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.
CUI: C4021633
Disease: Patchy palmoplantar keratoderma
Patchy palmoplantar keratoderma 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 5 0.100 None 0
CUI: C0014493
Disease: Epidemic keratoconjunctivitis
Epidemic keratoconjunctivitis 		disease Infections; Eye Diseases Disease or Syndrome 6 0.010 None 1.000 1 2016 2016
CUI: C0344893
Disease: Right ventricular dilatation
Right ventricular dilatation 		disease Congenital Abnormality 6 1 0.010 None 1.000 1 2015 2015
CUI: C0031538
Disease: Phimosis
Phimosis 		phenotype Male Urogenital Diseases Finding 6 0.100 None 0
CUI: C3150852
Disease: EARLY REPOLARIZATION ASSOCIATED WITH VENTRICULAR FIBRILLATION
EARLY REPOLARIZATION ASSOCIATED WITH VENTRICULAR FIBRILLATION 		disease Disease or Syndrome 7 0.010 None 1.000 1 2016 2016
CUI: C1879286
Disease: Hereditary bundle branch system defect
Hereditary bundle branch system defect 		disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 7 16 0.100 None 0 1
CUI: C1969236
Disease: Mitten deformity
Mitten deformity 		phenotype Congenital Abnormality 7 0.100 None 0
CUI: C0000887
Disease: Acantholysis
Acantholysis 		phenotype Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Pathologic Function 11 0.100 None 0
CUI: C0853945
Disease: Oral mucosal blisters
Oral mucosal blisters 		phenotype Sign or Symptom 12 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: C0017572
Disease: Gingival Recession
Gingival Recession 		disease Stomatognathic Diseases Disease or Syndrome 14 1 0.100 None 0
CUI: C0241984
Disease: Honeycomb lung
Honeycomb lung 		disease Respiratory Tract Diseases Disease or Syndrome 14 0.100 None 0
CUI: C4476639
Disease: Ground-glass opacification on pulmonary HRCT
Ground-glass opacification on pulmonary HRCT 		phenotype Finding 14 0.100 None 0
CUI: C4476748
Disease: Reticular pattern on pulmonary HRCT
Reticular pattern on pulmonary HRCT 		phenotype Finding 14 0.100 None 0
CUI: C2063326
Disease: Right ventricular cardiomyopathy
Right ventricular cardiomyopathy 		disease Cardiovascular Diseases Disease or Syndrome 15 4 0.100 None 0 2
CUI: C0018500
Disease: Hair Diseases
Hair Diseases 		group Skin and Connective Tissue Diseases Disease or Syndrome 17 2 0.010 None < 0.001 1 2007 2007
CUI: C0855329
Disease: Electrocardiogram change
Electrocardiogram change 		phenotype Finding 18 27 0.100 None 0 2
CUI: C0334013
Disease: Phrynoderma
Phrynoderma 		disease Skin and Connective Tissue Diseases Disease or Syndrome 19 3 0.010 None 1.000 1 2018 2018
CUI: C2931783
Disease: Amelogenesis imperfecta nephrocalcinosis
Amelogenesis imperfecta nephrocalcinosis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Stomatognathic Diseases Disease or Syndrome 19 17 0.010 None 1.000 1 2016 2016
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 1 2019 2019
CUI: C0263505
Disease: Alopecia universalis
Alopecia universalis 		disease Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome 19 2 0.100 None 0
CUI: C0343073
Disease: Wooly hair
Wooly hair 		phenotype Skin and Connective Tissue Diseases Finding 19 0.100 None 0
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: 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: C0079153
Disease: Hyperkeratosis, Epidermolytic
Hyperkeratosis, Epidermolytic 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Congenital Abnormality 20 35 0.100 None 0