Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Albinism AP3D1 disease C0001916 Biomarker 0.41 disgenet
Albinism TYR disease C0001916 GeneticVariation 0.4 disgenet
Albinism TYR disease C0001916 AlteredExpression 0.4 disgenet
Albinism TYR disease C0001916 Biomarker 0.4 disgenet
Albinism TYR disease C0001916 CausalMutation 0.4 disgenet
Albinism MITF disease C0001916 Biomarker 0.33 disgenet
Albinism MITF disease C0001916 GeneticVariation 0.33 disgenet
Albinism LYST disease C0001916 Biomarker 0.3 disgenet
Albinism SLC45A2 disease C0001916 GeneticVariation 0.16 disgenet
Albinism SLC45A2 disease C0001916 Biomarker 0.16 disgenet
Albinism OCA2 disease C0001916 GeneticVariation 0.15 disgenet
Albinism TYRP1 disease C0001916 Biomarker 0.15 disgenet
Albinism TYRP1 disease C0001916 CausalMutation 0.15 disgenet
Albinism OCA2 disease C0001916 Biomarker 0.15 disgenet
Albinism TYRP1 disease C0001916 GeneticVariation 0.15 disgenet
Albinism AP3B1 disease C0001916 Biomarker 0.14 disgenet
Albinism AP3B1 disease C0001916 GeneticVariation 0.14 disgenet
Albinism GPR143 disease C0001916 Biomarker 0.12 disgenet
Albinism GPR143 disease C0001916 GeneticVariation 0.12 disgenet
Albinism HPS1 disease C0001916 GeneticVariation 0.12 disgenet
Albinism HPS1 disease C0001916 Biomarker 0.12 disgenet
Albinism HPS4 disease C0001916 Biomarker 0.11 disgenet
Albinism HPS5 disease C0001916 Biomarker 0.11 disgenet
Albinism HPS4 disease C0001916 GeneticVariation 0.11 disgenet
Albinism LRMDA disease C0001916 Biomarker 0.11 disgenet
Albinism LRMDA disease C0001916 GeneticVariation 0.11 disgenet
Albinism HPS5 disease C0001916 GeneticVariation 0.11 disgenet
Albinism CACNA1F disease C0001916 Biomarker 0.1 disgenet
Albinism HPS6 disease C0001916 Biomarker 0.1 disgenet
Albinism DTNBP1 disease C0001916 Biomarker 0.1 disgenet
Albinism EDNRB disease C0001916 Biomarker 0.1 disgenet
Albinism EPG5 disease C0001916 Biomarker 0.1 disgenet
Albinism MC1R disease C0001916 Biomarker 0.1 disgenet
Albinism BLOC1S3 disease C0001916 Biomarker 0.1 disgenet
Albinism FRMD7 disease C0001916 GeneticVariation 0.02 disgenet
Albinism PAX6 disease C0001916 GeneticVariation 0.02 disgenet
Albinism RAB27A disease C0001916 GeneticVariation 0.02 disgenet
Albinism FRMD7 disease C0001916 Biomarker 0.02 disgenet
Albinism FGL1 disease C0001916 GeneticVariation 0.02 disgenet
Albinism IDS disease C0001916 GeneticVariation 0.01 disgenet
Albinism TFF1 disease C0001916 Biomarker 0.01 disgenet
Albinism OXER1 disease C0001916 Biomarker 0.01 disgenet
Albinism MRGPRX4 disease C0001916 Biomarker 0.01 disgenet
Albinism MRGPRX1 disease C0001916 Biomarker 0.01 disgenet
Albinism FZD4 disease C0001916 Biomarker 0.01 disgenet
Albinism GPR166P disease C0001916 Biomarker 0.01 disgenet
Albinism MRGPRX3 disease C0001916 Biomarker 0.01 disgenet
Albinism LPAR3 disease C0001916 Biomarker 0.01 disgenet
Albinism VN1R17P disease C0001916 Biomarker 0.01 disgenet
Albinism DCT disease C0001916 GeneticVariation 0.01 disgenet
Albinism RTEL1 disease C0001916 GeneticVariation 0.01 disgenet
Albinism HPS3 disease C0001916 GeneticVariation 0.01 disgenet
Albinism PLXNA2 disease C0001916 Biomarker 0.01 disgenet
Albinism BLOC1S6 disease C0001916 Biomarker 0.01 disgenet
Albinism GPR151 disease C0001916 Biomarker 0.01 disgenet
Albinism INS disease C0001916 Biomarker 0.01 disgenet
Albinism TCOF1 disease C0001916 Biomarker 0.01 disgenet
Albinism GPRC6A disease C0001916 Biomarker 0.01 disgenet
Albinism LGR6 disease C0001916 Biomarker 0.01 disgenet
Albinism AGFG1 disease C0001916 GeneticVariation 0.01 disgenet
Albinism SLC38A8 disease C0001916 GeneticVariation 0.01 disgenet
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