DSC2, desmocollin 2, 1824

N. diseases: 81; 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: C3552311
Disease: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 11, WITH MILD PALMOPLANTAR KERATODERMA AND WOOLLY HAIR
ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 11, WITH MILD PALMOPLANTAR KERATODERMA AND WOOLLY HAIR 		disease Disease or Syndrome 1 1 0.100 None 0 1
CUI: C4310975
Disease: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 11, WITH OR WITHOUT MILD PALMOPLANTAR KERATODERMA
ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 11, WITH OR WITHOUT MILD PALMOPLANTAR KERATODERMA 		disease Disease or Syndrome 1 1 0.100 None 0 1
CUI: C1864850
Disease: Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome 2 15 0.700 strong 1.000 10 15 2006 2018
CUI: C2751292
Disease: Hypotrichosis And Recurrent Skin Vesicles
Hypotrichosis And Recurrent Skin Vesicles 		disease Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome; Congenital Abnormality 2 1 0.010 None 1.000 1 2009 2009
CUI: C4015202
Disease: PALMOPLANTAR KERATODERMA AND WOOLLY HAIR
PALMOPLANTAR KERATODERMA AND WOOLLY HAIR 		disease Disease or Syndrome 3 1 0.010 None 1.000 1 2009 2009
CUI: C0263316
Disease: Pemphigus vegetans
Pemphigus vegetans 		disease Skin and Connective Tissue Diseases; Immune System Diseases Disease or Syndrome 4 0.010 None 1.000 1 2018 2018
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 0.010 None 1.000 1 2016 2016
CUI: C2063326
Disease: Right ventricular cardiomyopathy
Right ventricular cardiomyopathy 		disease Cardiovascular Diseases Disease or Syndrome 15 4 0.110 None 1.000 1 2009 2009
CUI: C0344424
Disease: Ventricular Arrhythmia by ECG Finding
Ventricular Arrhythmia by ECG Finding 		phenotype Laboratory or Test Result 17 0.100 None 0
CUI: C1883529
Disease: Ventricular Arrhythmia, CTCAE 3.0
Ventricular Arrhythmia, CTCAE 3.0 		phenotype Finding 17 0.100 None 0
CUI: C4553764
Disease: Ventricular Arrhythmia, CTCAE 5.0
Ventricular Arrhythmia, CTCAE 5.0 		phenotype Finding 17 0.100 None 0
CUI: C4721530
Disease: Congenital hypotrichia
Congenital hypotrichia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Congenital Abnormality 19 4 0.010 None 1.000 1 2012 2012
CUI: C0343073
Disease: Wooly hair
Wooly hair 		phenotype Skin and Connective Tissue Diseases Finding 19 0.100 None 0
CUI: C0014527
Disease: Epidermolysis Bullosa
Epidermolysis Bullosa 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Congenital Abnormality 47 3 0.010 None 1.000 1 2012 2012
CUI: C0263630
Disease: Hypertrophic disorder of skin, unspecified
Hypertrophic disorder of skin, unspecified 		group Skin and Connective Tissue Diseases Disease or Syndrome 62 1 0.010 None 1.000 1 2020 2020
CUI: C3160712
Disease: Palpitations, CTCAE
Palpitations, CTCAE 		phenotype Finding 64 0.100 None 0
CUI: C0030807
Disease: Pemphigus
Pemphigus 		disease Skin and Connective Tissue Diseases; Immune System Diseases Disease or Syndrome 67 3 0.010 None 1.000 1 2019 2019
CUI: C0020678
Disease: Hypotrichosis
Hypotrichosis 		disease Skin and Connective Tissue Diseases Disease or Syndrome 69 2 0.010 None 1.000 1 2012 2012
CUI: C0030252
Disease: Palpitations
Palpitations 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases Finding 70 7 0.100 None 0
CUI: C0349788
Disease: Arrhythmogenic Right Ventricular Dysplasia
Arrhythmogenic Right Ventricular Dysplasia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome; Congenital Abnormality 82 136 0.200 None 1.000 23 10 2006 2019
CUI: C0151718
Disease: Hypocholesterolemia
Hypocholesterolemia 		disease Nutritional and Metabolic Diseases Disease or Syndrome 113 22 0.010 None 1.000 1 2019 2019
CUI: C0030809
Disease: Pemphigus Vulgaris
Pemphigus Vulgaris 		disease Skin and Connective Tissue Diseases; Immune System Diseases Disease or Syndrome 115 39 0.010 None 1.000 1 2019 2019
CUI: C0039070
Disease: Syncope
Syncope 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 119 45 0.100 None 0
CUI: C0085298
Disease: Sudden Cardiac Death
Sudden Cardiac Death 		phenotype Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Pathologic Function 133 40 0.100 None 0
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 2012 2012