| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Homocystinuria | CBS | disease | C0019880 | CausalMutation | 0.9 | orphanet , disgenet |
| Homocystinuria | CBS | disease | C0019880 | GeneticVariation | 0.9 | orphanet , disgenet |
| Homocystinuria | CBS | disease | C0019880 | AlteredExpression | 0.9 | orphanet , disgenet |
| Homocystinuria | CBS | disease | C0019880 | Biomarker | 0.9 | orphanet , disgenet |
| Homocystinuria | MTRR | disease | C0019880 | GeneticVariation | 0.46 | disgenet |
| Homocystinuria | MTRR | disease | C0019880 | Biomarker | 0.46 | disgenet |
| Homocystinuria | CBSL | disease | C0019880 | AlteredExpression | 0.3 | disgenet |
| Homocystinuria | CBSL | disease | C0019880 | GeneticVariation | 0.3 | disgenet |
| Homocystinuria | CBSL | disease | C0019880 | Biomarker | 0.3 | disgenet |
| Homocystinuria | MTHFR | disease | C0019880 | GeneticVariation | 0.17 | orphanet , disgenet |
| Homocystinuria | MTHFR | disease | C0019880 | Biomarker | 0.17 | orphanet , disgenet |
| Homocystinuria | MMACHC | disease | C0019880 | GeneticVariation | 0.13 | disgenet |
| Homocystinuria | MTR | disease | C0019880 | GeneticVariation | 0.13 | disgenet |
| Homocystinuria | MMACHC | disease | C0019880 | Biomarker | 0.13 | disgenet |
| Homocystinuria | MTR | disease | C0019880 | Biomarker | 0.13 | disgenet |
| Homocystinuria | MTR | disease | C0019880 | AlteredExpression | 0.13 | disgenet |
| Homocystinuria | MMADHC | disease | C0019880 | Biomarker | 0.12 | disgenet |
| Homocystinuria | MMADHC | disease | C0019880 | GeneticVariation | 0.12 | disgenet |
| Homocystinuria | PRDX1 | disease | C0019880 | Biomarker | 0.1 | disgenet |
| Homocystinuria | ABCD4 | disease | C0019880 | Biomarker | 0.1 | disgenet |
| Homocystinuria | LMBRD1 | disease | C0019880 | Biomarker | 0.1 | disgenet |
| Homocystinuria | F5 | disease | C0019880 | GeneticVariation | 0.04 | disgenet |
| Homocystinuria | F5 | disease | C0019880 | Biomarker | 0.04 | disgenet |
| Homocystinuria | SERPINC1 | disease | C0019880 | Biomarker | 0.02 | disgenet |
| Homocystinuria | FBN1 | disease | C0019880 | AlteredExpression | 0.02 | disgenet |
| Homocystinuria | SERPINC1 | disease | C0019880 | AlteredExpression | 0.02 | disgenet |
| Homocystinuria | FBN1 | disease | C0019880 | Biomarker | 0.02 | disgenet |
| Homocystinuria | PAEP | disease | C0019880 | Biomarker | 0.01 | disgenet |
| Homocystinuria | GOT2 | disease | C0019880 | Biomarker | 0.01 | disgenet |
| Homocystinuria | MMUT | disease | C0019880 | Biomarker | 0.01 | disgenet |
| Homocystinuria | BCHE | disease | C0019880 | Biomarker | 0.01 | disgenet |
| Homocystinuria | SCD | disease | C0019880 | GeneticVariation | 0.01 | disgenet |
| Homocystinuria | SERPIND1 | disease | C0019880 | Biomarker | 0.01 | disgenet |
| Homocystinuria | ALDH7A1 | disease | C0019880 | Biomarker | 0.01 | disgenet |
| Homocystinuria | LOX | disease | C0019880 | AlteredExpression | 0.01 | disgenet |
| Homocystinuria | PGR-AS1 | disease | C0019880 | AlteredExpression | 0.01 | disgenet |
| Homocystinuria | ATXN3 | disease | C0019880 | AlteredExpression | 0.01 | disgenet |
| Homocystinuria | PLG | disease | C0019880 | Biomarker | 0.01 | disgenet |
| Homocystinuria | PROC | disease | C0019880 | Biomarker | 0.01 | disgenet |
| Homocystinuria | AAVS1 | disease | C0019880 | Biomarker | 0.01 | disgenet |
| Homocystinuria | TYR | disease | C0019880 | Biomarker | 0.01 | disgenet |
| Homocystinuria | LEP | disease | C0019880 | Biomarker | 0.01 | disgenet |
| Homocystinuria | MAT1A | disease | C0019880 | Biomarker | 0.01 | disgenet |
| Homocystinuria | VWF | disease | C0019880 | Biomarker | 0.01 | disgenet |
| Homocystinuria | THBD | disease | C0019880 | Biomarker | 0.01 | disgenet |
| Homocystinuria | TFPI | disease | C0019880 | AlteredExpression | 0.01 | disgenet |
| Homocystinuria | DDC | disease | C0019880 | Biomarker | 0.01 | disgenet |
| Homocystinuria | TH | disease | C0019880 | Biomarker | 0.01 | disgenet |
| Homocystinuria | HRG | disease | C0019880 | Biomarker | 0.01 | disgenet |
| Homocystinuria | F3 | disease | C0019880 | Biomarker | 0.01 | disgenet |
| Homocystinuria | F8 | disease | C0019880 | AlteredExpression | 0.01 | disgenet |
| Homocystinuria | PEMT | disease | C0019880 | Biomarker | 0.01 | disgenet |
| Homocystinuria | GOT1 | disease | C0019880 | AlteredExpression | 0.01 | disgenet |
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