Disease Information | ||||||
---|---|---|---|---|---|---|
Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
Disease, Wolman | LIPA | disease | C0043208 | AlteredExpression | 1 | orphanet , disgenet |
Disease, Wolman | LIPA | disease | C0043208 | GeneticVariation | 1 | orphanet , disgenet |
Disease, Wolman | LIPA | disease | C0043208 | GermlineCausalMutation | 1 | orphanet , disgenet |
Disease, Wolman | LIPA | disease | C0043208 | CausalMutation | 1 | orphanet , disgenet |
Disease, Wolman | LIPA | disease | C0043208 | Biomarker | 1 | orphanet , disgenet |
Disease, Wolman | CES1 | disease | C0043208 | GeneticVariation | 0.04 | disgenet |
Disease, Wolman | CES1 | disease | C0043208 | AlteredExpression | 0.04 | disgenet |
Disease, Wolman | CES1 | disease | C0043208 | Biomarker | 0.04 | disgenet |
Disease, Wolman | HLA-L | disease | C0043208 | GeneticVariation | 0.03 | disgenet |
Disease, Wolman | LIPF | disease | C0043208 | GeneticVariation | 0.03 | disgenet |
Disease, Wolman | CHIT1 | disease | C0043208 | AlteredExpression | 0.02 | disgenet |
Disease, Wolman | SOAT2 | disease | C0043208 | Biomarker | 0.02 | disgenet |
Disease, Wolman | XPR1 | disease | C0043208 | AlteredExpression | 0.01 | disgenet |
Disease, Wolman | NHS | disease | C0043208 | GeneticVariation | 0.01 | disgenet |
Disease, Wolman | CCL18 | disease | C0043208 | Biomarker | 0.01 | disgenet |
Disease, Wolman | RAB7A | disease | C0043208 | AlteredExpression | 0.01 | disgenet |
Disease, Wolman | NCAM1 | disease | C0043208 | AlteredExpression | 0.01 | disgenet |
Disease, Wolman | CAT | disease | C0043208 | GeneticVariation | 0.01 | disgenet |
Disease, Wolman | RAB7B | disease | C0043208 | AlteredExpression | 0.01 | disgenet |
Disease, Wolman | CEL | disease | C0043208 | GeneticVariation | 0.01 | disgenet |
Disease, Wolman | GPT | disease | C0043208 | Biomarker | 0.01 | disgenet |
Disease, Wolman | ABCA1 | disease | C0043208 | AlteredExpression | 0.01 | disgenet |
Disease, Wolman | CUL9 | disease | C0043208 | Biomarker | 0.01 | disgenet |
Disease, Wolman | ACVRL1 | disease | C0043208 | AlteredExpression | 0.01 | disgenet |
Disease, Wolman | SLPI | disease | C0043208 | AlteredExpression | 0.01 | disgenet |
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