| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Polycystic Kidney, Autosomal Recessive | PKHD1 | disease | C0085548 | CausalMutation | 1 | orphanet , disgenet |
| Polycystic Kidney, Autosomal Recessive | PKHD1 | disease | C0085548 | AlteredExpression | 1 | orphanet , disgenet |
| Polycystic Kidney, Autosomal Recessive | PKHD1 | disease | C0085548 | GeneticVariation | 1 | orphanet , disgenet |
| Polycystic Kidney, Autosomal Recessive | PKHD1 | disease | C0085548 | SusceptibilityMutation | 1 | orphanet , disgenet |
| Polycystic Kidney, Autosomal Recessive | PKHD1 | disease | C0085548 | Biomarker | 1 | orphanet , disgenet |
| Polycystic Kidney, Autosomal Recessive | DZIP1L | disease | C0085548 | Biomarker | 0.81 | orphanet , disgenet |
| Polycystic Kidney, Autosomal Recessive | DZIP1L | disease | C0085548 | GermlineCausalMutation | 0.81 | orphanet , disgenet |
| Polycystic Kidney, Autosomal Recessive | IFT88 | disease | C0085548 | Biomarker | 0.53 | disgenet |
| Polycystic Kidney, Autosomal Recessive | IFT88 | disease | C0085548 | GeneticVariation | 0.53 | disgenet |
| Polycystic Kidney, Autosomal Recessive | AQP1 | disease | C0085548 | Biomarker | 0.51 | disgenet |
| Polycystic Kidney, Autosomal Recessive | AQP1 | disease | C0085548 | AlteredExpression | 0.51 | disgenet |
| Polycystic Kidney, Autosomal Recessive | SLC4A2 | disease | C0085548 | Biomarker | 0.5 | disgenet |
| Polycystic Kidney, Autosomal Recessive | CFTR | disease | C0085548 | Biomarker | 0.5 | disgenet |
| Polycystic Kidney, Autosomal Recessive | PKD1 | disease | C0085548 | GeneticVariation | 0.36 | disgenet |
| Polycystic Kidney, Autosomal Recessive | PKD1 | disease | C0085548 | CausalMutation | 0.36 | disgenet |
| Polycystic Kidney, Autosomal Recessive | PKD1 | disease | C0085548 | Biomarker | 0.36 | disgenet |
| Polycystic Kidney, Autosomal Recessive | EGFR | disease | C0085548 | Biomarker | 0.32 | disgenet |
| Polycystic Kidney, Autosomal Recessive | SRC | disease | C0085548 | Biomarker | 0.3 | disgenet |
| Polycystic Kidney, Autosomal Recessive | NPHP3 | disease | C0085548 | Biomarker | 0.3 | disgenet |
| Polycystic Kidney, Autosomal Recessive | MTOR | disease | C0085548 | Biomarker | 0.21 | disgenet |
| Polycystic Kidney, Autosomal Recessive | CYS1 | disease | C0085548 | Biomarker | 0.21 | disgenet |
| Polycystic Kidney, Autosomal Recessive | TSC1 | disease | C0085548 | Biomarker | 0.21 | disgenet |
| Polycystic Kidney, Autosomal Recessive | AKT1 | disease | C0085548 | Biomarker | 0.21 | disgenet |
| Polycystic Kidney, Autosomal Recessive | CDC25A | disease | C0085548 | AlteredExpression | 0.21 | disgenet |
| Polycystic Kidney, Autosomal Recessive | MTOR | disease | C0085548 | AlteredExpression | 0.21 | disgenet |
| Polycystic Kidney, Autosomal Recessive | CDC25A | disease | C0085548 | Therapeutic | 0.21 | disgenet |
| Polycystic Kidney, Autosomal Recessive | TMEM67 | disease | C0085548 | GeneticVariation | 0.21 | disgenet |
| Polycystic Kidney, Autosomal Recessive | CDC25A | disease | C0085548 | Biomarker | 0.21 | disgenet |
| Polycystic Kidney, Autosomal Recessive | TMEM67 | disease | C0085548 | Biomarker | 0.21 | disgenet |
