| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Borjeson-Forssman-Lehmann syndrome | PHF6 | disease | C0265339 | GeneticVariation | 1 | orphanet , disgenet |
| Borjeson-Forssman-Lehmann syndrome | PHF6 | disease | C0265339 | Biomarker | 1 | orphanet , disgenet |
| Borjeson-Forssman-Lehmann syndrome | PHF6 | disease | C0265339 | CausalMutation | 1 | orphanet , disgenet |
| Borjeson-Forssman-Lehmann syndrome | PHF6 | disease | C0265339 | GermlineCausalMutation | 1 | orphanet , disgenet |
| Borjeson-Forssman-Lehmann syndrome | PHF6 | disease | C0265339 | AlteredExpression | 1 | orphanet , disgenet |
| Borjeson-Forssman-Lehmann syndrome | ABCG2 | disease | C0265339 | Biomarker | 0.01 | disgenet |
| Borjeson-Forssman-Lehmann syndrome | DLG3 | disease | C0265339 | Biomarker | 0.01 | disgenet |
| Borjeson-Forssman-Lehmann syndrome | FGF13 | disease | C0265339 | AlteredExpression | 0.01 | disgenet |
| Borjeson-Forssman-Lehmann syndrome | RASGRF1 | disease | C0265339 | Biomarker | 0.01 | disgenet |
| Borjeson-Forssman-Lehmann syndrome | SOS1 | disease | C0265339 | Biomarker | 0.01 | disgenet |
| Borjeson-Forssman-Lehmann syndrome | HPRT1 | disease | C0265339 | Biomarker | 0.01 | disgenet |
| Borjeson-Forssman-Lehmann syndrome | ARHGEF6 | disease | C0265339 | Biomarker | 0.01 | disgenet |
| Borjeson-Forssman-Lehmann syndrome | PAK3 | disease | C0265339 | Biomarker | 0.01 | disgenet |
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