| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Neuronal intranuclear inclusion disease | NOTCH2NLC | disease | C1863843 | GermlineCausalMutation | 0.53 | orphanet , disgenet |
| Neuronal intranuclear inclusion disease | NOTCH2NLC | disease | C1863843 | GeneticVariation | 0.53 | orphanet , disgenet |
| Neuronal intranuclear inclusion disease | NOTCH2NLC | disease | C1863843 | Biomarker | 0.53 | orphanet , disgenet |
| Neuronal intranuclear inclusion disease | SUMO1 | disease | C1863843 | Biomarker | 0.02 | disgenet |
| Neuronal intranuclear inclusion disease | GGCT | disease | C1863843 | Biomarker | 0.02 | disgenet |
| Neuronal intranuclear inclusion disease | GGCT | disease | C1863843 | GeneticVariation | 0.02 | disgenet |
| Neuronal intranuclear inclusion disease | NUP62 | disease | C1863843 | Biomarker | 0.01 | disgenet |
| Neuronal intranuclear inclusion disease | KHDRBS1 | disease | C1863843 | Biomarker | 0.01 | disgenet |
| Neuronal intranuclear inclusion disease | SQSTM1 | disease | C1863843 | Biomarker | 0.01 | disgenet |
| Neuronal intranuclear inclusion disease | DCTN4 | disease | C1863843 | Biomarker | 0.01 | disgenet |
| Neuronal intranuclear inclusion disease | GTF2H1 | disease | C1863843 | Biomarker | 0.01 | disgenet |
| Neuronal intranuclear inclusion disease | ATXN1 | disease | C1863843 | Biomarker | 0.01 | disgenet |
| Neuronal intranuclear inclusion disease | FMR1 | disease | C1863843 | Biomarker | 0.01 | disgenet |
| Neuronal intranuclear inclusion disease | ATXN3 | disease | C1863843 | Biomarker | 0.01 | disgenet |
| Neuronal intranuclear inclusion disease | NBPF19 | disease | C1863843 | GeneticVariation | 0.01 | disgenet |
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