| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Hepatolenticular Degeneration | ATP7B | disease | C0019202 | GermlineCausalMutation | 1 | orphanet , disgenet |
| Hepatolenticular Degeneration | ATP7B | disease | C0019202 | CausalMutation | 1 | orphanet , disgenet |
| Hepatolenticular Degeneration | ATP7B | disease | C0019202 | GeneticVariation | 1 | orphanet , disgenet |
| Hepatolenticular Degeneration | ATP7B | disease | C0019202 | Biomarker | 1 | orphanet , disgenet |
| Hepatolenticular Degeneration | ATP7B | disease | C0019202 | AlteredExpression | 1 | orphanet , disgenet |
| Hepatolenticular Degeneration | ANXA5 | disease | C0019202 | Biomarker | 0.5 | disgenet |
| Hepatolenticular Degeneration | CP | disease | C0019202 | GeneticVariation | 0.4 | disgenet |
| Hepatolenticular Degeneration | CP | disease | C0019202 | AlteredExpression | 0.4 | disgenet |
| Hepatolenticular Degeneration | CP | disease | C0019202 | Biomarker | 0.4 | disgenet |
| Hepatolenticular Degeneration | APOE | disease | C0019202 | GeneticVariation | 0.36 | disgenet |
| Hepatolenticular Degeneration | APOE | disease | C0019202 | Biomarker | 0.36 | disgenet |
| Hepatolenticular Degeneration | PRNP | disease | C0019202 | GeneticVariation | 0.33 | disgenet |
| Hepatolenticular Degeneration | PRNP | disease | C0019202 | Biomarker | 0.33 | disgenet |
| Hepatolenticular Degeneration | TNF | disease | C0019202 | GeneticVariation | 0.32 | disgenet |
| Hepatolenticular Degeneration | LOX | disease | C0019202 | AlteredExpression | 0.32 | disgenet |
| Hepatolenticular Degeneration | LOX | disease | C0019202 | Biomarker | 0.32 | disgenet |
| Hepatolenticular Degeneration | AHCY | disease | C0019202 | Biomarker | 0.32 | disgenet |
| Hepatolenticular Degeneration | IL6 | disease | C0019202 | Biomarker | 0.32 | disgenet |
| Hepatolenticular Degeneration | TNF | disease | C0019202 | Biomarker | 0.32 | disgenet |
| Hepatolenticular Degeneration | AHCY | disease | C0019202 | GeneticVariation | 0.32 | disgenet |
| Hepatolenticular Degeneration | IL6 | disease | C0019202 | GeneticVariation | 0.32 | disgenet |
| Hepatolenticular Degeneration | AHCY | disease | C0019202 | AlteredExpression | 0.32 | disgenet |
| Hepatolenticular Degeneration | IL10 | disease | C0019202 | GeneticVariation | 0.31 | disgenet |
| Hepatolenticular Degeneration | IL10 | disease | C0019202 | Biomarker | 0.31 | disgenet |
| Hepatolenticular Degeneration | LOXL2 | disease | C0019202 | AlteredExpression | 0.31 | disgenet |
| Hepatolenticular Degeneration | LOXL2 | disease | C0019202 | Biomarker | 0.31 | disgenet |
| Hepatolenticular Degeneration | SDHAF2 | disease | C0019202 | Biomarker | 0.3 | disgenet |
| Hepatolenticular Degeneration | CXCL8 | disease | C0019202 | Biomarker | 0.3 | disgenet |
| Hepatolenticular Degeneration | BHMT | disease | C0019202 | Biomarker | 0.3 | disgenet |
| Hepatolenticular Degeneration | CAMK2A | disease | C0019202 | Biomarker | 0.3 | disgenet |
| Hepatolenticular Degeneration | PPP3CB | disease | C0019202 | Biomarker | 0.3 | disgenet |
| Hepatolenticular Degeneration | SNCA | disease | C0019202 | Biomarker | 0.3 | disgenet |
| Hepatolenticular Degeneration | A2M | disease | C0019202 | Biomarker | 0.3 | disgenet |
| Hepatolenticular Degeneration | HAMP | disease | C0019202 | Biomarker | 0.3 | disgenet |
| Hepatolenticular Degeneration | PPP3CA | disease | C0019202 | Biomarker | 0.3 | disgenet |
