FZD6, frizzled class receptor 6, 8323

N. diseases: 57; N. variants: 4
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3279974
Disease: NAIL DISORDER, NONSYNDROMIC CONGENITAL, 10
NAIL DISORDER, NONSYNDROMIC CONGENITAL, 10 		0.700 Biomarker disease GENOMICS_ENGLAND Mutations in Frizzled 6 cause isolated autosomal-recessive nail dysplasia. 21665003 2011
CUI: C3279974
Disease: NAIL DISORDER, NONSYNDROMIC CONGENITAL, 10
NAIL DISORDER, NONSYNDROMIC CONGENITAL, 10 		0.700 GermlineCausalMutation disease ORPHANET Mutations in Frizzled 6 cause isolated autosomal-recessive nail dysplasia. 21665003 2011
CUI: C3279974
Disease: NAIL DISORDER, NONSYNDROMIC CONGENITAL, 10
NAIL DISORDER, NONSYNDROMIC CONGENITAL, 10 		0.700 GeneticVariation disease UNIPROT Mutations in Frizzled 6 cause isolated autosomal-recessive nail dysplasia. 21665003 2011
CUI: C3279974
Disease: NAIL DISORDER, NONSYNDROMIC CONGENITAL, 10
NAIL DISORDER, NONSYNDROMIC CONGENITAL, 10 		0.700 Biomarker disease CTD_human
CUI: C3279974
Disease: NAIL DISORDER, NONSYNDROMIC CONGENITAL, 10
NAIL DISORDER, NONSYNDROMIC CONGENITAL, 10 		0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C3279974
Disease: NAIL DISORDER, NONSYNDROMIC CONGENITAL, 10
NAIL DISORDER, NONSYNDROMIC CONGENITAL, 10 		0.700 CausalMutation disease CLINVAR
CUI: C0085661
Disease: Onycholysis
Onycholysis 		0.110 GeneticVariation disease BEFREE Inherited isolated nail anomaly manifesting with onychauxis and onycholysis is a rare condition, caused by mutations in the gene FZD6, encoding membrane-bound Wnt receptor protein. 22861124 2013
CUI: C0085661
Disease: Onycholysis
Onycholysis 		0.110 Biomarker disease HPO
CUI: C0455988
Disease: Hydrops Fetalis, Non-Immune
Hydrops Fetalis, Non-Immune 		0.100 GeneticVariation disease CLINVAR Identification of embryonic lethal genes in humans by autozygosity mapping and exome sequencing in consanguineous families. 26036949 2015
CUI: C0263536
Disease: Hypertrophy of nail
Hypertrophy of nail 		0.100 Biomarker disease HPO
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: C3279947
Disease: NAIL DISORDER, NONSYNDROMIC CONGENITAL, 9
NAIL DISORDER, NONSYNDROMIC CONGENITAL, 9 		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: C3279947
Disease: NAIL DISORDER, NONSYNDROMIC CONGENITAL, 9
NAIL DISORDER, NONSYNDROMIC CONGENITAL, 9 		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 A novel pathogenic variant in the FZD6 gene causes recessive nail dysplasia in a large Iranian kindred. 28545862 2017
CUI: C3279947
Disease: NAIL DISORDER, NONSYNDROMIC CONGENITAL, 9
NAIL DISORDER, NONSYNDROMIC CONGENITAL, 9 		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: C3279947
Disease: NAIL DISORDER, NONSYNDROMIC CONGENITAL, 9
NAIL DISORDER, NONSYNDROMIC CONGENITAL, 9 		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: C3279947
Disease: NAIL DISORDER, NONSYNDROMIC CONGENITAL, 9
NAIL DISORDER, NONSYNDROMIC CONGENITAL, 9 		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 Only recently, FZD6 mutations were identified in isolated nail dysplasia. 22211385 2012
CUI: C3279947
Disease: NAIL DISORDER, NONSYNDROMIC CONGENITAL, 9
NAIL DISORDER, NONSYNDROMIC CONGENITAL, 9 		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
CUI: C3279947
Disease: NAIL DISORDER, NONSYNDROMIC CONGENITAL, 9
NAIL DISORDER, NONSYNDROMIC CONGENITAL, 9 		0.070 GeneticVariation disease BEFREE Mutations in Frizzled 6 cause isolated autosomal-recessive nail dysplasia. 21665003 2011
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.030 Biomarker group BEFREE lncRNA PCAT-1 interacting with FZD6 contributes to the malignancy of acute myeloid leukemia cells through activating Wnt/β-catenin signaling pathway. 31814913 2019