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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 **9376 - 9400** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▲	Organism	Source
DOID:0060206	amyotrophic lateral sclerosis type 15 Aliases: ALS15 amyotrophic lateral sclerosis 15 amyotrophic lateral sclerosis 15, with or without frontotemporal dementia	UBQLN1 UBQLN2 UBQLN4	29978 29979 56893	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060604	ankyloglossia Aliases: tongue-tie	Lgr5	299802	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0111239	congenital muscular dystrophy-dystroglycanopathy type A10 Aliases: MDDGA10 Walker-Warburg syndrome or muscle-eye-brain disease, TMEM5-related congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A10	Rxylt1	299841	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0060327	omphalocele Aliases: omphalocoele	Lrp1	299858	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0080751	keratosis pilaris atrophicans	Lrp1	299858	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:206	hereditary multiple exostoses Aliases: Multiple congenital exostosis Multiple exostosis syndromes Osteochondromatosis syndrome hereditary multiple exostoses 1 hereditary multiple exostoses 2 hereditary multiple exostoses 3 multiple ostechondromas	Ext1 Ext2 Extl1 Extl3	299907 311215 313610 56819	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0112079	nuclear type mitochondrial complex I deficiency 24 Aliases: MC1DN24	Ndufb9	299954	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0112370	Coffin-Siris syndrome 12 Aliases: CSS12	BICRA	29998	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050534	congenital stationary night blindness Aliases: congenital essential nyctalopia	CACNA1F GUCY2D NYX TRPM1	3000 4308 60506 778	Homo sapiens (human)	Alliance of Genome Resources
DOID:980	choroidal sclerosis Aliases: Choroidal degenerations	GUCY2D PRPH2	3000 5961	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111011	cone-rod dystrophy 6 Aliases: CORD6 RCD2 retinal cone dystrophy 2	GUCY2D	3000	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110078	Leber congenital amaurosis 1 Aliases: LCA1 amaurosis congenita of Leber I	GUCY2D	3000	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050605	acrodermatitis enteropathica	Slc39a4	300051	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0050645	arterial tortuosity syndrome	EFEMP2 SLC2A10	30008 81031	Homo sapiens (human)	Alliance of Genome Resources
DOID:3376	bone osteosarcoma Aliases: Osteosarcoma of bone primary Osteosarcoma of bone	EFEMP2	30008	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070133	autosomal recessive cutis laxa type IB Aliases: ARCL1B	EFEMP2	30008	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111999	immunodeficiency 61 Aliases: IMD61	SH3KBP1	30011	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080470	developmental and epileptic encephalopathy 36 Aliases: congenital disorder of glycosylation, type Is early infantile epileptic encephalopathy 36	Alg13l1	300284	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:3345	xanthomatosis Aliases: xanthelasmatosis	Ldlr	300438	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:10230	aortic atherosclerosis Aliases: Atherosclerosis of aorta	Ldlr	300438	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0111156	spermatogenic failure 9 Aliases: globozoospermia male infertility due to round-headed spermatozoa	Dpy19l2	300461	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0111028	hemochromatosis type 4 Aliases: HFE4 autosomal dominant hereditary hemochromatosis ferroportin disease hemochromatosis due to defect in ferroportin	SLC40A1	30061	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110676	congenital myasthenic syndrome 13 Aliases: CMS13 CMSTA2 congenital myasthenic syndrome 13 with tubular aggregates congenital myasthenic syndrome with tubular aggregates 2	Dpagt1	300668	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0080562	congenital disorder of glycosylation Ij Aliases: Congenital disorder of glycosylation 1j	Dpagt1	300668	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0111973	immunodeficiency 17 Aliases: CD3-gamma deficiency IMD17 SCID-like immunodeficiency, T cell-partial, B cell-positive, NK cell-positive immunodeficiency 17, CD3 gamma deficient	Cd3g	300678	Rattus norvegicus (Norway rat)	Alliance of Genome Resources

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