Disease Information |
Disease Name |
Gene Name |
Type |
UMLS |
Association Type |
Score |
Source |
Multiple Mitochondrial Dysfunctions Syndrome |
ISCA2 |
disease |
C3502075 |
GeneticVariation |
0.4 |
orphanet , disgenet |
Multiple Mitochondrial Dysfunctions Syndrome |
ISCA2 |
disease |
C3502075 |
Biomarker |
0.4 |
orphanet , disgenet |
Multiple Mitochondrial Dysfunctions Syndrome |
BOLA3 |
disease |
C3502075 |
Biomarker |
0.31 |
orphanet , disgenet |
Multiple Mitochondrial Dysfunctions Syndrome |
BOLA3 |
disease |
C3502075 |
GeneticVariation |
0.31 |
orphanet , disgenet |
Multiple Mitochondrial Dysfunctions Syndrome |
IBA57 |
disease |
C3502075 |
Biomarker |
0.3 |
orphanet , disgenet |
Multiple Mitochondrial Dysfunctions Syndrome |
NFU1 |
disease |
C3502075 |
Biomarker |
0.3 |
orphanet , disgenet |
Multiple Mitochondrial Dysfunctions Syndrome |
ISCA1 |
disease |
C3502075 |
GeneticVariation |
0.11 |
orphanet , disgenet |
Multiple Mitochondrial Dysfunctions Syndrome |
ISCA1 |
disease |
C3502075 |
CausalMutation |
0.11 |
orphanet , disgenet |
Multiple Mitochondrial Dysfunctions Syndrome |
PMPCB |
NA |
C3502075 |
NA |
NA |
orphanet |
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