Disease Information |
Disease Name |
Gene Name |
Type |
UMLS |
Association Type |
Score |
Source |
Medium-chain Acyl-CoA dehydrogenase deficiency |
ACADM |
disease |
C0220710 |
CausalMutation |
1 |
orphanet , disgenet |
Medium-chain Acyl-CoA dehydrogenase deficiency |
ACADM |
disease |
C0220710 |
Biomarker |
1 |
orphanet , disgenet |
Medium-chain Acyl-CoA dehydrogenase deficiency |
ACADM |
disease |
C0220710 |
GeneticVariation |
1 |
orphanet , disgenet |
Medium-chain Acyl-CoA dehydrogenase deficiency |
ACADM |
disease |
C0220710 |
AlteredExpression |
1 |
orphanet , disgenet |
Medium-chain Acyl-CoA dehydrogenase deficiency |
CDH15 |
disease |
C0220710 |
AlteredExpression |
0.02 |
disgenet |
Medium-chain Acyl-CoA dehydrogenase deficiency |
CDH15 |
disease |
C0220710 |
GeneticVariation |
0.02 |
disgenet |
Medium-chain Acyl-CoA dehydrogenase deficiency |
TSPO |
disease |
C0220710 |
AlteredExpression |
0.01 |
disgenet |
Medium-chain Acyl-CoA dehydrogenase deficiency |
CPT2 |
disease |
C0220710 |
GeneticVariation |
0.01 |
disgenet |
Medium-chain Acyl-CoA dehydrogenase deficiency |
KIT |
disease |
C0220710 |
GeneticVariation |
0.01 |
disgenet |
Medium-chain Acyl-CoA dehydrogenase deficiency |
CPT1B |
disease |
C0220710 |
GeneticVariation |
0.01 |
disgenet |
Medium-chain Acyl-CoA dehydrogenase deficiency |
ARSA |
disease |
C0220710 |
GeneticVariation |
0.01 |
disgenet |
Medium-chain Acyl-CoA dehydrogenase deficiency |
CHPT1 |
disease |
C0220710 |
GeneticVariation |
0.01 |
disgenet |
Medium-chain Acyl-CoA dehydrogenase deficiency |
SLC17A5 |
disease |
C0220710 |
GeneticVariation |
0.01 |
disgenet |
Medium-chain Acyl-CoA dehydrogenase deficiency |
CPT1A |
disease |
C0220710 |
GeneticVariation |
0.01 |
disgenet |
Medium-chain Acyl-CoA dehydrogenase deficiency |
CHKB-CPT1B |
disease |
C0220710 |
GeneticVariation |
0.01 |
disgenet |
Medium-chain Acyl-CoA dehydrogenase deficiency |
PART1 |
disease |
C0220710 |
Biomarker |
0.01 |
disgenet |
Medium-chain Acyl-CoA dehydrogenase deficiency |
SOCS6 |
disease |
C0220710 |
Biomarker |
0.01 |
disgenet |
Medium-chain Acyl-CoA dehydrogenase deficiency |
ACADS |
disease |
C0220710 |
Biomarker |
0.01 |
disgenet |
Medium-chain Acyl-CoA dehydrogenase deficiency |
NPHS1 |
disease |
C0220710 |
GeneticVariation |
0.01 |
disgenet |
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