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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 **7026 - 7050** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲	Source
DOID:1827	idiopathic generalized epilepsy Aliases: Generalised epilepsy	DNM1 GABRA1 HCN4 KCNMA1	10021 1759 2554 3778	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111139	mitochondrial complex III deficiency	UQCRFS1	7386	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110809	hereditary spastic paraplegia 57 Aliases: SPG57 autosomal recessive spastic paraplegia 57 autosomal recessive spastic paraplegia type 57	TFG	10342	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050200	Korean hemorrhagic fever	IL2RA	3559	Homo sapiens (human)	Alliance of Genome Resources
DOID:2277	gonadal disease	LHCGR	3973	Homo sapiens (human)	Alliance of Genome Resources
DOID:5160	arteriosclerosis obliterans	THPO	7066	Homo sapiens (human)	Alliance of Genome Resources
DOID:5050	Ehrlich tumor carcinoma Aliases: Ehrlich tumour carcinoma Ehrlich's tumor Ehrlich's tumour	CD40 CD40LG	958 959	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110677	congenital myasthenic syndrome 4B Aliases: CMS4B congenital myasthenic syndrome 4B fast-channel	CHRNE	1145	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110798	hereditary spastic paraplegia 46 Aliases: SPG46 autosomal recessive spastic paraplegia 46 autosomal recessive spastic paraplegia type 46	GBA2	57704	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060746	basal laminar drusen Aliases: cuticular drusen drusen of bruch membrane early adult-onset grouped drusen	CFH	3075	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111254	glutaric acidemia I Aliases: GA1 glutaric academia type 1 glutaric aciduria 1 glutaric aciduria type I glutaryl-coA dehydrogenase deficiency glutaryl-coenzyme A dehydrogenase deficiency	GCDH	2639	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050736	autosomal dominant disease	FGFR3	2261	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060916	proteasome-associated autoinflammatory syndrome 3 Aliases: PRAAS3	PSMB4	5692	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111364	Alzheimer's disease 9 Aliases: AD9 Alzheimer's disease 9, late onset	ABCA7	10347	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110275	autosomal recessive limb-girdle muscular dystrophy type 2A Aliases: LGMD2A Leyden-Moebius muscular dystrophy limb-girdle muscular dystrophy due to calpain deficiency muscular dystrophy, limb-girdle, type 2A pelvofemoral muscular dystrophy primary calpainopathy	CAPN3	825	Homo sapiens (human)	Alliance of Genome Resources
DOID:4972	myelodysplastic/myeloproliferative neoplasm Aliases: Myeloproliferative/Myelodysplastic syndromes myelodysplastic myeloproliferative cancer	DIDO1	11083	Homo sapiens (human)	Alliance of Genome Resources
DOID:2565	macular corneal dystrophy Aliases: Fehr corneal dystrophy MACULAR DYSTROPHY, CORNEAL, 1	CHST6	4166	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:3078	anaplastic astrocytoma Aliases: grade III Astrocytic tumor grade III astrocytoma	KRAS POLE	3845 5426	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080599	Coronavirus infectious disease	ACE CCR1 CCR2 CCR5 CD209 EGFR MBL2 MUC4 MYD88 SERPINE1 SFTPD	1230 1234 1636 1956 30835 4153 4585 4615 5054 6441 729230	Homo sapiens (human)	Alliance of Genome Resources
DOID:7596	asbestos-related lung carcinoma	ADAM28 RARB	10863 5915	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070274	hereditary nonpolyposis colorectal cancer type 2 Aliases: COCA2 FCC2 HNPCC2 familial nonpolyposis colon cancer type 2	MLH1	4292	Homo sapiens (human)	Alliance of Genome Resources
DOID:3590	gestational trophoblastic neoplasm Aliases: gestational trophoblastic neoplasia hydatidiform mole molar pregnancy	MEI1	150365	Homo sapiens (human)	Alliance of Genome Resources
DOID:2786	cerebellar disease	ZNF423	23090	Homo sapiens (human)	Alliance of Genome Resources
DOID:3840	craniopharyngioma Aliases: neoplasm of Rathke's Pouch	PDGFRA	5156	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050704	childhood electroclinical syndrome	CACNA1A	773	Homo sapiens (human)	Alliance of Genome Resources

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