Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Albinism, Oculocutaneous TYR disease C0078918 CausalMutation 0.9 disgenet
Albinism, Oculocutaneous TYR disease C0078918 AlteredExpression 0.9 disgenet
Albinism, Oculocutaneous TYR disease C0078918 GeneticVariation 0.9 disgenet
Albinism, Oculocutaneous TYR disease C0078918 Biomarker 0.9 disgenet
Albinism, Oculocutaneous SLC45A2 disease C0078918 Biomarker 0.6 orphanet , disgenet
Albinism, Oculocutaneous OCA2 disease C0078918 Biomarker 0.6 disgenet
Albinism, Oculocutaneous OCA2 disease C0078918 GeneticVariation 0.6 disgenet
Albinism, Oculocutaneous SLC45A2 disease C0078918 GeneticVariation 0.6 orphanet , disgenet
Albinism, Oculocutaneous TYRP1 disease C0078918 GeneticVariation 0.4 disgenet
Albinism, Oculocutaneous HPS1 disease C0078918 GeneticVariation 0.4 disgenet
Albinism, Oculocutaneous HPS1 disease C0078918 Biomarker 0.4 disgenet
Albinism, Oculocutaneous TYRP1 disease C0078918 Biomarker 0.4 disgenet
Albinism, Oculocutaneous SLC24A5 disease C0078918 GeneticVariation 0.37 orphanet , disgenet
Albinism, Oculocutaneous SLC24A5 disease C0078918 Biomarker 0.37 orphanet , disgenet
Albinism, Oculocutaneous MITF disease C0078918 Biomarker 0.31 disgenet
Albinism, Oculocutaneous MITF disease C0078918 GeneticVariation 0.31 disgenet
Albinism, Oculocutaneous AP3B1 disease C0078918 Biomarker 0.08 disgenet
Albinism, Oculocutaneous AP3B1 disease C0078918 GeneticVariation 0.08 disgenet
Albinism, Oculocutaneous MC1R disease C0078918 GeneticVariation 0.04 disgenet
Albinism, Oculocutaneous HPS4 disease C0078918 Biomarker 0.04 disgenet
Albinism, Oculocutaneous HPS4 disease C0078918 GeneticVariation 0.04 disgenet
Albinism, Oculocutaneous MC1R disease C0078918 Biomarker 0.04 disgenet
Albinism, Oculocutaneous HPS6 disease C0078918 GeneticVariation 0.04 disgenet
Albinism, Oculocutaneous TFF1 disease C0078918 Biomarker 0.03 disgenet
Albinism, Oculocutaneous GPR143 disease C0078918 GeneticVariation 0.03 disgenet
Albinism, Oculocutaneous TFF1 disease C0078918 GeneticVariation 0.03 disgenet
Albinism, Oculocutaneous HERC2 disease C0078918 Biomarker 0.03 disgenet
Albinism, Oculocutaneous FGL1 disease C0078918 GeneticVariation 0.03 disgenet
Albinism, Oculocutaneous GPR143 disease C0078918 Biomarker 0.03 disgenet
Albinism, Oculocutaneous FGL1 disease C0078918 Biomarker 0.03 disgenet
Albinism, Oculocutaneous LYST disease C0078918 GeneticVariation 0.02 disgenet
Albinism, Oculocutaneous RAB38 disease C0078918 Biomarker 0.02 disgenet
Albinism, Oculocutaneous KIT disease C0078918 GeneticVariation 0.01 disgenet
Albinism, Oculocutaneous GABRB3 disease C0078918 GeneticVariation 0.01 disgenet
Albinism, Oculocutaneous CTLA4 disease C0078918 GeneticVariation 0.01 disgenet
Albinism, Oculocutaneous NR2F2 disease C0078918 GeneticVariation 0.01 disgenet
Albinism, Oculocutaneous HT disease C0078918 Biomarker 0.01 disgenet
Albinism, Oculocutaneous ATP7B disease C0078918 GeneticVariation 0.01 disgenet
Albinism, Oculocutaneous CRYBG1 disease C0078918 GeneticVariation 0.01 disgenet
Albinism, Oculocutaneous BRAF disease C0078918 GeneticVariation 0.01 disgenet
Albinism, Oculocutaneous SLC24A4 disease C0078918 GeneticVariation 0.01 disgenet
Albinism, Oculocutaneous GOLGA6L2 disease C0078918 Biomarker 0.01 disgenet
Albinism, Oculocutaneous VPS13B disease C0078918 GeneticVariation 0.01 disgenet
Albinism, Oculocutaneous ERG disease C0078918 Biomarker 0.01 disgenet
Albinism, Oculocutaneous POT1 disease C0078918 GeneticVariation 0.01 disgenet
Albinism, Oculocutaneous PTEN disease C0078918 GeneticVariation 0.01 disgenet
Albinism, Oculocutaneous MGMT disease C0078918 GeneticVariation 0.01 disgenet
Albinism, Oculocutaneous PIK3CA disease C0078918 GeneticVariation 0.01 disgenet
Albinism, Oculocutaneous CDKN2A disease C0078918 GeneticVariation 0.01 disgenet
Albinism, Oculocutaneous NRAS disease C0078918 GeneticVariation 0.01 disgenet
Albinism, Oculocutaneous BRCA1 disease C0078918 GeneticVariation 0.01 disgenet
Albinism, Oculocutaneous AURKB disease C0078918 GeneticVariation 0.01 disgenet
Albinism, Oculocutaneous GABRA5 disease C0078918 Biomarker 0.01 disgenet
Albinism, Oculocutaneous PMEL disease C0078918 Biomarker 0.01 disgenet
Albinism, Oculocutaneous CSF3 disease C0078918 Biomarker 0.01 disgenet
Albinism, Oculocutaneous AP3D1 disease C0078918 Biomarker 0.01 disgenet
Albinism, Oculocutaneous IGF1R disease C0078918 Biomarker 0.01 disgenet
Albinism, Oculocutaneous BRCA2 disease C0078918 GeneticVariation 0.01 disgenet
Albinism, Oculocutaneous DTNBP1 disease C0078918 Biomarker 0.01 disgenet
Albinism, Oculocutaneous PLXNA2 disease C0078918 Biomarker 0.01 disgenet
Albinism, Oculocutaneous CDK4 disease C0078918 GeneticVariation 0.01 disgenet
Albinism, Oculocutaneous RMRP disease C0078918 Biomarker 0.01 disgenet
Albinism, Oculocutaneous G6PC3 disease C0078918 Biomarker 0.01 disgenet
Albinism, Oculocutaneous OCA5 disease C0078918 GeneticVariation 0.01 disgenet
Albinism, Oculocutaneous LRMDA NA C0078918 NA NA orphanet
Albinism, Oculocutaneous DCT NA C0078918 NA NA orphanet
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