KRT5, keratin 5, 3852

N. diseases: 203; N. variants: 58
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: C4526912
Disease: Lung Non-Keratinizing Squamous Cell Carcinoma
Lung Non-Keratinizing Squamous Cell Carcinoma 		disease Neoplastic Process 1 0.010 None 1.000 1 2016 2016
CUI: C1851551
Disease: Mottled pigmentation of the trunk and proximal extremities
Mottled pigmentation of the trunk and proximal extremities 		phenotype Finding 1 0.100 None 0
CUI: C1851552
Disease: Discrete 2 to 5-mm hyper- and hypopigmented macules
Discrete 2 to 5-mm hyper- and hypopigmented macules 		phenotype Finding 1 0.100 None 0
CUI: C4016235
Disease: EPIDERMOLYSIS BULLOSA SIMPLEX, DOWLING-MEARA TYPE, WITH SEVERE PALMOPLANTAR KERATODERMA
EPIDERMOLYSIS BULLOSA SIMPLEX, DOWLING-MEARA TYPE, WITH SEVERE PALMOPLANTAR KERATODERMA 		disease Finding 1 1 0.100 None 0 1
CUI: C4016236
Disease: EPIDERMOLYSIS BULLOSA SIMPLEX, GENERALIZED, WITH SEVERE PALMOPLANTAR KERATOSIS
EPIDERMOLYSIS BULLOSA SIMPLEX, GENERALIZED, WITH SEVERE PALMOPLANTAR KERATOSIS 		disease Finding 1 1 0.100 None 0 1
CUI: C4024872
Disease: Progressive reticulate hyperpigmentation
Progressive reticulate hyperpigmentation 		disease Disease or Syndrome 1 0.100 None 0
CUI: C1836284
Disease: Epidermolysis Bullosa Simplex with Migratory Circinate Erythema
Epidermolysis Bullosa Simplex with Migratory Circinate Erythema 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 2 3 0.620 None 1.000 2 3 2003 2006
CUI: C4302031
Disease: Basal epidermolysis bullosa simplex
Basal epidermolysis bullosa simplex 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 2 0.020 None 1.000 2 2010 2011
CUI: C0263325
Disease: Grover's disease
Grover's disease 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 2 0.010 None 1.000 1 2012 2012
CUI: C0263580
Disease: Ichthyosis hystrix
Ichthyosis hystrix 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 2 1 0.010 None 1.000 1 1 2006 2006
CUI: C0432315
Disease: Epidermolysis bullosa simplex herpetiformis
Epidermolysis bullosa simplex herpetiformis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Congenital Abnormality 2 0.010 None 1.000 1 1999 1999
CUI: C3715082
Disease: EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE 1
EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE 1 		disease Disease or Syndrome 2 9 0.400 None 1.000 1 3 2002 2002
CUI: C4024851
Disease: Punctate palmoplantar hyperkeratosis
Punctate palmoplantar hyperkeratosis 		disease Disease or Syndrome 2 0.100 None 0
CUI: C0596270
Disease: Cardiovascular Infections
Cardiovascular Infections 		group Infections; Cardiovascular Diseases Disease or Syndrome 3 0.010 None 1.000 1 2018 2018
CUI: C1334266
Disease: Intraurothelial Neoplasia
Intraurothelial Neoplasia 		disease Neoplastic Process 3 0.010 None 1.000 1 2017 2017
CUI: C0080333
Disease: Weber-Cockayne Syndrome
Weber-Cockayne Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 4 42 0.760 strong 1.000 18 25 1993 2019
CUI: C0079295
Disease: Epidermolysis Bullosa Herpetiformis Dowling-Meara
Epidermolysis Bullosa Herpetiformis Dowling-Meara 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 4 29 0.950 strong 1.000 16 15 1992 2019
CUI: C1832926
Disease: EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE (disorder)
EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE (disorder) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 4 0.310 None 1.000 1 2019 2019
CUI: C4552092
Disease: Dowling-Degos disease 1
Dowling-Degos disease 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 4 3 0.600 strong 1.000 1 3 2006 2006
CUI: C4024876
Disease: Palmoplantar blistering
Palmoplantar blistering 		phenotype Finding 4 3 0.100 None 0
CUI: C0432316
Disease: Epidermolysis bullosa simplex with mottled pigmentation
Epidermolysis bullosa simplex with mottled pigmentation 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Congenital Abnormality 5 3 0.780 strong 1.000 11 2 1996 2014
CUI: C2931923
Disease: Hyperkeratosis of the palms and soles and esophageal papillomas
Hyperkeratosis of the palms and soles and esophageal papillomas 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases Disease or Syndrome 5 3 0.010 None 1.000 1 1 2010 2010
CUI: C4707237
Disease: Striate palmoplantar keratoderma
Striate palmoplantar keratoderma 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 5 1 0.010 None 1.000 1 1 2006 2006
CUI: C0406811
Disease: Reticulate acropigmentation of Kitamura
Reticulate acropigmentation of Kitamura 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 5 5 0.300 None 0
CUI: C0079299
Disease: Epidermolysis Bullosa Simplex Kobner
Epidermolysis Bullosa Simplex Kobner 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Congenital Abnormality 7 28 0.730 strong 1.000 10 12 1993 2019