CDSN, corneodesmosin, 1041

N. diseases: 101; N. variants: 46
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: C1840299
Disease: Hypotrichosis Simplex of Scalp
Hypotrichosis Simplex of Scalp 		disease Skin and Connective Tissue Diseases Disease or Syndrome 3 2 0.700 strong 1.000 2 2 2003 2012
CUI: C0085620
Disease: Flaccid paralysis
Flaccid paralysis 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 4 0.010 None 1.000 1 2014 2014
CUI: C1853354
Disease: Peeling skin syndrome, acral type
Peeling skin syndrome, acral type 		disease Skin and Connective Tissue Diseases Disease or Syndrome 4 7 0.010 None 1.000 1 2012 2012
CUI: C4722446
Disease: ENCEPHALITIS/ENCEPHALOPATHY, MILD, WITH REVERSIBLE MYELIN VACUOLIZATION
ENCEPHALITIS/ENCEPHALOPATHY, MILD, WITH REVERSIBLE MYELIN VACUOLIZATION 		disease Disease or Syndrome 9 1 0.030 None 1.000 3 2017 2019
CUI: C1264610
Disease: Infectious peritonitis
Infectious peritonitis 		disease Digestive System Diseases; Infections Disease or Syndrome 11 0.010 None 1.000 1 2002 2002
CUI: C1873509
Disease: Hypotrichosis of the scalp
Hypotrichosis of the scalp 		phenotype Finding 12 1 0.100 None 0
CUI: C4523989
Disease: Occult hepatitis B
Occult hepatitis B 		disease Disease or Syndrome 14 0.040 None 0.750 4 2013 2017
CUI: C0085661
Disease: Onycholysis
Onycholysis 		disease Skin and Connective Tissue Diseases Disease or Syndrome 15 0.100 None 0
CUI: C4023722
Disease: Abnormality of hair texture
Abnormality of hair texture 		disease Finding 15 1 0.100 None 0
CUI: C0277527
Disease: Epidemic diarrhea
Epidemic diarrhea 		disease Digestive System Diseases; Infections Disease or Syndrome 19 0.020 None 1.000 2 2017 2018
CUI: C2242712
Disease: Hyper LDL cholesterolaemia
Hyper LDL cholesterolaemia 		disease Disease or Syndrome 20 19 0.010 None 1.000 1 1 2019 2019
CUI: C0237849
Disease: Peeling of skin
Peeling of skin 		phenotype Finding 21 0.100 None 0
CUI: C1112211
Disease: Hepatic Infection
Hepatic Infection 		disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Infections Disease or Syndrome 24 0.010 None 1.000 1 1992 1992
CUI: C0155490
Disease: Middle Ear Cholesteatoma
Middle Ear Cholesteatoma 		disease Skin and Connective Tissue Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 29 0.010 None 1.000 1 2017 2017
CUI: C0206750
Disease: Coronavirus Infections
Coronavirus Infections 		group Infections Disease or Syndrome 33 0.010 None 1.000 1 2020 2020
CUI: C1854310
Disease: Hypotrichosis simplex
Hypotrichosis simplex 		disease Skin and Connective Tissue Diseases Disease or Syndrome 37 5 0.050 None 1.000 5 1 2003 2020
CUI: C0334070
Disease: Maturation defect
Maturation defect 		phenotype Acquired Abnormality 43 2 0.010 None 1.000 1 2018 2018
CUI: C0263490
Disease: Brittle hair
Brittle hair 		disease Disease or Syndrome 45 1 0.100 None 0
CUI: C0037285
Disease: Skin Manifestations
Skin Manifestations 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 50 5 0.010 None 1.000 1 2018 2018
CUI: C3694279
Disease: Middle East Respiratory Syndrome
Middle East Respiratory Syndrome 		disease Infections Disease or Syndrome 53 0.100 None 1.000 12 2013 2019
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 2020 2020
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 0.010 None 1.000 1 2011 2011
CUI: C1832588
Disease: Chromosome 11p11.2 Deletion Syndrome
Chromosome 11p11.2 Deletion Syndrome 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases Disease or Syndrome 65 6 0.010 None 1.000 1 2012 2012
CUI: C0311370
Disease: Lupus anticoagulant disorder
Lupus anticoagulant disorder 		disease Pathological Conditions, Signs and Symptoms; Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 66 14 0.010 None 1.000 1 2002 2002
CUI: C1849193
Disease: PEELING SKIN SYNDROME
PEELING SKIN SYNDROME 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 67 11 0.630 strong 1.000 5 4 2010 2013