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.
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
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
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
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: C4551647
Disease: Long QT Syndrome 1
Long QT Syndrome 1
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome 20 240 0.100 None 1.000 8 1 2008 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: 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: 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
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: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma
disease Neoplasms Neoplastic Process 2507 257 0.040 None 1.000 4 1999 2009
CUI: C0018801
Disease: Heart failure
Heart failure
disease Cardiovascular Diseases Disease or Syndrome 1499 201 0.040 None 1.000 4 1 2006 2015
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure
disease Cardiovascular Diseases Disease or Syndrome 1760 165 0.140 None 1.000 4 2 2006 2015
CUI: C0022579
Disease: Keratoderma
Keratoderma
disease Skin and Connective Tissue Diseases Congenital Abnormality 24 2 0.040 None 1.000 4 1 2000 2010
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: C0030809
Disease: Pemphigus Vulgaris
Pemphigus Vulgaris
disease Skin and Connective Tissue Diseases; Immune System Diseases Disease or Syndrome 115 39 0.030 None 0.667 3 2007 2014
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: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic
disease Cardiovascular Diseases Disease or Syndrome 773 243 0.030 None 1.000 3 2014 2020
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 0.030 None 1.000 3 2005 2006
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: C0011603
Disease: Dermatitis
Dermatitis
disease Skin and Connective Tissue Diseases Disease or Syndrome 496 16 0.020 None 1.000 2 2016 2020
CUI: C0023434
Disease: Chronic Lymphocytic Leukemia
Chronic Lymphocytic Leukemia
disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 1447 291 0.020 None 0.500 2 1987 2016
CUI: C0085612
Disease: Ventricular arrhythmia
Ventricular arrhythmia
disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 176 37 0.120 None 1.000 2 1 2011 2014
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung
disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 4173 1142 0.020 None 1.000 2 2012 2014