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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 **1651 - 1675** of **5716** in total

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Disease ID ▲	Disease Name	Gene Symbol	Gene ID	Organism	Source
DOID:0080505	Cornelia de Lange syndrome 1	NIPBL	25836	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080506	Cornelia de Lange syndrome 2	SMC1A	8243	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080507	Cornelia de Lange syndrome 3 Aliases: CDLS3 Cornelia De Lange syndrome 3 with or without midline brain defects	SMC3	9126	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080507	Cornelia de Lange syndrome 3 Aliases: CDLS3 Cornelia De Lange syndrome 3 with or without midline brain defects	SMC3	32627	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0080512	Meier-Gorlin syndrome 1	ORC1	4998	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080517	Meier-Gorlin syndrome 6	GMNN	51053	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080519	PAPA syndrome Aliases: pyogenic arthritis, pyoderma gangrenosum and acne	PSTPIP1	9051	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080520	Tn polyagglutination syndrome Aliases: galactosyltransferase deficiency	C1GALT1C1	29071	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:0080523	adult-onset leukoencephalopathy with axonal spheroids and pigmented glia Aliases: hereditary diffuse leukoencephalopathy with spheroids	CSF1R	1436	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080526	bronchiectasis 1	CFTR SCNN1B	1080 6338	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080527	bronchiectasis 2	SCNN1A	6337	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080528	bronchiectasis 3	SCNN1G	6340	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080530	granular corneal dystrophy 1 Aliases: corneal dystrophy, Groenouw type I	TGFBI	7045	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080533	Carney-Stratakis syndrome	SDHB SDHC SDHD	6390 6391 6392	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080537	hypermanganesemia with dystonia 2	SLC39A14	23516	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080538	Sweeney-Cox syndrome	TWIST1	7291	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080540	galactosialidosis	CTSA	5476	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:0080545	hyper IgE syndrome Aliases: hyper immunoglobulin E syndrome	IL6R	3570	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080547	metabolic dysfunction-associated steatohepatitis Aliases: MASH NASH non-alcoholic steatohepatitis nonalcoholic steatohepatitis	APOA1 HTR2B IL10 IL6 LEPR SERPINF1 SOD2	335 3357 3569 3586 3953 5176 6648	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080547	metabolic dysfunction-associated steatohepatitis Aliases: MASH NASH non-alcoholic steatohepatitis nonalcoholic steatohepatitis	Krt18 Mc4r	16668 17202	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080548	Noonan syndrome with multiple lentigines 1 Aliases: LEOPARD syndrome 1	PTPN11	5781	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080549	Noonan syndrome with multiple lentigines 2 Aliases: LEOPARD syndrome 2	RAF1	5894	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080551	Naxos disease	JUP	3728	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080552	congenital disorder of glycosylation Ia Aliases: PMM2-congenital disorder of glycosylation congenital disorder of glycosylation 1a	SEC53	850499	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0080552	congenital disorder of glycosylation Ia Aliases: PMM2-congenital disorder of glycosylation congenital disorder of glycosylation 1a	PMM2	5373	Homo sapiens (human)	Glyco-Disease Genes Database Glyco-Disease Genes Database Glyco-Disease Genes Database Glyco-Disease Genes Database Alliance of Genome Resources

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