DSP, desmoplakin, 1832

N. diseases: 22; N. variants: 140
Source: CURATED ×
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: C1854063
Disease: Cardiomyopathy dilated with Woolly hair and keratoderma
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 7 54 1999 2019
CUI: C1843896
Disease: Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
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 8 69 1999 2019
CUI: C1864826
Disease: Epidermolysis bullosa, lethal acantholytic
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 7 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 6 7 2002 2019
CUI: C4014393
Disease: CARDIOMYOPATHY, DILATED, WITH WOOLLY HAIR, KERATODERMA, AND TOOTH AGENESIS
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 21 31 0.660 None 1.000 1 1 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 130 172 0.500 None 0.966 0 13 2002 2019
CUI: C0034069
Disease: Pulmonary Fibrosis
Pulmonary Fibrosis 		disease Respiratory Tract Diseases Disease or Syndrome 85 0.430 None 1.000 1 2017 2018
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		disease Respiratory Tract Diseases Disease or Syndrome 33 575 0.420 None 1.000 1 1 2017 2019
CUI: C0085298
Disease: Sudden Cardiac Death
Sudden Cardiac Death 		phenotype Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Pathologic Function 8 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 3 0.350 None 1.000 1 1999 2009
CUI: C3809719
Disease: Severe dermatitis, multiple allergies, metabolic wasting syndrome
Severe dermatitis, multiple allergies, metabolic wasting syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 2 2 0.320 None 1.000 1 2015 2019
CUI: C1858302
Disease: Ectodermal dysplasia/ skin fragility syndrome
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 0 2009 2009
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		disease Cardiovascular Diseases Disease or Syndrome 57 470 0.310 1.000 0 2017 2017
CUI: C1720824
Disease: Sudden Cardiac Arrest
Sudden Cardiac Arrest 		phenotype Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Pathologic Function 8 32 0.300 None 1.000 1 2010 2010
CUI: C1527303
Disease: Chronic Airflow Obstruction
Chronic Airflow Obstruction 		disease Respiratory Tract Diseases Disease or Syndrome 33 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 14 4 0.300 None 1.000 1 2013 2013
CUI: C4721507
Disease: Alveolitis, Fibrosing
Alveolitis, Fibrosing 		disease Respiratory Tract Diseases Disease or Syndrome 83 0.300 None 1.000 1 2017 2017
CUI: C4721508
Disease: Hamman-Rich Disease
Hamman-Rich Disease 		disease Respiratory Tract Diseases Disease or Syndrome 19 0.300 None 1.000 1 2013 2013
CUI: C4721509
Disease: Usual Interstitial Pneumonia
Usual Interstitial Pneumonia 		disease Respiratory Tract Diseases Disease or Syndrome 19 0.300 None 1.000 1 2013 2013
CUI: C4721952
Disease: Familial Idiopathic Pulmonary Fibrosis
Familial Idiopathic Pulmonary Fibrosis 		disease Respiratory Tract Diseases Disease or Syndrome 20 0.300 None 1.000 1 2013 2013