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.
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: 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
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
group Cardiovascular Diseases Disease or Syndrome 925 294 0.410 None 1.000 1 1 2011 2011
CUI: C0033578
Disease: Prostatic Neoplasms
Prostatic Neoplasms
group Neoplasms; Male Urogenital Diseases Neoplastic Process 1722 31 0.310 None 1.000 2 2005 2007
CUI: C0232347
Disease: No-Reflow Phenomenon
No-Reflow Phenomenon
phenotype Pathological Conditions, Signs and Symptoms Finding 3 0.300 None 1.000 1 2007 2007
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: C0023895
Disease: Liver diseases
Liver diseases
group Digestive System Diseases Disease or Syndrome 1019 100 0.300 None 1.000 1 2010 2010
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate
disease Neoplasms; Male Urogenital Diseases Neoplastic Process 4502 1082 0.300 None 1.000 1 2007 2007
CUI: C2713615
Disease: Slow-Flow Phenomenon
Slow-Flow Phenomenon
phenotype Pathological Conditions, Signs and Symptoms Pathologic Function 3 0.300 None 1.000 1 2007 2007
CUI: C0086565
Disease: Liver Dysfunction
Liver Dysfunction
phenotype Digestive System Diseases Finding 73 0.300 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: C0348617
Disease: Other cardiomyopathies
Other cardiomyopathies
disease Cardiovascular Diseases Disease or Syndrome 4 0.200 None 0
Arrhythmogenic Right Ventricular Dysplasia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome; Congenital Abnormality 82 136 0.190 None 1.000 9 1 2002 2019
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: C0005890
Disease: Body Height
Body Height
phenotype Organism Attribute 1903 3972 0.100 None 1.000 1 1 2019 2019
CUI: C4553764
Disease: Ventricular Arrhythmia, CTCAE 5.0
Ventricular Arrhythmia, CTCAE 5.0
phenotype Finding 17 0.100 None 0
CUI: C0235475
Disease: Wide QRS complex
Wide QRS complex
phenotype Finding 3 0.100 None 0
CUI: C4282407
Disease: Sparse and thin eyebrow
Sparse and thin eyebrow
phenotype Finding 68 8 0.100 None 0
CUI: C0221270
Disease: Acanthosis
Acanthosis
phenotype Pathological Conditions, Signs and Symptoms Finding 37 0.100 None 0
Abnormal morphology of right ventricular trabeculae
phenotype Anatomical Abnormality 1 0.100 None 0
CUI: C0221260
Disease: Dystrophia unguium
Dystrophia unguium
disease Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome 81 9 0.100 None 0
CUI: C0027443
Disease: Natal Teeth
Natal Teeth
phenotype Finding 22 2 0.100 None 0
CUI: C0151970
Disease: Ulcer of esophagus
Ulcer of esophagus
disease Digestive System Diseases Disease or Syndrome 13 0.100 None 0
CUI: C0151636
Disease: Premature ventricular contractions
Premature ventricular contractions
phenotype Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 56 13 0.100 None 0
CUI: C0241181
Disease: Fragile skin
Fragile skin
phenotype Finding 26 5 0.100 None 0