Disease Information |
Disease Name |
Gene Name |
Type |
UMLS |
Association Type |
Score |
Source |
Farber Lipogranulomatosis |
ASAH1 |
disease |
C0268255 |
AlteredExpression |
1 |
orphanet , disgenet |
Farber Lipogranulomatosis |
ASAH1 |
disease |
C0268255 |
GeneticVariation |
1 |
orphanet , disgenet |
Farber Lipogranulomatosis |
ASAH1 |
disease |
C0268255 |
Biomarker |
1 |
orphanet , disgenet |
Farber Lipogranulomatosis |
ASAH1 |
disease |
C0268255 |
CausalMutation |
1 |
orphanet , disgenet |
Farber Lipogranulomatosis |
ASAH1 |
disease |
C0268255 |
GermlineCausalMutation |
1 |
orphanet , disgenet |
Farber Lipogranulomatosis |
SOD2 |
disease |
C0268255 |
AlteredExpression |
0.31 |
disgenet |
Farber Lipogranulomatosis |
SOD2 |
disease |
C0268255 |
Biomarker |
0.31 |
disgenet |
Farber Lipogranulomatosis |
SMPD1 |
disease |
C0268255 |
Biomarker |
0.02 |
disgenet |
Farber Lipogranulomatosis |
PSAP |
disease |
C0268255 |
Biomarker |
0.01 |
disgenet |
Farber Lipogranulomatosis |
NLRP3 |
disease |
C0268255 |
AlteredExpression |
0.01 |
disgenet |
Farber Lipogranulomatosis |
CCL2 |
disease |
C0268255 |
Biomarker |
0.01 |
disgenet |
Farber Lipogranulomatosis |
GALC |
disease |
C0268255 |
GeneticVariation |
0.01 |
disgenet |
Farber Lipogranulomatosis |
ACER3 |
NA |
C0268255 |
NA |
NA |
orphanet |
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