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: C1843359
Disease: Orthokeratosis
Orthokeratosis 		phenotype Skin and Connective Tissue Diseases Finding 10 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: C4021575
Disease: Diffuse palmoplantar hyperkeratosis
Diffuse palmoplantar hyperkeratosis 		disease Disease or Syndrome 2 1 0.100 None 0 1
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: C0020488
Disease: Hypernatremia
Hypernatremia 		phenotype Nutritional and Metabolic Diseases Disease or Syndrome 59 3 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: C0000887
Disease: Acantholysis
Acantholysis 		phenotype Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Pathologic Function 11 0.100 None 0
CUI: C0011436
Disease: Dentinogenesis Imperfecta
Dentinogenesis Imperfecta 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Congenital Abnormality 35 7 0.070 None 1.000 7 1995 2010
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: C0038165
Disease: Staphylococcal Scalded Skin Syndrome
Staphylococcal Scalded Skin Syndrome 		disease Infections; Skin and Connective Tissue Diseases Disease or Syndrome 7 0.040 None 1.000 4 2005 2012
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: C0406632
Disease: Autoimmune skin disease
Autoimmune skin disease 		disease Skin and Connective Tissue Diseases; Immune System Diseases Disease or Syndrome 9 0.030 None 1.000 3 2002 2019
CUI: C0022579
Disease: Keratoderma
Keratoderma 		disease Skin and Connective Tissue Diseases Congenital Abnormality 24 2 0.030 None 1.000 3 2003 2007
CUI: C0037284
Disease: Skin lesion
Skin lesion 		group Skin and Connective Tissue Diseases Disease or Syndrome 563 52 0.030 None 1.000 3 2007 2020
CUI: C0021100
Disease: Bullous impetigo
Bullous impetigo 		disease Infections; Skin and Connective Tissue Diseases Disease or Syndrome 5 0.020 None 1.000 2 2009 2020
CUI: C1542647
Disease: bullous staphylococcal impetigo
bullous staphylococcal impetigo 		disease Infections; Skin and Connective Tissue Diseases Disease or Syndrome 5 0.020 None 1.000 2 2009 2020
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		group Neoplasms Neoplastic Process 8221 1374 0.020 None 1.000 2 2010 2019
CUI: C0278996
Disease: Malignant Head and Neck Neoplasm
Malignant Head and Neck Neoplasm 		disease Neoplasms Neoplastic Process 767 118 0.020 None 1.000 2 2019 2019
CUI: C0013595
Disease: Eczema
Eczema 		disease Skin and Connective Tissue Diseases Disease or Syndrome 863 368 0.020 None 1.000 2 2017 2017
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: 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: C0011615
Disease: Dermatitis, Atopic
Dermatitis, Atopic 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Immune System Diseases Disease or Syndrome 751 232 0.020 None 1.000 2 2017 2017
CUI: C3887461
Disease: Head and Neck Carcinoma
Head and Neck Carcinoma 		disease Neoplasms Neoplastic Process 786 118 0.020 None 1.000 2 2019 2019
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma 		disease Neoplasms Neoplastic Process 2507 257 0.020 None 1.000 2 2008 2011