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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	January 28, 2025
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **401 - 425** of **5716** in total

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Disease ID ▲	Disease Name	Gene Symbol	Gene ID	Organism	Source
DOID:0050968	autosomal dominant cerebellar ataxia, deafness and narcolepsy	DNMT1	1786	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050974	spinocerebellar ataxia type 25	PNPT1	87178	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050975	spinocerebellar ataxia type 26	EEF2	1938	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050977	spinocerebellar ataxia type 28	Afg3l2	69597	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050978	spinocerebellar ataxia type 29	ITPR1	3708	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050981	spinocerebellar ataxia type 34	ELOVL4	6785	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050983	spinocerebellar ataxia type 36	NOP56	10528	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050984	spinocerebellar ataxia type 37	DAB1	1600	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050985	spinocerebellar ataxia type 38	ELOVL5	60481	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050986	spinocerebellar ataxia type 40	CCDC88C	440193	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050989	episodic ataxia type 1	Kcna1	16485	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050989	episodic ataxia type 1	Kcna1	24520	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0050989	episodic ataxia type 1	KCNA1	3736	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050989	episodic ataxia type 1	Sh	32780	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0050990	episodic ataxia type 2	Cacna1a	12286	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050990	episodic ataxia type 2	CACNA1A	773	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050994	episodic ataxia type 6	SLC1A3	6507	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050998	nonprogressive cerebellar ataxia with mental retardation	CAMTA1	23261	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060000	infective endocarditis	TLR6	10333	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060001	withdrawal disorder	Creb1 Gria1 Htr2a Oprk1 Ptger3	24929 29335 29595 50592 81646	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0060001	withdrawal disorder	COMT GAD1 HTR1A HTR2A KDM4C NGF NR3C1 OPRD1 OPRM1	1312 23081 2571 2908 3350 3356 4803 4985 4988	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060009	MHC class I deficiency Aliases: BLS, TYPE I BLSI HLA CLASS I DEFICIENCY bare lymphocyte syndrome type I	TAP1	6890	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060010	Omenn syndrome Aliases: combined immunodeficiency with hypereosinophilia	DCLRE1C	64421	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060013	X-linked severe combined immunodeficiency Aliases: SCID-X1 XSCID gamma chain deficiency thymic epithelial hypoplasia	IL2RG	3561	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060019	coronin-1A deficiency	CORO1A	11151	Homo sapiens (human)	Alliance of Genome Resources

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