KRT16, keratin 16, 3868

N. diseases: 97; N. variants: 14
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0022584
Disease: Keratoderma, Palmoplantar, Diffuse
Keratoderma, Palmoplantar, Diffuse 		0.240 GeneticVariation disease BEFREE Gain-of-function mutations in iRHOM2 underlie Tylosis with oesophageal cancer (TOC), characterized by palmoplantar thickening, upregulate K16 with robust downregulation of its type II keratin binding partner, K6. 28128203 2017
CUI: C4551675
Disease: Keratoderma, Palmoplantar
Keratoderma, Palmoplantar 		0.140 Biomarker disease BEFREE There are three main stages of progression of PPK-like lesions in Krt16 null mice. 31021398 2020
CUI: C4551675
Disease: Keratoderma, Palmoplantar
Keratoderma, Palmoplantar 		0.140 GeneticVariation disease BEFREE Our cases for comparison included 4 cases with Mal de Meleda PPK associated with autosomal-recessive SLURP1 mutations, one case with pachyonychia congenita type II PPK associated with an autosomal-dominant KRT17 mutation, and one case with focal PPK associated with an autosomal-dominant KRT16 mutation. 20082890 2010
CUI: C4551675
Disease: Keratoderma, Palmoplantar
Keratoderma, Palmoplantar 		0.140 GeneticVariation disease BEFREE Dominantly acting missense alleles in KRT16 are causative for pachyonychia congenita (PC), a genodermatosis involving debilitating palmoplantar keratoderma (PPK), nail dystrophy, oral lesions and, frequently, alterations in glands and hair. 29406601 2018
CUI: C4551675
Disease: Keratoderma, Palmoplantar
Keratoderma, Palmoplantar 		0.140 Biomarker disease BEFREE Topical application of the NRF2 activator sulforaphane to the footpad of Krt16-/- mice prevented the development of PPK and normalized redox balance via regeneration of GSH from existing cellular pools. 27183391 2016
CUI: C0221260
Disease: Dystrophia unguium
Dystrophia unguium 		0.120 GeneticVariation disease BEFREE Dominantly acting missense alleles in KRT16 are causative for pachyonychia congenita (PC), a genodermatosis involving debilitating palmoplantar keratoderma (PPK), nail dystrophy, oral lesions and, frequently, alterations in glands and hair. 29406601 2018
CUI: C0221260
Disease: Dystrophia unguium
Dystrophia unguium 		0.120 Biomarker disease BEFREE Mutations in the type I keratin 16 (Krt16) and its partner type II keratin 6 (Krt6a, Krt6b) cause pachyonychia congenita (PC), a disorder typified by dystrophic nails, painful hyperkeratotic calluses in glabrous skin, and lesions involving other epithelial appendages. 24218583 2013
CUI: C0013595
Disease: Eczema
Eczema 		0.110 GeneticVariation disease BEFREE SCORAD correlated with immune (IL-13, IL-22) and epidermal (thickness, K16) measures in lesional and, even more strongly, in nonlesional AD. 27825969 2017
CUI: C0020757
Disease: Ichthyoses
Ichthyoses 		0.110 AlteredExpression disease BEFREE Ichthyosis samples showed increased epidermal hyperplasia (increased thickness and keratin 16 expression) and T-cell and dendritic cell infiltrates. 27554821 2017
CUI: C0023532
Disease: Leukoplakia, Oral
Leukoplakia, Oral 		0.110 Biomarker disease BEFREE Pachyonychia congenita type 1 (PC-1) is an autosomal dominant ectodermal dysplasia characterized by hypertrophic nail dystrophy, focal non-epidermolytic palmoplantar keratoderma and variable features of oral leukokeratosis and follicular keratosis. 10232400 1999
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.050 Biomarker disease BEFREE The PC-1 gene has been associated with dyslipidemia, polycystic ovarian disease and T2DM in different regions of the world. 31250990 2019
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.050 GeneticVariation disease BEFREE We conclude that the interaction between the K121Q polymorphism of the PC-1 gene and birth length affects insulin sensitivity and increases susceptibility to type 2 diabetes and hypertension in adulthood. 15126519 2004
