Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 126410
Gene Symbol: CYP4F22
CYP4F22
CUI: C1858133
Disease: Ichthyosis, Nonlamellar and Nonerythrodermic, Congenital, Autosomal Recessive
Ichthyosis, Nonlamellar and Nonerythrodermic, Congenital, Autosomal Recessive 		0.600 CausalMutation CLINVAR Mutation update for CYP4F22 variants associated with autosomal recessive congenital ichthyosis. 30011118

2018
Entrez Id: 126410
Gene Symbol: CYP4F22
CYP4F22
CUI: C1858133
Disease: Ichthyosis, Nonlamellar and Nonerythrodermic, Congenital, Autosomal Recessive
Ichthyosis, Nonlamellar and Nonerythrodermic, Congenital, Autosomal Recessive 		0.600 CausalMutation CLINVAR Morphological alterations in two siblings with autosomal recessive congenital ichthyosis associated with CYP4F22 mutations. 27449533

2017
Entrez Id: 126410
Gene Symbol: CYP4F22
CYP4F22
CUI: C1858133
Disease: Ichthyosis, Nonlamellar and Nonerythrodermic, Congenital, Autosomal Recessive
Ichthyosis, Nonlamellar and Nonerythrodermic, Congenital, Autosomal Recessive 		0.600 CausalMutation CLINVAR Spectrum of Autosomal Recessive Congenital Ichthyosis in Scandinavia: Clinical Characteristics and Novel and Recurrent Mutations in 132 Patients. 27025581

2016
Entrez Id: 126410
Gene Symbol: CYP4F22
CYP4F22
CUI: C1858133
Disease: Ichthyosis, Nonlamellar and Nonerythrodermic, Congenital, Autosomal Recessive
Ichthyosis, Nonlamellar and Nonerythrodermic, Congenital, Autosomal Recessive 		0.600 CausalMutation CLINVAR Autosomal recessive congenital ichthyoses in the Czech Republic. 25998749

2016
Entrez Id: 126410
Gene Symbol: CYP4F22
CYP4F22
CUI: C1858133
Disease: Ichthyosis, Nonlamellar and Nonerythrodermic, Congenital, Autosomal Recessive
Ichthyosis, Nonlamellar and Nonerythrodermic, Congenital, Autosomal Recessive 		0.600 CausalMutation CLINVAR Role of molecular testing in the multidisciplinary diagnostic approach of ichthyosis. 26762237

2016
Entrez Id: 126410
Gene Symbol: CYP4F22
CYP4F22
CUI: C1858133
Disease: Ichthyosis, Nonlamellar and Nonerythrodermic, Congenital, Autosomal Recessive
Ichthyosis, Nonlamellar and Nonerythrodermic, Congenital, Autosomal Recessive 		0.600 CausalMutation CLINVAR Genotype and Anterior Segment Phenotype in a Cohort of Turkish Patients with Lamellar Ichthyosis. 24397709

2015
Entrez Id: 126410
Gene Symbol: CYP4F22
CYP4F22
CUI: C1858133
Disease: Ichthyosis, Nonlamellar and Nonerythrodermic, Congenital, Autosomal Recessive
Ichthyosis, Nonlamellar and Nonerythrodermic, Congenital, Autosomal Recessive 		0.600 CausalMutation CLINVAR Lamellar ichthyosis in a collodion baby caused by CYP4F22 mutations in a non-consanguineous family outside the Mediterranean. 23871423

2013
Entrez Id: 126410
Gene Symbol: CYP4F22
CYP4F22
CUI: C1858133
Disease: Ichthyosis, Nonlamellar and Nonerythrodermic, Congenital, Autosomal Recessive
Ichthyosis, Nonlamellar and Nonerythrodermic, Congenital, Autosomal Recessive 		0.600 CausalMutation CLINVAR Non-syndromic autosomal recessive congenital ichthyosis in the Israeli population. 23621129

2013
Entrez Id: 126410
Gene Symbol: CYP4F22
CYP4F22
CUI: C1858133
Disease: Ichthyosis, Nonlamellar and Nonerythrodermic, Congenital, Autosomal Recessive
Ichthyosis, Nonlamellar and Nonerythrodermic, Congenital, Autosomal Recessive 		0.600 CausalMutation CLINVAR Rapid detection of homozygous mutations in congenital recessive ichthyosis. 18034255

2008
Entrez Id: 126410
Gene Symbol: CYP4F22
CYP4F22
CUI: C1858133
Disease: Ichthyosis, Nonlamellar and Nonerythrodermic, Congenital, Autosomal Recessive
Ichthyosis, Nonlamellar and Nonerythrodermic, Congenital, Autosomal Recessive 		0.600 CausalMutation CLINVAR Mutations in a new cytochrome P450 gene in lamellar ichthyosis type 3. 16436457

2006
Entrez Id: 126410
Gene Symbol: CYP4F22
CYP4F22
CUI: C1858133
Disease: Ichthyosis, Nonlamellar and Nonerythrodermic, Congenital, Autosomal Recessive
Ichthyosis, Nonlamellar and Nonerythrodermic, Congenital, Autosomal Recessive 		0.600 GeneticVariation CLINVAR