Disease: Ichthyosiform Erythroderma, Congenital ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0079583
Disease: Ichthyosiform Erythroderma, Congenital
Ichthyosiform Erythroderma, Congenital 		0.040 GeneticVariation disease BEFREE Mutations in CYP4F22 cause autosomal recessive congenital ichthyosis, although the symptoms vary among mutation sites and types. 31356814 2020
CUI: C0079583
Disease: Ichthyosiform Erythroderma, Congenital
Ichthyosiform Erythroderma, Congenital 		0.040 GeneticVariation disease BEFREE Mutation update for CYP4F22 variants associated with autosomal recessive congenital ichthyosis. 30011118 2018
CUI: C0079583
Disease: Ichthyosiform Erythroderma, Congenital
Ichthyosiform Erythroderma, Congenital 		0.040 GeneticVariation disease BEFREE Morphological alterations in two siblings with autosomal recessive congenital ichthyosis associated with CYP4F22 mutations. 27449533 2017
CUI: C0079583
Disease: Ichthyosiform Erythroderma, Congenital
Ichthyosiform Erythroderma, Congenital 		0.040 GeneticVariation disease BEFREE Analysis of TGM1, ALOX12B, ALOXE3, NIPAL4 and CYP4F22 in autosomal recessive congenital ichthyosis from Galicia (NW Spain): evidence of founder effects. 21668430 2011