| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Piebaldism | KIT | disease | C0080024 | Biomarker | 1 | orphanet , disgenet |
| Piebaldism | KIT | disease | C0080024 | CausalMutation | 1 | orphanet , disgenet |
| Piebaldism | KIT | disease | C0080024 | GeneticVariation | 1 | orphanet , disgenet |
| Piebaldism | KIT | disease | C0080024 | GermlineCausalMutation | 1 | orphanet , disgenet |
| Piebaldism | KIT | disease | C0080024 | AlteredExpression | 1 | orphanet , disgenet |
| Piebaldism | SNAI2 | disease | C0080024 | GermlineCausalMutation | 0.73 | orphanet , disgenet |
| Piebaldism | SNAI2 | disease | C0080024 | GeneticVariation | 0.73 | orphanet , disgenet |
| Piebaldism | SNAI2 | disease | C0080024 | Biomarker | 0.73 | orphanet , disgenet |
| Piebaldism | PAX3 | disease | C0080024 | GeneticVariation | 0.12 | disgenet |
| Piebaldism | PAX3 | disease | C0080024 | Biomarker | 0.12 | disgenet |
| Piebaldism | MYO5A | disease | C0080024 | Biomarker | 0.1 | disgenet |
| Piebaldism | RAB27A | disease | C0080024 | Biomarker | 0.1 | disgenet |
| Piebaldism | LAMTOR2 | disease | C0080024 | Biomarker | 0.1 | disgenet |
| Piebaldism | MLPH | disease | C0080024 | Biomarker | 0.1 | disgenet |
| Piebaldism | TYRP1 | disease | C0080024 | Biomarker | 0.1 | disgenet |
| Piebaldism | MITF | disease | C0080024 | Biomarker | 0.1 | disgenet |
| Piebaldism | CLEC11A | disease | C0080024 | Biomarker | 0.05 | disgenet |
| Piebaldism | SPRED1 | disease | C0080024 | GeneticVariation | 0.02 | disgenet |
| Piebaldism | SPRED1 | disease | C0080024 | Biomarker | 0.02 | disgenet |
| Piebaldism | GABPA | disease | C0080024 | Biomarker | 0.02 | disgenet |
| Piebaldism | NFE2L2 | disease | C0080024 | AlteredExpression | 0.02 | disgenet |
| Piebaldism | MC1R | disease | C0080024 | Biomarker | 0.02 | disgenet |
| Piebaldism | GABPA | disease | C0080024 | AlteredExpression | 0.02 | disgenet |
| Piebaldism | MC1R | disease | C0080024 | GeneticVariation | 0.02 | disgenet |
| Piebaldism | NFE2L2 | disease | C0080024 | Biomarker | 0.02 | disgenet |
| Piebaldism | KITLG | disease | C0080024 | GeneticVariation | 0.01 | disgenet |
| Piebaldism | CDKN2B-AS1 | disease | C0080024 | GeneticVariation | 0.01 | disgenet |
| Piebaldism | TERT | disease | C0080024 | Biomarker | 0.01 | disgenet |
| Piebaldism | OCA2 | disease | C0080024 | GeneticVariation | 0.01 | disgenet |
| Piebaldism | PTX3 | disease | C0080024 | Biomarker | 0.01 | disgenet |
| Piebaldism | CALR | disease | C0080024 | AlteredExpression | 0.01 | disgenet |
| Piebaldism | RTEL1 | disease | C0080024 | Biomarker | 0.01 | disgenet |
| Piebaldism | ASS1 | disease | C0080024 | GeneticVariation | 0.01 | disgenet |
| Piebaldism | FOXO1 | disease | C0080024 | Biomarker | 0.01 | disgenet |
| Piebaldism | SNAI1 | disease | C0080024 | GeneticVariation | 0.01 | disgenet |
| Piebaldism | CCDC26 | disease | C0080024 | Biomarker | 0.01 | disgenet |
| Piebaldism | ABO | disease | C0080024 | GeneticVariation | 0.01 | disgenet |
| Piebaldism | CALCR | disease | C0080024 | AlteredExpression | 0.01 | disgenet |
| Piebaldism | RET | disease | C0080024 | GeneticVariation | 0.01 | disgenet |
| Piebaldism | LYST | disease | C0080024 | Biomarker | 0.01 | disgenet |
| Piebaldism | SLC6A8 | disease | C0080024 | AlteredExpression | 0.01 | disgenet |
| Piebaldism | TYR | disease | C0080024 | Biomarker | 0.01 | disgenet |
| Piebaldism | PDGFRA | disease | C0080024 | GeneticVariation | 0.01 | disgenet |
| Piebaldism | UCN | disease | C0080024 | Biomarker | 0.01 | disgenet |
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