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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