KRT5, keratin 5, 3852

N. diseases: 203; N. variants: 58
Disease: dowling-degos disease ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3714534
Disease: dowling-degos disease
dowling-degos disease 		0.700 GeneticVariation disease BEFREE Keratin 5 mutations in Dowling-Degos Disease (DDD) have already been associated with the pheomelanosome-eumelanosome transition. 31692218 2019
CUI: C3714534
Disease: dowling-degos disease
dowling-degos disease 		0.700 Biomarker disease BEFREE This study investigated whether the pesticide DDT (Dichlorodiphenyltrichloroethane) and its metabolites, DDE (Dichlorodiphenyldichloroethylene) and DDD (Dichlorobischlorophenylethane) were associated with adverse effects on multiple endpoints of the eggs of House Sparrows from the Thohoyandou area in South Africa, where DDT is used for malaria control. 29421736 2018
CUI: C3714534
Disease: dowling-degos disease
dowling-degos disease 		0.700 Biomarker disease BEFREE In organisms, DDT (Dichlorodiphenyltrichloroethane) and its metabolites, DDE (Dichlorodiphenyldichloroethylene) and DDD (Dichlorobischlorophenylethane) are endocrine mimics. 30179838 2018
CUI: C3714534
Disease: dowling-degos disease
dowling-degos disease 		0.700 GeneticVariation disease BEFREE Here, we have identified 6 heterozygous truncating mutations in PSENEN, encoding presenilin enhancer protein 2, in 6 unrelated patients and families with DDD in whom mutations in KRT5, POFUT1, and POGLUT1 have been excluded. 28287404 2017
CUI: C3714534
Disease: dowling-degos disease
dowling-degos disease 		0.700 Biomarker disease BEFREE The WHO/ATC (Anatomical Therapeutic Chemical) index DDD (WHO-DDD) is commonly used for drug consumption measurement. 29091214 2017
CUI: C3714534
Disease: dowling-degos disease
dowling-degos disease 		0.700 Biomarker disease BEFREE Though KRT5 has been identified to be the causal gene of DDD, the heterogeneity of this disease was displayed: for example, POFUT1 and POGLUT1 were recently identified and confirmed to be additional pathogenic genes of DDD. 25157627 2014
CUI: C3714534
Disease: dowling-degos disease
dowling-degos disease 		0.700 GeneticVariation disease BEFREE We searched for mutations in the KRT5 gene, a causative gene for the similar pigmentation disorder Dowling-Degos disease (DDD), in all the patients and found no KRT5 mutation. 23666529 2013
CUI: C3714534
Disease: dowling-degos disease
dowling-degos disease 		0.700 GeneticVariation disease BEFREE In this study, we collected DNA samples from a large Chinese family affected by generalized DDD and found no mutation of KRT5. 23684010 2013
CUI: C3714534
Disease: dowling-degos disease
dowling-degos disease 		0.700 GeneticVariation disease BEFREE A novel heterozygous nonsense mutation of keratin 5 in a Chinese family with Dowling-Degos disease. 21569119 2012
CUI: C3714534
Disease: dowling-degos disease
dowling-degos disease 		0.700 GeneticVariation disease BEFREE Mutations in the keratin 5 gene (KRT5) have been identified in the majority of patients with DDD and in a small number of patients with GGD. 20222933 2010
CUI: C3714534
Disease: dowling-degos disease
dowling-degos disease 		0.700 GeneticVariation disease BEFREE We identified for the first time a patient with compound heterozygosity for KRT5 mutations causing Dowling-Degos disease and EBS. 20199538 2010
CUI: C3714534
Disease: dowling-degos disease
dowling-degos disease 		0.700 GeneticVariation disease BEFREE Dowling-Degos disease (DDD) is an unusual pigmentary disorder usually caused by mutations in keratin 5. 20332593 2010
CUI: C3714534
Disease: dowling-degos disease
dowling-degos disease 		0.700 GeneticVariation disease BEFREE By direct DNA sequencing, we have identified a frameshift mutation in exon 1 of KRT5 in the proband from an extended Spanish DDD kindred. 16917491 2007
CUI: C3714534
Disease: dowling-degos disease
dowling-degos disease 		0.700 GermlineCausalMutation disease ORPHANET We identified loss-of-function mutations in the keratin 5 gene (KRT5) in all affected family members and in six unrelated patients with DDD. 16465624 2006
CUI: C3714534
Disease: dowling-degos disease
dowling-degos disease 		0.700 GeneticVariation disease BEFREE We identified loss-of-function mutations in the keratin 5 gene (KRT5) in all affected family members and in six unrelated patients with DDD. 16465624 2006
CUI: C3714534
Disease: dowling-degos disease
dowling-degos disease 		0.700 Biomarker disease GENOMICS_ENGLAND We identified loss-of-function mutations in the keratin 5 gene (KRT5) in all affected family members and in six unrelated patients with DDD. 16465624 2006
CUI: C3714534
Disease: dowling-degos disease
dowling-degos disease 		0.700 Biomarker disease CTD_human