRKAA2 | disease | C0008928 | Biomarker | 0.01 | disgenet |
Cleidocranial Dysplasia | EIF4E | disease | C0008928 | Biomarker | 0.01 | disgenet |
Cleidocranial Dysplasia | TNFRSF11A | disease | C0008928 | Biomarker | 0.01 | disgenet |
Cleidocranial Dysplasia | TBX1 | disease | C0008928 | GeneticVariation | 0.01 | disgenet |
Cleidocranial Dysplasia | PRKN | disease | C0008928 | Biomarker | 0.01 | disgenet |
Cleidocranial Dysplasia | ADAMTS13 | disease | C0008928 | AlteredExpression | 0.01 | disgenet |
Cleidocranial Dysplasia | SOX9 | disease | C0008928 | GeneticVariation | 0.01 | disgenet |
Cleidocranial Dysplasia | ALDH2 | disease | C0008928 | Biomarker | 0.01 | disgenet |
Cleidocranial Dysplasia | MUL1 | disease | C0008928 | Biomarker | 0.01 | disgenet |
Cleidocranial Dysplasia | PAG1 | disease | C0008928 | Biomarker | 0.01 | disgenet |
Cleidocranial Dysplasia | STK11 | disease | C0008928 | Biomarker | 0.01 | disgenet |
Cleidocranial Dysplasia | MIR185 | disease | C0008928 | Biomarker | 0.01 | disgenet |
Cleidocranial Dysplasia | SCN5A | disease | C0008928 | GeneticVariation | 0.01 | disgenet |
Cleidocranial Dysplasia | TCF7 | disease | C0008928 | Biomarker | 0.01 | disgenet |
Cleidocranial Dysplasia | BMP6 | disease | C0008928 | Biomarker | 0.01 | disgenet |
Cleidocranial Dysplasia | IGFBP2 | disease | C0008928 | Biomarker | 0.01 | disgenet |
Cleidocranial Dysplasia | CBLL2 | disease | C0008928 | Biomarker | 0.01 | disgenet |
Cleidocranial Dysplasia | DSPP | disease | C0008928 | Biomarker | 0.01 | disgenet |
Cleidocranial Dysplasia | IL17A | disease | C0008928 | AlteredExpression | 0.01 | disgenet |
Cleidocranial Dysplasia | NELL1 | disease | C0008928 | AlteredExpression | 0.01 | disgenet |
Cleidocranial Dysplasia | POU5F1P3 | disease | C0008928 | Biomarker | 0.01 | disgenet |
Cleidocranial Dysplasia | POU5F1 | disease | C0008928 | Biomarker | 0.01 | disgenet |
Cleidocranial Dysplasia | PHGDH | disease | C0008928 | Biomarker | 0.01 | disgenet |
Cleidocranial Dysplasia | FGFR1 | disease | C0008928 | Biomarker | 0.01 | disgenet |
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