GOSR2, golgi SNAP receptor complex member 2, 9570

N. diseases: 55; N. variants: 15
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: C1306620
Disease: Systolic blood pressure measurement
Systolic blood pressure measurement
phenotype Diagnostic Procedure 54 95 0.100 None 1.000 1 1 2011 2011
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction
disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 1800 680 0.010 None 1.000 1 2 2013 2013
CUI: C1857276
Disease: Trichohepatoenteric Syndrome
Trichohepatoenteric Syndrome
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases Disease or Syndrome 424 28 0.010 None 1.000 1 2013 2013
CUI: C0085580
Disease: Essential Hypertension
Essential Hypertension
disease Cardiovascular Diseases Disease or Syndrome 445 293 0.010 None 1.000 1 2 2013 2013
CUI: C0027066
Disease: Myoclonus
Myoclonus
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 265 34 0.110 None 1.000 1 1 2014 2014
CUI: C0007761
Disease: Myoclonic Cerebellar Dyssynergia
Myoclonic Cerebellar Dyssynergia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 1 0.010 None 1.000 1 2014 2014
CUI: C1834580
Disease: MYOCLONUS AND ATAXIA
MYOCLONUS AND ATAXIA
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 1 0.010 None 1.000 1 2014 2014
CUI: C0017409
Disease: Herpes Zoster Oticus
Herpes Zoster Oticus
disease Infections; Nervous System Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 1 0.010 None 1.000 1 2014 2014
CUI: C0393525
Disease: Progressive cerebellar ataxia
Progressive cerebellar ataxia
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 136 23 0.010 None 1.000 1 1 2014 2014
CUI: C4273131
Disease: Branchiootic syndrome
Branchiootic syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 6 0.010 None 1.000 1 2014 2014
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
group Nervous System Diseases Disease or Syndrome 362 247 0.010 None 1.000 1 2014 2014
CUI: C0429097
Disease: QRS complex feature
QRS complex feature
phenotype Finding 41 69 0.100 None 1.000 1 1 2016 2016
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 0.040 None 1.000 4 2017 2019
CUI: C0008925
Disease: Cleft Palate
Cleft Palate
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Congenital Abnormality 611 158 0.100 None 1.000 2 2 2017 2017
CUI: C0008924
Disease: Cleft upper lip
Cleft upper lip
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Congenital Abnormality 255 282 0.100 None 1.000 2 2 2017 2017
CUI: C3266262
Disease: Multiple Chronic Conditions
Multiple Chronic Conditions
disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 929 42 0.010 None 1.000 1 2017 2017
CUI: C0006272
Disease: Bronchiolitis Obliterans
Bronchiolitis Obliterans
disease Respiratory Tract Diseases Disease or Syndrome 93 5 0.010 None 1.000 1 2017 2017
CUI: C4021813
Disease: Oral cleft
Oral cleft
disease Congenital Abnormality 85 28 0.100 None 1.000 1 1 2017 2017
CUI: C0424295
Disease: Hyperactive behavior
Hyperactive behavior
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Mental or Behavioral Dysfunction 1263 112 0.010 None 1.000 1 2017 2017
CUI: C0005845
Disease: Blood urea nitrogen measurement
Blood urea nitrogen measurement
phenotype Laboratory Procedure 90 174 0.100 None 1.000 2 2 2018 2019
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation
disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 939 584 0.400 None 1.000 1 1 2018 2018
CUI: C3468561
Disease: familial atrial fibrillation
familial atrial fibrillation
phenotype Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Pathologic Function 157 1 0.300 None 1.000 1 2018 2018
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
disease Cardiovascular Diseases Disease or Syndrome 1708 1577 0.100 None 1.000 1 3 2018 2018
Congenital muscular dystrophy (disorder)
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 54 20 0.010 None 1.000 1 2018 2018
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 280 67 0.010 None 1.000 1 2018 2018