| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Shprintzen Golberg craniosynostosis | SKI | disease | C1321551 | GeneticVariation | 0.74 | orphanet , disgenet |
| Shprintzen Golberg craniosynostosis | SKI | disease | C1321551 | Biomarker | 0.74 | orphanet , disgenet |
| Shprintzen Golberg craniosynostosis | SKI | disease | C1321551 | GermlineCausalMutation | 0.74 | orphanet , disgenet |
| Shprintzen Golberg craniosynostosis | SKI | disease | C1321551 | CausalMutation | 0.74 | orphanet , disgenet |
| Shprintzen Golberg craniosynostosis | FBN1 | disease | C1321551 | Biomarker | 0.53 | orphanet , disgenet |
| Shprintzen Golberg craniosynostosis | FBN1 | disease | C1321551 | GeneticVariation | 0.53 | orphanet , disgenet |
| Shprintzen Golberg craniosynostosis | FBN1 | disease | C1321551 | AlteredExpression | 0.53 | orphanet , disgenet |
| Shprintzen Golberg craniosynostosis | KIFBP | disease | C1321551 | CausalMutation | 0.1 | disgenet |
| Shprintzen Golberg craniosynostosis | DGCR | disease | C1321551 | Biomarker | 0.1 | disgenet |
| Shprintzen Golberg craniosynostosis | DGCR | disease | C1321551 | GeneticVariation | 0.1 | disgenet |
| Shprintzen Golberg craniosynostosis | TBX1 | disease | C1321551 | AlteredExpression | 0.1 | disgenet |
| Shprintzen Golberg craniosynostosis | TBX1 | disease | C1321551 | Biomarker | 0.1 | disgenet |
| Shprintzen Golberg craniosynostosis | TBX1 | disease | C1321551 | GeneticVariation | 0.1 | disgenet |
| Shprintzen Golberg craniosynostosis | HIRA | disease | C1321551 | Biomarker | 0.09 | disgenet |
| Shprintzen Golberg craniosynostosis | HIRA | disease | C1321551 | AlteredExpression | 0.09 | disgenet |
| Shprintzen Golberg craniosynostosis | COMT | disease | C1321551 | Biomarker | 0.07 | disgenet |
| Shprintzen Golberg craniosynostosis | COMT | disease | C1321551 | GeneticVariation | 0.07 | disgenet |
| Shprintzen Golberg craniosynostosis | CHD7 | disease | C1321551 | Biomarker | 0.06 | disgenet |
| Shprintzen Golberg craniosynostosis | CHD7 | disease | C1321551 | GeneticVariation | 0.06 | disgenet |
| Shprintzen Golberg craniosynostosis | DGCR8 | disease | C1321551 | Biomarker | 0.04 | disgenet |
| Shprintzen Golberg craniosynostosis | DGCR6 | disease | C1321551 | Biomarker | 0.04 | disgenet |
| Shprintzen Golberg craniosynostosis | DGCR6 | disease | C1321551 | AlteredExpression | 0.04 | disgenet |
| Shprintzen Golberg craniosynostosis | DGCR8 | disease | C1321551 | GeneticVariation | 0.04 | disgenet |
| Shprintzen Golberg craniosynostosis | DGCR2 | disease | C1321551 | GeneticVariation | 0.03 | disgenet |
| Shprintzen Golberg craniosynostosis | DGS2 | disease | C1321551 | Biomarker | 0.03 | disgenet |
| Shprintzen Golberg craniosynostosis | DGCR2 | disease | C1321551 | Biomarker | 0.03 | disgenet |
| Shprintzen Golberg craniosynostosis | DGS2 | disease | C1321551 | GeneticVariation | 0.03 | disgenet |
| Shprintzen Golberg craniosynostosis | HTC2 | disease | C1321551 | Biomarker | 0.02 | disgenet |
| Shprintzen Golberg craniosynostosis | UFD1 | disease | C1321551 | Biomarker | 0.02 | disgenet |
| Shprintzen Golberg craniosynostosis | HTC2 | disease | C1321551 | GeneticVariation | 0.02 | disgenet |
| Shprintzen Golberg craniosynostosis | ZNF74 | disease | C1321551 | Biomarker | 0.02 | disgenet |
| Shprintzen Golberg craniosynostosis | CDC45 | disease | C1321551 | Biomarker | 0.02 | disgenet |
| Shprintzen Golberg craniosynostosis | UFD1 | disease | C1321551 | AlteredExpression | 0.02 | disgenet |
| Shprintzen Golberg craniosynostosis | TGFBR2 | disease | C1321551 | Biomarker | 0.02 | disgenet |
| Shprintzen Golberg craniosynostosis | PRODH | disease | C1321551 | AlteredExpression | 0.02 | disgenet |
| Shprintzen Golberg craniosynostosis | PRODH | disease | C1321551 | Biomarker | 0.02 | disgenet |
| Shprintzen Golberg craniosynostosis | TGFBR2 | disease | C1321551 | GeneticVariation | 0.02 | disgenet |
| Shprintzen Golberg craniosynostosis | SLC25A1 | disease | C1321551 | Biomarker | 0.02 | disgenet |
| Shprintzen Golberg craniosynostosis | CRKL | disease | C1321551 | Biomarker | 0.02 | disgenet |
| Shprintzen Golberg craniosynostosis | SLC25A1 | disease | C1321551 | GeneticVariation | 0.02 | disgenet |
| Shprintzen Golberg craniosynostosis | TBX5 | disease | C1321551 | GeneticVariation | 0.02 | disgenet |
