Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Bietti Crystalline Dystrophy CYP4V2 disease C1859486 GeneticVariation 1 orphanet , disgenet
Bietti Crystalline Dystrophy CYP4V2 disease C1859486 Biomarker 1 orphanet , disgenet
Bietti Crystalline Dystrophy CYP4V2 disease C1859486 GermlineCausalMutation 1 orphanet , disgenet
Bietti Crystalline Dystrophy CYP4V2 disease C1859486 CausalMutation 1 orphanet , disgenet
Bietti Crystalline Dystrophy KLKB1 disease C1859486 CausalMutation 0.1 disgenet
Bietti Crystalline Dystrophy ABCA4 disease C1859486 CausalMutation 0.1 disgenet
Bietti Crystalline Dystrophy TIMP3 disease C1859486 GeneticVariation 0.02 disgenet
Bietti Crystalline Dystrophy TIMP3 disease C1859486 Biomarker 0.02 disgenet
Bietti Crystalline Dystrophy CYP2B6 disease C1859486 GeneticVariation 0.02 disgenet
Bietti Crystalline Dystrophy EYS disease C1859486 Biomarker 0.02 disgenet
Bietti Crystalline Dystrophy GOT2 disease C1859486 Biomarker 0.01 disgenet
Bietti Crystalline Dystrophy FADS3 disease C1859486 AlteredExpression 0.01 disgenet
Bietti Crystalline Dystrophy GCG disease C1859486 Biomarker 0.01 disgenet
Bietti Crystalline Dystrophy ERBB2 disease C1859486 Biomarker 0.01 disgenet
Bietti Crystalline Dystrophy SCD disease C1859486 AlteredExpression 0.01 disgenet
Bietti Crystalline Dystrophy CTNNA1 disease C1859486 GeneticVariation 0.01 disgenet
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