| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Megalencephaly cutis marmorata telangiectatica congenita | PIK3CA | disease | C1865285 | SomaticCausalMutation | 0.77 | orphanet , disgenet |
| Megalencephaly cutis marmorata telangiectatica congenita | PIK3CA | disease | C1865285 | GeneticVariation | 0.77 | orphanet , disgenet |
| Megalencephaly cutis marmorata telangiectatica congenita | PIK3CA | disease | C1865285 | CausalMutation | 0.77 | orphanet , disgenet |
| Megalencephaly cutis marmorata telangiectatica congenita | PIK3CA | disease | C1865285 | Biomarker | 0.77 | orphanet , disgenet |
| Megalencephaly cutis marmorata telangiectatica congenita | AKT3 | disease | C1865285 | CausalMutation | 0.1 | disgenet |
| Megalencephaly cutis marmorata telangiectatica congenita | PIK3R2 | disease | C1865285 | CausalMutation | 0.1 | disgenet |
| Megalencephaly cutis marmorata telangiectatica congenita | AKT1 | disease | C1865285 | GeneticVariation | 0.02 | disgenet |
| Megalencephaly cutis marmorata telangiectatica congenita | MTOR | disease | C1865285 | GeneticVariation | 0.02 | disgenet |
| Megalencephaly cutis marmorata telangiectatica congenita | MMUT | disease | C1865285 | Biomarker | 0.02 | disgenet |
| Megalencephaly cutis marmorata telangiectatica congenita | RASA1 | disease | C1865285 | GeneticVariation | 0.01 | disgenet |
| Megalencephaly cutis marmorata telangiectatica congenita | MCM10 | disease | C1865285 | Biomarker | 0.01 | disgenet |
| Megalencephaly cutis marmorata telangiectatica congenita | CD274 | disease | C1865285 | AlteredExpression | 0.01 | disgenet |
| Megalencephaly cutis marmorata telangiectatica congenita | NF1 | disease | C1865285 | Biomarker | 0.01 | disgenet |
| Megalencephaly cutis marmorata telangiectatica congenita | CDC45 | disease | C1865285 | Biomarker | 0.01 | disgenet |
| Megalencephaly cutis marmorata telangiectatica congenita | PIK3CG | disease | C1865285 | GeneticVariation | 0.01 | disgenet |
| Megalencephaly cutis marmorata telangiectatica congenita | PIK3CD | disease | C1865285 | GeneticVariation | 0.01 | disgenet |
| Megalencephaly cutis marmorata telangiectatica congenita | PTPN11 | disease | C1865285 | GeneticVariation | 0.01 | disgenet |
| Megalencephaly cutis marmorata telangiectatica congenita | CCR5 | disease | C1865285 | Biomarker | 0.01 | disgenet |
| Megalencephaly cutis marmorata telangiectatica congenita | BRD4 | disease | C1865285 | Biomarker | 0.01 | disgenet |
| Megalencephaly cutis marmorata telangiectatica congenita | SYNGAP1 | disease | C1865285 | GeneticVariation | 0.01 | disgenet |
| Megalencephaly cutis marmorata telangiectatica congenita | PIK3CB | disease | C1865285 | GeneticVariation | 0.01 | disgenet |
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