Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Congenital Generalized Lipodystrophies BSCL2 disease C0221032 Biomarker 0.7 orphanet , disgenet
Congenital Generalized Lipodystrophies BSCL2 disease C0221032 CausalMutation 0.7 orphanet , disgenet
Congenital Generalized Lipodystrophies BSCL2 disease C0221032 GeneticVariation 0.7 orphanet , disgenet
Congenital Generalized Lipodystrophies AGPAT2 disease C0221032 GeneticVariation 0.5 orphanet , disgenet
Congenital Generalized Lipodystrophies AGPAT2 disease C0221032 Biomarker 0.5 orphanet , disgenet
Congenital Generalized Lipodystrophies AGPAT2 disease C0221032 CausalMutation 0.5 orphanet , disgenet
Congenital Generalized Lipodystrophies AGPAT2 disease C0221032 AlteredExpression 0.5 orphanet , disgenet
Congenital Generalized Lipodystrophies CAV1 disease C0221032 Biomarker 0.46 orphanet , disgenet
Congenital Generalized Lipodystrophies CAV1 disease C0221032 GermlineCausalMutation 0.46 orphanet , disgenet
Congenital Generalized Lipodystrophies CAV1 disease C0221032 GeneticVariation 0.46 orphanet , disgenet
Congenital Generalized Lipodystrophies CAVIN1 disease C0221032 GermlineCausalMutation 0.4 orphanet , disgenet
Congenital Generalized Lipodystrophies CAVIN1 disease C0221032 Biomarker 0.4 orphanet , disgenet
Congenital Generalized Lipodystrophies CAVIN1 disease C0221032 GeneticVariation 0.4 orphanet , disgenet
Congenital Generalized Lipodystrophies PPARG disease C0221032 GeneticVariation 0.32 orphanet , disgenet
Congenital Generalized Lipodystrophies PPARG disease C0221032 GermlineCausalMutation 0.32 orphanet , disgenet
Congenital Generalized Lipodystrophies FOS disease C0221032 GeneticVariation 0.31 orphanet , disgenet
Congenital Generalized Lipodystrophies FOS disease C0221032 GermlineCausalMutation 0.31 orphanet , disgenet
Congenital Generalized Lipodystrophies LMNA disease C0221032 GeneticVariation 0.19 disgenet
Congenital Generalized Lipodystrophies LMNA disease C0221032 Biomarker 0.19 disgenet
Congenital Generalized Lipodystrophies ZMPSTE24 disease C0221032 GeneticVariation 0.13 disgenet
Congenital Generalized Lipodystrophies ZMPSTE24 disease C0221032 Biomarker 0.13 disgenet
Congenital Generalized Lipodystrophies LEP disease C0221032 Biomarker 0.1 disgenet
Congenital Generalized Lipodystrophies LEP disease C0221032 AlteredExpression 0.1 disgenet
Congenital Generalized Lipodystrophies POLR3A disease C0221032 Biomarker 0.1 disgenet
Congenital Generalized Lipodystrophies HNRNPUL2-BSCL2 disease C0221032 CausalMutation 0.1 disgenet
Congenital Generalized Lipodystrophies KCNJ6 disease C0221032 Biomarker 0.1 disgenet
Congenital Generalized Lipodystrophies INSR disease C0221032 Biomarker 0.04 disgenet
Congenital Generalized Lipodystrophies GZMH disease C0221032 GeneticVariation 0.04 disgenet
Congenital Generalized Lipodystrophies INSR disease C0221032 GeneticVariation 0.04 disgenet
Congenital Generalized Lipodystrophies GZMH disease C0221032 Biomarker 0.04 disgenet
Congenital Generalized Lipodystrophies FBN1 disease C0221032 GeneticVariation 0.04 disgenet
Congenital Generalized Lipodystrophies GARS1 disease C0221032 GeneticVariation 0.02 disgenet
