PCCB, propionyl-CoA carboxylase subunit beta, 5096

N. diseases: 57; N. variants: 71
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: C0268579
Disease: Propionic acidemia
Propionic acidemia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 17 124 0.800 None 1.000 58 63 1990 2019
CUI: C2717876
Disease: Propionicaciduria
Propionicaciduria 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 2 0.500 strong 1.000 1 2016 2016
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic 		disease Cardiovascular Diseases Disease or Syndrome 773 243 0.310 strong 1.000 2 2016 2017
CUI: C0005890
Disease: Body Height
Body Height 		phenotype Organism Attribute 1903 3972 0.100 None 1.000 2 2 2010 2017
CUI: C0489786
Disease: Height
Height 		phenotype Organism Attribute 249 517 0.100 None 1.000 2 1 2010 2011
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		phenotype Laboratory Procedure 545 1440 0.100 None 1.000 1 1 2015 2015
CUI: C0344395
Disease: Bilirubin measurement
Bilirubin measurement 		phenotype Laboratory Procedure 56 535 0.100 None 1.000 1 1 2018 2018
CUI: C0337428
Disease: Fibrinogen assay
Fibrinogen assay 		phenotype Laboratory Procedure 55 143 0.100 None 1.000 1 1 2017 2017
CUI: C0003467
Disease: Anxiety
Anxiety 		disease Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 1048 287 0.100 None 1.000 1 2 2018 2018
CUI: C0424574
Disease: Duration of sleep
Duration of sleep 		phenotype Finding 104 203 0.100 None 1.000 1 1 2019 2019
CUI: C0029456
Disease: Osteoporosis
Osteoporosis 		disease Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome 1098 182 0.100 None 0
CUI: C0268559
Disease: Hyperglycinemia
Hyperglycinemia 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 14 0.100 None 0
CUI: C0241775
Disease: Organic aciduria
Organic aciduria 		phenotype Finding 12 1 0.100 None 0
CUI: C0349588
Disease: Short stature
Short stature 		phenotype Finding 1127 292 0.100 None 0
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 454 44 0.100 None 0
CUI: C0424230
Disease: Motor retardation
Motor retardation 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms Finding 98 8 0.100 None 0
CUI: C0232462
Disease: Decrease in appetite
Decrease in appetite 		phenotype Digestive System Diseases; Nervous System Diseases; Mental Disorders Sign or Symptom 62 7 0.100 None 0
CUI: C0543541
Disease: HYPERGLYCINURIA (disorder)
HYPERGLYCINURIA (disorder) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 14 3 0.100 None 0
CUI: C4703632
Disease: Increased level of hippuric acid in urine
Increased level of hippuric acid in urine 		phenotype Finding 7 0.100 None 0
CUI: C4023616
Disease: Abnormality of immune system physiology
Abnormality of immune system physiology 		phenotype Pathologic Function 42 1 0.100 None 0
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		group Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 2165 159 0.100 None 0
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		phenotype Finding 1010 0.100 None 0
CUI: C2674608
Disease: Feeding difficulties in infancy
Feeding difficulties in infancy 		phenotype Finding 305 22 0.100 None 0
CUI: C1853743
Disease: Muscular hypotonia of the trunk
Muscular hypotonia of the trunk 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 156 25 0.100 None 0
CUI: C1838391
Disease: Limb hypertonia
Limb hypertonia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 77 12 0.100 None 0