| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Cartilage-hair hypoplasia | RMRP | disease | C0220748 | AlteredExpression | 0.7 | orphanet , disgenet |
| Cartilage-hair hypoplasia | RMRP | disease | C0220748 | CausalMutation | 0.7 | orphanet , disgenet |
| Cartilage-hair hypoplasia | RMRP | disease | C0220748 | Biomarker | 0.7 | orphanet , disgenet |
| Cartilage-hair hypoplasia | RMRP | disease | C0220748 | PosttranslationalModification | 0.7 | orphanet , disgenet |
| Cartilage-hair hypoplasia | RMRP | disease | C0220748 | GeneticVariation | 0.7 | orphanet , disgenet |
| Cartilage-hair hypoplasia | MARCKSL1 | disease | C0220748 | GeneticVariation | 0.06 | disgenet |
| Cartilage-hair hypoplasia | MARCKSL1 | disease | C0220748 | Biomarker | 0.06 | disgenet |
| Cartilage-hair hypoplasia | WLS | disease | C0220748 | GeneticVariation | 0.06 | disgenet |
| Cartilage-hair hypoplasia | ABCC1 | disease | C0220748 | Biomarker | 0.06 | disgenet |
| Cartilage-hair hypoplasia | WLS | disease | C0220748 | Biomarker | 0.06 | disgenet |
| Cartilage-hair hypoplasia | ABCC1 | disease | C0220748 | GeneticVariation | 0.06 | disgenet |
| Cartilage-hair hypoplasia | ANOS1 | disease | C0220748 | Biomarker | 0.05 | disgenet |
| Cartilage-hair hypoplasia | ANOS1 | disease | C0220748 | GeneticVariation | 0.05 | disgenet |
| Cartilage-hair hypoplasia | FGFR1 | disease | C0220748 | Biomarker | 0.05 | disgenet |
| Cartilage-hair hypoplasia | FGFR1 | disease | C0220748 | GeneticVariation | 0.05 | disgenet |
| Cartilage-hair hypoplasia | CHD7 | disease | C0220748 | Biomarker | 0.03 | disgenet |
| Cartilage-hair hypoplasia | CHD7 | disease | C0220748 | GeneticVariation | 0.03 | disgenet |
| Cartilage-hair hypoplasia | GNRHR | disease | C0220748 | Biomarker | 0.02 | disgenet |
| Cartilage-hair hypoplasia | GNRHR | disease | C0220748 | GeneticVariation | 0.02 | disgenet |
| Cartilage-hair hypoplasia | AMH | disease | C0220748 | Biomarker | 0.02 | disgenet |
| Cartilage-hair hypoplasia | AMH | disease | C0220748 | AlteredExpression | 0.02 | disgenet |
| Cartilage-hair hypoplasia | EBP | disease | C0220748 | GeneticVariation | 0.02 | disgenet |
| Cartilage-hair hypoplasia | CYP3A4 | disease | C0220748 | AlteredExpression | 0.01 | disgenet |
| Cartilage-hair hypoplasia | FGF21 | disease | C0220748 | Biomarker | 0.01 | disgenet |
| Cartilage-hair hypoplasia | IL11 | disease | C0220748 | GeneticVariation | 0.01 | disgenet |
| Cartilage-hair hypoplasia | NTN1 | disease | C0220748 | GeneticVariation | 0.01 | disgenet |
| Cartilage-hair hypoplasia | SPRY4 | disease | C0220748 | GeneticVariation | 0.01 | disgenet |
| Cartilage-hair hypoplasia | CGA | disease | C0220748 | Biomarker | 0.01 | disgenet |
| Cartilage-hair hypoplasia | GNRH1 | disease | C0220748 | Biomarker | 0.01 | disgenet |
| Cartilage-hair hypoplasia | FGF8 | disease | C0220748 | GeneticVariation | 0.01 | disgenet |
