DSP, desmoplakin, 1832

N. diseases: 191; N. variants: 152
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.
Cardiomyopathy dilated with Woolly hair and keratoderma
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Cardiovascular Diseases Disease or Syndrome 1 54 0.960 strong 0.971 34 54 1999 2019
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome 1 69 0.900 strong 1.000 29 69 1999 2019
Epidermolysis bullosa, lethal acantholytic
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 2 5 0.740 strong 1.000 9 5 2005 2019
CUI: C1843292
Disease: Skin Fragility-Woolly Hair Syndrome
Skin Fragility-Woolly Hair Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 1 7 0.720 strong 1.000 7 7 2002 2019
CARDIOMYOPATHY, DILATED, WITH WOOLLY HAIR, KERATODERMA, AND TOOTH AGENESIS
disease Disease or Syndrome 1 8 0.700 strong 1.000 6 8 2006 2019
CUI: C1800706
Disease: Idiopathic Pulmonary Fibrosis
Idiopathic Pulmonary Fibrosis
disease Respiratory Tract Diseases Disease or Syndrome 803 63 0.660 None 1.000 7 2 2013 2019
CUI: C1852127
Disease: KERATOSIS PALMOPLANTARIS STRIATA II
KERATOSIS PALMOPLANTARIS STRIATA II
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 1 4 0.600 strong 1.000 5 4 2011 2019
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
group Cardiovascular Diseases Disease or Syndrome 925 294 0.500 None 0.966 29 13 2002 2019
CUI: C0034069
Disease: Pulmonary Fibrosis
Pulmonary Fibrosis
disease Respiratory Tract Diseases Disease or Syndrome 924 25 0.430 None 1.000 3 2017 2018
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease
disease Respiratory Tract Diseases Disease or Syndrome 1428 852 0.420 None 1.000 3 1 2017 2019
CUI: C0085298
Disease: Sudden Cardiac Death
Sudden Cardiac Death
phenotype Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Pathologic Function 133 40 0.400 None 1.000 1 1 2010 2010
CUI: C4707237
Disease: Striate palmoplantar keratoderma
Striate palmoplantar keratoderma
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 5 1 0.350 None 1.000 6 1999 2009
Severe dermatitis, multiple allergies, metabolic wasting syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 4 2 0.320 None 1.000 3 2015 2019
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy
disease Cardiovascular Diseases Disease or Syndrome 560 635 0.310 1.000 1 2017 2017
Ectodermal dysplasia/ skin fragility syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 2 3 0.310 limited 1.000 1 2009 2009
CUI: C4721507
Disease: Alveolitis, Fibrosing
Alveolitis, Fibrosing
disease Respiratory Tract Diseases Disease or Syndrome 91 4 0.300 None 1.000 1 2017 2017
CUI: C4721508
Disease: Hamman-Rich Disease
Hamman-Rich Disease
disease Respiratory Tract Diseases Disease or Syndrome 20 0.300 None 1.000 1 2013 2013
CUI: C4721509
Disease: Usual Interstitial Pneumonia
Usual Interstitial Pneumonia
disease Respiratory Tract Diseases Disease or Syndrome 64 2 0.300 None 1.000 1 2013 2013
Familial Idiopathic Pulmonary Fibrosis
disease Respiratory Tract Diseases Disease or Syndrome 23 0.300 None 1.000 1 2013 2013
CUI: C1527303
Disease: Chronic Airflow Obstruction
Chronic Airflow Obstruction
disease Respiratory Tract Diseases Disease or Syndrome 35 0.300 None 1.000 1 2017 2017
CUI: C0085786
Disease: Hamman-Rich syndrome
Hamman-Rich syndrome
disease Pathological Conditions, Signs and Symptoms; Infections; Respiratory Tract Diseases Disease or Syndrome 55 8 0.300 None 1.000 1 2013 2013
CUI: C1720824
Disease: Sudden Cardiac Arrest
Sudden Cardiac Arrest
phenotype Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Pathologic Function 27 32 0.300 None 1.000 1 2010 2010
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 49 36 1999 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 0.200 None 1.000 10 1 1999 2019
CUI: C0348617
Disease: Other cardiomyopathies
Other cardiomyopathies
disease Cardiovascular Diseases Disease or Syndrome 4 0.200 None 0