Source: INFERRED

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 34
Gene Symbol: ACADM
ACADM
acyl-CoA dehydrogenase medium chain 0.638 0.462 2.1E-12
Abnormal lactate dehydrogenase activity
phenotype 0.100 None 0 0
Entrez Id: 34
Gene Symbol: ACADM
ACADM
acyl-CoA dehydrogenase medium chain 0.638 0.462 2.1E-12
CUI: C0543541
Disease: HYPERGLYCINURIA (disorder)
HYPERGLYCINURIA (disorder)
disease 0.100 None 0 0
Entrez Id: 34
Gene Symbol: ACADM
ACADM
acyl-CoA dehydrogenase medium chain 0.638 0.462 2.1E-12
CUI: C0541794
Disease: Skeletal muscle atrophy
Skeletal muscle atrophy
phenotype 0.100 None 0 0
Entrez Id: 34
Gene Symbol: ACADM
ACADM
acyl-CoA dehydrogenase medium chain 0.638 0.462 2.1E-12
CUI: C0494475
Disease: Tonic - clonic seizures
Tonic - clonic seizures
disease 0.100 None 0 0
Entrez Id: 34
Gene Symbol: ACADM
ACADM
acyl-CoA dehydrogenase medium chain 0.638 0.462 2.1E-12
Delayed speech and language development
phenotype 0.100 None 0 0
Entrez Id: 34
Gene Symbol: ACADM
ACADM
acyl-CoA dehydrogenase medium chain 0.638 0.462 2.1E-12
CUI: C0265213
Disease: Distal arthrogryposis syndrome
Distal arthrogryposis syndrome
disease 0.100 None 0 0
Entrez Id: 34
Gene Symbol: ACADM
ACADM
acyl-CoA dehydrogenase medium chain 0.638 0.462 2.1E-12
Creatine phosphokinase serum increased
phenotype 0.100 None 0 0
Entrez Id: 34
Gene Symbol: ACADM
ACADM
acyl-CoA dehydrogenase medium chain 0.638 0.462 2.1E-12
CUI: C0232744
Disease: Decreased liver function
Decreased liver function
phenotype 0.100 None 0 0
Entrez Id: 34
Gene Symbol: ACADM
ACADM
acyl-CoA dehydrogenase medium chain 0.638 0.462 2.1E-12
CUI: C0231807
Disease: Dyspnea on exertion
Dyspnea on exertion
phenotype 0.100 None 0 0
Entrez Id: 34
Gene Symbol: ACADM
ACADM
acyl-CoA dehydrogenase medium chain 0.638 0.462 2.1E-12
CUI: C0221629
Disease: Proximal muscle weakness
Proximal muscle weakness
phenotype 0.100 None 0 0
Entrez Id: 34
Gene Symbol: ACADM
ACADM
acyl-CoA dehydrogenase medium chain 0.638 0.462 2.1E-12
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.100 None 0 0
Entrez Id: 34
Gene Symbol: ACADM
ACADM
acyl-CoA dehydrogenase medium chain 0.638 0.462 2.1E-12
CUI: C1142132
Disease: Carnitine deficiency
Carnitine deficiency
phenotype 0.100 None 0 0
Entrez Id: 34
Gene Symbol: ACADM
ACADM
acyl-CoA dehydrogenase medium chain 0.638 0.462 2.1E-12
CUI: C1848701
Disease: Elevated hepatic transaminase
Elevated hepatic transaminase
phenotype 0.100 None 0 0
Entrez Id: 34
Gene Symbol: ACADM
ACADM
acyl-CoA dehydrogenase medium chain 0.638 0.462 2.1E-12
CUI: C4023117
Disease: Decreased plasma total carnitine
Decreased plasma total carnitine
phenotype 0.100 None 0 0
Entrez Id: 34
Gene Symbol: ACADM
ACADM
acyl-CoA dehydrogenase medium chain 0.638 0.462 2.1E-12
CUI: C4022584
Disease: Fatigable weakness of neck muscles
Fatigable weakness of neck muscles
phenotype 0.100 None 0 0
Entrez Id: 34
Gene Symbol: ACADM
ACADM
acyl-CoA dehydrogenase medium chain 0.638 0.462 2.1E-12
Elevated urinary 3-hydroxybutyric acid
phenotype 0.100 None 0 0
Entrez Id: 34
Gene Symbol: ACADM
ACADM
acyl-CoA dehydrogenase medium chain 0.638 0.462 2.1E-12
CUI: C2711227
Disease: Steatohepatitis
Steatohepatitis
disease 0.100 None 0 0
Entrez Id: 34
Gene Symbol: ACADM
ACADM
acyl-CoA dehydrogenase medium chain 0.638 0.462 2.1E-12
CUI: C1866934
Disease: Reduced tendon reflexes
Reduced tendon reflexes
phenotype 0.100 None 0 0
Entrez Id: 34
Gene Symbol: ACADM
ACADM
acyl-CoA dehydrogenase medium chain 0.638 0.462 2.1E-12
CUI: C1860081
Disease: Medium chain dicarboxylic aciduria
Medium chain dicarboxylic aciduria
phenotype 0.100 None 0 0
Entrez Id: 34
Gene Symbol: ACADM
ACADM
acyl-CoA dehydrogenase medium chain 0.638 0.462 2.1E-12
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
phenotype 0.100 None 0 0
Entrez Id: 34
Gene Symbol: ACADM
ACADM
acyl-CoA dehydrogenase medium chain 0.638 0.462 2.1E-12
CUI: C1856432
Disease: Dicarboxylic aciduria
Dicarboxylic aciduria
phenotype 0.100 None 0 0
Entrez Id: 34
Gene Symbol: ACADM
ACADM
acyl-CoA dehydrogenase medium chain 0.638 0.462 2.1E-12
CUI: C1850830
Disease: Exercise-induced myalgia
Exercise-induced myalgia
phenotype 0.100 None 0 0
Entrez Id: 34
Gene Symbol: ACADM
ACADM
acyl-CoA dehydrogenase medium chain 0.638 0.462 2.1E-12
CUI: C0221355
Disease: Macrocephaly
Macrocephaly
disease 0.100 None 0 0
Entrez Id: 34
Gene Symbol: ACADM
ACADM
acyl-CoA dehydrogenase medium chain 0.638 0.462 2.1E-12
CUI: C0220994
Disease: Hyperammonemia
Hyperammonemia
phenotype 0.100 None 0 0
Entrez Id: 34
Gene Symbol: ACADM
ACADM
acyl-CoA dehydrogenase medium chain 0.638 0.462 2.1E-12
CUI: C0220981
Disease: Metabolic acidosis
Metabolic acidosis
phenotype 0.100 None 0 0