| Shprintzen Golberg craniosynostosis | CRKL | disease | C1321551 | GeneticVariation | 0.02 | disgenet |
| Shprintzen Golberg craniosynostosis | GNB1L | disease | C1321551 | Biomarker | 0.01 | disgenet |
| Shprintzen Golberg craniosynostosis | RAC2 | disease | C1321551 | GeneticVariation | 0.01 | disgenet |
| Shprintzen Golberg craniosynostosis | RPS6KB2 | disease | C1321551 | GeneticVariation | 0.01 | disgenet |
| Shprintzen Golberg craniosynostosis | EYA1 | disease | C1321551 | GeneticVariation | 0.01 | disgenet |
| Shprintzen Golberg craniosynostosis | ARSA | disease | C1321551 | GeneticVariation | 0.01 | disgenet |
| Shprintzen Golberg craniosynostosis | SULT1E1 | disease | C1321551 | Biomarker | 0.01 | disgenet |
| Shprintzen Golberg craniosynostosis | MAP3K8 | disease | C1321551 | Biomarker | 0.01 | disgenet |
| Shprintzen Golberg craniosynostosis | SMAD2 | disease | C1321551 | Biomarker | 0.01 | disgenet |
| Shprintzen Golberg craniosynostosis | MIR132 | disease | C1321551 | AlteredExpression | 0.01 | disgenet |
| Shprintzen Golberg craniosynostosis | CD27 | disease | C1321551 | Biomarker | 0.01 | disgenet |
| Shprintzen Golberg craniosynostosis | ZAP70 | disease | C1321551 | GeneticVariation | 0.01 | disgenet |
| Shprintzen Golberg craniosynostosis | CTNNB1 | disease | C1321551 | Biomarker | 0.01 | disgenet |
| Shprintzen Golberg craniosynostosis | DGCR5 | disease | C1321551 | Biomarker | 0.01 | disgenet |
| Shprintzen Golberg craniosynostosis | ELN | disease | C1321551 | GeneticVariation | 0.01 | disgenet |
| Shprintzen Golberg craniosynostosis | CELF2 | disease | C1321551 | GeneticVariation | 0.01 | disgenet |
| Shprintzen Golberg craniosynostosis | LAMC1 | disease | C1321551 | Biomarker | 0.01 | disgenet |
| Shprintzen Golberg craniosynostosis | APOL1 | disease | C1321551 | Biomarker | 0.01 | disgenet |
| Shprintzen Golberg craniosynostosis | EDN1 | disease | C1321551 | Biomarker | 0.01 | disgenet |
| Shprintzen Golberg craniosynostosis | CHRNA7 | disease | C1321551 | GeneticVariation | 0.01 | disgenet |
| Shprintzen Golberg craniosynostosis | BMP4 | disease | C1321551 | PosttranslationalModification | 0.01 | disgenet |
| Shprintzen Golberg craniosynostosis | TCL6 | disease | C1321551 | Biomarker | 0.01 | disgenet |
| Shprintzen Golberg craniosynostosis | NKX2-6 | disease | C1321551 | Biomarker | 0.01 | disgenet |
| Shprintzen Golberg craniosynostosis | MIR185 | disease | C1321551 | GeneticVariation | 0.01 | disgenet |
| Shprintzen Golberg craniosynostosis | RANBP1 | disease | C1321551 | Biomarker | 0.01 | disgenet |
| Shprintzen Golberg craniosynostosis | SMAD4 | disease | C1321551 | Biomarker | 0.01 | disgenet |
| Shprintzen Golberg craniosynostosis | PRDM9 | disease | C1321551 | GeneticVariation | 0.01 | disgenet |
| Shprintzen Golberg craniosynostosis | MMP9 | disease | C1321551 | Biomarker | 0.01 | disgenet |
| Shprintzen Golberg craniosynostosis | SCZD12 | disease | C1321551 | Biomarker | 0.01 | disgenet |
| Shprintzen Golberg craniosynostosis | TBX3 | disease | C1321551 | GeneticVariation | 0.01 | disgenet |
| Shprintzen Golberg craniosynostosis | FOXN1 | disease | C1321551 | GeneticVariation | 0.01 | disgenet |
| Shprintzen Golberg craniosynostosis | SEPTIN5 | disease | C1321551 | Biomarker | 0.01 | disgenet |
| Shprintzen Golberg craniosynostosis | TGFBR1 | disease | C1321551 | GeneticVariation | 0.01 | disgenet |
| Shprintzen Golberg craniosynostosis | SLC7A4 | disease | C1321551 | Biomarker | 0.01 | disgenet |
| Shprintzen Golberg craniosynostosis | CECR2 | disease | C1321551 | GeneticVariation | 0.01 | disgenet |
| Shprintzen Golberg craniosynostosis | CECR7 | disease | C1321551 | GeneticVariation | 0.01 | disgenet |
| Shprintzen Golberg craniosynostosis | IL2 | disease | C1321551 | GeneticVariation | 0.01 | disgenet |
| Shprintzen Golberg craniosynostosis | NAAA | disease | C1321551 | Biomarker | 0.01 | disgenet |
| Shprintzen Golberg craniosynostosis | CPO | disease | C1321551 | Biomarker | 0.01 | disgenet |
| Shprintzen Golberg craniosynostosis | GATA3 | disease | C1321551 | Biomarker | 0.01 | disgenet |
| Shprintzen Golberg craniosynostosis | SETBP1 | disease | C1321551 | GeneticVariation | 0.01 | disgenet |
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