| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Sprengel deformity | NPR2 | disease | C0152438 | Biomarker | 0.1 | disgenet |
| Sprengel deformity | COL3A1 | disease | C0152438 | Biomarker | 0.1 | disgenet |
| Sprengel deformity | PTCH2 | disease | C0152438 | Biomarker | 0.1 | disgenet |
| Sprengel deformity | PTPN11 | disease | C0152438 | Biomarker | 0.1 | disgenet |
| Sprengel deformity | GDF3 | disease | C0152438 | Biomarker | 0.1 | disgenet |
| Sprengel deformity | SYNE2 | disease | C0152438 | Biomarker | 0.1 | disgenet |
| Sprengel deformity | TMCO1 | disease | C0152438 | Biomarker | 0.1 | disgenet |
| Sprengel deformity | THRB | disease | C0152438 | Biomarker | 0.1 | disgenet |
| Sprengel deformity | TBX3 | disease | C0152438 | Biomarker | 0.1 | disgenet |
| Sprengel deformity | PAX3 | disease | C0152438 | Biomarker | 0.1 | disgenet |
| Sprengel deformity | EFNB1 | disease | C0152438 | Biomarker | 0.1 | disgenet |
| Sprengel deformity | TMEM43 | disease | C0152438 | Biomarker | 0.1 | disgenet |
| Sprengel deformity | SYNE1 | disease | C0152438 | Biomarker | 0.1 | disgenet |
| Sprengel deformity | THOC6 | disease | C0152438 | CausalMutation | 0.1 | disgenet |
| Sprengel deformity | MEOX1 | disease | C0152438 | Biomarker | 0.1 | disgenet |
| Sprengel deformity | BRAF | disease | C0152438 | Biomarker | 0.1 | disgenet |
| Sprengel deformity | TBX2 | disease | C0152438 | Biomarker | 0.1 | disgenet |
| Sprengel deformity | TBX2 | disease | C0152438 | CausalMutation | 0.1 | disgenet |
| Sprengel deformity | TBX5 | disease | C0152438 | Biomarker | 0.1 | disgenet |
| Sprengel deformity | SUFU | disease | C0152438 | Biomarker | 0.1 | disgenet |
| Sprengel deformity | LMNA | disease | C0152438 | Biomarker | 0.1 | disgenet |
| Sprengel deformity | EMD | disease | C0152438 | Biomarker | 0.1 | disgenet |
| Sprengel deformity | RPL11 | disease | C0152438 | Biomarker | 0.1 | disgenet |
| Sprengel deformity | RAF1 | disease | C0152438 | Biomarker | 0.1 | disgenet |
| Sprengel deformity | SEPTIN9 | disease | C0152438 | Biomarker | 0.1 | disgenet |
| Sprengel deformity | GDF6 | disease | C0152438 | Biomarker | 0.1 | disgenet |
| Sprengel deformity | SF3B4 | disease | C0152438 | Biomarker | 0.1 | disgenet |
| Sprengel deformity | PTCH1 | disease | C0152438 | Biomarker | 0.1 | disgenet |
| Sprengel deformity | FHL1 | disease | C0152438 | Biomarker | 0.1 | disgenet |
| Sprengel deformity | HSPG2 | disease | C0152438 | Biomarker | 0.1 | disgenet |
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