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: C0013336
Disease: Dwarfism
Dwarfism 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Congenital Abnormality 1261 77 0.100 None 0
CUI: C4023722
Disease: Abnormality of hair texture
Abnormality of hair texture 		disease Finding 15 1 0.100 None 0
CUI: C0033774
Disease: Pruritus
Pruritus 		phenotype Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Finding 107 2 0.100 None 0
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		phenotype Finding 1010 0.100 None 0
CUI: C0037274
Disease: Dermatologic disorders
Dermatologic disorders 		group Skin and Connective Tissue Diseases Disease or Syndrome 617 21 0.090 None 1.000 9 1 2001 2020
CUI: C0042769
Disease: Virus Diseases
Virus Diseases 		group Infections Disease or Syndrome 1471 42 0.090 None 1.000 9 2002 2018
CUI: C0263361
Disease: Psoriasis vulgaris
Psoriasis vulgaris 		disease Skin and Connective Tissue Diseases Disease or Syndrome 255 80 0.060 None 0.833 6 1999 2006
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: C4523989
Disease: Occult hepatitis B
Occult hepatitis B 		disease Disease or Syndrome 14 0.040 None 0.750 4 2013 2017
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: C0019196
Disease: Hepatitis C
Hepatitis C 		disease Digestive System Diseases; Infections Disease or Syndrome 1768 347 0.030 None 1.000 3 2010 2018
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		disease Digestive System Diseases; Neoplasms Neoplastic Process 5725 942 0.020 None 1.000 2 1 2004 2012
CUI: C0027651
Disease: Neoplasms
Neoplasms 		group Neoplasms Neoplastic Process 10161 1644 0.020 None 1.000 2 2010 2019
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: C0023264
Disease: Leigh Disease
Leigh Disease 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 144 114 0.020 None 1.000 2 2012 2016
CUI: C0019159
Disease: Hepatitis A
Hepatitis A 		disease Digestive System Diseases; Infections Disease or Syndrome 451 27 0.020 None 1.000 2 1996 2008
CUI: C0019158
Disease: Hepatitis
Hepatitis 		group Digestive System Diseases Disease or Syndrome 656 42 0.010 None 1.000 1 2008 2008
CUI: C0017636
Disease: Glioblastoma
Glioblastoma 		disease Neoplasms Neoplastic Process 3177 281 0.010 None 1.000 1 2015 2015
CUI: C0017601
Disease: Glaucoma
Glaucoma 		disease Eye Diseases Disease or Syndrome 770 198 0.010 None 1.000 1 2008 2008
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		group Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 2780 385 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: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme 		disease Neoplasms Neoplastic Process 3197 186 0.010 None 1.000 1 2015 2015
CUI: C0334070
Disease: Maturation defect
Maturation defect 		phenotype Acquired Abnormality 43 2 0.010 None 1.000 1 2018 2018
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		group Neoplasms Neoplastic Process 8221 1374 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 1991 1991