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: 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: C0020488
Disease: Hypernatremia
Hypernatremia 		phenotype Nutritional and Metabolic Diseases Disease or Syndrome 59 3 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: C0020678
Disease: Hypotrichosis
Hypotrichosis 		disease Skin and Connective Tissue Diseases Disease or Syndrome 69 2 0.100 None 0
CUI: C1843359
Disease: Orthokeratosis
Orthokeratosis 		phenotype Skin and Connective Tissue Diseases Finding 10 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: 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: C3279547
Disease: Hypergranulosis
Hypergranulosis 		phenotype Finding 16 0.100 None 0
CUI: C0456070
Disease: Growth delay
Growth delay 		phenotype Pathologic Function 244 40 0.100 None 0
CUI: C0221270
Disease: Acanthosis
Acanthosis 		phenotype Pathological Conditions, Signs and Symptoms Finding 37 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: C0262985
Disease: Psoriasiform eczema
Psoriasiform eczema 		disease Skin and Connective Tissue Diseases Disease or Syndrome 62 0.100 None 0
CUI: C0027651
Disease: Neoplasms
Neoplasms 		group Neoplasms Neoplastic Process 10161 1644 0.010 None < 0.001 1 2015 2015
CUI: C0023646
Disease: Lichen Planus
Lichen Planus 		disease Skin and Connective Tissue Diseases Disease or Syndrome 106 4 0.020 None 0.500 2 2017 2019
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases 		group Immune System Diseases Disease or Syndrome 1758 428 0.040 None 0.750 4 2002 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 0.470 strong 0.857 7 2005 2019
CUI: C4707237
Disease: Striate palmoplantar keratoderma
Striate palmoplantar keratoderma 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 5 1 0.400 None 0.909 11 1999 2019
CUI: C0030809
Disease: Pemphigus Vulgaris
Pemphigus Vulgaris 		disease Skin and Connective Tissue Diseases; Immune System Diseases Disease or Syndrome 115 39 0.100 None 0.951 41 1994 2019
CUI: C0263313
Disease: Pemphigus Foliaceus
Pemphigus Foliaceus 		disease Skin and Connective Tissue Diseases; Immune System Diseases Disease or Syndrome 51 16 0.100 None 0.980 49 1994 2019
CUI: C0030807
Disease: Pemphigus
Pemphigus 		disease Skin and Connective Tissue Diseases; Immune System Diseases Disease or Syndrome 67 3 0.100 None 1.000 16 1995 2019
CUI: C0037274
Disease: Dermatologic disorders
Dermatologic disorders 		group Skin and Connective Tissue Diseases Disease or Syndrome 617 21 0.100 None 1.000 14 1997 2017
CUI: C0263314
Disease: Pemphigus and fogo selvagem
Pemphigus and fogo selvagem 		disease Skin and Connective Tissue Diseases; Immune System Diseases Disease or Syndrome 26 3 0.100 None 1.000 13 1995 2018
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 4 2 0.800 None 1.000 11 2 2013 2020