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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 **12351 - 12375** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▲	Organism	Source
DOID:0110868	congenital stationary night blindness 1D Aliases: CSNB1D congenital stationary night blindness 1D autosomal recessive	Nckx30C	45248	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0080845	omodysplasia 2	fz	45307	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0090032	Silverman-Handmaker type dyssegmental dysplasia	trol	45320	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0090005	Schwartz-Jampel syndrome 1 Aliases: Aberfeld syndrome Burton skeletal dysplasia Burton syndrome Catel-Hempel syndrome Catel-Hempel type dysostosis enchondralis metaepiphysaria Schwartz-Jampel syndrome type 1 Schwartz-Jampel-Aberfeld syndrome myotonic chondrodystrophy myotonic myopathy, dwarfism, chondrodystrophy, ocular and facial anomalies osteochondromuscular dystrophy	trol	45320	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0060770	dextro-looped transposition of the great arteries Aliases: D-TGA DTGA1 congenitally uncorrected transposition of the great arteries congenitally uncorrected transposition of the great vessels isolated ventriculoarterial discordance ventriculoarterial discordance with atrioventricular concordance	trol	45320	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0111225	centronuclear myopathy X-linked Aliases: CNMX MTM1 X-linked myotubular myopathy XLCNM XLMTM myotubular myopathy 1	MTM1 MTMR1 MTMR2 MTMR3 MTMR4 MTMR6 MTMR7 MTMR8	4534 55613 8776 8897 8898 9107 9108 9110	Homo sapiens (human)	Alliance of Genome Resources
DOID:422	congenital structural myopathy	ACTB MTM1	4534 60	Homo sapiens (human)	Alliance of Genome Resources
DOID:1927	sphingolipidosis Aliases: sphingolipidoses	spin	45380	Drosophila melanogaster (fruit fly)	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:3687	MELAS syndrome Aliases: MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES	ND5	4540	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050733	methylmalonic aciduria and homocystinuria type cblG	MTR	4548	Homo sapiens (human)	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:0050831	familial encephalopathy with neuroserpin inclusion bodies Aliases: FENIB	Spn27A Spn42Dd Spn88Ea	45815 49804 49808	Drosophila melanogaster (fruit fly)	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: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:8622	measles Aliases: morbilli	B2M MUC1	4582 567	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: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:5295	intestinal disease	BAX BMPR1A MUC2 NOD2 SLC10A2 SOD2	4583 581 64127 6555 657 6648	Homo sapiens (human)	Alliance of Genome Resources
DOID:9368	keratoconjunctivitis	MUC16 MUC5AC TLR2	4586 7097 94025	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: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: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: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

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