Disease Information | ||||||
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Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
Ocular Albinism type 1 | GPR143 | disease | C0342684 | CausalMutation | 0.8 | orphanet , disgenet |
Ocular Albinism type 1 | GPR143 | disease | C0342684 | AlteredExpression | 0.8 | orphanet , disgenet |
Ocular Albinism type 1 | GPR143 | disease | C0342684 | Biomarker | 0.8 | orphanet , disgenet |
Ocular Albinism type 1 | GPR143 | disease | C0342684 | GermlineCausalMutation | 0.8 | orphanet , disgenet |
Ocular Albinism type 1 | GPR143 | disease | C0342684 | GeneticVariation | 0.8 | orphanet , disgenet |
Ocular Albinism type 1 | TYR | disease | C0342684 | Biomarker | 0.03 | disgenet |
Ocular Albinism type 1 | STS | disease | C0342684 | GeneticVariation | 0.03 | disgenet |
Ocular Albinism type 1 | TYR | disease | C0342684 | GeneticVariation | 0.03 | disgenet |
Ocular Albinism type 1 | STS | disease | C0342684 | Biomarker | 0.03 | disgenet |
Ocular Albinism type 1 | ADRA2B | disease | C0342684 | GeneticVariation | 0.02 | disgenet |
Ocular Albinism type 1 | CLCN4 | disease | C0342684 | GeneticVariation | 0.02 | disgenet |
Ocular Albinism type 1 | ADRA2B | disease | C0342684 | Biomarker | 0.02 | disgenet |
Ocular Albinism type 1 | CXCR6 | disease | C0342684 | Biomarker | 0.02 | disgenet |
Ocular Albinism type 1 | SLC24A5 | disease | C0342684 | Biomarker | 0.02 | disgenet |
Ocular Albinism type 1 | GPR42 | disease | C0342684 | Biomarker | 0.02 | disgenet |
Ocular Albinism type 1 | SSTR4 | disease | C0342684 | GeneticVariation | 0.02 | disgenet |
Ocular Albinism type 1 | ADRA1A | disease | C0342684 | Biomarker | 0.02 | disgenet |
Ocular Albinism type 1 | ACKR3 | disease | C0342684 | Biomarker | 0.02 | disgenet |
Ocular Albinism type 1 | ADRA1A | disease | C0342684 | GeneticVariation | 0.02 | disgenet |
Ocular Albinism type 1 | ACKR3 | disease | C0342684 | GeneticVariation | 0.02 | disgenet |
Ocular Albinism type 1 | CXCR6 | disease | C0342684 | GeneticVariation | 0.02 | disgenet |
Ocular Albinism type 1 | EDNRA | disease | C0342684 | Biomarker | 0.02 | disgenet |
Ocular Albinism type 1 | CLCN4 | disease | C0342684 | Biomarker | 0.02 | disgenet |
Ocular Albinism type 1 | EDNRA | disease | C0342684 | GeneticVariation | 0.02 | disgenet |
Ocular Albinism type 1 | LPAR2 | disease | C0342684 | GeneticVariation | 0.02 | disgenet |
Ocular Albinism type 1 | GPR42 | disease | C0342684 | GeneticVariation | 0.02 | disgenet |
Ocular Albinism type 1 | LPAR2 | disease | C0342684 | Biomarker | 0.02 | disgenet |
Ocular Albinism type 1 | BRS3 | disease | C0342684 | GeneticVariation | 0.02 | disgenet |
Ocular Albinism type 1 | BRS3 | disease | C0342684 | Biomarker | 0.02 | disgenet |
Ocular Albinism type 1 | SSTR4 | disease | C0342684 | Biomarker | 0.02 | disgenet |
Ocular Albinism type 1 | LPAR3 | disease | C0342684 | Biomarker | 0.01 | disgenet |
Ocular Albinism type 1 | OXER1 | disease | C0342684 | Biomarker | 0.01 | disgenet |
Ocular Albinism type 1 | SHROOM2 | disease | C0342684 | Biomarker | 0.01 | disgenet |
Ocular Albinism type 1 | MREG | disease | C0342684 | GeneticVariation | 0.01 | disgenet |
Ocular Albinism type 1 | DMD | disease | C0342684 | GeneticVariation | 0.01 | disgenet |
Ocular Albinism type 1 | APEX1 | disease | C0342684 | Biomarker | 0.01 | disgenet |
Ocular Albinism type 1 | GPRC6A | disease | C0342684 | Biomarker | 0.01 | disgenet |
Ocular Albinism type 1 | VN1R17P | disease | C0342684 | Biomarker | 0.01 | disgenet |
Ocular Albinism type 1 | MRGPRX1 | disease | C0342684 | Biomarker | 0.01 | disgenet |
Ocular Albinism type 1 | GNAI3 | disease | C0342684 | Biomarker | 0.01 | disgenet |
Ocular Albinism type 1 | ABCA4 | disease | C0342684 | GeneticVariation | 0.01 | disgenet |
Ocular Albinism type 1 | LGR6 | disease | C0342684 | Biomarker | 0.01 | disgenet |
Ocular Albinism type 1 | ERG | disease | C0342684 | Biomarker | 0.01 | disgenet |
Ocular Albinism type 1 | TBL1Y | disease | C0342684 | Biomarker | 0.01 | disgenet |
Ocular Albinism type 1 | MRGPRX3 | disease | C0342684 | Biomarker | 0.01 | disgenet |
Ocular Albinism type 1 | SLC38A8 | disease | C0342684 | GeneticVariation | 0.01 | disgenet |
Ocular Albinism type 1 | MRGPRX4 | disease | C0342684 | Biomarker | 0.01 | disgenet |
Ocular Albinism type 1 | GPR166P | disease | C0342684 | Biomarker | 0.01 | disgenet |
Ocular Albinism type 1 | SLC45A2 | disease | C0342684 | Biomarker | 0.01 | disgenet |
Ocular Albinism type 1 | OCA2 | disease | C0342684 | GeneticVariation | 0.01 | disgenet |
Ocular Albinism type 1 | GPR151 | disease | C0342684 | Biomarker | 0.01 | disgenet |
Ocular Albinism type 1 | PPIG | disease | C0342684 | AlteredExpression | 0.01 | disgenet |
Ocular Albinism type 1 | FZD4 | disease | C0342684 | Biomarker | 0.01 | disgenet |
Ocular Albinism type 1 | LRMDA | disease | C0342684 | GeneticVariation | 0.01 | disgenet |
Ocular Albinism type 1 | AP3D1 | NA | C0342684 | NA | NA | orphanet |
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