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GlyCosmos Diseases

List of diseases involving glycan related genes. The information of each database of Glyco-Disease Genes Database (GDGDB) and Alliance of Genome Resources is integrated into one list.

Source	Last Updated
Alliance of Genome Resources	October 9, 2024
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **2251 - 2275** of **4649** in total

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Disease ID ▲	Disease Name	Gene Symbol	Gene ID	Organism	Source
DOID:0110915	childhood hypophosphatasia	ALPL	249	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110916	hereditary spherocytosis type 1 Aliases: HS1 SPH1 hereditary spherocytosis 1	ADD2 ANK1 EPB42 SPTA1	119 2038 286 6708	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110917	hereditary spherocytosis type 2 Aliases: HS2 SPH2 hereditary spherocytosis 2	SPTB	6710	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110918	hereditary spherocytosis type 3 Aliases: HS3 SPH3 hereditary spherocytosis 3	SPTA1	6708	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110919	hereditary spherocytosis type 4 Aliases: HS4 SPH4 hereditary spherocytosis 4	SLC4A1	6521	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110920	hereditary spherocytosis type 5 Aliases: HS5 SPH5 hereditary spherocytosis 5	EPB42	2038	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110922	familial hemophagocytic lymphohistiocytosis 2 Aliases: FHL2 HLH2 HPLH2	PRF1	5551	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110923	familial hemophagocytic lymphohistiocytosis 3 Aliases: FHL3 HLH3 HPLH3	UNC13D	201294	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110925	familial hemophagocytic lymphohistiocytosis 5 Aliases: FHL5 HLH5 HPLH5	STXBP2	6813	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110927	nemaline myopathy 3 Aliases: NEM3 congenital myopathy 2A nemaline myopathy 3, autosomal dominant or recessive	ACTA1	58	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110928	nemaline myopathy 2 Aliases: NEM2 congenital myopathy 2 nemaline myopathy 2, autosomal recessive	NEB	4703	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110933	nemaline myopathy 11 Aliases: NEM11 nemaline myopathy 11, autosomal recessive	MYPN	84665	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110934	nemaline myopathy 7 Aliases: NEM7 nemaline myopathy 7, autosomal recessive	CFL1	1072	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110937	autosomal dominant osteopetrosis 1 Aliases: OPTA1 autosomal dominant osteopetrosis type 1	LRP5	4041	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110939	autosomal recessive osteopetrosis 5 Aliases: OPTB5 infantile malignant osteopetrosis 3	OSTM1	28962	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110942	autosomal recessive osteopetrosis 1 Aliases: OPTB1 autosomal recessive Albers-Schonberg disease infantile malignant osteopetrosis 1	ATP6V0A1 ATP6V0A2 ATP6V0A4	23545 50617 535	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110943	autosomal recessive osteopetrosis 2 Aliases: OPTB2 mild autosomal recessive form osteopetrosis osteoclast-poor osteopetrosis	TNFSF11	8600	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110945	autosomal recessive osteopetrosis 6 Aliases: OPTB6 autosomal recessive osteopetrosis intermediate form	PLEKHM1	9842	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110946	autosomal recessive osteopetrosis 7 Aliases: OPTB7 autosomal recessive osteoclast-poor osteopetrosis with hypogammaglobulinemia autosomal recessive osteopetrosis type 7 osteoclast-poor osteopetrosis with hypogammaglobulinemia osteopetrosis-hypogammaglobulinemia syndrome	TNFRSF11A	8792	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110948	Waardenburg syndrome type 1 Aliases: WS1 Waardenburg syndrome type I	MITF	4286	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110950	Waardenburg syndrome type 2A Aliases: WS2A Waardenburg syndrome type IIA	MITF	4286	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110953	Waardenburg syndrome type 4A Aliases: WS4A Waardenburg syndrome type IVA Waardenburg syndrome with Hirschsprung disease type 4A	EDNRB	1910	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110957	Gaucher's disease type I Aliases: Acid Beta-Glucosidase Deficiency GD I GD1 Gaucher Disease, Noncerebral Juvenile Gba Deficiency Glucocerebrosidase Deficiency	GBA1	2629	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:0110958	Gaucher's disease type II Aliases: GD II GD2 Gaucher Disease, Acute Neuronopathic Type Infantile Cerebral Gaucher Disease	GBA1	2629	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:0110959	Gaucher's disease type III Aliases: GD III Gaucher Disease, Chronic Neuronopathic Type Gaucher Disease, Juvenile And Adult, Cerebral Gaucher Disease, Subacute Neuronopathic Type	GBA1	2629	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources

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