| Cartilage-hair hypoplasia | TACR3 | disease | C0220748 | GeneticVariation | 0.01 | disgenet |
| Cartilage-hair hypoplasia | RSAD2 | disease | C0220748 | Biomarker | 0.01 | disgenet |
| Cartilage-hair hypoplasia | IL17RD | disease | C0220748 | Biomarker | 0.01 | disgenet |
| Cartilage-hair hypoplasia | SOX4 | disease | C0220748 | GeneticVariation | 0.01 | disgenet |
| Cartilage-hair hypoplasia | POP1 | disease | C0220748 | GeneticVariation | 0.01 | disgenet |
| Cartilage-hair hypoplasia | CXCL10 | disease | C0220748 | Biomarker | 0.01 | disgenet |
| Cartilage-hair hypoplasia | CGB5 | disease | C0220748 | Biomarker | 0.01 | disgenet |
| Cartilage-hair hypoplasia | DUSP6 | disease | C0220748 | GeneticVariation | 0.01 | disgenet |
| Cartilage-hair hypoplasia | FN1 | disease | C0220748 | GeneticVariation | 0.01 | disgenet |
| Cartilage-hair hypoplasia | KLB | disease | C0220748 | Biomarker | 0.01 | disgenet |
| Cartilage-hair hypoplasia | TAC3 | disease | C0220748 | GeneticVariation | 0.01 | disgenet |
| Cartilage-hair hypoplasia | POP7 | disease | C0220748 | GeneticVariation | 0.01 | disgenet |
| Cartilage-hair hypoplasia | IGSF10 | disease | C0220748 | GeneticVariation | 0.01 | disgenet |
| Cartilage-hair hypoplasia | CORO1A | disease | C0220748 | GeneticVariation | 0.01 | disgenet |
| Cartilage-hair hypoplasia | FLRT3 | disease | C0220748 | GeneticVariation | 0.01 | disgenet |
| Cartilage-hair hypoplasia | HS6ST1 | disease | C0220748 | GeneticVariation | 0.01 | disgenet |
| Cartilage-hair hypoplasia | CGB8 | disease | C0220748 | Biomarker | 0.01 | disgenet |
| Cartilage-hair hypoplasia | GH1 | disease | C0220748 | Biomarker | 0.01 | disgenet |
| Cartilage-hair hypoplasia | WDR11 | disease | C0220748 | GeneticVariation | 0.01 | disgenet |
| Cartilage-hair hypoplasia | NME1 | disease | C0220748 | Biomarker | 0.01 | disgenet |
| Cartilage-hair hypoplasia | FGF17 | disease | C0220748 | Biomarker | 0.01 | disgenet |
| Cartilage-hair hypoplasia | NR3C2 | disease | C0220748 | Biomarker | 0.01 | disgenet |
| Cartilage-hair hypoplasia | PROK2 | disease | C0220748 | Biomarker | 0.01 | disgenet |
| Cartilage-hair hypoplasia | POP5 | disease | C0220748 | GeneticVariation | 0.01 | disgenet |
| Cartilage-hair hypoplasia | SPRY2 | disease | C0220748 | GeneticVariation | 0.01 | disgenet |
| Cartilage-hair hypoplasia | CAT | disease | C0220748 | AlteredExpression | 0.01 | disgenet |
| Cartilage-hair hypoplasia | CGB3 | disease | C0220748 | Biomarker | 0.01 | disgenet |
| Cartilage-hair hypoplasia | LHCGR | disease | C0220748 | GeneticVariation | 0.01 | disgenet |
| Cartilage-hair hypoplasia | HTC2 | disease | C0220748 | Biomarker | 0.01 | disgenet |
| Cartilage-hair hypoplasia | RPP25 | disease | C0220748 | GeneticVariation | 0.01 | disgenet |
| Cartilage-hair hypoplasia | SMAD2 | disease | C0220748 | Biomarker | 0.01 | disgenet |
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