TMC8, transmembrane channel like 8, 147138

N. diseases: 35; N. variants: 11
Disease: Epidermodysplasia Verruciformis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0014522
Disease: Epidermodysplasia Verruciformis
Epidermodysplasia Verruciformis 		0.600 GeneticVariation disease BEFREE In this issue, de Jong et al.(https://doi.org/10.1084/jem.20170308) identify bi-allelic loss-of-expression, loss-of-function mutations of the calcium- and integrin-binding protein 1 (<i>CIB1</i>) gene as a new cause of epidermodysplasia verruciformis (EV) and demonstrate that the CIB1 interacts with the EVER1 and EVER2 proteins to form a complex involved in keratinocyte-intrinsic immune response to human β-papillomaviruses (β-HPVs). 30068545 2018
CUI: C0014522
Disease: Epidermodysplasia Verruciformis
Epidermodysplasia Verruciformis 		0.600 Biomarker disease BEFREE Collectively, these findings suggest that the disruption of CIB1-EVER1-EVER2-dependent keratinocyte-intrinsic immunity underlies the selective susceptibility to β-HPVs of EV patients. 30068544 2018
CUI: C0014522
Disease: Epidermodysplasia Verruciformis
Epidermodysplasia Verruciformis 		0.600 Biomarker disease BEFREE A breakthrough in our understanding of EV was the discovery that homozygous inactivating mutations in TMC6 (EVER1) and TMC8 (EVER2) determine susceptibility to this disorder; however, they have not solved all EV cases fully. 28196644 2017
CUI: C0014522
Disease: Epidermodysplasia Verruciformis
Epidermodysplasia Verruciformis 		0.600 GeneticVariation disease BEFREE Novel TMC8 splice site mutation in epidermodysplasia verruciformis and review of HPV infections in patients with the disease. 28646613 2017
CUI: C0014522
Disease: Epidermodysplasia Verruciformis
Epidermodysplasia Verruciformis 		0.600 GeneticVariation disease BEFREE Inactivating mutations in EVER1/EVER2 account for most cases of EV. 27087313 2016
CUI: C0014522
Disease: Epidermodysplasia Verruciformis
Epidermodysplasia Verruciformis 		0.600 GeneticVariation disease BEFREE Epidermodysplasia Verruciformis is a rare condition of extreme susceptibility to cutaneous HPV infection primarily attributable to mutations in TMC6 and TMC8. 25853559 2015
CUI: C0014522
Disease: Epidermodysplasia Verruciformis
Epidermodysplasia Verruciformis 		0.600 GeneticVariation disease BEFREE Polymerase chain reaction amplification and sequencing of ECM1, EVER1, and EVER2 demonstrated a homozygous point mutation, c.389C>T (p.Thr130Met), in exon 6 of ECM1 and a heterozygous point mutation, c.917 A>T (p.Asn306Ile), in exon 8 in EVER2, known to cause EV in homozygous patients. 23534907 2015
CUI: C0014522
Disease: Epidermodysplasia Verruciformis
Epidermodysplasia Verruciformis 		0.600 GeneticVariation disease BEFREE Two genes (TMC6/EVER1 and TMC8/EVER2), mutated in epidermodysplasia verruciformis (EV) patients with an increased risk of cSCC development, contain numerous single-nucleotide polymorphisms (SNPs). 26227733 2015
CUI: C0014522
Disease: Epidermodysplasia Verruciformis
Epidermodysplasia Verruciformis 		0.600 GeneticVariation disease BEFREE To determine whether the rs7208422 polymorphism of the EVER2 gene is associated with AK in non-EV patients. 25495765 2015
CUI: C0014522
Disease: Epidermodysplasia Verruciformis
Epidermodysplasia Verruciformis 		0.600 AlteredExpression disease BEFREE Expression of the epidermodysplasia verruciformis-associated genes EVER1 and EVER2 is activated by exogenous DNA and inhibited by LMP1 oncoprotein from Epstein-Barr virus. 25378492 2015
CUI: C0014522
Disease: Epidermodysplasia Verruciformis
Epidermodysplasia Verruciformis 		0.600 GeneticVariation disease BEFREE Autosomal recessive EVER1 and EVER2 deficiencies account for EV in most patients. 22903682 2013
CUI: C0014522
Disease: Epidermodysplasia Verruciformis
Epidermodysplasia Verruciformis 		0.600 GeneticVariation disease BEFREE Inactivating mutations in epidermodysplasia verruciformis 1 (EVER1) or EVER2 have been identified in most, but not all, patients with autosomal recessive EV. 22850876 2012
