Disease Information
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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