| Hepatolenticular Degeneration | TIMP1 | disease | C0019202 | Biomarker | 0.3 | disgenet |
| Hepatolenticular Degeneration | ASMT | disease | C0019202 | Biomarker | 0.3 | disgenet |
| Hepatolenticular Degeneration | ANKS1B | disease | C0019202 | Biomarker | 0.3 | disgenet |
| Hepatolenticular Degeneration | NDUFB7 | disease | C0019202 | Biomarker | 0.3 | disgenet |
| Hepatolenticular Degeneration | ATP7A | disease | C0019202 | Biomarker | 0.29 | disgenet |
| Hepatolenticular Degeneration | ATP7A | disease | C0019202 | GeneticVariation | 0.29 | disgenet |
| Hepatolenticular Degeneration | HMGCR | disease | C0019202 | Biomarker | 0.2 | disgenet |
| Hepatolenticular Degeneration | CYP27B1 | disease | C0019202 | Biomarker | 0.2 | disgenet |
| Hepatolenticular Degeneration | SMPD1 | disease | C0019202 | ModifyingMutation | 0.2 | disgenet |
| Hepatolenticular Degeneration | ATOX1 | disease | C0019202 | GeneticVariation | 0.1 | disgenet |
| Hepatolenticular Degeneration | ATOX1 | disease | C0019202 | Biomarker | 0.1 | disgenet |
| Hepatolenticular Degeneration | ESD | disease | C0019202 | GeneticVariation | 0.1 | disgenet |
| Hepatolenticular Degeneration | ESD | disease | C0019202 | Biomarker | 0.1 | disgenet |
| Hepatolenticular Degeneration | COMMD1 | disease | C0019202 | GeneticVariation | 0.09 | disgenet |
| Hepatolenticular Degeneration | COMMD1 | disease | C0019202 | Biomarker | 0.09 | disgenet |
| Hepatolenticular Degeneration | HFE | disease | C0019202 | GeneticVariation | 0.07 | disgenet |
| Hepatolenticular Degeneration | HFE | disease | C0019202 | Biomarker | 0.07 | disgenet |
| Hepatolenticular Degeneration | SLC31A1 | disease | C0019202 | Biomarker | 0.03 | disgenet |
| Hepatolenticular Degeneration | SLC31A1 | disease | C0019202 | AlteredExpression | 0.03 | disgenet |
| Hepatolenticular Degeneration | SLC31A1 | disease | C0019202 | GeneticVariation | 0.03 | disgenet |
| Hepatolenticular Degeneration | TP53 | disease | C0019202 | GeneticVariation | 0.03 | disgenet |
| Hepatolenticular Degeneration | GPT | disease | C0019202 | Biomarker | 0.03 | disgenet |
| Hepatolenticular Degeneration | ALB | disease | C0019202 | AlteredExpression | 0.03 | disgenet |
| Hepatolenticular Degeneration | MBD6 | disease | C0019202 | Biomarker | 0.03 | disgenet |
| Hepatolenticular Degeneration | MBD6 | disease | C0019202 | GeneticVariation | 0.03 | disgenet |
| Hepatolenticular Degeneration | GPT | disease | C0019202 | GeneticVariation | 0.03 | disgenet |
| Hepatolenticular Degeneration | ALB | disease | C0019202 | Biomarker | 0.03 | disgenet |
| Hepatolenticular Degeneration | IL1B | disease | C0019202 | Biomarker | 0.02 | disgenet |
| Hepatolenticular Degeneration | SERPINA1 | disease | C0019202 | GeneticVariation | 0.02 | disgenet |
| Hepatolenticular Degeneration | AFM | disease | C0019202 | Biomarker | 0.02 | disgenet |
| Hepatolenticular Degeneration | GCH1 | disease | C0019202 | GeneticVariation | 0.02 | disgenet |
| Hepatolenticular Degeneration | GCH1 | disease | C0019202 | Biomarker | 0.02 | disgenet |
| Hepatolenticular Degeneration | BDNF | disease | C0019202 | Biomarker | 0.02 | disgenet |
| Hepatolenticular Degeneration | ARSA | disease | C0019202 | GeneticVariation | 0.02 | disgenet |
| Hepatolenticular Degeneration | STON1-GTF2A1L | disease | C0019202 | Biomarker | 0.02 | disgenet |
| Hepatolenticular Degeneration | BDNF | disease | C0019202 | GeneticVariation | 0.02 | disgenet |
