| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Choroideremia | CHM | disease | C0008525 | Biomarker | 1 | orphanet , disgenet |
| Choroideremia | CHM | disease | C0008525 | CausalMutation | 1 | orphanet , disgenet |
| Choroideremia | CHM | disease | C0008525 | GeneticVariation | 1 | orphanet , disgenet |
| Choroideremia | CHM | disease | C0008525 | GermlineCausalMutation | 1 | orphanet , disgenet |
| Choroideremia | CHM | disease | C0008525 | AlteredExpression | 1 | orphanet , disgenet |
| Choroideremia | POU3F4 | disease | C0008525 | GeneticVariation | 0.13 | disgenet |
| Choroideremia | POU3F4 | disease | C0008525 | Biomarker | 0.13 | disgenet |
| Choroideremia | UBE3B | disease | C0008525 | Biomarker | 0.1 | disgenet |
| Choroideremia | EPHA2 | disease | C0008525 | Biomarker | 0.1 | disgenet |
| Choroideremia | PRPH2 | disease | C0008525 | Biomarker | 0.1 | disgenet |
| Choroideremia | IMPG1 | disease | C0008525 | Biomarker | 0.1 | disgenet |
| Choroideremia | IMPG2 | disease | C0008525 | Biomarker | 0.1 | disgenet |
| Choroideremia | BEST1 | disease | C0008525 | Biomarker | 0.1 | disgenet |
| Choroideremia | CHML | disease | C0008525 | Biomarker | 0.06 | disgenet |
| Choroideremia | CHML | disease | C0008525 | GeneticVariation | 0.06 | disgenet |
| Choroideremia | RPE | disease | C0008525 | Biomarker | 0.06 | disgenet |
| Choroideremia | RPE | disease | C0008525 | GeneticVariation | 0.06 | disgenet |
| Choroideremia | AGFG1 | disease | C0008525 | GeneticVariation | 0.05 | disgenet |
| Choroideremia | AGFG1 | disease | C0008525 | AlteredExpression | 0.05 | disgenet |
| Choroideremia | AGFG1 | disease | C0008525 | Biomarker | 0.05 | disgenet |
| Choroideremia | RAB27A | disease | C0008525 | Biomarker | 0.03 | disgenet |
| Choroideremia | POTEF | disease | C0008525 | Biomarker | 0.02 | disgenet |
| Choroideremia | RPE65 | disease | C0008525 | GeneticVariation | 0.02 | disgenet |
| Choroideremia | AAVS1 | disease | C0008525 | GeneticVariation | 0.02 | disgenet |
| Choroideremia | POTEF | disease | C0008525 | AlteredExpression | 0.02 | disgenet |
| Choroideremia | RPE65 | disease | C0008525 | Biomarker | 0.02 | disgenet |
| Choroideremia | PLXNA2 | disease | C0008525 | Biomarker | 0.02 | disgenet |
| Choroideremia | ACTB | disease | C0008525 | AlteredExpression | 0.02 | disgenet |
| Choroideremia | ACTB | disease | C0008525 | Biomarker | 0.02 | disgenet |
| Choroideremia | RAB6A | disease | C0008525 | Biomarker | 0.02 | disgenet |
| Choroideremia | AAVS1 | disease | C0008525 | Biomarker | 0.02 | disgenet |
| Choroideremia | GDI1 | disease | C0008525 | GeneticVariation | 0.01 | disgenet |
| Choroideremia | ZC3HAV1 | disease | C0008525 | Biomarker | 0.01 | disgenet |
| Choroideremia | RHO | disease | C0008525 | Biomarker | 0.01 | disgenet |
| Choroideremia | ERG | disease | C0008525 | GeneticVariation | 0.01 | disgenet |
| Choroideremia | CCDC6 | disease | C0008525 | Biomarker | 0.01 | disgenet |
| Choroideremia | TAS2R38 | disease | C0008525 | Biomarker | 0.01 | disgenet |
| Choroideremia | MPZ | disease | C0008525 | GeneticVariation | 0.01 | disgenet |
| Choroideremia | EGFR | disease | C0008525 | Biomarker | 0.01 | disgenet |
| Choroideremia | IL1RL1 | disease | C0008525 | GeneticVariation | 0.01 | disgenet |
| Choroideremia | PTCH1 | disease | C0008525 | Biomarker | 0.01 | disgenet |
| Choroideremia | RAB27B | disease | C0008525 | Biomarker | 0.01 | disgenet |
| Choroideremia | UPF1 | disease | C0008525 | AlteredExpression | 0.01 | disgenet |
| Choroideremia | F9 | disease | C0008525 | Biomarker | 0.01 | disgenet |
| Choroideremia | CD99 | disease | C0008525 | Biomarker | 0.01 | disgenet |
| Choroideremia | NOC2L | disease | C0008525 | Biomarker | 0.01 | disgenet |
| Choroideremia | LINC01194 | disease | C0008525 | GeneticVariation | 0.01 | disgenet |
| Choroideremia | CD14 | disease | C0008525 | Biomarker | 0.01 | disgenet |
| Choroideremia | OPN4 | disease | C0008525 | Biomarker | 0.01 | disgenet |
| Choroideremia | RET | disease | C0008525 | Biomarker | 0.01 | disgenet |
| Choroideremia | RAB7A | disease | C0008525 | Biomarker | 0.01 | disgenet |
| Choroideremia | RAB7B | disease | C0008525 | Biomarker | 0.01 | disgenet |
| Choroideremia | RN7SL263P | disease | C0008525 | Biomarker | 0.01 | disgenet |
| Choroideremia | RAB38 | disease | C0008525 | Biomarker | 0.01 | disgenet |
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