GJB2, gap junction protein beta 2, 2706

N. diseases: 392; N. variants: 132
Disease: Nevus ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0027960
Disease: Nevus
Nevus 		0.010 GeneticVariation disease BEFREE In 2009 the term porokeratotic anexial ostial nevus was proposed to comprehend porokeratotic eccrine and hair follicle nevus and a related and more common process without follicular involvement: porokeratotic eccrine ostial and dermal duct nevus Recent findings suggest that both entities may be produced by a mutation in GJB2 gene, which is associated to KID syndrome. 29267468 2017