ACADM, acyl-CoA dehydrogenase medium chain, 34

N. diseases: 94; N. variants: 111
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Medium-chain acyl-coenzyme A dehydrogenase deficiency
1.000 Biomarker disease GENOMICS_ENGLAND
Medium-chain acyl-coenzyme A dehydrogenase deficiency
1.000 Biomarker disease CTD_human
Medium-chain acyl-coenzyme A dehydrogenase deficiency
1.000 Biomarker disease GENOMICS_ENGLAND
CUI: C0038644
Disease: Sudden infant death syndrome
Sudden infant death syndrome
0.400 Biomarker disease GENOMICS_ENGLAND
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.310 GeneticVariation disease UNIPROT
CUI: C0035410
Disease: Rhabdomyolysis
Rhabdomyolysis
0.300 Biomarker phenotype GENOMICS_ENGLAND
CUI: C0020615
Disease: Hypoglycemia
Hypoglycemia
0.160 Biomarker disease HPO
CUI: C0042963
Disease: Vomiting
Vomiting
0.110 Biomarker phenotype HPO
CUI: C0003811
Disease: Cardiac Arrhythmia
Cardiac Arrhythmia
0.100 Biomarker phenotype HPO
CUI: C0004134
Disease: Ataxia
Ataxia
0.100 Biomarker phenotype HPO
CUI: C0006114
Disease: Cerebral Edema
Cerebral Edema
0.100 Biomarker phenotype HPO
CUI: C0006625
Disease: Cachexia
Cachexia
0.100 Biomarker phenotype HPO
CUI: C0009421
Disease: Comatose
Comatose
0.100 Biomarker phenotype HPO
CUI: C0009952
Disease: Febrile Convulsions
Febrile Convulsions
0.100 Biomarker disease HPO
CUI: C0011991
Disease: Diarrhea
Diarrhea
0.100 Biomarker phenotype HPO
CUI: C0015672
Disease: Fatigue
Fatigue
0.100 Biomarker phenotype HPO
CUI: C0015695
Disease: Fatty Liver
Fatty Liver
0.100 Biomarker disease HPO
CUI: C0018800
Disease: Cardiomegaly
Cardiomegaly
0.100 Biomarker phenotype HPO
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly
0.100 Biomarker phenotype HPO
CUI: C0022638
Disease: Ketosis
Ketosis
0.100 Biomarker disease HPO
CUI: C0023380
Disease: Lethargy
Lethargy
0.100 Biomarker phenotype HPO
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
0.100 Biomarker phenotype HPO
CUI: C0026848
Disease: Myopathy
Myopathy
0.100 Biomarker group HPO
CUI: C0036572
Disease: Seizures
Seizures
0.100 Biomarker phenotype HPO
CUI: C0037763
Disease: Spasm
Spasm
0.100 Biomarker phenotype HPO