CAV2, caveolin 2, 858

N. diseases: 96; N. variants: 14
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: C0271148
Disease: Secondary Open Angle Glaucoma
Secondary Open Angle Glaucoma
disease Eye Diseases Disease or Syndrome 13 0.300 None 1.000 1 2010 2010
CUI: C0936250
Disease: Eczema Herpeticum
Eczema Herpeticum
disease Infections; Skin and Connective Tissue Diseases Disease or Syndrome 21 4 0.010 None 1.000 1 2015 2015
CUI: C0034072
Disease: Cor pulmonale
Cor pulmonale
disease Cardiovascular Diseases Disease or Syndrome 25 2 0.010 None 1.000 1 2017 2017
CUI: C4281559
Disease: FRONTOMETAPHYSEAL DYSPLASIA 1
FRONTOMETAPHYSEAL DYSPLASIA 1
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 28 3 0.010 None 1.000 1 2018 2018
CUI: C1531624
Disease: Cardioembolic stroke
Cardioembolic stroke
disease Disease or Syndrome 42 28 0.100 None 1.000 1 1 2018 2018
CUI: C0016052
Disease: Fibromuscular Dysplasia
Fibromuscular Dysplasia
disease Cardiovascular Diseases Disease or Syndrome 47 3 0.010 None 1.000 1 2018 2018
CUI: C0276275
Disease: Disease due to Parvoviridae
Disease due to Parvoviridae
disease Infections Disease or Syndrome 71 2 0.010 None 1.000 1 2018 2018
CUI: C0152136
Disease: Low Tension Glaucoma
Low Tension Glaucoma
disease Eye Diseases Disease or Syndrome 103 56 0.020 None 1.000 2 1 2013 2017
CUI: C0151718
Disease: Hypocholesterolemia
Hypocholesterolemia
disease Nutritional and Metabolic Diseases Disease or Syndrome 113 22 0.010 None 1.000 1 2001 2001
CUI: C0085078
Disease: Lysosomal Storage Diseases
Lysosomal Storage Diseases
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 130 8 0.020 None 1.000 2 2004 2014
CUI: C0017612
Disease: Glaucoma, Open-Angle
Glaucoma, Open-Angle
disease Eye Diseases Disease or Syndrome 130 236 0.400 None 1.000 1 1 2010 2010
CUI: C0023892
Disease: Biliary cirrhosis
Biliary cirrhosis
disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases Disease or Syndrome 132 36 0.010 None 1.000 1 2005 2005
Muscular Dystrophy, Facioscapulohumeral
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 143 3 0.010 None 1.000 1 2018 2018
CUI: C0278608
Disease: Adult Liposarcoma
Adult Liposarcoma
disease Neoplasms Neoplastic Process 143 6 0.010 None 1.000 1 2016 2016
CUI: C0279984
Disease: Childhood Liposarcoma
Childhood Liposarcoma
disease Neoplasms Neoplastic Process 143 6 0.010 None 1.000 1 2016 2016
CUI: C0012546
Disease: Diphtheria
Diphtheria
disease Infections Disease or Syndrome 147 0.010 None 1.000 1 2017 2017
CUI: C2585653
Disease: Persistent atrial fibrillation
Persistent atrial fibrillation
phenotype Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Pathologic Function 156 0.300 None 1.000 1 2010 2010
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 2010 2010
CUI: C0027868
Disease: Neuromuscular Diseases
Neuromuscular Diseases
group Nervous System Diseases Disease or Syndrome 171 50 0.010 None 1.000 1 2018 2018
CUI: C0042345
Disease: Varicosity
Varicosity
disease Cardiovascular Diseases Disease or Syndrome 188 51 0.010 None < 0.001 1 2019 2019
CUI: C1527349
Disease: Ductal Breast Carcinoma
Ductal Breast Carcinoma
disease Neoplasms Neoplastic Process 196 10 0.010 None 1.000 1 2016 2016
CUI: C0023827
Disease: liposarcoma
liposarcoma
disease Neoplasms Neoplastic Process 200 6 0.010 None 1.000 1 2016 2016
CUI: C0276447
Disease: Rhinovirus infection
Rhinovirus infection
disease Infections Disease or Syndrome 202 4 0.010 None 1.000 1 2011 2011
CUI: C0040420
Disease: Tonometry
Tonometry
phenotype Diagnostic Procedure 206 573 0.100 None 1.000 1 1 2018 2018
CUI: C0235480
Disease: Paroxysmal atrial fibrillation
Paroxysmal atrial fibrillation
disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 226 8 0.300 None 1.000 1 2010 2010