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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 **11776 - 11800** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼	Source
DOID:216	dental caries Aliases: Dental caries extending into pulp Dental caries of smooth surface Dental caries pit and fissure	BCOR HLA-DQB1	3119 54880	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112006	immunodeficiency 69 Aliases: IMD69	IFNG	3458	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050648	atelosteogenesis	FLNB SLC26A2	1836 2317	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:3044	food allergy Aliases: food hypersensitivity	IL5 MADCAM1	3567 8174	Homo sapiens (human)	Alliance of Genome Resources
DOID:5453	pulmonary venoocclusive disease Aliases: pulmonary veno-occlusive disease	ATF4 EIF2AK2 EIF2AK3 KCNK3	3777 468 5610 9451	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060765	autosomal dominant Robinow syndrome 2 Aliases: DRS2	DVL1	1855	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110632	megaconial type congenital muscular dystrophy Aliases: congenital megaconial myopathy congenital muscular dystrophy due to phosphatidylcholine biosynthesis defect congenital muscular dystrophy with mitochondrial structural abnormalities megaconial congenital muscular dystrophy	CHKB	1120	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112216	developmental and epileptic encephalopathy 80 Aliases: DEE80 GPIBD20 early infantile epileptic encephalopathy 80 glycosylphosphatidylinositol biosynthesis defect 20	PIGB	9488	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081205	autosomal recessive intellectual developmental disorder 40	TAF2	6873	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112217	developmental and epileptic encephalopathy 81 Aliases: DEE81 early infantile epileptic encephalopathy 81	DMXL2	23312	Homo sapiens (human)	Alliance of Genome Resources
DOID:13994	cleidocranial dysplasia Aliases: Marie-Sainton Disease cleidocranial dysostosis	RUNX2	860	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110526	autosomal recessive nonsyndromic deafness 79 Aliases: DFNB79 autosomal recessive deafness 79	TPRN	286262	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110975	brachydactyly type B2 Aliases: BDB2	NOG	9241	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110777	hereditary spastic paraplegia 26 Aliases: GM2 synthase deficiency SPG26 autosomal recessive spastic paraplegia 26 autosomal recessive spastic paraplegia type 26	B4GALNT1	2583	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110912	leukocyte adhesion deficiency 3 Aliases: IADD LAD1 variant LAD1V LAD3 integrin activation deficiency disease leukocyte adhesion deficiency 1 variant leukocyte adhesion deficiency type III	RASGRP2	10235	Homo sapiens (human)	Alliance of Genome Resources
DOID:11569	neurocirculatory asthenia Aliases: Cardiovascular malfunction arising from mental factors Cardiovascular neurosis Da Costa's syndrome Krishaber's disease	SLC6A2	6530	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060447	epithelial basement membrane dystrophy Aliases: Cogan corneal dystrophy EBMD microcystic corneal dystrophy	TGFBI	7045	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111141	delayed sleep phase syndrome Aliases: DSPD	CRY1	1407	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112164	spermatogenic failure 46 Aliases: SPGF46	DNAH8	1769	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111618	autosomal recessive spinocerebellar ataxia 8 Aliases: ARCA1 Autosomal recessive cerebellar ataxia type 1 SCAR8 SYNE1-related autosomal recessive cerebellar ataxia autosomal recessive ataxia, Beauce type recessive ataxia of Beauce	SYNE1	23345	Homo sapiens (human)	Alliance of Genome Resources
DOID:4608	common bile duct neoplasm Aliases: neoplasm of common bile duct	APOB FSCN1 MSLN MTAP MUC1 MUC4 MUC5AC TYMP	10232 1890 338 4507 4582 4585 4586 6624	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080750	erythema nodosum	C3 CFB HLA-B LTA TNF	3106 4049 629 7124 718	Homo sapiens (human)	Alliance of Genome Resources
DOID:3951	acute myocarditis	CD40	958	Homo sapiens (human)	Alliance of Genome Resources
DOID:9784	trichinosis Aliases: Trichinella spiralis infection	SLC17A8	246213	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050667	alcohol-related neurodevelopmental disorder Aliases: ARND static encephalopathy	SLC13A1 SLC13A3 SLC13A5	284111 64849 6561	Homo sapiens (human)	Alliance of Genome Resources

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