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: 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: C0079298
Disease: Epidermolysis Bullosa Simplex
Epidermolysis Bullosa Simplex 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 30 33 0.900 strong 0.985 68 16 1991 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: 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
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: 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: 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: 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: C0596263
Disease: Carcinogenesis
Carcinogenesis 		phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 6243 355 0.050 None 1.000 5 2 1998 2019
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma 		group Neoplasms Neoplastic Process 2235 168 0.070 None 0.857 7 1 2006 2017
CUI: C4721806
Disease: Carcinoma, Basal Cell
Carcinoma, Basal Cell 		disease Neoplasms Neoplastic Process 557 91 0.350 None 1.000 6 1 2002 2019
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 3926 712 0.030 None 1.000 3 1 2010 2012
CUI: C0751676
Disease: Basal Cell Cancer
Basal Cell Cancer 		disease Neoplasms Neoplastic Process 64 109 0.100 None 1.000 3 1 2015 2019
CUI: C0007117
Disease: Basal cell carcinoma
Basal cell carcinoma 		disease Neoplasms Neoplastic Process 108 109 0.100 None 1.000 3 1 2015 2019
CUI: C3811653
Disease: Experimental Organism Basal Cell Carcinoma
Experimental Organism Basal Cell Carcinoma 		phenotype Neoplasms Neoplastic Process 437 63 0.030 None 1.000 3 1 2009 2019
CUI: C0206710
Disease: Basal Cell Neoplasm
Basal Cell Neoplasm 		disease Neoplasms Neoplastic Process 58 109 0.100 None 1.000 3 1 2015 2019
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms 		group Neoplasms; Nervous System Diseases Neoplastic Process 1018 204 0.010 None 1.000 1 1 2015 2015
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: 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: 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: 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: 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: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6776 2793 0.400 None 1.000 19 2004 2019
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6941 3417 0.400 None 1.000 18 2003 2019
CUI: C0027651
Disease: Neoplasms
Neoplasms 		group Neoplasms Neoplastic Process 10161 1644 0.100 None 0.938 16 2002 2019