| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Cafe au Lait Spots | PMS2 | phenotype | C0221263 | Biomarker | 0.4 | disgenet |
| Cafe au Lait Spots | SPRED1 | phenotype | C0221263 | Biomarker | 0.4 | disgenet |
| Cafe au Lait Spots | GNAS | phenotype | C0221263 | Biomarker | 0.3 | disgenet |
| Cafe au Lait Spots | PTPN11 | phenotype | C0221263 | GeneticVariation | 0.11 | disgenet |
| Cafe au Lait Spots | PTPN11 | phenotype | C0221263 | Biomarker | 0.11 | disgenet |
| Cafe au Lait Spots | MSH2 | phenotype | C0221263 | GeneticVariation | 0.11 | disgenet |
| Cafe au Lait Spots | NF1 | phenotype | C0221263 | CausalMutation | 0.11 | disgenet |
| Cafe au Lait Spots | MSH2 | phenotype | C0221263 | Biomarker | 0.11 | disgenet |
| Cafe au Lait Spots | NF1 | phenotype | C0221263 | Biomarker | 0.11 | disgenet |
| Cafe au Lait Spots | NF1 | phenotype | C0221263 | GeneticVariation | 0.11 | disgenet |
| Cafe au Lait Spots | PTPN11 | phenotype | C0221263 | CausalMutation | 0.11 | disgenet |
| Cafe au Lait Spots | IGF1 | phenotype | C0221263 | Biomarker | 0.1 | disgenet |
| Cafe au Lait Spots | UBR1 | phenotype | C0221263 | Biomarker | 0.1 | disgenet |
| Cafe au Lait Spots | PALB2 | phenotype | C0221263 | Biomarker | 0.1 | disgenet |
| Cafe au Lait Spots | BRCA2 | phenotype | C0221263 | Biomarker | 0.1 | disgenet |
| Cafe au Lait Spots | KITLG | phenotype | C0221263 | Biomarker | 0.1 | disgenet |
| Cafe au Lait Spots | BLM | phenotype | C0221263 | Biomarker | 0.1 | disgenet |
| Cafe au Lait Spots | MAX | phenotype | C0221263 | Biomarker | 0.1 | disgenet |
| Cafe au Lait Spots | SOX10 | phenotype | C0221263 | Biomarker | 0.1 | disgenet |
| Cafe au Lait Spots | SIN3A | phenotype | C0221263 | Biomarker | 0.1 | disgenet |
| Cafe au Lait Spots | EHMT1 | phenotype | C0221263 | GeneticVariation | 0.1 | disgenet |
| Cafe au Lait Spots | IRAK1BP1 | phenotype | C0221263 | CausalMutation | 0.1 | disgenet |
| Cafe au Lait Spots | VHL | phenotype | C0221263 | Biomarker | 0.1 | disgenet |
| Cafe au Lait Spots | FANCD2 | phenotype | C0221263 | Biomarker | 0.1 | disgenet |
| Cafe au Lait Spots | TMEM127 | phenotype | C0221263 | Biomarker | 0.1 | disgenet |
| Cafe au Lait Spots | PHIP | phenotype | C0221263 | Biomarker | 0.1 | disgenet |
| Cafe au Lait Spots | SKIV2L | phenotype | C0221263 | Biomarker | 0.1 | disgenet |
| Cafe au Lait Spots | RAD51 | phenotype | C0221263 | GeneticVariation | 0.1 | disgenet |
| Cafe au Lait Spots | IFNG | phenotype | C0221263 | Biomarker | 0.1 | disgenet |
| Cafe au Lait Spots | BPTF | phenotype | C0221263 | CausalMutation | 0.1 | disgenet |
| Cafe au Lait Spots | BRAF | phenotype | C0221263 | CausalMutation | 0.1 | disgenet |
| Cafe au Lait Spots | FANCC | phenotype | C0221263 | Biomarker | 0.1 | disgenet |
| Cafe au Lait Spots | SLX4 | phenotype | C0221263 | Biomarker | 0.1 | disgenet |
| Cafe au Lait Spots | ATP5F1D | phenotype | C0221263 | CausalMutation | 0.1 | disgenet |
| Cafe au Lait Spots | ATP1A3 | phenotype | C0221263 | CausalMutation | 0.1 | disgenet |
| Cafe au Lait Spots | MED12 | phenotype | C0221263 | Biomarker | 0.1 | disgenet |
| Cafe au Lait Spots | PHIP | phenotype | C0221263 | CausalMutation | 0.1 | disgenet |
| Cafe au Lait Spots | IGF2 | phenotype | C0221263 | Biomarker | 0.1 | disgenet |
| Cafe au Lait Spots | KIF1B | phenotype | C0221263 | Biomarker | 0.1 | disgenet |
| Cafe au Lait Spots | FANCA | phenotype | C0221263 | Biomarker | 0.1 | disgenet |
