| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Neuroacanthocytosis | VPS13A | disease | C0393576 | CausalMutation | 1 | orphanet , disgenet |
| Neuroacanthocytosis | VPS13A | disease | C0393576 | GeneticVariation | 1 | orphanet , disgenet |
| Neuroacanthocytosis | VPS13A | disease | C0393576 | Biomarker | 1 | orphanet , disgenet |
| Neuroacanthocytosis | XK | disease | C0393576 | Biomarker | 0.3 | orphanet , disgenet |
| Neuroacanthocytosis | JPH3 | disease | C0393576 | Biomarker | 0.03 | disgenet |
| Neuroacanthocytosis | JPH3 | disease | C0393576 | GeneticVariation | 0.03 | disgenet |
| Neuroacanthocytosis | PANK2 | disease | C0393576 | GeneticVariation | 0.03 | disgenet |
| Neuroacanthocytosis | PANK2 | disease | C0393576 | Biomarker | 0.03 | disgenet |
| Neuroacanthocytosis | ORAI1 | disease | C0393576 | AlteredExpression | 0.03 | disgenet |
| Neuroacanthocytosis | STIM1 | disease | C0393576 | AlteredExpression | 0.02 | disgenet |
| Neuroacanthocytosis | ACTB | disease | C0393576 | GeneticVariation | 0.02 | disgenet |
| Neuroacanthocytosis | ACTB | disease | C0393576 | Biomarker | 0.02 | disgenet |
| Neuroacanthocytosis | ATXN7 | disease | C0393576 | Biomarker | 0.01 | disgenet |
| Neuroacanthocytosis | SELP | disease | C0393576 | Biomarker | 0.01 | disgenet |
| Neuroacanthocytosis | ATXN3 | disease | C0393576 | Biomarker | 0.01 | disgenet |
| Neuroacanthocytosis | TBP | disease | C0393576 | Biomarker | 0.01 | disgenet |
| Neuroacanthocytosis | VAMP8 | disease | C0393576 | AlteredExpression | 0.01 | disgenet |
| Neuroacanthocytosis | KCNA1 | disease | C0393576 | GeneticVariation | 0.01 | disgenet |
| Neuroacanthocytosis | SLC6A2 | disease | C0393576 | Biomarker | 0.01 | disgenet |
| Neuroacanthocytosis | ELK3 | disease | C0393576 | Biomarker | 0.01 | disgenet |
| Neuroacanthocytosis | TRAP | disease | C0393576 | Biomarker | 0.01 | disgenet |
| Neuroacanthocytosis | GCH1 | disease | C0393576 | Biomarker | 0.01 | disgenet |
| Neuroacanthocytosis | KCNA5 | disease | C0393576 | GeneticVariation | 0.01 | disgenet |
| Neuroacanthocytosis | EPHB1 | disease | C0393576 | Biomarker | 0.01 | disgenet |
| Neuroacanthocytosis | CACNA1A | disease | C0393576 | GeneticVariation | 0.01 | disgenet |
| Neuroacanthocytosis | PIK3CA | disease | C0393576 | PosttranslationalModification | 0.01 | disgenet |
| Neuroacanthocytosis | PIK3CD | disease | C0393576 | PosttranslationalModification | 0.01 | disgenet |
| Neuroacanthocytosis | PIK3CG | disease | C0393576 | PosttranslationalModification | 0.01 | disgenet |
| Neuroacanthocytosis | ESR1 | disease | C0393576 | Biomarker | 0.01 | disgenet |
| Neuroacanthocytosis | KCNA6 | disease | C0393576 | GeneticVariation | 0.01 | disgenet |
| Neuroacanthocytosis | CRP | disease | C0393576 | Biomarker | 0.01 | disgenet |
| Neuroacanthocytosis | ERAL1 | disease | C0393576 | Biomarker | 0.01 | disgenet |
| Neuroacanthocytosis | TAC1 | disease | C0393576 | Biomarker | 0.01 | disgenet |
| Neuroacanthocytosis | PIK3CB | disease | C0393576 | PosttranslationalModification | 0.01 | disgenet |
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