Hereditary elliptocytosis | Gene-Disease Associations & Pathways | GeDiPNet

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Pathways column key: KEGG Reactome

Disease Term	Disease ID	Gene Symbol	Classification	References	Source	Pathways
ELEJALDE DISEASE	C1860157	MYO5A	Unknown	—	Disgenet	Motor proteins Pathogenic Escherichia coli infection Regulation of actin dynamics for phagocytic cup formation +1 more
ELLIPTOCYTOSIS 1	611804 C2678497 MESH:C567520 MONDO:0012731	EPB41	Causal	—	CTD, ClinVar, Disgenet, GenCC, HPO	Neurexins and neuroligins
ELLIPTOCYTOSIS 2	130600 C1851741 MESH:C565058 MONDO:0007533	SPTA1	Causal	1679439 18218854 2328319	CTD, ClinVar, Disgenet, GWAS catalog, HPO	NCAM signaling for neurite out-growth Interaction between L1 and Ankyrins RAF/MAP kinase cascade +1 more
ELLIPTOCYTOSIS 2	130600 C1851741 MESH:C565058 MONDO:0007533	OR10Z1	Unknown	—	Disgenet	Olfactory transduction Olfactory Signaling Pathway
ELLIPTOCYTOSIS 3	617948 C1866810 MONDO:0054780	SPTB	Causal	2070088 32256302 7883966 9005995	CTD, ClinVar, Disgenet, HPO	NCAM signaling for neurite out-growth Interaction between L1 and Ankyrins RAF/MAP kinase cascade +1 more
ELLIPTOCYTOSIS 4	MESH:C566231	SLC4A1	Unknown	—	CTD	Collecting duct acid secretion Erythrocytes take up carbon dioxide and release oxygen Erythrocytes take up oxygen and release carbon dioxide +2 more
ELLIPTOCYTOSIS, HEREDITARY	C0013902 MESH:D004612	EPB41	Unknown	8423235 3134067 1430200	Disgenet	Neurexins and neuroligins
		GYPC	Unknown	—	Disgenet	Malaria Cell surface interactions at the vascular wall
		SLC4A1	Unknown	1737855	CTD, Disgenet	Collecting duct acid secretion Erythrocytes take up carbon dioxide and release oxygen Erythrocytes take up oxygen and release carbon dioxide +2 more
		SPTA1	Unknown	—	Disgenet	NCAM signaling for neurite out-growth Interaction between L1 and Ankyrins RAF/MAP kinase cascade +1 more
		SPTB	Unknown	1975598	CTD, Disgenet	NCAM signaling for neurite out-growth Interaction between L1 and Ankyrins RAF/MAP kinase cascade +1 more