Disease Information |
Disease Name |
Gene Name |
Type |
UMLS |
Association Type |
Score |
Source |
Carnitine-Acylcarnitine Translocase Deficiency |
SLC25A20 |
disease |
C0342791 |
CausalMutation |
0.77 |
orphanet , disgenet |
Carnitine-Acylcarnitine Translocase Deficiency |
SLC25A20 |
disease |
C0342791 |
GermlineCausalMutation |
0.77 |
orphanet , disgenet |
Carnitine-Acylcarnitine Translocase Deficiency |
SLC25A20 |
disease |
C0342791 |
GeneticVariation |
0.77 |
orphanet , disgenet |
Carnitine-Acylcarnitine Translocase Deficiency |
SLC25A20 |
disease |
C0342791 |
Biomarker |
0.77 |
orphanet , disgenet |
Carnitine-Acylcarnitine Translocase Deficiency |
MCAT |
disease |
C0342791 |
Biomarker |
0.01 |
disgenet |
Carnitine-Acylcarnitine Translocase Deficiency |
HADHA |
disease |
C0342791 |
Biomarker |
0.01 |
disgenet |
Carnitine-Acylcarnitine Translocase Deficiency |
NCOA3 |
disease |
C0342791 |
Biomarker |
0.01 |
disgenet |
Carnitine-Acylcarnitine Translocase Deficiency |
IDS |
disease |
C0342791 |
Biomarker |
0.01 |
disgenet |
Carnitine-Acylcarnitine Translocase Deficiency |
MCPH1 |
disease |
C0342791 |
Biomarker |
0.01 |
disgenet |
Carnitine-Acylcarnitine Translocase Deficiency |
SLC16A1 |
disease |
C0342791 |
Biomarker |
0.01 |
disgenet |
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