Erythrokeratodermia variabilis | Gene-Disease Associations & Pathways | GeDiPNet

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Pathways column key: KEGG Reactome

Disease Term	Disease ID	Gene Symbol	Classification	References	Source	Pathways
ERYTHROKERATODERMIA VARIABILIS	317 C0265961 MONDO:0017851 MESH:D056266	GJA1	Unknown	25398053	Disgenet, GenCC, Orphanet	Gap junction Arrhythmogenic right ventricular cardiomyopathy Microtubule-dependent trafficking of connexons from Golgi to the plasma membrane +4 more
		GJB3	Unknown	10594760 10798362 12176042 15948974 18482034 20497287 21188847 21564177 21879244 21920315 21950330 22393412 22681493 23442023 25297803 25556823 26251042 26632638 31793497 31912549 35663771 35677558 9843209	CTD, ClinGen, ClinVar, Disgenet, Orphanet	Gap junction assembly
		GJB4	Unknown	23037955	Disgenet, GWAS catalog, Orphanet	Gap junction assembly
		KDSR	Unknown	28575652	Disgenet, GWAS catalog, Orphanet	Sphingolipid metabolism Metabolic pathways Sphingolipid de novo biosynthesis
		KRT83	Unknown	27965375	CTD, Disgenet	Keratinization Formation of the cornified envelope
		PERP	Unknown	—	Disgenet	p53 signaling pathway TP53 regulates transcription of several additional cell death genes whose specific roles in p53-dependent apoptosis remain uncertain Formation of the cornified envelope
		TRPM4	Unknown	30528822	Disgenet	Insulin secretion TRP channels
ERYTHROKERATODERMIA VARIABILIS 3	C1836330 MESH:C563739	AP1B1	Unknown	—	Disgenet	Lysosome Human immunodeficiency virus 1 infection Nef mediated downregulation of MHC class I complex cell surface expression +3 more
ERYTHROKERATODERMIA VARIABILIS 3	C1836330 MESH:C563739	AP1S1	Unknown	23423674	CTD, Disgenet	Lysosome Human immunodeficiency virus 1 infection Nef mediated downregulation of MHC class I complex cell surface expression +3 more
ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 1	133200 C4551486 MONDO:0033010	GJB3	Causal	9843209	ClinVar, Disgenet, GenCC, HPO, ClinGen	Gap junction assembly
		NIPAL4	Causal	—	Disgenet	Miscellaneous transport and binding events
		GJB4	Unknown	—	Disgenet	Gap junction assembly
ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 2	617524 C4479618 MONDO:0033012	GJB4	Causal	—	ClinVar, Disgenet, GenCC, HPO	Gap junction assembly
ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 3	617525 C4479619 MONDO:0033013	GJA1	Causal	—	ClinVar, Disgenet, GenCC, HPO	Gap junction Arrhythmogenic right ventricular cardiomyopathy Microtubule-dependent trafficking of connexons from Golgi to the plasma membrane +4 more
ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 4	617526 C4479620 MONDO:0033014	KDSR	Causal	15328338 28575652 28774589 30467204 31987885 36263748 36546314 29799648 34277909 34686882 35958175 19141869	CTD, ClinGen, ClinVar, Disgenet, HPO	Sphingolipid metabolism Metabolic pathways Sphingolipid de novo biosynthesis
ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 5	617756 C4540331 MONDO:0033015	KRT83	Unknown	—	ClinVar, Disgenet, HPO	Keratinization Formation of the cornified envelope
ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 6	618531 C5193144 MONDO:0032801	TRPM4	Causal	30528822	CTD, ClinVar, Disgenet, HPO	Insulin secretion TRP channels
ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 7	619209 C5543106 MONDO:0030941	PERP	Causal	30321533 31898316 34863005 37510397	ClinVar, Disgenet, GWAS catalog, HPO	p53 signaling pathway TP53 regulates transcription of several additional cell death genes whose specific roles in p53-dependent apoptosis remain uncertain Formation of the cornified envelope