Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0014522
Disease: Epidermodysplasia Verruciformis
Epidermodysplasia Verruciformis
0.310 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
0.310 GermlineCausalMutation disease ORPHANET 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