JUP, junction plakoglobin, 3728

N. diseases: 81; N. variants: 10
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.
Abnormal morphology of right ventricular trabeculae
phenotype Anatomical Abnormality 1 0.100 None 0
CUI: C0037268
Disease: Skin Abnormalities
Skin Abnormalities
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Congenital Abnormality 106 16 0.010 None 1.000 1 2010 2010
CUI: C0079153
Disease: Hyperkeratosis, Epidermolytic
Hyperkeratosis, Epidermolytic
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Congenital Abnormality 20 35 0.200 None 1.000 1 1996 1996
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 0
CUI: C0265998
Disease: ANONYCHIA
ANONYCHIA
disease Pathological Conditions, Signs and Symptoms Congenital Abnormality 30 2 0.100 None 0
CUI: C1832600
Disease: Naxos disease
Naxos disease
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Cardiovascular Diseases Disease or Syndrome 4 7 0.600 strong 1.000 5 7 2009 2017
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome 1 3 0.900 strong 1.000 4 3 2007 2017
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis
disease Cardiovascular Diseases Disease or Syndrome 2006 267 0.010 None 1.000 1 2012 2012
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis
disease Cardiovascular Diseases Disease or Syndrome 2044 281 0.010 None 1.000 1 2012 2012
CUI: C0018799
Disease: Heart Diseases
Heart Diseases
group Cardiovascular Diseases Disease or Syndrome 537 45 0.010 None 1.000 1 2011 2011
CUI: C0023895
Disease: Liver diseases
Liver diseases
group Digestive System Diseases Disease or Syndrome 1019 100 0.300 None 1.000 1 2010 2010
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
disease Nervous System Diseases Disease or Syndrome 2078 990 0.010 None 1.000 1 2013 2013
CUI: C0742343
Disease: Acute Chest Syndrome
Acute Chest Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 405 135 0.010 None 1.000 1 2012 2012
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
group Cardiovascular Diseases Disease or Syndrome 925 294 0.410 None 1.000 1 1 2011 2011
CUI: C0948089
Disease: Acute Coronary Syndrome
Acute Coronary Syndrome
disease Cardiovascular Diseases Disease or Syndrome 440 139 0.010 None 1.000 1 2012 2012
Epidermolysis bullosa, lethal acantholytic
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 2 5 0.300 None 1.000 1 2011 2011
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
disease Cardiovascular Diseases Disease or Syndrome 1708 1577 0.010 None 1.000 1 2012 2012
CUI: C4551675
Disease: Keratoderma, Palmoplantar
Keratoderma, Palmoplantar
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 165 19 0.110 None 1.000 1 2011 2011
CUI: C0000889
Disease: Acanthosis Nigricans
Acanthosis Nigricans
disease Skin and Connective Tissue Diseases Disease or Syndrome 64 11 0.100 None 0
CUI: C0002170
Disease: Alopecia
Alopecia
disease Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome 491 375 0.100 None 0
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
group Cardiovascular Diseases Disease or Syndrome 512 509 0.100 None 0
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure
disease Cardiovascular Diseases Disease or Syndrome 1760 165 0.100 None 0
CUI: C0030591
Disease: Paroxysmal ventricular tachycardia
Paroxysmal ventricular tachycardia
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 24 2 0.100 None 0
CUI: C0042514
Disease: Tachycardia, Ventricular
Tachycardia, Ventricular
disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 104 31 0.100 None 0
CUI: C0085612
Disease: Ventricular arrhythmia
Ventricular arrhythmia
disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 176 37 0.100 None 0