| Hepatolenticular Degeneration | IL1B | disease | C0019202 | GeneticVariation | 0.02 | disgenet |
| Hepatolenticular Degeneration | MBD1 | disease | C0019202 | GeneticVariation | 0.02 | disgenet |
| Hepatolenticular Degeneration | MBD1 | disease | C0019202 | Biomarker | 0.02 | disgenet |
| Hepatolenticular Degeneration | GTF2A1L | disease | C0019202 | Biomarker | 0.02 | disgenet |
| Hepatolenticular Degeneration | G6PD | disease | C0019202 | Biomarker | 0.02 | disgenet |
| Hepatolenticular Degeneration | FXN | disease | C0019202 | GeneticVariation | 0.02 | disgenet |
| Hepatolenticular Degeneration | PANK2 | disease | C0019202 | Biomarker | 0.02 | disgenet |
| Hepatolenticular Degeneration | SERPINA1 | disease | C0019202 | Biomarker | 0.02 | disgenet |
| Hepatolenticular Degeneration | PNOC | disease | C0019202 | AlteredExpression | 0.02 | disgenet |
| Hepatolenticular Degeneration | STON1 | disease | C0019202 | Biomarker | 0.02 | disgenet |
| Hepatolenticular Degeneration | FXN | disease | C0019202 | Biomarker | 0.02 | disgenet |
| Hepatolenticular Degeneration | NDUFAB1 | disease | C0019202 | Biomarker | 0.01 | disgenet |
| Hepatolenticular Degeneration | RNF19A | disease | C0019202 | Biomarker | 0.01 | disgenet |
| Hepatolenticular Degeneration | ZDHHC2 | disease | C0019202 | Biomarker | 0.01 | disgenet |
| Hepatolenticular Degeneration | SLC39A14 | disease | C0019202 | Biomarker | 0.01 | disgenet |
| Hepatolenticular Degeneration | PDLIM3 | disease | C0019202 | Biomarker | 0.01 | disgenet |
| Hepatolenticular Degeneration | GRM5 | disease | C0019202 | AlteredExpression | 0.01 | disgenet |
| Hepatolenticular Degeneration | INO80 | disease | C0019202 | GeneticVariation | 0.01 | disgenet |
| Hepatolenticular Degeneration | POLDIP2 | disease | C0019202 | Biomarker | 0.01 | disgenet |
| Hepatolenticular Degeneration | BMS1 | disease | C0019202 | AlteredExpression | 0.01 | disgenet |
| Hepatolenticular Degeneration | MAPK1 | disease | C0019202 | Biomarker | 0.01 | disgenet |
| Hepatolenticular Degeneration | BRAF | disease | C0019202 | GeneticVariation | 0.01 | disgenet |
| Hepatolenticular Degeneration | MT1X | disease | C0019202 | Biomarker | 0.01 | disgenet |
| Hepatolenticular Degeneration | ACACA | disease | C0019202 | AlteredExpression | 0.01 | disgenet |
| Hepatolenticular Degeneration | PROP1 | disease | C0019202 | GeneticVariation | 0.01 | disgenet |
| Hepatolenticular Degeneration | MAPK8 | disease | C0019202 | Biomarker | 0.01 | disgenet |
| Hepatolenticular Degeneration | RXRA | disease | C0019202 | AlteredExpression | 0.01 | disgenet |
| Hepatolenticular Degeneration | PAH | disease | C0019202 | GeneticVariation | 0.01 | disgenet |
| Hepatolenticular Degeneration | PDCD10 | disease | C0019202 | GeneticVariation | 0.01 | disgenet |
| Hepatolenticular Degeneration | ATHS | disease | C0019202 | Biomarker | 0.01 | disgenet |
| Hepatolenticular Degeneration | IL23A | disease | C0019202 | Biomarker | 0.01 | disgenet |
| Hepatolenticular Degeneration | CRK | disease | C0019202 | Biomarker | 0.01 | disgenet |
| Hepatolenticular Degeneration | RB1 | disease | C0019202 | Biomarker | 0.01 | disgenet |
| Hepatolenticular Degeneration | THRB | disease | C0019202 | GeneticVariation | 0.01 | disgenet |
| Hepatolenticular Degeneration | KDR | disease | C0019202 | GeneticVariation | 0.01 | disgenet |
