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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 **3576 - 3600** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▼	Organism	Source
DOID:0081158	dilated cardiomyopathy 1MM	MYBPC3	4607	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110310	hypertrophic cardiomyopathy 4 Aliases: CMH4 cardiomyopathy, familial hypertrophic, 4	MYBPC3	4607	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111598	distal arthrogryposis type 1B Aliases: DA1B	MYBPC1	4604	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060654	lethal congenital contracture syndrome 4	MYBPC1	4604	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081348	congenital myopathy 16	MYBPC1	4604	Homo sapiens (human)	Alliance of Genome Resources
DOID:3512	neurofibrosarcoma Aliases: Neurosarcoma	MXI1 VEGFA	4601 7422	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050452	mevalonic aciduria Aliases: Mevalonate Kinase Deficiency	MVK TNF	4598 7124	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080410	familial adenomatous polyposis 2 Aliases: MUTYH-associated polyposis MUTYH-related attenuated FAP MUTYH-related attenuated familial adenomatous polyposis MUTYH-related attenuated familial polyposis coli	MUTYH	4595	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060740	methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency Aliases: methylmalonic acidemia due to methylmalonyl-CoA mutase deficiency methylmalonic aciduria mut type vitamin B12-unresponsive methylmalonic aciduria	MMUT	4594	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111377	fetal akinesia deformation sequence syndrome 1 Aliases: FADS1	MUSK	4593	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110670	congenital myasthenic syndrome 9 Aliases: CMS9 congenital myasthenic syndrome 9, associated with acetylcholine receptor deficiency	MUSK	4593	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050436	mulibrey nanism Aliases: MUL Mulibrey growth disorder Muscle-Liver-Brain-Eye Nanism PERICARDIAL CONSTRICTION AND GROWTH FAILURE Perheentupa Syndrome	TRIM37	4591	Homo sapiens (human)	Alliance of Genome Resources
DOID:9368	keratoconjunctivitis	MUC16 MUC5AC TLR2	4586 7097 94025	Homo sapiens (human)	Alliance of Genome Resources
DOID:5295	intestinal disease	BAX BMPR1A MUC2 NOD2 SLC10A2 SOD2	4583 581 64127 6555 657 6648	Homo sapiens (human)	Alliance of Genome Resources
DOID:13891	bird fancier's lung Aliases: Avian hypersensitivity Pneumonitis Bird-fancier's lung Bird-fanciers' lung bird breeder's lung bird fancier lung pigeon breeder's lung poultry worker's lung	MUC1	4582	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060062	familial juvenile hyperuricemic nephropathy	MUC1 REN UMOD	4582 5972 7369	Homo sapiens (human)	Alliance of Genome Resources
DOID:8622	measles Aliases: morbilli	B2M MUC1	4582 567	Homo sapiens (human)	Alliance of Genome Resources
DOID:3030	mucinous adenocarcinoma Aliases: Mucin-Secreting adenocarcinoma Mucin-Secreting carcinoma Mucous carcinoma Pseudomyxoma peritonei with unknown primary site mucin-producing adenocarcinoma	MUC1 MUC2 MUC4 MUC5AC MUC6 ZFHX3	4582 4583 4585 4586 4588 463	Homo sapiens (human)	Alliance of Genome Resources
DOID:3755	antithrombin III deficiency Aliases: AT III deficiency hereditary thrombophilia due to congenital antithrombin deficiency	Spn27A Spn42Dd Spn88Ea	45815 49804 49808	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0050831	familial encephalopathy with neuroserpin inclusion bodies Aliases: FENIB	Spn27A Spn42Dd Spn88Ea	45815 49804 49808	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:11247	disseminated intravascular coagulation Aliases: DIC Defibrination syndrome Diffuse or disseminated intravascular coagulation	Spn27A Spn42Dd Spn88Ea	45815 49804 49808	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0050733	methylmalonic aciduria and homocystinuria type cblG	MTR	4548	Homo sapiens (human)	Alliance of Genome Resources
DOID:3687	MELAS syndrome Aliases: MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES	ND5	4540	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111643	autosomal recessive nonsyndromic deafness 115 Aliases: DFNB115 autosomal recessive deafness 115	spin	45380	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:1927	sphingolipidosis Aliases: sphingolipidoses	spin	45380	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources

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