| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Hypercholesterolemia, Autosomal Recessive | LDLRAP1 | disease | C1863512 | Biomarker | 1 | disgenet |
| Hypercholesterolemia, Autosomal Recessive | LDLRAP1 | disease | C1863512 | AlteredExpression | 1 | disgenet |
| Hypercholesterolemia, Autosomal Recessive | LDLRAP1 | disease | C1863512 | CausalMutation | 1 | disgenet |
| Hypercholesterolemia, Autosomal Recessive | LDLRAP1 | disease | C1863512 | GeneticVariation | 1 | disgenet |
| Hypercholesterolemia, Autosomal Recessive | LDLR | disease | C1863512 | AlteredExpression | 0.1 | disgenet |
| Hypercholesterolemia, Autosomal Recessive | LDLR | disease | C1863512 | Biomarker | 0.1 | disgenet |
| Hypercholesterolemia, Autosomal Recessive | LDLR | disease | C1863512 | GeneticVariation | 0.1 | disgenet |
| Hypercholesterolemia, Autosomal Recessive | PCSK9 | disease | C1863512 | Biomarker | 0.04 | disgenet |
| Hypercholesterolemia, Autosomal Recessive | PCSK9 | disease | C1863512 | GeneticVariation | 0.04 | disgenet |
| Hypercholesterolemia, Autosomal Recessive | ADPRH | disease | C1863512 | GeneticVariation | 0.03 | disgenet |
| Hypercholesterolemia, Autosomal Recessive | ADPRH | disease | C1863512 | Biomarker | 0.03 | disgenet |
| Hypercholesterolemia, Autosomal Recessive | ADPRH | disease | C1863512 | AlteredExpression | 0.03 | disgenet |
| Hypercholesterolemia, Autosomal Recessive | DDHD1 | disease | C1863512 | GeneticVariation | 0.01 | disgenet |
| Hypercholesterolemia, Autosomal Recessive | LMNB1 | disease | C1863512 | Biomarker | 0.01 | disgenet |
| Hypercholesterolemia, Autosomal Recessive | APOB | disease | C1863512 | Biomarker | 0.01 | disgenet |
| Hypercholesterolemia, Autosomal Recessive | KRT25 | disease | C1863512 | GeneticVariation | 0.01 | disgenet |
| Hypercholesterolemia, Autosomal Recessive | PTBP2 | disease | C1863512 | GeneticVariation | 0.01 | disgenet |
| Hypercholesterolemia, Autosomal Recessive | SLCO6A1 | disease | C1863512 | Biomarker | 0.01 | disgenet |
| Hypercholesterolemia, Autosomal Recessive | DSG4 | disease | C1863512 | Biomarker | 0.01 | disgenet |
| Hypercholesterolemia, Autosomal Recessive | LIPH | disease | C1863512 | GeneticVariation | 0.01 | disgenet |
| Hypercholesterolemia, Autosomal Recessive | GSTK1 | disease | C1863512 | Biomarker | 0.01 | disgenet |
| Hypercholesterolemia, Autosomal Recessive | LPAR6 | disease | C1863512 | Biomarker | 0.01 | disgenet |
| Hypercholesterolemia, Autosomal Recessive | AMN | disease | C1863512 | Biomarker | 0.01 | disgenet |
| Hypercholesterolemia, Autosomal Recessive | ADPRS | disease | C1863512 | GeneticVariation | 0.01 | disgenet |
| Hypercholesterolemia, Autosomal Recessive | CLTC | disease | C1863512 | Biomarker | 0.01 | disgenet |
| Hypercholesterolemia, Autosomal Recessive | PTBP1 | disease | C1863512 | GeneticVariation | 0.01 | disgenet |
| Hypercholesterolemia, Autosomal Recessive | DAB2 | disease | C1863512 | Biomarker | 0.01 | disgenet |
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