| Polycystic Kidney, Autosomal Recessive | SCLT1 | disease | C0085548 | Biomarker | 0.2 | disgenet |
| Polycystic Kidney, Autosomal Recessive | NEK8 | disease | C0085548 | Biomarker | 0.2 | disgenet |
| Polycystic Kidney, Autosomal Recessive | BICC1 | disease | C0085548 | Biomarker | 0.2 | disgenet |
| Polycystic Kidney, Autosomal Recessive | PANX1 | disease | C0085548 | Biomarker | 0.2 | disgenet |
| Polycystic Kidney, Autosomal Recessive | PIK3CA | disease | C0085548 | Biomarker | 0.2 | disgenet |
| Polycystic Kidney, Autosomal Recessive | ARL3 | disease | C0085548 | Biomarker | 0.2 | disgenet |
| Polycystic Kidney, Autosomal Recessive | ACE | disease | C0085548 | Biomarker | 0.2 | disgenet |
| Polycystic Kidney, Autosomal Recessive | ELN | disease | C0085548 | Biomarker | 0.2 | disgenet |
| Polycystic Kidney, Autosomal Recessive | NEK1 | disease | C0085548 | Biomarker | 0.2 | disgenet |
| Polycystic Kidney, Autosomal Recessive | CYP4A22 | disease | C0085548 | Biomarker | 0.2 | disgenet |
| Polycystic Kidney, Autosomal Recessive | PKD2 | disease | C0085548 | AlteredExpression | 0.17 | disgenet |
| Polycystic Kidney, Autosomal Recessive | PKD2 | disease | C0085548 | GeneticVariation | 0.17 | disgenet |
| Polycystic Kidney, Autosomal Recessive | PKD2 | disease | C0085548 | Biomarker | 0.17 | disgenet |
| Polycystic Kidney, Autosomal Recessive | PKD2 | disease | C0085548 | CausalMutation | 0.17 | disgenet |
| Polycystic Kidney, Autosomal Recessive | MIR1225 | disease | C0085548 | CausalMutation | 0.1 | disgenet |
| Polycystic Kidney, Autosomal Recessive | PRKD1 | disease | C0085548 | Biomarker | 0.07 | disgenet |
| Polycystic Kidney, Autosomal Recessive | PRKD1 | disease | C0085548 | GeneticVariation | 0.07 | disgenet |
| Polycystic Kidney, Autosomal Recessive | HNF1B | disease | C0085548 | AlteredExpression | 0.03 | disgenet |
| Polycystic Kidney, Autosomal Recessive | HNF1B | disease | C0085548 | Biomarker | 0.03 | disgenet |
| Polycystic Kidney, Autosomal Recessive | HNF1B | disease | C0085548 | GeneticVariation | 0.03 | disgenet |
| Polycystic Kidney, Autosomal Recessive | TSC2 | disease | C0085548 | GeneticVariation | 0.03 | disgenet |
| Polycystic Kidney, Autosomal Recessive | P2RY1 | disease | C0085548 | AlteredExpression | 0.02 | disgenet |
| Polycystic Kidney, Autosomal Recessive | P2RX4 | disease | C0085548 | AlteredExpression | 0.02 | disgenet |
| Polycystic Kidney, Autosomal Recessive | P2RX5 | disease | C0085548 | AlteredExpression | 0.02 | disgenet |
| Polycystic Kidney, Autosomal Recessive | P2RX1 | disease | C0085548 | AlteredExpression | 0.02 | disgenet |
| Polycystic Kidney, Autosomal Recessive | PKHD1L1 | disease | C0085548 | Biomarker | 0.02 | disgenet |
| Polycystic Kidney, Autosomal Recessive | P2RX3 | disease | C0085548 | AlteredExpression | 0.02 | disgenet |
| Polycystic Kidney, Autosomal Recessive | P2RX7 | disease | C0085548 | AlteredExpression | 0.02 | disgenet |
| Polycystic Kidney, Autosomal Recessive | P2RY2 | disease | C0085548 | AlteredExpression | 0.02 | disgenet |
| Polycystic Kidney, Autosomal Recessive | P2RX5-TAX1BP3 | disease | C0085548 | AlteredExpression | 0.02 | disgenet |
