KRT16, keratin 16, 3868

N. diseases: 97; N. variants: 14
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: C1706595
Disease: Pachyonychia Congenita, Jadassohn Lewandowsky Type
Pachyonychia Congenita, Jadassohn Lewandowsky Type 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 8 19 0.950 strong 1.000 13 12 1995 2013
CUI: C4552049
Disease: PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC, FOCAL 1
PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC, FOCAL 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases Disease or Syndrome 2 5 0.700 strong 1.000 3 3 1995 2011
CUI: C0265334
Disease: Pachyonychia Congenita
Pachyonychia Congenita 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 18 7 0.600 None 1.000 18 1 2001 2020
CUI: C1721007
Disease: Pachyonychia Congenita, Type 2 (disorder)
Pachyonychia Congenita, Type 2 (disorder) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 5 13 0.500 None 0
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 0.400 None 1.000 1 1995 1995
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 2130 281 0.300 None 1.000 1 2010 2010
CUI: C0005684
Disease: Malignant neoplasm of urinary bladder
Malignant neoplasm of urinary bladder 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 2113 316 0.300 None 1.000 1 2010 2010
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 1995 1995
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 0.300 None 1.000 1 1995 1995
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 0.240 None 1.000 5 1999 2017
CUI: C0279626
Disease: Squamous cell carcinoma of esophagus
Squamous cell carcinoma of esophagus 		disease Digestive System Diseases; Neoplasms Neoplastic Process 2053 329 0.200 None 1.000 1 1996 1996
CUI: C3489771
Disease: Keratosis Palmaris et Plantaris Familiaris
Keratosis Palmaris et Plantaris Familiaris 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 2 0.200 None 1.000 1 2012 2012
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 0.140 None 1.000 4 2010 2020
CUI: C0221260
Disease: Dystrophia unguium
Dystrophia unguium 		disease Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome 81 9 0.120 None 1.000 2 2013 2018
CUI: C0023532
Disease: Leukoplakia, Oral
Leukoplakia, Oral 		disease Pathological Conditions, Signs and Symptoms; Neoplasms; Stomatognathic Diseases Neoplastic Process 144 6 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 2017 2017
CUI: C0020757
Disease: Ichthyoses
Ichthyoses 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 194 18 0.110 None 1.000 1 2017 2017
CUI: C2132198
Disease: Abnormal blistering of the skin
Abnormal blistering of the skin 		phenotype Finding 75 10 0.100 None 0
CUI: C4020960
Disease: Abnormality of nail color
Abnormality of nail color 		disease Pathological Conditions, Signs and Symptoms Finding 8 0.100 None 0
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		disease Mental Disorders Mental or Behavioral Dysfunction 1630 348 0.100 None 0
CUI: C0035229
Disease: Respiratory Insufficiency
Respiratory Insufficiency 		phenotype Respiratory Tract Diseases Pathologic Function 315 15 0.100 None 0
CUI: C0334013
Disease: Phrynoderma
Phrynoderma 		disease Skin and Connective Tissue Diseases Disease or Syndrome 19 3 0.100 None 0
CUI: C0265998
Disease: ANONYCHIA
ANONYCHIA 		disease Pathological Conditions, Signs and Symptoms Congenital Abnormality 30 2 0.100 None 0
CUI: C0264303
Disease: Laryngomalacia
Laryngomalacia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Respiratory Tract Diseases; Otorhinolaryngologic Diseases Congenital Abnormality 67 18 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