| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Blue cone monochromatism | OPN1LW | disease | C0339537 | GeneticVariation | 0.97 | orphanet , disgenet |
| Blue cone monochromatism | OPN1LW | disease | C0339537 | Biomarker | 0.97 | orphanet , disgenet |
| Blue cone monochromatism | OPN1LW | disease | C0339537 | CausalMutation | 0.97 | orphanet , disgenet |
| Blue cone monochromatism | OPN1LW | disease | C0339537 | GermlineCausalMutation | 0.97 | orphanet , disgenet |
| Blue cone monochromatism | OPN1MW | disease | C0339537 | Biomarker | 0.77 | orphanet , disgenet |
| Blue cone monochromatism | OPN1MW | disease | C0339537 | GeneticVariation | 0.77 | orphanet , disgenet |
| Blue cone monochromatism | OPN1MW | disease | C0339537 | CausalMutation | 0.77 | orphanet , disgenet |
| Blue cone monochromatism | OPN1MW | disease | C0339537 | GermlineCausalMutation | 0.77 | orphanet , disgenet |
| Blue cone monochromatism | CNGB3 | disease | C0339537 | Biomarker | 0.12 | disgenet |
| Blue cone monochromatism | CNGA3 | disease | C0339537 | Biomarker | 0.12 | disgenet |
| Blue cone monochromatism | CNGB3 | disease | C0339537 | GeneticVariation | 0.12 | disgenet |
| Blue cone monochromatism | GNAT2 | disease | C0339537 | Biomarker | 0.12 | disgenet |
| Blue cone monochromatism | GNAT2 | disease | C0339537 | GeneticVariation | 0.12 | disgenet |
| Blue cone monochromatism | CNGA3 | disease | C0339537 | GeneticVariation | 0.12 | disgenet |
| Blue cone monochromatism | PDE6H | disease | C0339537 | GeneticVariation | 0.11 | disgenet |
| Blue cone monochromatism | PDE6H | disease | C0339537 | CausalMutation | 0.11 | disgenet |
| Blue cone monochromatism | PDE6C | disease | C0339537 | Biomarker | 0.11 | disgenet |
| Blue cone monochromatism | PDE6H | disease | C0339537 | Biomarker | 0.11 | disgenet |
| Blue cone monochromatism | PDE6C | disease | C0339537 | GeneticVariation | 0.11 | disgenet |
| Blue cone monochromatism | ATF6 | disease | C0339537 | Biomarker | 0.1 | disgenet |
| Blue cone monochromatism | RPGR | disease | C0339537 | Biomarker | 0.1 | disgenet |
| Blue cone monochromatism | HTC2 | disease | C0339537 | Biomarker | 0.01 | disgenet |
| Blue cone monochromatism | PNPLA6 | disease | C0339537 | Biomarker | 0.01 | disgenet |
| Blue cone monochromatism | LIFR | disease | C0339537 | Biomarker | 0.01 | disgenet |
| Blue cone monochromatism | GNAQ | disease | C0339537 | Biomarker | 0.01 | disgenet |
| Blue cone monochromatism | ERG | disease | C0339537 | Biomarker | 0.01 | disgenet |
| Blue cone monochromatism | PTENP1 | disease | C0339537 | Biomarker | 0.01 | disgenet |
| Blue cone monochromatism | NR2E3 | disease | C0339537 | GeneticVariation | 0.01 | disgenet |
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