| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Neurodegeneration Due To Cerebral Folate Transport Deficiency | FOLR1 | phenotype | C2751584 | GeneticVariation | 0.79 | orphanet , disgenet |
| Neurodegeneration Due To Cerebral Folate Transport Deficiency | FOLR1 | phenotype | C2751584 | GermlineCausalMutation | 0.79 | orphanet , disgenet |
| Neurodegeneration Due To Cerebral Folate Transport Deficiency | FOLR1 | phenotype | C2751584 | CausalMutation | 0.79 | orphanet , disgenet |
| Neurodegeneration Due To Cerebral Folate Transport Deficiency | FOLR1 | phenotype | C2751584 | Biomarker | 0.79 | orphanet , disgenet |
| Neurodegeneration Due To Cerebral Folate Transport Deficiency | MTFMT | phenotype | C2751584 | CausalMutation | 0.1 | disgenet |
| Neurodegeneration Due To Cerebral Folate Transport Deficiency | FOLR2 | phenotype | C2751584 | Biomarker | 0.04 | disgenet |
| Neurodegeneration Due To Cerebral Folate Transport Deficiency | FOLR2 | phenotype | C2751584 | GeneticVariation | 0.04 | disgenet |
| Neurodegeneration Due To Cerebral Folate Transport Deficiency | SLC46A1 | phenotype | C2751584 | GeneticVariation | 0.02 | disgenet |
| Neurodegeneration Due To Cerebral Folate Transport Deficiency | SLC46A1 | phenotype | C2751584 | Biomarker | 0.02 | disgenet |
| Neurodegeneration Due To Cerebral Folate Transport Deficiency | TNF | phenotype | C2751584 | Biomarker | 0.01 | disgenet |
| Neurodegeneration Due To Cerebral Folate Transport Deficiency | LAMC2 | phenotype | C2751584 | AlteredExpression | 0.01 | disgenet |
| Neurodegeneration Due To Cerebral Folate Transport Deficiency | DHFR | phenotype | C2751584 | GeneticVariation | 0.01 | disgenet |
| Neurodegeneration Due To Cerebral Folate Transport Deficiency | CSF2 | phenotype | C2751584 | AlteredExpression | 0.01 | disgenet |
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