| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Telangiectasis | ACVRL1 | disease | C0039446 | GeneticVariation | 0.34 | disgenet |
| Telangiectasis | ACVRL1 | disease | C0039446 | Biomarker | 0.34 | disgenet |
| Telangiectasis | SMAD4 | disease | C0039446 | GeneticVariation | 0.11 | disgenet |
| Telangiectasis | SMAD4 | disease | C0039446 | Biomarker | 0.11 | disgenet |
| Telangiectasis | PTEN | disease | C0039446 | Biomarker | 0.1 | disgenet |
| Telangiectasis | PIGL | disease | C0039446 | Biomarker | 0.1 | disgenet |
| Telangiectasis | RECQL4 | disease | C0039446 | Biomarker | 0.1 | disgenet |
| Telangiectasis | XPA | disease | C0039446 | Biomarker | 0.1 | disgenet |
| Telangiectasis | SKI | disease | C0039446 | Biomarker | 0.1 | disgenet |
| Telangiectasis | EPHB4 | disease | C0039446 | Biomarker | 0.1 | disgenet |
| Telangiectasis | RERE | disease | C0039446 | Biomarker | 0.1 | disgenet |
| Telangiectasis | BMPR2 | disease | C0039446 | Biomarker | 0.1 | disgenet |
| Telangiectasis | KCNAB2 | disease | C0039446 | Biomarker | 0.1 | disgenet |
| Telangiectasis | PORCN | disease | C0039446 | Biomarker | 0.1 | disgenet |
| Telangiectasis | PIGY | disease | C0039446 | Biomarker | 0.1 | disgenet |
| Telangiectasis | ERCC6 | disease | C0039446 | Biomarker | 0.1 | disgenet |
| Telangiectasis | UVSSA | disease | C0039446 | Biomarker | 0.1 | disgenet |
| Telangiectasis | GDF2 | disease | C0039446 | Biomarker | 0.1 | disgenet |
| Telangiectasis | GABRD | disease | C0039446 | Biomarker | 0.1 | disgenet |
| Telangiectasis | TALDO1 | disease | C0039446 | Biomarker | 0.1 | disgenet |
| Telangiectasis | ERCC2 | disease | C0039446 | Biomarker | 0.1 | disgenet |
| Telangiectasis | XPC | disease | C0039446 | Biomarker | 0.1 | disgenet |
| Telangiectasis | PIGW | disease | C0039446 | Biomarker | 0.1 | disgenet |
| Telangiectasis | ATR | disease | C0039446 | Biomarker | 0.1 | orphanet , disgenet |
| Telangiectasis | DDB2 | disease | C0039446 | Biomarker | 0.1 | disgenet |
| Telangiectasis | PGAP3 | disease | C0039446 | Biomarker | 0.1 | disgenet |
| Telangiectasis | TREX1 | disease | C0039446 | Biomarker | 0.1 | disgenet |
| Telangiectasis | HFE | disease | C0039446 | Biomarker | 0.1 | disgenet |
| Telangiectasis | BMP2 | disease | C0039446 | Biomarker | 0.1 | disgenet |
| Telangiectasis | RNF213 | disease | C0039446 | Biomarker | 0.1 | disgenet |
| Telangiectasis | PGAP2 | disease | C0039446 | Biomarker | 0.1 | disgenet |
| Telangiectasis | MRE11 | disease | C0039446 | Biomarker | 0.1 | disgenet |
| Telangiectasis | PIGV | disease | C0039446 | Biomarker | 0.1 | disgenet |
| Telangiectasis | DPM1 | disease | C0039446 | Biomarker | 0.1 | disgenet |
| Telangiectasis | ACTA2 | disease | C0039446 | Biomarker | 0.1 | disgenet |
| Telangiectasis | PRDM16 | disease | C0039446 | Biomarker | 0.1 | disgenet |
| Telangiectasis | CCM2 | disease | C0039446 | Biomarker | 0.1 | disgenet |
| Telangiectasis | STING1 | disease | C0039446 | Biomarker | 0.1 | disgenet |
| Telangiectasis | PIGO | disease | C0039446 | Biomarker | 0.1 | disgenet |
| Telangiectasis | POLH | disease | C0039446 | Biomarker | 0.1 | disgenet |
| Telangiectasis | POLD1 | disease | C0039446 | Biomarker | 0.1 | disgenet |
| Telangiectasis | ENG | disease | C0039446 | GeneticVariation | 0.03 | disgenet |
| Telangiectasis | ENG | disease | C0039446 | Biomarker | 0.03 | disgenet |
| Telangiectasis | F8 | disease | C0039446 | AlteredExpression | 0.01 | disgenet |
| Telangiectasis | SOX18 | disease | C0039446 | GeneticVariation | 0.01 | disgenet |
| Telangiectasis | ATM | disease | C0039446 | GeneticVariation | 0.01 | disgenet |
| Telangiectasis | KIT | NA | C0039446 | NA | NA | orphanet |
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