FZD6, frizzled class receptor 6, 8323

N. diseases: 57; N. variants: 4
Disease: Nail dysplasia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1834405
Disease: Nail dysplasia
Nail dysplasia 		0.070 GeneticVariation disease BEFREE We identified a homozygous deletion mutation in FZD6 in a consanguineous Turkish family with nail dysplasia. 30642273 2019
CUI: C1834405
Disease: Nail dysplasia
Nail dysplasia 		0.070 GeneticVariation disease BEFREE Few case reports have identified mutations in the Frizzled 6 (<i>FZD6</i>) gene in families presenting with abnormal nails consistent with Non-Syndromic Congenital Nail Dysplasia. 31497560 2019
CUI: C1834405
Disease: Nail dysplasia
Nail dysplasia 		0.070 GeneticVariation disease BEFREE A novel pathogenic variant in the FZD6 gene causes recessive nail dysplasia in a large Iranian kindred. 28545862 2017
CUI: C1834405
Disease: Nail dysplasia
Nail dysplasia 		0.070 GeneticVariation disease BEFREE The molecular mechanism of nail (and claw) development is largely unknown, but we have recently identified a Wnt receptor gene, Frizzled6 (Fzd6), that is mutated in a human autosomal-recessive nail dysplasia. 23439395 2013
CUI: C1834405
Disease: Nail dysplasia
Nail dysplasia 		0.070 GeneticVariation disease BEFREE To search for sequence variants in the gene FZD6 in three individuals of a consanguineous family exhibiting features of nail dysplasia. 22861124 2013
CUI: C1834405
Disease: Nail dysplasia
Nail dysplasia 		0.070 GeneticVariation disease BEFREE Only recently, FZD6 mutations were identified in isolated nail dysplasia. 22211385 2012
CUI: C1834405
Disease: Nail dysplasia
Nail dysplasia 		0.070 GeneticVariation disease BEFREE Mutations in Frizzled 6 cause isolated autosomal-recessive nail dysplasia. 21665003 2011