GCDH, glutaryl-CoA dehydrogenase, 2639

N. diseases: 72; N. variants: 121
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: C0268595
Disease: Glutaric aciduria, type 1
Glutaric aciduria, type 1
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 5 112 1.000 definitive 1.000 123 111 1988 2020
CUI: C0013421
Disease: Dystonia
Dystonia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 453 97 0.430 None 1.000 5 1 1995 2015
CUI: C0013384
Disease: Dyskinetic syndrome
Dyskinetic syndrome
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 316 42 0.120 None 1.000 2 2000 2004
CUI: C0268594
Disease: Glutaric aciduria
Glutaric aciduria
phenotype Disease or Syndrome 8 0.110 None 1.000 1 1978 1978
Finding of Mean Corpuscular Hemoglobin
phenotype Finding 653 1206 0.100 None 1.000 3 5 2012 2016
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement
phenotype Laboratory Procedure 717 1599 0.100 None 1.000 2 7 2009 2018
CUI: C1314691
Disease: Age at menarche
Age at menarche
phenotype Behavior and Behavior Mechanisms Finding 267 591 0.100 None 1.000 1 1 2019 2019
CUI: C0524587
Disease: Mean Corpuscular Volume (result)
Mean Corpuscular Volume (result)
phenotype Laboratory or Test Result 269 549 0.100 None 1.000 1 3 2016 2016
RDW - Red blood cell distribution width result
phenotype Laboratory or Test Result 593 988 0.100 None 1.000 1 1 2019 2019
Red cell distribution width determination
phenotype Laboratory Procedure 593 988 0.100 None 1.000 1 1 2019 2019
Corpuscular Hemoglobin Concentration Mean
phenotype Laboratory or Test Result 401 4389 0.100 None 1.000 1 6 2012 2012
CUI: C0456132
Disease: Large fontanelle
Large fontanelle
phenotype Finding 77 3 0.100 None 0
CUI: C1277241
Disease: Delayed myelination
Delayed myelination
phenotype Mental Disorders Finding 112 6 0.100 None 0
CUI: C0338656
Disease: Impaired cognition
Impaired cognition
disease Mental Disorders Mental or Behavioral Dysfunction 1630 348 0.100 None 0
CUI: C0917798
Disease: Cerebral Ischemia
Cerebral Ischemia
disease Nervous System Diseases; Cardiovascular Diseases Pathologic Function 120 2 0.100 None 0
CUI: C0575081
Disease: Gait abnormality
Gait abnormality
group Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 312 23 0.100 None 0
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease Mental or Behavioral Dysfunction 1825 553 0.100 None 0 2
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies
phenotype Finding 271 106 0.100 None 0
CUI: C0497202
Disease: Abnormal ocular motility
Abnormal ocular motility
phenotype Finding 45 6 0.100 None 0
CUI: C4552810
Disease: Irritability, CTCAE
Irritability, CTCAE
phenotype Finding 140 0.100 None 0
CUI: C4553743
Disease: Spasticity, CTCAE
Spasticity, CTCAE
phenotype Finding 477 0.100 None 0
CUI: C4551915
Disease: Gait Disturbance, CTCAE
Gait Disturbance, CTCAE
phenotype Finding 299 0.100 None 0
CUI: C4025603
Disease: Glutaric acidemia
Glutaric acidemia
phenotype Nutritional and Metabolic Diseases Finding 5 0.100 None 0
Symmetrical progressive peripheral demyelination
disease Disease or Syndrome 1 0.100 None 0
Abnormality of acetylcarnitine metabolism
phenotype Finding 1 1 0.100 None 0 1