SCARB2, scavenger receptor class B member 2, 950

N. diseases: 103; N. variants: 28
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: C0751354
Disease: Myoclonus, Action
Myoclonus, Action
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 6 1 0.040 None 1.000 4 2014 2018
CUI: C1847164
Disease: Morning myoclonic jerks
Morning myoclonic jerks
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 11 0.100 None 0
CUI: C0400979
Disease: Obstruction of biliary tree
Obstruction of biliary tree
disease Digestive System Diseases Disease or Syndrome 12 0.100 None 0
Adult Neuronal Ceroid Lipofuscinosis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 16 9 0.010 None 1.000 1 2015 2015
CUI: C0574002
Disease: Edema of foot (finding)
Edema of foot (finding)
phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 19 0.100 None 0
CUI: C4025758
Disease: Abnormal myocardium morphology
Abnormal myocardium morphology
phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Anatomical Abnormality 19 0.100 None 0
Action Myoclonus-Renal Failure Syndrome
disease Nervous System Diseases Disease or Syndrome 20 20 0.800 None 1.000 22 20 2008 2018
CUI: C3853962
Disease: Enterovirus 71 infection
Enterovirus 71 infection
disease Infections Disease or Syndrome 21 2 0.010 None 1.000 1 2014 2014
CUI: C0020532
Disease: Hypersplenism
Hypersplenism
disease Hemic and Lymphatic Diseases Disease or Syndrome 22 0.100 None 0
CUI: C1305904
Disease: Familial hematuria
Familial hematuria
disease Disease or Syndrome 23 7 0.010 None 1.000 1 2018 2018
Compression fracture of vertebral column
phenotype Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Wounds and Injuries Pathologic Function 25 1 0.100 None 0
CUI: C0151669
Disease: Increased antibody level in blood
Increased antibody level in blood
phenotype Finding 27 0.100 None 0
CUI: C4021757
Disease: EEG with polyspike wave complexes
EEG with polyspike wave complexes
phenotype Finding 30 0.100 None 0
CUI: C0016663
Disease: Pathological fracture
Pathological fracture
phenotype Wounds and Injuries Pathologic Function 35 2 0.100 None 0
CUI: C1838681
Disease: Rapidly progressive
Rapidly progressive
phenotype Finding 38 0.100 None 0
CUI: C0085660
Disease: Aseptic necrosis
Aseptic necrosis
phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases Pathologic Function 41 0.100 None 0
CUI: C3887513
Disease: Avascular necrosis
Avascular necrosis
phenotype Pathological Conditions, Signs and Symptoms Pathologic Function 41 0.100 None 0
CUI: C4553018
Disease: Avascular Necrosis, CTCAE
Avascular Necrosis, CTCAE
phenotype Finding 41 0.100 None 0
CUI: C0751772
Disease: REM Sleep Behavior Disorder
REM Sleep Behavior Disorder
disease Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction 46 16 0.020 None 1.000 2 2015 2018
CUI: C0376532
Disease: Epilepsy, Rolandic
Epilepsy, Rolandic
disease Nervous System Diseases Disease or Syndrome 46 81 0.100 None 1.000 1 1 2018 2018
CUI: C0751778
Disease: Myoclonic Epilepsies, Progressive
Myoclonic Epilepsies, Progressive
disease Nervous System Diseases Disease or Syndrome 48 17 0.400 None 1.000 11 1 2008 2018
CUI: C0020514
Disease: Hyperprolactinemia
Hyperprolactinemia
disease Nervous System Diseases; Endocrine System Diseases Disease or Syndrome 48 10 0.010 None 1.000 1 2015 2015
CUI: C1961835
Disease: Gaucher Disease, Type 1
Gaucher Disease, Type 1
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 48 124 0.300 None 1.000 1 2011 2011
CUI: C0017565
Disease: Gingival Hemorrhage
Gingival Hemorrhage
phenotype Pathological Conditions, Signs and Symptoms; Stomatognathic Diseases Pathologic Function 50 2 0.100 None 0
CUI: C0751785
Disease: Unverricht-Lundborg Syndrome
Unverricht-Lundborg Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 56 17 0.390 None 1.000 9 2008 2018