| Cafe au Lait Spots | PHIP | phenotype | C0221263 | GeneticVariation | 0.1 | disgenet |
| Cafe au Lait Spots | SDHB | phenotype | C0221263 | Biomarker | 0.1 | disgenet |
| Cafe au Lait Spots | KDM6A | phenotype | C0221263 | Biomarker | 0.1 | disgenet |
| Cafe au Lait Spots | MSH6 | phenotype | C0221263 | Biomarker | 0.1 | disgenet |
| Cafe au Lait Spots | RAF1 | phenotype | C0221263 | Biomarker | 0.1 | disgenet |
| Cafe au Lait Spots | PCNT | phenotype | C0221263 | Biomarker | 0.1 | disgenet |
| Cafe au Lait Spots | PURA | phenotype | C0221263 | GeneticVariation | 0.1 | disgenet |
| Cafe au Lait Spots | FANCE | phenotype | C0221263 | Biomarker | 0.1 | disgenet |
| Cafe au Lait Spots | MEN1 | phenotype | C0221263 | Biomarker | 0.1 | disgenet |
| Cafe au Lait Spots | APC | phenotype | C0221263 | Biomarker | 0.1 | disgenet |
| Cafe au Lait Spots | CREBBP | phenotype | C0221263 | Biomarker | 0.1 | disgenet |
| Cafe au Lait Spots | MTOR | phenotype | C0221263 | Biomarker | 0.1 | disgenet |
| Cafe au Lait Spots | PRKAR1A | phenotype | C0221263 | Biomarker | 0.1 | disgenet |
| Cafe au Lait Spots | KMT2D | phenotype | C0221263 | Biomarker | 0.1 | disgenet |
| Cafe au Lait Spots | ASXL3 | phenotype | C0221263 | CausalMutation | 0.1 | disgenet |
| Cafe au Lait Spots | TSC2 | phenotype | C0221263 | Biomarker | 0.1 | disgenet |
| Cafe au Lait Spots | NRAS | phenotype | C0221263 | Biomarker | 0.1 | disgenet |
| Cafe au Lait Spots | PPP1CB | phenotype | C0221263 | Biomarker | 0.1 | disgenet |
| Cafe au Lait Spots | KIT | phenotype | C0221263 | GeneticVariation | 0.1 | disgenet |
| Cafe au Lait Spots | TSC1 | phenotype | C0221263 | Biomarker | 0.1 | disgenet |
| Cafe au Lait Spots | COL6A1 | phenotype | C0221263 | CausalMutation | 0.1 | disgenet |
| Cafe au Lait Spots | ATM | phenotype | C0221263 | Biomarker | 0.1 | disgenet |
| Cafe au Lait Spots | CBL | phenotype | C0221263 | Biomarker | 0.1 | disgenet |
| Cafe au Lait Spots | RET | phenotype | C0221263 | Biomarker | 0.1 | disgenet |
| Cafe au Lait Spots | ESCO2 | phenotype | C0221263 | Biomarker | 0.1 | disgenet |
| Cafe au Lait Spots | MLH1 | phenotype | C0221263 | Biomarker | 0.1 | disgenet |
| Cafe au Lait Spots | NBN | phenotype | C0221263 | Biomarker | 0.1 | disgenet |
| Cafe au Lait Spots | RHOBTB2 | phenotype | C0221263 | GeneticVariation | 0.1 | disgenet |
| Cafe au Lait Spots | H19 | phenotype | C0221263 | Biomarker | 0.1 | disgenet |
| Cafe au Lait Spots | DYRK1A | phenotype | C0221263 | CausalMutation | 0.1 | disgenet |
| Cafe au Lait Spots | GDNF | phenotype | C0221263 | Biomarker | 0.1 | disgenet |
| Cafe au Lait Spots | TOP3A | phenotype | C0221263 | Biomarker | 0.1 | disgenet |
| Cafe au Lait Spots | EP300 | phenotype | C0221263 | Biomarker | 0.1 | disgenet |
| Cafe au Lait Spots | KRAS | phenotype | C0221263 | CausalMutation | 0.1 | disgenet |
| Cafe au Lait Spots | FANCL | phenotype | C0221263 | Biomarker | 0.1 | disgenet |
| Cafe au Lait Spots | STEAP3 | phenotype | C0221263 | Biomarker | 0.1 | disgenet |
| Cafe au Lait Spots | KDM6B | phenotype | C0221263 | Biomarker | 0.1 | disgenet |
| Cafe au Lait Spots | SOS1 | phenotype | C0221263 | CausalMutation | 0.1 | disgenet |
| Cafe au Lait Spots | TTC37 | phenotype | C0221263 | Biomarker | 0.1 | disgenet |
| Cafe au Lait Spots | FANCI | phenotype | C0221263 | Biomarker | 0.1 | disgenet |
| Cafe au Lait Spots | SDHD | phenotype | C0221263 | Biomarker | 0.1 | disgenet |
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