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.
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: 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
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: 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
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: C3714534
Disease: dowling-degos disease
dowling-degos disease
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 53 7 0.700 strong 1.000 14 2006 2019
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: 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: 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
EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE 1
disease Disease or Syndrome 2 9 0.400 None 1.000 1 3 2002 2002
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: C0007097
Disease: Carcinoma
Carcinoma
group Neoplasms Neoplastic Process 2462 103 0.340 None 1.000 5 1999 2019
CUI: C0014527
Disease: Epidermolysis Bullosa
Epidermolysis Bullosa
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Congenital Abnormality 47 3 0.330 strong 1.000 4 2006 2018
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
group Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 2780 385 0.320 None 1.000 3 2002 2016
CUI: C0205697
Disease: Carcinoma, Spindle-Cell
Carcinoma, Spindle-Cell
disease Neoplasms Neoplastic Process 218 5 0.310 None 1.000 2 2002 2018
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: C1368275
Disease: Pigmented Basal Cell Carcinoma
Pigmented Basal Cell Carcinoma
disease Neoplasms Neoplastic Process 28 0.300 None 1.000 2 2009 2010
CUI: C0205696
Disease: Anaplastic carcinoma
Anaplastic carcinoma
disease Neoplasms Neoplastic Process 232 3 0.300 None 1.000 1 2002 2002
CUI: C4704874
Disease: Mammary Carcinoma, Human
Mammary Carcinoma, Human
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 545 0.300 None 1.000 1 2014 2014
CUI: C0010606
Disease: Adenoid Cystic Carcinoma
Adenoid Cystic Carcinoma
disease Neoplasms Neoplastic Process 325 30 0.300 None 1.000 1 2006 2006
CUI: C0007621
Disease: Neoplastic Cell Transformation
Neoplastic Cell Transformation
phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 143 0.300 None 1.000 1 2012 2012
CUI: C0024667
Disease: Animal Mammary Neoplasms
Animal Mammary Neoplasms
phenotype Neoplasms; Animal Diseases Neoplastic Process 147 0.300 None 1.000 1 2002 2002
CUI: C0024668
Disease: Mammary Neoplasms, Experimental
Mammary Neoplasms, Experimental
phenotype Neoplasms Neoplastic Process; Experimental Model of Disease 218 0.300 None 1.000 1 2002 2002
CUI: C0205699
Disease: Carcinomatosis
Carcinomatosis
phenotype Neoplasms Neoplastic Process 186 2 0.300 None 1.000 1 2002 2002