Congenital Generalized Lipodystrophies ADIPOQ disease C0221032 Biomarker 0.02 disgenet
Congenital Generalized Lipodystrophies ADIPOQ disease C0221032 GeneticVariation 0.02 disgenet
Congenital Generalized Lipodystrophies AGPAT1 disease C0221032 Biomarker 0.02 disgenet
Congenital Generalized Lipodystrophies AGPAT1 disease C0221032 AlteredExpression 0.02 disgenet
Congenital Generalized Lipodystrophies PDE3B disease C0221032 GeneticVariation 0.01 disgenet
Congenital Generalized Lipodystrophies NOX1 disease C0221032 Biomarker 0.01 disgenet
Congenital Generalized Lipodystrophies AGL disease C0221032 GeneticVariation 0.01 disgenet
Congenital Generalized Lipodystrophies MUC1 disease C0221032 Biomarker 0.01 disgenet
Congenital Generalized Lipodystrophies DMD disease C0221032 Biomarker 0.01 disgenet
Congenital Generalized Lipodystrophies MFAP1 disease C0221032 AlteredExpression 0.01 disgenet
Congenital Generalized Lipodystrophies GART disease C0221032 GeneticVariation 0.01 disgenet
Congenital Generalized Lipodystrophies HIF1A disease C0221032 AlteredExpression 0.01 disgenet
Congenital Generalized Lipodystrophies SLC2A2 disease C0221032 GeneticVariation 0.01 disgenet
Congenital Generalized Lipodystrophies GZMB disease C0221032 GeneticVariation 0.01 disgenet
Congenital Generalized Lipodystrophies LPIN1 disease C0221032 GeneticVariation 0.01 disgenet
Congenital Generalized Lipodystrophies AIFM1 disease C0221032 GeneticVariation 0.01 disgenet
Congenital Generalized Lipodystrophies SOST disease C0221032 Biomarker 0.01 disgenet
Congenital Generalized Lipodystrophies ACAT1 disease C0221032 AlteredExpression 0.01 disgenet
Congenital Generalized Lipodystrophies MAT1A disease C0221032 AlteredExpression 0.01 disgenet
Congenital Generalized Lipodystrophies SNAP23 disease C0221032 Biomarker 0.01 disgenet
Congenital Generalized Lipodystrophies EMD disease C0221032 Biomarker 0.01 disgenet
Congenital Generalized Lipodystrophies APRT disease C0221032 AlteredExpression 0.01 disgenet
Congenital Generalized Lipodystrophies LPIN2 disease C0221032 GeneticVariation 0.01 disgenet
Congenital Generalized Lipodystrophies GH1 disease C0221032 GeneticVariation 0.01 disgenet
Congenital Generalized Lipodystrophies HNF4A disease C0221032 GeneticVariation 0.01 disgenet
Congenital Generalized Lipodystrophies CAV3 disease C0221032 GeneticVariation 0.01 disgenet
Congenital Generalized Lipodystrophies PLIN1 disease C0221032 Biomarker 0.01 disgenet
Congenital Generalized Lipodystrophies ETFA disease C0221032 Biomarker 0.01 disgenet
Congenital Generalized Lipodystrophies ANGPTL3 disease C0221032 Biomarker 0.01 disgenet
Congenital Generalized Lipodystrophies PCYT1A disease C0221032 GeneticVariation 0.01 disgenet
Congenital Generalized Lipodystrophies SETD2 disease C0221032 AlteredExpression 0.01 disgenet
Congenital Generalized Lipodystrophies BEST1 disease C0221032 Biomarker 0.01 disgenet
Congenital Generalized Lipodystrophies SETX disease C0221032 Biomarker 0.01 disgenet
Congenital Generalized Lipodystrophies GCG disease C0221032 AlteredExpression 0.01 disgenet
Congenital Generalized Lipodystrophies ADRB3 disease C0221032 GeneticVariation 0.01 disgenet
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