CUI: C0014522
Disease: Epidermodysplasia Verruciformis
Epidermodysplasia Verruciformis 		0.600 Biomarker disease BEFREE Our study is a targeted candidate gene follow-up based on: (i) strong clinical evidence demonstrating that mutations in the TMC6 and TMC8 (EVER1 and EVER2) genes associate with the HPV-associated disease epidermodysplasia verruciformis (EV) and (ii) recent epidemiological data suggesting a genetic susceptibility conferred by polymorphisms in such genes for skin and CxCa. 21387292 2012
CUI: C0014522
Disease: Epidermodysplasia Verruciformis
Epidermodysplasia Verruciformis 		0.600 Biomarker disease BEFREE Autosomal recessive (AR) EVER1 and EVER2 deficiencies account for two thirds of known cases of EV. 22952854 2012
CUI: C0014522
Disease: Epidermodysplasia Verruciformis
Epidermodysplasia Verruciformis 		0.600 GeneticVariation disease BEFREE Homozygosity for the c.917A→T (p.N306l) polymorphism in the EVER2/TMC8 gene of two sisters with epidermodysplasia verruciformis Lewandowsky-Lutz originally described by Wilhelm Lutz. 21196704 2011
CUI: C0014522
Disease: Epidermodysplasia Verruciformis
Epidermodysplasia Verruciformis 		0.600 GeneticVariation disease BEFREE We present epidermodysplasia verruciformis in a father and a son with typical histologic and clinical findings that occur in the absence of mutations in EVER1 or EVER2. 19706093 2009
CUI: C0014522
Disease: Epidermodysplasia Verruciformis
Epidermodysplasia Verruciformis 		0.600 GeneticVariation disease BEFREE Epidermodysplasia verruciformis in a HIV-positive patient homozygous for the c917A-->T polymorphism in the TMC8/EVER2 gene. 19005244 2009
CUI: C0014522
Disease: Epidermodysplasia Verruciformis
Epidermodysplasia Verruciformis 		0.600 Biomarker disease BEFREE Inactivating mutations in either of the related EVER1/TMC6 and EVER2/TMC8 genes cause most EV cases. 18727487 2008
CUI: C0014522
Disease: Epidermodysplasia Verruciformis
Epidermodysplasia Verruciformis 		0.600 GeneticVariation disease LHGDN Novel homozygous nonsense TMC8 mutation detected in patients with epidermodysplasia verruciformis from a Brazilian family. 17711520 2007
CUI: C0014522
Disease: Epidermodysplasia Verruciformis
Epidermodysplasia Verruciformis 		0.600 GeneticVariation disease BEFREE We describe a patient with EV and a novel homozygous gene mutation of EVER2 gene who was treated successfully with topical imiquimod. 17368633 2007
CUI: C0014522
Disease: Epidermodysplasia Verruciformis
Epidermodysplasia Verruciformis 		0.600 Biomarker disease BEFREE The growing number of mutations in EV pedigrees supports the hypothesis that EVER1 and EVER2 are the molecular basis of EV. 17008061 2006
CUI: C0014522
Disease: Epidermodysplasia Verruciformis
Epidermodysplasia Verruciformis 		0.600 GeneticVariation disease BEFREE In this study, we performed mutation detection for the EVER1 and EVER2 genes on samples from a Chinese patient with EV, who had consanguineous parents. 16045695 2005
CUI: C0014522
Disease: Epidermodysplasia Verruciformis
Epidermodysplasia Verruciformis 		0.600 Biomarker disease BEFREE TMC6 and TMC8 are identical to the EVER1 and EVER2 genes implicated in epidermodysplasia verruciformis, a recessive disorder comprising susceptibility to cutaneous human papilloma virus infections and associated nonmelanoma skin cancers, providing additional genetic and tissue systems in which to study the TMC gene family. 12906855 2003
CUI: C0014522
Disease: Epidermodysplasia Verruciformis
Epidermodysplasia Verruciformis 		0.600 GeneticVariation disease LHGDN Mutations in two adjacent novel genes are associated with epidermodysplasia verruciformis. 12426567 2002
CUI: C0014522
Disease: Epidermodysplasia Verruciformis
Epidermodysplasia Verruciformis 		0.600 GermlineCausalMutation disease ORPHANET Mutations in two adjacent novel genes are associated with epidermodysplasia verruciformis. 12426567 2002