Disease Information | ||||||
---|---|---|---|---|---|---|
Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
Carnitine Palmitoyltransferase II Deficiency, Infantile | CPT2 | disease | C1833511 | GermlineCausalMutation | 0.71 | disgenet |
Carnitine Palmitoyltransferase II Deficiency, Infantile | CPT2 | disease | C1833511 | GeneticVariation | 0.71 | disgenet |
Carnitine Palmitoyltransferase II Deficiency, Infantile | CPT2 | disease | C1833511 | Biomarker | 0.71 | disgenet |
Carnitine Palmitoyltransferase II Deficiency, Infantile | CPT2 | disease | C1833511 | CausalMutation | 0.71 | disgenet |
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