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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 **15251 - 15275** of **15957** in total

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Disease ID	Disease Name ▼	Gene Symbol	Gene ID	Organism	Source
DOID:0050699	Dent disease Aliases: Dent disease 1 Dent disease 2 Dent's disease	Clcn3 Clcn5	12725 12728	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050699	Dent disease Aliases: Dent disease 1 Dent disease 2 Dent's disease	CLCN3 CLCN5	1182 1184	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081126	DeSanto-Shinawi syndrome Aliases: Chromosome 10p12-p11 deletion syndrome Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome	WAC	51322	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081126	DeSanto-Shinawi syndrome Aliases: Chromosome 10p12-p11 deletion syndrome Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome	Wac	225131	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0112158	De Sanctis-Cacchione syndrome Aliases: xeroderma pigmentosum with neurologic manifestation	ERCC6	2074	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050437	Danon disease Aliases: ANTOPOL DISEASE PSEUDOGLYCOGENOSIS II	Lamp2	16784	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050437	Danon disease Aliases: ANTOPOL DISEASE PSEUDOGLYCOGENOSIS II	lmp-1	180912	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0050437	Danon disease Aliases: ANTOPOL DISEASE PSEUDOGLYCOGENOSIS II	Lamp2	24944	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0050437	Danon disease Aliases: ANTOPOL DISEASE PSEUDOGLYCOGENOSIS II	LAMP2	3920	Homo sapiens (human)	Alliance of Genome Resources
DOID:2785	Dandy-Walker syndrome Aliases: Atresia of foramina of Magendie and Luschka	ZIC4 ZNF423	23090 84107	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081063	DICER1 syndrome Aliases: PPB familial tumor susceptibility syndrome Pleuro-pulmonary blastoma familial tumor susceptibility Pleuro-pulmonary blastoma familial tumor susceptibility syndrome Pleuropulmonary blastoma familial tumor susceptibility syndrome	DICER1	23405	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111626	D-glyceric aciduria Aliases: D-glycerate kinase deficiency D-glyceric acidemia D-glycericacidemia deficiency of glycerate kinase non ketotic hyperglycinemia syndrome	Glyctk	235582	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111626	D-glyceric aciduria Aliases: D-glycerate kinase deficiency D-glyceric acidemia D-glycericacidemia deficiency of glycerate kinase non ketotic hyperglycinemia syndrome	GLYCTK	132158	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111626	D-glyceric aciduria Aliases: D-glycerate kinase deficiency D-glyceric acidemia D-glycericacidemia deficiency of glycerate kinase non ketotic hyperglycinemia syndrome	Glyctk	684314	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0090031	D-bifunctional protein deficiency	HSD17B4	3295	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090031	D-bifunctional protein deficiency	Hsd17b4	15488	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050575	D-2-hydroxyglutaric aciduria	IDP1 IDP2 IDP3	850871 851493 855723	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0050575	D-2-hydroxyglutaric aciduria	Idh1	24479	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0050575	D-2-hydroxyglutaric aciduria	Idh1	15926	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050575	D-2-hydroxyglutaric aciduria	IDH1	3417	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111352	D-2-hydroxyglutaric aciduria 2 Aliases: D2HGA2	Idh2	361596	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0111352	D-2-hydroxyglutaric aciduria 2 Aliases: D2HGA2	Idh2	269951	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111352	D-2-hydroxyglutaric aciduria 2 Aliases: D2HGA2	IDH2	3418	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111352	D-2-hydroxyglutaric aciduria 2 Aliases: D2HGA2	IDP2 IDP3	850871 855723	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0111351	D-2-hydroxyglutaric aciduria 1 Aliases: D2HGA1	D2HGDH	728294	Homo sapiens (human)	Alliance of Genome Resources

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