| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| SHORT syndrome | PIK3R1 | disease | C0878684 | Biomarker | 0.8 | orphanet , disgenet |
| SHORT syndrome | PIK3R1 | disease | C0878684 | GermlineCausalMutation | 0.8 | orphanet , disgenet |
| SHORT syndrome | PIK3R1 | disease | C0878684 | CausalMutation | 0.8 | orphanet , disgenet |
| SHORT syndrome | PIK3R1 | disease | C0878684 | GeneticVariation | 0.8 | orphanet , disgenet |
| SHORT syndrome | PIK3CA | disease | C0878684 | AlteredExpression | 0.04 | disgenet |
| SHORT syndrome | PIK3CG | disease | C0878684 | GeneticVariation | 0.04 | disgenet |
| SHORT syndrome | PIK3CA | disease | C0878684 | GeneticVariation | 0.04 | disgenet |
| SHORT syndrome | PIK3CB | disease | C0878684 | AlteredExpression | 0.04 | disgenet |
| SHORT syndrome | PIK3CD | disease | C0878684 | AlteredExpression | 0.04 | disgenet |
| SHORT syndrome | PIK3CB | disease | C0878684 | GeneticVariation | 0.04 | disgenet |
| SHORT syndrome | PIK3CG | disease | C0878684 | AlteredExpression | 0.04 | disgenet |
| SHORT syndrome | PIK3CD | disease | C0878684 | GeneticVariation | 0.04 | disgenet |
| SHORT syndrome | AKT1 | disease | C0878684 | AlteredExpression | 0.02 | disgenet |
| SHORT syndrome | AKT1 | disease | C0878684 | GeneticVariation | 0.02 | disgenet |
| SHORT syndrome | CRTC2 | disease | C0878684 | GeneticVariation | 0.01 | disgenet |
| SHORT syndrome | BMP4 | disease | C0878684 | Biomarker | 0.01 | disgenet |
| SHORT syndrome | PRKCE | disease | C0878684 | GeneticVariation | 0.01 | disgenet |
| SHORT syndrome | IGF1R | disease | C0878684 | GeneticVariation | 0.01 | disgenet |
| SHORT syndrome | DDR2 | NA | C0878684 | NA | NA | orphanet |
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