Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Mandibuloacral dysplasia with type A lipodystrophy LMNA disease C0432291 GermlineCausalMutation 0.8 orphanet , disgenet
Mandibuloacral dysplasia with type A lipodystrophy LMNA disease C0432291 Biomarker 0.8 orphanet , disgenet
Mandibuloacral dysplasia with type A lipodystrophy LMNA disease C0432291 CausalMutation 0.8 orphanet , disgenet
Mandibuloacral dysplasia with type A lipodystrophy LMNA disease C0432291 GeneticVariation 0.8 orphanet , disgenet
Mandibuloacral dysplasia with type A lipodystrophy MMP9 disease C0432291 Biomarker 0.31 disgenet
Mandibuloacral dysplasia with type A lipodystrophy ZMPSTE24 disease C0432291 GeneticVariation 0.1 disgenet
Mandibuloacral dysplasia with type A lipodystrophy ZMPSTE24 disease C0432291 Biomarker 0.1 disgenet
Mandibuloacral dysplasia with type A lipodystrophy SIRT1 disease C0432291 AlteredExpression 0.01 disgenet
Mandibuloacral dysplasia with type A lipodystrophy AGPAT2 disease C0432291 Biomarker 0.01 disgenet
Mandibuloacral dysplasia with type A lipodystrophy LMNB2 disease C0432291 Biomarker 0.01 disgenet
Mandibuloacral dysplasia with type A lipodystrophy TAS2R38 disease C0432291 GeneticVariation 0.01 disgenet
Mandibuloacral dysplasia with type A lipodystrophy RET disease C0432291 GeneticVariation 0.01 disgenet
Mandibuloacral dysplasia with type A lipodystrophy AMPD1 disease C0432291 GeneticVariation 0.01 disgenet
Mandibuloacral dysplasia with type A lipodystrophy POLD1 disease C0432291 GeneticVariation 0.01 disgenet
Mandibuloacral dysplasia with type A lipodystrophy PTCH1 disease C0432291 GeneticVariation 0.01 disgenet
Mandibuloacral dysplasia with type A lipodystrophy PPARG disease C0432291 Biomarker 0.01 disgenet
Mandibuloacral dysplasia with type A lipodystrophy SUN2 disease C0432291 Biomarker 0.01 disgenet
Mandibuloacral dysplasia with type A lipodystrophy BGLAP disease C0432291 GeneticVariation 0.01 disgenet
Mandibuloacral dysplasia with type A lipodystrophy CCDC6 disease C0432291 GeneticVariation 0.01 disgenet
Mandibuloacral dysplasia with type A lipodystrophy MXD1 disease C0432291 GeneticVariation 0.01 disgenet
Mandibuloacral dysplasia with type A lipodystrophy F9 disease C0432291 GeneticVariation 0.01 disgenet
Mandibuloacral dysplasia with type A lipodystrophy MTX2 NA C0432291 NA NA orphanet
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