ACADS, acyl-CoA dehydrogenase short chain, 35

N. diseases: 56; N. variants: 55
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: C0948089
Disease: Acute Coronary Syndrome
Acute Coronary Syndrome
disease Cardiovascular Diseases Disease or Syndrome 440 139 0.010 None 1.000 1 2017 2017
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder
disease Mental Disorders Mental or Behavioral Dysfunction 1183 839 0.300 None 1.000 1 2014 2014
CUI: C4732730
Disease: Blood spots
Blood spots
disease Disease or Syndrome 117 0.010 None < 0.001 1 2005 2005
CUI: C0741933
Disease: cardiac symptom
cardiac symptom
phenotype Sign or Symptom 9 2 0.010 None 1.000 1 2017 2017
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
group Cardiovascular Diseases Disease or Syndrome 925 294 0.100 None 0
CUI: C1561643
Disease: Chronic Kidney Diseases
Chronic Kidney Diseases
group Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 1074 306 0.100 None 1.000 1 2 2018 2018
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure
disease Cardiovascular Diseases Disease or Syndrome 1760 165 0.310 None 1.000 2 2018 2019
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis
disease Cardiovascular Diseases Disease or Syndrome 1282 440 0.010 None 1.000 1 2018 2018
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
disease Cardiovascular Diseases Disease or Syndrome 1708 1577 0.010 None 1.000 1 2018 2018
Coronary Artery Dissection, Spontaneous
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome 11 0.010 None 1.000 1 2017 2017
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease
disease Cardiovascular Diseases Disease or Syndrome 1576 1178 0.010 None 1.000 1 2018 2018
Corpuscular Hemoglobin Concentration Mean
phenotype Laboratory or Test Result 401 4389 0.100 None 1.000 1 5 2012 2012
Deficiency of butyryl-CoA dehydrogenase
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 21 47 1.000 definitive 1.000 51 43 1989 2018
Delayed speech and language development
phenotype Behavior and Behavior Mechanisms Finding 560 192 0.100 None 0
CUI: C0014544
Disease: Epilepsy
Epilepsy
disease Nervous System Diseases Disease or Syndrome 1215 339 0.010 None 1.000 1 1 2011 2011
CUI: C1859516
Disease: Episodic metabolic acidosis
Episodic metabolic acidosis
phenotype Nutritional and Metabolic Diseases Finding 5 3 0.100 None 0
CUI: C0014742
Disease: Erythema Multiforme
Erythema Multiforme
disease Skin and Connective Tissue Diseases Disease or Syndrome 38 2 0.010 None 1.000 1 2017 2017
CUI: C1865353
Disease: Ethylmalonic aciduria
Ethylmalonic aciduria
phenotype Finding 6 0.100 None 0
CUI: C0015469
Disease: Facial paralysis
Facial paralysis
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Stomatognathic Diseases Disease or Syndrome 182 3 0.100 None 0
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive
disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 842 10 0.110 None 1.000 1 1997 1997
CUI: C3887638
Disease: Failure to thrive in infant
Failure to thrive in infant
disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 81 4 0.010 None 1.000 1 1997 1997
CUI: C2674608
Disease: Feeding difficulties in infancy
Feeding difficulties in infancy
phenotype Finding 305 22 0.100 None 0
CUI: C0333068
Disease: Flexion contracture
Flexion contracture
disease Musculoskeletal Diseases Finding 210 32 0.100 None 0
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 955 164 0.100 None 0
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease Mental or Behavioral Dysfunction 1825 553 0.100 None 0