Congenital ichthyosis | Gene-Disease Associations & Pathways | GeDiPNet

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Pathways column key: KEGG Reactome

Disease Term	Disease ID	Gene Symbol	Classification	References	Source	Pathways
AUTOSOMAL RECESSIVE CONGENITAL ICHTHYOSIS 11	MONDO:0011218	KRT1	Unknown	—	GenCC	Neutrophil degranulation Keratinization Formation of the cornified envelope
AUTOSOMAL RECESSIVE CONGENITAL ICHTHYOSIS 8	MONDO:0013495	LIPN	Unknown	21439540	ClinVar, GenCC	Formation of the cornified envelope
CONGENITAL ICHTHYOSIS	C0020758	ABCA12	Unknown	—	Disgenet	ABC transporters ABC transporters in lipid homeostasis Defective ABCA12 causes autosomal recessive congenital ichthyosis type 4B
CONGENITAL ICHTHYOSIS	C0020758	SDR9C7	Unknown	—	Disgenet	The canonical retinoid cycle in rods (twilight vision)
CONGENITAL ICHTHYOSIS OF SKIN		CASP14	Unknown	—	ClinVar	Formation of the cornified envelope