| Polycystic Kidney, Autosomal Recessive | P2RX2 | disease | C0085548 | AlteredExpression | 0.02 | disgenet |
| Polycystic Kidney, Autosomal Recessive | P2RX6 | disease | C0085548 | AlteredExpression | 0.02 | disgenet |
| Polycystic Kidney, Autosomal Recessive | MCM3 | disease | C0085548 | Biomarker | 0.01 | disgenet |
| Polycystic Kidney, Autosomal Recessive | EPHA3 | disease | C0085548 | Biomarker | 0.01 | disgenet |
| Polycystic Kidney, Autosomal Recessive | PKD2L1 | disease | C0085548 | Biomarker | 0.01 | disgenet |
| Polycystic Kidney, Autosomal Recessive | PXN | disease | C0085548 | Biomarker | 0.01 | disgenet |
| Polycystic Kidney, Autosomal Recessive | CEP164 | disease | C0085548 | Biomarker | 0.01 | disgenet |
| Polycystic Kidney, Autosomal Recessive | ACTB | disease | C0085548 | Biomarker | 0.01 | disgenet |
| Polycystic Kidney, Autosomal Recessive | SCRIB | disease | C0085548 | AlteredExpression | 0.01 | disgenet |
| Polycystic Kidney, Autosomal Recessive | PCNA | disease | C0085548 | Biomarker | 0.01 | disgenet |
| Polycystic Kidney, Autosomal Recessive | APOE | disease | C0085548 | Biomarker | 0.01 | disgenet |
| Polycystic Kidney, Autosomal Recessive | VANGL2 | disease | C0085548 | AlteredExpression | 0.01 | disgenet |
| Polycystic Kidney, Autosomal Recessive | UMOD | disease | C0085548 | AlteredExpression | 0.01 | disgenet |
| Polycystic Kidney, Autosomal Recessive | EGF | disease | C0085548 | Biomarker | 0.01 | disgenet |
| Polycystic Kidney, Autosomal Recessive | PACC1 | disease | C0085548 | Biomarker | 0.01 | disgenet |
| Polycystic Kidney, Autosomal Recessive | ARID1A | disease | C0085548 | GeneticVariation | 0.01 | disgenet |
| Polycystic Kidney, Autosomal Recessive | DAAM2 | disease | C0085548 | AlteredExpression | 0.01 | disgenet |
| Polycystic Kidney, Autosomal Recessive | ATN1 | disease | C0085548 | GeneticVariation | 0.01 | disgenet |
| Polycystic Kidney, Autosomal Recessive | GSTA1 | disease | C0085548 | GeneticVariation | 0.01 | disgenet |
| Polycystic Kidney, Autosomal Recessive | TST | disease | C0085548 | GeneticVariation | 0.01 | disgenet |
| Polycystic Kidney, Autosomal Recessive | STATH | disease | C0085548 | GeneticVariation | 0.01 | disgenet |
| Polycystic Kidney, Autosomal Recessive | SMAD3 | disease | C0085548 | Biomarker | 0.01 | disgenet |
| Polycystic Kidney, Autosomal Recessive | CASR | disease | C0085548 | GeneticVariation | 0.01 | disgenet |
| Polycystic Kidney, Autosomal Recessive | PRPH2 | disease | C0085548 | GeneticVariation | 0.01 | disgenet |
| Polycystic Kidney, Autosomal Recessive | MEP1A | disease | C0085548 | Biomarker | 0.01 | disgenet |
| Polycystic Kidney, Autosomal Recessive | NEDD4 | disease | C0085548 | Biomarker | 0.01 | disgenet |
| Polycystic Kidney, Autosomal Recessive | ATMIN | disease | C0085548 | AlteredExpression | 0.01 | disgenet |
| Polycystic Kidney, Autosomal Recessive | AVPR2 | disease | C0085548 | Biomarker | 0.01 | disgenet |
| Polycystic Kidney, Autosomal Recessive | AFP | disease | C0085548 | Biomarker | 0.01 | disgenet |
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