| Hepatolenticular Degeneration | LTA | disease | C0019202 | Biomarker | 0.01 | disgenet |
| Hepatolenticular Degeneration | GLUL | disease | C0019202 | GeneticVariation | 0.01 | disgenet |
| Hepatolenticular Degeneration | TBC1D9 | disease | C0019202 | Biomarker | 0.01 | disgenet |
| Hepatolenticular Degeneration | CRP | disease | C0019202 | GeneticVariation | 0.01 | disgenet |
| Hepatolenticular Degeneration | SERPINA3 | disease | C0019202 | AlteredExpression | 0.01 | disgenet |
| Hepatolenticular Degeneration | OPA1 | disease | C0019202 | GeneticVariation | 0.01 | disgenet |
| Hepatolenticular Degeneration | AMELX | disease | C0019202 | Biomarker | 0.01 | disgenet |
| Hepatolenticular Degeneration | GRAP2 | disease | C0019202 | Biomarker | 0.01 | disgenet |
| Hepatolenticular Degeneration | CFTR | disease | C0019202 | GeneticVariation | 0.01 | disgenet |
| Hepatolenticular Degeneration | AIMP2 | disease | C0019202 | Biomarker | 0.01 | disgenet |
| Hepatolenticular Degeneration | NAT10 | disease | C0019202 | Biomarker | 0.01 | disgenet |
| Hepatolenticular Degeneration | BEST1 | disease | C0019202 | Biomarker | 0.01 | disgenet |
| Hepatolenticular Degeneration | DNAJC5 | disease | C0019202 | Biomarker | 0.01 | disgenet |
| Hepatolenticular Degeneration | TYR | disease | C0019202 | GeneticVariation | 0.01 | disgenet |
| Hepatolenticular Degeneration | VCAM1 | disease | C0019202 | Biomarker | 0.01 | disgenet |
| Hepatolenticular Degeneration | DRD2 | disease | C0019202 | GeneticVariation | 0.01 | disgenet |
| Hepatolenticular Degeneration | IL1A | disease | C0019202 | Biomarker | 0.01 | disgenet |
| Hepatolenticular Degeneration | HNF4A | disease | C0019202 | AlteredExpression | 0.01 | disgenet |
| Hepatolenticular Degeneration | PPARG | disease | C0019202 | Biomarker | 0.01 | disgenet |
| Hepatolenticular Degeneration | ACE | disease | C0019202 | Biomarker | 0.01 | disgenet |
| Hepatolenticular Degeneration | SLC31A2 | disease | C0019202 | Biomarker | 0.01 | disgenet |
| Hepatolenticular Degeneration | PNPLA3 | disease | C0019202 | GeneticVariation | 0.01 | disgenet |
| Hepatolenticular Degeneration | CPAT1 | disease | C0019202 | Biomarker | 0.01 | disgenet |
| Hepatolenticular Degeneration | CAT | disease | C0019202 | GeneticVariation | 0.01 | disgenet |
| Hepatolenticular Degeneration | IL13 | disease | C0019202 | Biomarker | 0.01 | disgenet |
| Hepatolenticular Degeneration | IGAN1 | disease | C0019202 | Biomarker | 0.01 | disgenet |
| Hepatolenticular Degeneration | MTF1 | disease | C0019202 | GeneticVariation | 0.01 | disgenet |
| Hepatolenticular Degeneration | RBPJP4 | disease | C0019202 | Biomarker | 0.01 | disgenet |
| Hepatolenticular Degeneration | MAPK14 | disease | C0019202 | Biomarker | 0.01 | disgenet |
| Hepatolenticular Degeneration | SOD2 | disease | C0019202 | GeneticVariation | 0.01 | disgenet |
| Hepatolenticular Degeneration | IL1R1 | disease | C0019202 | Biomarker | 0.01 | disgenet |
| Hepatolenticular Degeneration | SLPI | disease | C0019202 | Biomarker | 0.01 | disgenet |
| Hepatolenticular Degeneration | GAST | disease | C0019202 | Biomarker | 0.01 | disgenet |
| Hepatolenticular Degeneration | FNDC3A | disease | C0019202 | GeneticVariation | 0.01 | disgenet |
| Hepatolenticular Degeneration | PAGR1 | disease | C0019202 | Biomarker | 0.01 | disgenet |
| Hepatolenticular Degeneration | IL1RN | disease | C0019202 | Biomarker | 0.01 | disgenet |
