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: 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
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: 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: C0011603
Disease: Dermatitis
Dermatitis 		disease Skin and Connective Tissue Diseases Disease or Syndrome 496 16 0.340 None 1.000 4 2013 2019
CUI: C1527304
Disease: Allergic Reaction
Allergic Reaction 		phenotype Immune System Diseases Pathologic Function 197 1019 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: C0020517
Disease: Hypersensitivity
Hypersensitivity 		group Immune System Diseases Pathologic Function 90 2 0.300 None 1.000 1 2013 2013
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: 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: 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: 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: 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: 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: C0582591
Disease: Processing speed
Processing speed 		phenotype Mental Process 7 15 0.100 None 1.000 1 1 2014 2014
CUI: C3806482
Disease: Recurrent respiratory infections
Recurrent respiratory infections 		phenotype Infections; Respiratory Tract Diseases Finding 318 7 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: C3279547
Disease: Hypergranulosis
Hypergranulosis 		phenotype Finding 16 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: C0221270
Disease: Acanthosis
Acanthosis 		phenotype Pathological Conditions, Signs and Symptoms Finding 37 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