KRT2, keratin 2, 3849

N. diseases: 18; 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: C0432306
Disease: Ichthyosis Bullosa of Siemens
Ichthyosis Bullosa of Siemens 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Congenital Abnormality 37 12 0.800 limited 1.000 18 12 1994 2005
CUI: C0011616
Disease: Contact Dermatitis
Contact Dermatitis 		disease Skin and Connective Tissue Diseases Disease or Syndrome 110 3 0.300 None 1.000 1 2015 2015
CUI: C0162351
Disease: Contact hypersensitivity
Contact hypersensitivity 		phenotype Skin and Connective Tissue Diseases Pathologic Function 71 0.300 None 1.000 1 2015 2015
CUI: C1274214
Disease: Autosomal dominant ichthyosis
Autosomal dominant ichthyosis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Congenital Abnormality 1 0.300 strong 0
CUI: C0079153
Disease: Hyperkeratosis, Epidermolytic
Hyperkeratosis, Epidermolytic 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Congenital Abnormality 20 35 0.150 None 1.000 5 1994 2016
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 0.110 None 1.000 1 2016 2016
CUI: C1838440
Disease: ICHTHYOSIS EXFOLIATIVA
ICHTHYOSIS EXFOLIATIVA 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 4 1 0.110 None 1.000 1 1 1994 1994
CUI: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure 		phenotype Laboratory Procedure 610 1144 0.100 None 1.000 1 1 2019 2019
CUI: C2132198
Disease: Abnormal blistering of the skin
Abnormal blistering of the skin 		phenotype Finding 75 10 0.100 None 0
CUI: C0423757
Disease: Thin skin
Thin skin 		phenotype Finding 77 4 0.100 None 0
CUI: C0041834
Disease: Erythema
Erythema 		phenotype Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome 227 8 0.100 None 0
CUI: C0020757
Disease: Ichthyoses
Ichthyoses 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 194 18 0.100 None 0
CUI: C0013604
Disease: Edema
Edema 		phenotype Pathological Conditions, Signs and Symptoms Pathologic Function 126 1 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: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6776 2793 0.010 None 1.000 1 2012 2012
CUI: C0686619
Disease: Secondary malignant neoplasm of lymph node
Secondary malignant neoplasm of lymph node 		disease Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 2825 188 0.010 None 1.000 1 2012 2012
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6941 3417 0.010 None 1.000 1 2012 2012
CUI: C3665704
Disease: Congenital reticular ichthyosiform erythroderma
Congenital reticular ichthyosiform erythroderma 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 4 6 0.010 None 1.000 1 2016 2016