Disease Details | GeDiPNet - Gene Disease Associations & Pathways

Disease Term	Disease ID	Gene Symbol	Classification	References	Source
AUTOSOMAL DOMINANT LAMELLAR ICHTHYOSIS		ASPRV1	Causal	—	ClinVar
LAMELLAR ICHTHYOSIS	313 MONDO:0017778 C5848247	ABCA12	Causal	20301593 22739337	CTD Orphanet
		ALOX12B	Causal	20301593 22739337	GWAS catalog Orphanet
		ALOXE3	Causal	19131948 21668430 25423909	GWAS catalog Orphanet
		CERS3	Causal	—	Disgenet
		CYP4F22	Causal	20301593 22739337	Disgenet
		NIPAL4	Causal	20301593 22739337	Disgenet
		PNPLA1	Causal	—	Disgenet
		SDR9C7	Causal	28369735 28906551	Disgenet
		SLC27A4	Causal	—	Disgenet
		TGM1	Causal	20301593 22739337	Disgenet
		ABHD5	Unknown	—	Disgenet
		ASPRV1	Unknown	32516568	Orphanet
		LIPN	Unknown	21439540	Disgenet
		SULT2B1	Unknown	28575648	Disgenet
LAMELLAR ICHTHYOSIS, AUTOSOMAL DOMINANT FORM	C0432304	ASPRV1	Unknown	—	Disgenet
LAMELLAR ICHTHYOSIS, TYPE 2	C1832550 MESH:C537264	ABCA12	Unknown	—	CTD Disgenet
LAMELLAR ICHTHYOSIS, TYPE 3	MESH:C537265	CYP4F22	Unknown	—	CTD

Lamellar ichthyosis