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: C0740281
Disease: Multiple allergies
Multiple allergies 		disease Disease or Syndrome 2 0.020 None 1.000 2 2015 2016
CUI: C0582591
Disease: Processing speed
Processing speed 		phenotype Mental Process 7 15 0.100 None 1.000 1 1 2014 2014
CUI: C0860659
Disease: Aloof
Aloof 		disease Mental or Behavioral Dysfunction 81 0.010 None 1.000 1 2019 2019
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		phenotype Neoplastic Process 6626 169 0.010 None 1.000 1 2019 2019
CUI: C1737229
Disease: Pemphigus herpetiformis
Pemphigus herpetiformis 		disease Disease or Syndrome 1 0.010 None 1.000 1 2018 2018
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: C0456070
Disease: Growth delay
Growth delay 		phenotype Pathologic Function 244 40 0.100 None 0
CUI: C3279547
Disease: Hypergranulosis
Hypergranulosis 		phenotype Finding 16 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: 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: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		group Cardiovascular Diseases Disease or Syndrome 925 294 0.010 None 1.000 1 2019 2019
CUI: C0149630
Disease: Bicuspid aortic valve
Bicuspid aortic valve 		disease Cardiovascular Diseases Congenital Abnormality 154 23 0.100 None 0 1
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: C0266574
Disease: Ablepharon
Ablepharon 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 20 1 0.010 None 1.000 1 2018 2018
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 766 80 0.010 None 1.000 1 2005 2005
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: 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: 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: C0037277
Disease: Skin Diseases, Genetic
Skin Diseases, Genetic 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 57 6 0.010 None 1.000 1 2015 2015
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: 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: 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: 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: C0010346
Disease: Crohn Disease
Crohn Disease 		disease Digestive System Diseases Disease or Syndrome 1382 1147 0.010 None 1.000 1 2017 2017
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