| Hepatolenticular Degeneration | FOXA2 | disease | C0019202 | AlteredExpression | 0.01 | disgenet |
| Hepatolenticular Degeneration | SLC11A2 | disease | C0019202 | GeneticVariation | 0.01 | disgenet |
| Hepatolenticular Degeneration | DDIT3 | disease | C0019202 | Biomarker | 0.01 | disgenet |
| Hepatolenticular Degeneration | VEGFA | disease | C0019202 | GeneticVariation | 0.01 | disgenet |
| Hepatolenticular Degeneration | GALNS | disease | C0019202 | Biomarker | 0.01 | disgenet |
| Hepatolenticular Degeneration | ASRGL1 | disease | C0019202 | Biomarker | 0.01 | disgenet |
| Hepatolenticular Degeneration | IL2 | disease | C0019202 | GeneticVariation | 0.01 | disgenet |
| Hepatolenticular Degeneration | XIAP | disease | C0019202 | Biomarker | 0.01 | disgenet |
| Hepatolenticular Degeneration | MTHFR | disease | C0019202 | GeneticVariation | 0.01 | disgenet |
| Hepatolenticular Degeneration | DMD | disease | C0019202 | Biomarker | 0.01 | disgenet |
| Hepatolenticular Degeneration | XPR1 | disease | C0019202 | Biomarker | 0.01 | disgenet |
| Hepatolenticular Degeneration | ATRNL1 | disease | C0019202 | Biomarker | 0.01 | disgenet |
| Hepatolenticular Degeneration | CHMP2B | disease | C0019202 | GeneticVariation | 0.01 | disgenet |
| Hepatolenticular Degeneration | CTNNB1 | disease | C0019202 | AlteredExpression | 0.01 | disgenet |
| Hepatolenticular Degeneration | ABCB1 | disease | C0019202 | Biomarker | 0.01 | disgenet |
| Hepatolenticular Degeneration | CCL27 | disease | C0019202 | Biomarker | 0.01 | disgenet |
| Hepatolenticular Degeneration | ALPP | disease | C0019202 | Biomarker | 0.01 | disgenet |
| Hepatolenticular Degeneration | CLU | disease | C0019202 | Biomarker | 0.01 | disgenet |
| Hepatolenticular Degeneration | SLC39A8 | disease | C0019202 | GeneticVariation | 0.01 | disgenet |
| Hepatolenticular Degeneration | XRCC5 | disease | C0019202 | GeneticVariation | 0.01 | disgenet |
| Hepatolenticular Degeneration | SLC17A5 | disease | C0019202 | Biomarker | 0.01 | disgenet |
| Hepatolenticular Degeneration | CCS | disease | C0019202 | AlteredExpression | 0.01 | disgenet |
| Hepatolenticular Degeneration | DMRT1 | disease | C0019202 | GeneticVariation | 0.01 | disgenet |
| Hepatolenticular Degeneration | DBH | disease | C0019202 | GeneticVariation | 0.01 | disgenet |
| Hepatolenticular Degeneration | AHSA1 | disease | C0019202 | Biomarker | 0.01 | disgenet |
| Hepatolenticular Degeneration | GPX1 | disease | C0019202 | GeneticVariation | 0.01 | disgenet |
| Hepatolenticular Degeneration | CALCR | disease | C0019202 | Biomarker | 0.01 | disgenet |
| Hepatolenticular Degeneration | TXN | disease | C0019202 | GeneticVariation | 0.01 | disgenet |
| Hepatolenticular Degeneration | CCDC115 | disease | C0019202 | GeneticVariation | 0.01 | disgenet |
| Hepatolenticular Degeneration | FOXA1 | disease | C0019202 | AlteredExpression | 0.01 | disgenet |
| Hepatolenticular Degeneration | IDO1 | disease | C0019202 | Biomarker | 0.01 | disgenet |
| Hepatolenticular Degeneration | SPG7 | disease | C0019202 | Biomarker | 0.01 | disgenet |
| Hepatolenticular Degeneration | DNAH8 | disease | C0019202 | Biomarker | 0.01 | disgenet |
| Hepatolenticular Degeneration | PRC1 | disease | C0019202 | Biomarker | 0.01 | disgenet |
| Hepatolenticular Degeneration | GOLM1 | disease | C0019202 | AlteredExpression | 0.01 | disgenet |
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