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.050 GeneticVariation disease BEFREE In conclusion, the K121Q polymorphism of the human PC-1 gene is not associated with type 2 diabetes or insulin resistance among Danish Caucasians. 10969849 2000
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.050 Biomarker disease BEFREE The present study shows that, although the Q allele of the human glycoprotein PC-1 gene is associated with surrogate measures of insulin resistance, it may not be enough to increase the susceptibility to type 2 diabetes. 10969847 2000
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.050 GeneticVariation disease BEFREE The K121Q polymorphism of the ENPP1/PC-1 gene is associated with insulin resistance/atherogenic phenotypes, including earlier onset of type 2 diabetes and myocardial infarction. 16186408 2005
CUI: C0028754
Disease: Obesity
Obesity 		0.050 GeneticVariation disease BEFREE The results from the present study have indicated that ENPP1/PC1 Q121 variant may increase the risk of obesity and that more well-designed studies based on a larger population will be required to further evaluate the role of ENPP1/PC1 gene K121Q polymorphism in obesity and other related metabolic syndromes. 21565692 2011
CUI: C0028754
Disease: Obesity
Obesity 		0.050 GeneticVariation disease BEFREE We investigated whether the PC-1 gene modulates insulin sensitivity independently of weight status (i.e. both in nonobese and obese individuals). 11739459 2001
CUI: C0028754
Disease: Obesity
Obesity 		0.050 Biomarker disease BEFREE This study was designed to estimate the possibility of utilizing psoriasin, nestin, keratin-16 (Krt16), and interleukin-21 (IL-21) as biochemical markers of psoriasis, to correlate these candidate psoriatic markers with biomarkers of obesity [body mass index (BMI), leptin, and resistin], and to elucidate the bidirectional association between obesity and psoriasis. 29252076 2018
CUI: C0028754
Disease: Obesity
Obesity 		0.050 GeneticVariation disease BEFREE Amerindians show no association of PC-1 gene Gln121 allele and obesity: a thrifty gene population genetics. 22327785 2012
CUI: C0028754
Disease: Obesity
Obesity 		0.050 GeneticVariation disease BEFREE The purpose of this study was to determine whether K121Q polymorphism in PC-1 gene is involved in obesity susceptibility in Chinese Han population. 17026496 2006
CUI: C0870082
Disease: Hyperkeratosis
Hyperkeratosis 		0.050 Biomarker disease BEFREE Here, we report that overexpression of a wild-type human K16 gene in a tissue-specific fashion in transgenic mice causes aberrant keratinization of the hair follicle outer root sheath and proximal epidermis, and it leads to hyperproliferation and increased thickness of the living layers (acanthosis), as well as cornified layers (hyperkeratosis). 7523421 1994
CUI: C0870082
Disease: Hyperkeratosis
Hyperkeratosis 		0.050 GeneticVariation disease BEFREE Tylosis (focal non-epidermolytic palmoplantar keratoderma; NEPPK) is associated with esophageal cancer in three families, two of which contain six or seven generations. 10631907 1999
CUI: C0870082
Disease: Hyperkeratosis
Hyperkeratosis 		0.050 GeneticVariation disease BEFREE Moreover, a genetic locus for hereditary focal non-epidermolytic palmoplantar keratoderma, a condition associated with cancer of the esophagus (TOC; Tylosis with Oesophageal Cancer), lies in the same region. 11346464 2001
CUI: C0870082
Disease: Hyperkeratosis
Hyperkeratosis 		0.050 GeneticVariation disease BEFREE Gain-of-function mutations in iRHOM2 underlie Tylosis with oesophageal cancer (TOC), characterized by palmoplantar thickening, upregulate K16 with robust downregulation of its type II keratin binding partner, K6. 28128203 2017
CUI: C0870082
Disease: Hyperkeratosis
Hyperkeratosis 		0.050 GeneticVariation disease BEFREE Moreover, a locus responsible for hereditary focal non-epidermolytic palmoplantar keratoderma (tylosis oesophageal cancer; TOC), a condition associated with esophageal cancer, has been mapped to the same band. 12691822 2003