DSG1, desmoglein 1, 1828

N. diseases: 81; N. variants: 13
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: C0000887
Disease: Acantholysis
Acantholysis 		phenotype Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Pathologic Function 11 0.100 None 0
CUI: C0149630
Disease: Bicuspid aortic valve
Bicuspid aortic valve 		disease Cardiovascular Diseases Congenital Abnormality 154 23 0.100 None 0 1
CUI: C0221270
Disease: Acanthosis
Acanthosis 		phenotype Pathological Conditions, Signs and Symptoms Finding 37 0.100 None 0
CUI: C0020678
Disease: Hypotrichosis
Hypotrichosis 		disease Skin and Connective Tissue Diseases Disease or Syndrome 69 2 0.100 None 0
CUI: C0020488
Disease: Hypernatremia
Hypernatremia 		phenotype Nutritional and Metabolic Diseases Disease or Syndrome 59 3 0.100 None 0
CUI: C0262985
Disease: Psoriasiform eczema
Psoriasiform eczema 		disease Skin and Connective Tissue Diseases Disease or Syndrome 62 0.100 None 0
CUI: C0456070
Disease: Growth delay
Growth delay 		phenotype Pathologic Function 244 40 0.100 None 0
CUI: C0853087
Disease: Nail abnormality
Nail abnormality 		phenotype Pathological Conditions, Signs and Symptoms Anatomical Abnormality 67 11 0.100 None 0
CUI: C3279547
Disease: Hypergranulosis
Hypergranulosis 		phenotype Finding 16 0.100 None 0
CUI: C1843359
Disease: Orthokeratosis
Orthokeratosis 		phenotype Skin and Connective Tissue Diseases Finding 10 0.100 None 0
CUI: C1853193
Disease: Recurrent skin infections
Recurrent skin infections 		phenotype Infections; Skin and Connective Tissue Diseases Disease or Syndrome 95 2 0.100 None 0
CUI: C3806482
Disease: Recurrent respiratory infections
Recurrent respiratory infections 		phenotype Infections; Respiratory Tract Diseases Finding 318 7 0.100 None 0
CUI: C4024861
Disease: Streaks of hyperkeratosis along each finger onto the palm
Streaks of hyperkeratosis along each finger onto the palm 		phenotype Finding 1 0.100 None 0
CUI: C4021575
Disease: Diffuse palmoplantar hyperkeratosis
Diffuse palmoplantar hyperkeratosis 		disease Disease or Syndrome 2 1 0.100 None 0 1
CUI: C2931122
Disease: Keratosis palmoplantaris striata 1
Keratosis palmoplantaris striata 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 1 8 0.600 strong 1.000 1 8 2017 2017
CUI: C1527304
Disease: Allergic Reaction
Allergic Reaction 		phenotype Immune System Diseases Pathologic Function 197 1019 0.300 None 1.000 1 2013 2013
CUI: C4755302
Disease: Focal palmoplantar keratoderma with joint keratoses
Focal palmoplantar keratoderma with joint keratoses 		disease Disease or Syndrome 1 0.300 None 1.000 1 2006 2006
CUI: C0020517
Disease: Hypersensitivity
Hypersensitivity 		group Immune System Diseases Pathologic Function 90 2 0.300 None 1.000 1 2013 2013
CUI: C4755309
Disease: Diffuse palmoplantar keratoderma with painful fissures
Diffuse palmoplantar keratoderma with painful fissures 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 1 0.300 None 1.000 1 2005 2005
CUI: C0025517
Disease: Metabolic Diseases
Metabolic Diseases 		group Nutritional and Metabolic Diseases Disease or Syndrome 945 50 0.300 None 1.000 1 2013 2013
CUI: C0035126
Disease: Reperfusion Injury
Reperfusion Injury 		disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Injury or Poisoning 300 0.200 None 1.000 1 2009 2009
CUI: C0022596
Disease: Palmoplantar Keratosis
Palmoplantar Keratosis 		disease Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome 39 6 0.110 None 1.000 1 3 2007 2007
CUI: C0011606
Disease: Exfoliative dermatitis
Exfoliative dermatitis 		disease Skin and Connective Tissue Diseases Disease or Syndrome 64 2 0.110 None 1.000 1 2019 2019
CUI: C0582591
Disease: Processing speed
Processing speed 		phenotype Mental Process 7 15 0.100 None 1.000 1 1 2014 2014
CUI: C0686619
Disease: Secondary malignant neoplasm of lymph node
Secondary malignant neoplasm of lymph node 		disease Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 2825 188 0.010 None 1.000 1 2003 2003