Disease Details | GeDiPNet - Gene Disease Associations & Pathways

Disease Term	Disease ID	Gene Symbol	Classification	References	Source
Infantile Sialic Acid Storage Disease	C1096902	SLC17A5	Causal Pathogenic evidence from ClinVar	10546100, 10581036, 10947946, 15805149, 27604308	ClinVar
Infantile Sialic Acid Storage Disease	C1096902	GNE	Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations	-	-
Sialic Acid Storage Disease, Finnish Type (disorder)	C1096903	SLC17A5	Causal Pathogenic evidence from ClinVar	10581036, 10947946, 11992753, 12359136, 12592494, 12637289, 12709150, 12794687, 12794688, 15172001, 15510212, 15516337, 15805149, 16170568, 16715535, 18695252, 19557856, 20101035, 21781115, 23900835, 24767253, 24993898, 25085675, 25525159, 27604308, 27848944, 28662915	ClinVar
Sialic Acid Storage Disease, Finnish Type (disorder)	C1096903	GNE	Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations	-	-

Sialic acid storage disease