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: C0011603
Disease: Dermatitis
Dermatitis 		disease Skin and Connective Tissue Diseases Disease or Syndrome 496 16 0.340 None 1.000 4 2013 2019
CUI: C3806482
Disease: Recurrent respiratory infections
Recurrent respiratory infections 		phenotype Infections; Respiratory Tract Diseases Finding 318 7 0.100 None 0
CUI: C1708349
Disease: Hereditary Diffuse Gastric Cancer
Hereditary Diffuse Gastric Cancer 		disease Digestive System Diseases; Neoplasms Neoplastic Process 312 119 0.010 None 1.000 1 1992 1992
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: C0206139
Disease: Lichen Planus, Oral
Lichen Planus, Oral 		disease Skin and Connective Tissue Diseases; Stomatognathic Diseases Disease or Syndrome 257 20 0.010 None 1.000 1 2018 2018
CUI: C0015230
Disease: Exanthema
Exanthema 		phenotype Skin and Connective Tissue Diseases Sign or Symptom 251 14 0.010 None 1.000 1 2018 2018
CUI: C0456070
Disease: Growth delay
Growth delay 		phenotype Pathologic Function 244 40 0.100 None 0
CUI: C1527304
Disease: Allergic Reaction
Allergic Reaction 		phenotype Immune System Diseases Pathologic Function 197 1019 0.300 None 1.000 1 2013 2013
CUI: C0341106
Disease: Eosinophilic esophagitis
Eosinophilic esophagitis 		disease Digestive System Diseases; Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 183 40 0.050 None 1.000 5 2014 2019
CUI: C0870082
Disease: Hyperkeratosis
Hyperkeratosis 		disease Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome 176 19 0.010 None 1.000 1 2007 2007
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: C0149630
Disease: Bicuspid aortic valve
Bicuspid aortic valve 		disease Cardiovascular Diseases Congenital Abnormality 154 23 0.100 None 0 1
CUI: C0030805
Disease: Bullous pemphigoid
Bullous pemphigoid 		disease Skin and Connective Tissue Diseases; Immune System Diseases Disease or Syndrome 127 11 0.010 None 1.000 1 2017 2017
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: 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: 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: C0020517
Disease: Hypersensitivity
Hypersensitivity 		group Immune System Diseases Pathologic Function 90 2 0.300 None 1.000 1 2013 2013
CUI: C0860659
Disease: Aloof
Aloof 		disease Mental or Behavioral Dysfunction 81 0.010 None 1.000 1 2019 2019
CUI: C0020678
Disease: Hypotrichosis
Hypotrichosis 		disease Skin and Connective Tissue Diseases Disease or Syndrome 69 2 0.100 None 0
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: C0853087
Disease: Nail abnormality
Nail abnormality 		phenotype Pathological Conditions, Signs and Symptoms Anatomical Abnormality 67 11 0.100 None 0
CUI: C0265962
Disease: Ichthyosis linearis circumflexa
Ichthyosis linearis circumflexa 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome; Congenital Abnormality 64 20 0.020 None 1.000 2 2005 2009
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: C0262985
Disease: Psoriasiform eczema
Psoriasiform eczema 		disease Skin and Connective Tissue Diseases Disease or Syndrome 62 0.100 None 0
CUI: C0020488
Disease: Hypernatremia
Hypernatremia 		phenotype Nutritional and Metabolic Diseases Disease or Syndrome 59 3 0.100 None 0