ACADM, acyl-CoA dehydrogenase medium chain, 34

N. diseases: 94; N. variants: 111
Source: ALL
Disease Type Disease Class Semantic Type N. genes d N. SNPs d Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
CUI: C0523677
Disease: Glycine measurement
Glycine measurement 		phenotype Laboratory Procedure 32 68 0.100 None 1.000 2 2 2019 2019
CUI: C4732730
Disease: Blood spots
Blood spots 		disease Disease or Syndrome 117 0.020 None 1.000 2 1991 2004
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		phenotype Laboratory Procedure 483 1142 0.100 None 1.000 1 1 2012 2012
CUI: C0347959
Disease: Lactic acidemia
Lactic acidemia 		phenotype Disease or Syndrome 12 0.010 None 1.000 1 2008 2008
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement 		phenotype Laboratory Procedure 269 555 0.100 None 1.000 1 1 2012 2012
CUI: C1829742
Disease: Fatty acid oxidation defects
Fatty acid oxidation defects 		group Disease or Syndrome 2 0.010 None 1.000 1 2010 2010
CUI: C2750440
Disease: FATTY LIVER DISEASE, NONALCOHOLIC, SUSCEPTIBILITY TO, 1
FATTY LIVER DISEASE, NONALCOHOLIC, SUSCEPTIBILITY TO, 1 		disease Finding 63 2 0.200 None 1.000 1 2012 2012
CUI: C2750441
Disease: LIVER DISEASE, ALCOHOLIC, SUSCEPTIBILITY TO, 1
LIVER DISEASE, ALCOHOLIC, SUSCEPTIBILITY TO, 1 		phenotype Finding 63 0.200 None 1.000 1 2012 2012
CUI: C3150651
Disease: FATTY LIVER DISEASE, NONALCOHOLIC, SUSCEPTIBILITY TO, 2
FATTY LIVER DISEASE, NONALCOHOLIC, SUSCEPTIBILITY TO, 2 		phenotype Finding 63 0.200 None 1.000 1 2012 2012
CUI: C0232744
Disease: Decreased liver function
Decreased liver function 		phenotype Finding 59 5 0.100 None 0
CUI: C0241005
Disease: Creatine phosphokinase serum increased
Creatine phosphokinase serum increased 		phenotype Finding 228 43 0.100 None 0
CUI: C0541794
Disease: Skeletal muscle atrophy
Skeletal muscle atrophy 		phenotype Pathologic Function 306 12 0.100 None 0
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease Mental or Behavioral Dysfunction 1825 553 0.100 None 0
CUI: C1142132
Disease: Carnitine deficiency
Carnitine deficiency 		phenotype Finding 15 1 0.100 None 0
CUI: C1848701
Disease: Elevated hepatic transaminase
Elevated hepatic transaminase 		phenotype Finding 212 9 0.100 None 0
CUI: C1856432
Disease: Dicarboxylic aciduria
Dicarboxylic aciduria 		phenotype Finding 8 0.100 None 0
CUI: C1860081
Disease: Medium chain dicarboxylic aciduria
Medium chain dicarboxylic aciduria 		phenotype Finding 1 0.100 None 0
CUI: C3554691
Disease: HYDROCEPHALUS, CONGENITAL, 2, WITH OR WITHOUT BRAIN OR EYE ANOMALIES
HYDROCEPHALUS, CONGENITAL, 2, WITH OR WITHOUT BRAIN OR EYE ANOMALIES 		disease Disease or Syndrome 2 5 0.100 None 0 1
CUI: C4022414
Disease: Elevated urinary 3-hydroxybutyric acid
Elevated urinary 3-hydroxybutyric acid 		phenotype Finding 1 0.100 None 0
CUI: C4022584
Disease: Fatigable weakness of neck muscles
Fatigable weakness of neck muscles 		phenotype Finding 13 0.100 None 0
CUI: C4023117
Disease: Decreased plasma total carnitine
Decreased plasma total carnitine 		phenotype Finding 2 0.100 None 0
CUI: C4073168
Disease: Abnormal lactate dehydrogenase activity
Abnormal lactate dehydrogenase activity 		phenotype Finding 19 1 0.100 None 0
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		phenotype Behavior and Behavior Mechanisms Finding 560 192 0.100 None 0
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure 		disease Cardiovascular Diseases Disease or Syndrome 1760 165 0.030 None 1.000 3 1996 2018
CUI: C0018801
Disease: Heart failure
Heart failure 		disease Cardiovascular Diseases Disease or Syndrome 1499 201 0.020 None 1.000 2 1996 1998