Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Cutis Laxa, Autosomal Recessive EFEMP2 disease C3665335 GeneticVariation 0.07 disgenet
Cutis Laxa, Autosomal Recessive EFEMP2 disease C3665335 Biomarker 0.07 disgenet
Cutis Laxa, Autosomal Recessive PYCR1 disease C3665335 Biomarker 0.05 disgenet
Cutis Laxa, Autosomal Recessive PYCR1 disease C3665335 GeneticVariation 0.05 disgenet
Cutis Laxa, Autosomal Recessive FBLN5 disease C3665335 Biomarker 0.05 disgenet
Cutis Laxa, Autosomal Recessive ATP6V0A2 disease C3665335 Biomarker 0.05 disgenet
Cutis Laxa, Autosomal Recessive FBLN5 disease C3665335 GeneticVariation 0.05 disgenet
Cutis Laxa, Autosomal Recessive ATP6V0A2 disease C3665335 GeneticVariation 0.05 disgenet
Cutis Laxa, Autosomal Recessive LTBP4 disease C3665335 Biomarker 0.03 disgenet
Cutis Laxa, Autosomal Recessive LTBP4 disease C3665335 GeneticVariation 0.03 disgenet
Cutis Laxa, Autosomal Recessive ELN disease C3665335 Biomarker 0.02 disgenet
Cutis Laxa, Autosomal Recessive ELN disease C3665335 GeneticVariation 0.02 disgenet
Cutis Laxa, Autosomal Recessive TGFB2 disease C3665335 Biomarker 0.01 disgenet
Cutis Laxa, Autosomal Recessive LOX disease C3665335 GeneticVariation 0.01 disgenet
Cutis Laxa, Autosomal Recessive TGFB1 disease C3665335 Biomarker 0.01 disgenet
Cutis Laxa, Autosomal Recessive GORAB disease C3665335 Biomarker 0.01 disgenet
Cutis Laxa, Autosomal Recessive APOC3 disease C3665335 Biomarker 0.01 disgenet
Cutis Laxa, Autosomal Recessive AMD1 disease C3665335 GeneticVariation 0.01 disgenet
Cutis Laxa, Autosomal Recessive ATP6V1A disease C3665335 GeneticVariation 0.01 disgenet
Cutis Laxa, Autosomal Recessive FGF2 disease C3665335 AlteredExpression 0.01 disgenet
Cutis Laxa, Autosomal Recessive AMD1P2 disease C3665335 GeneticVariation 0.01 disgenet
Cutis Laxa, Autosomal Recessive ALDH18A1 disease C3665335 Biomarker 0.01 disgenet
Cutis Laxa, Autosomal Recessive LOXL1 disease C3665335 PosttranslationalModification 0.01 disgenet
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