KRT1, keratin 1, 3848

N. diseases: 100; N. variants: 26
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: C0079153
Disease: Hyperkeratosis, Epidermolytic
Hyperkeratosis, Epidermolytic 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Congenital Abnormality 20 35 1.000 None 0.951 41 18 1992 2019
CUI: C1833030
Disease: PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC
PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 8 1 0.720 strong 1.000 5 1 1994 2018
CUI: C1843463
Disease: Ichthyosis, Cyclic, with Epidermolytic Hyperkeratosis
Ichthyosis, Cyclic, with Epidermolytic Hyperkeratosis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 6 5 0.710 strong 1.000 5 2 1994 2018
CUI: C1721006
Disease: Keratoderma, Palmoplantar, Epidermolytic
Keratoderma, Palmoplantar, Epidermolytic 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 7 16 0.670 None 1.000 7 1 2001 2018
CUI: C1840296
Disease: Ichthyosis hystrix, Curth Macklin type
Ichthyosis hystrix, Curth Macklin type 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 1 0.610 strong 1.000 3 1994 2006
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 0.500 None 1.000 13 1995 2019
CUI: C2931735
Disease: Epidermolytic palmoplantar keratoderma Vorner type
Epidermolytic palmoplantar keratoderma Vorner type 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 3 0.500 None 1.000 1 2006 2006
CUI: C0022584
Disease: Keratoderma, Palmoplantar, Diffuse
Keratoderma, Palmoplantar, Diffuse 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 13 1 0.440 strong 1.000 6 1 1994 2018
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 0.440 None 1.000 4 1 2015 2019
CUI: C4707237
Disease: Striate palmoplantar keratoderma
Striate palmoplantar keratoderma 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 5 1 0.320 None 1.000 3 2002 2009
CUI: C0037286
Disease: Skin Neoplasms
Skin Neoplasms 		group Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 363 9 0.320 None 1.000 3 1998 2013
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma 		disease Neoplasms Neoplastic Process 2507 257 0.310 None 1.000 2 2008 2019
CUI: C0432307
Disease: Ichthyosis hystrix of Curth-Macklin
Ichthyosis hystrix of Curth-Macklin 		disease Congenital Abnormality 2 0.310 None 1.000 1 2018 2018
CUI: C0007114
Disease: Malignant neoplasm of skin
Malignant neoplasm of skin 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 508 38 0.300 None 1.000 1 2008 2008
CUI: C1835671
Disease: Keratoderma palmoplantar spastic paralysis
Keratoderma palmoplantar spastic paralysis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Nervous System Diseases Disease or Syndrome 2 0.300 None 1.000 1 2017 2017
CUI: C1836681
Disease: Erythrokeratoderma, Reticular
Erythrokeratoderma, Reticular 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 2 0.300 None 1.000 1 2015 2015
CUI: C0343110
Disease: Epidermolytic palmoplantar keratoderma of Vorner
Epidermolytic palmoplantar keratoderma of Vorner 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Congenital Abnormality 3 0.300 None 1.000 1 2006 2006
CUI: C2931123
Disease: Keratosis palmoplantaris striata 3
Keratosis palmoplantaris striata 3 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 1 0.300 None 0
CUI: C2936837
Disease: Keratosis of Greither
Keratosis of Greither 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 2 0.300 None 0
CUI: C0022596
Disease: Palmoplantar Keratosis
Palmoplantar Keratosis 		disease Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome 39 6 0.120 None 1.000 2 2012 2014
CUI: C0011606
Disease: Exfoliative dermatitis
Exfoliative dermatitis 		disease Skin and Connective Tissue Diseases Disease or Syndrome 64 2 0.110 None 1.000 1 1999 1999
CUI: C0013595
Disease: Eczema
Eczema 		disease Skin and Connective Tissue Diseases Disease or Syndrome 863 368 0.110 None 1.000 1 1996 1996
CUI: C3665596
Disease: Warts
Warts 		disease Infections; Skin and Connective Tissue Diseases Neoplastic Process 39 3 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: C0037299
Disease: Skin Ulcer
Skin Ulcer 		phenotype Skin and Connective Tissue Diseases Disease or Syndrome 151 1 0.100 None 0