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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 **7101 - 7125** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▲	Organism	Source
DOID:0070098	oculocutaneous albinism type IV Aliases: OCA4	Slc45a2	22293	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0112008	pituitary adenoma 5 Aliases: PITA5 pituitary adenoma 5, multiple types	Cdh23	22295	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:5723	optic atrophy Aliases: atrophy of optic disc	FDXR MCAT MECR OPA1 SSBP1 WFS1	2232 27349 4976 51102 6742 7466	Homo sapiens (human)	Alliance of Genome Resources
DOID:2742	auditory system disease Aliases: ear and mastoid disease	FDXR MYO7A	2232 4647	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111478	combined oxidative phosphorylation deficiency 20 Aliases: COXPD20	Vars1	22321	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110446	dilated cardiomyopathy 1W Aliases: CMD1W	Vcl	22330	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110321	hypertrophic cardiomyopathy 15 Aliases: CMH15 cardiomyopathy familial hypertrophic 15	Vcl	22330	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:3512	neurofibrosarcoma Aliases: Neurosarcoma	Vegfa	22339	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:1687	neovascular glaucoma Aliases: secondary angle-closure glaucoma with rubeosis	Vegfa	22339	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111252	vestibular schwannomatosis Aliases: ACN BANF NF2 NF2-related schwannomatosis SWN3 SWNV acoustic neurofibromatosis bilateral acoustic neurinoma bilateral acoustic neurofibromatosis bilateral acoustic schwannomas central neurofibromatosis familial acoustic neuromas neurofibromatosis 2 neurofibromatosis type II schwannomatosis 3	Vegfa	22339	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060181	ischemic colitis	Vegfa	22339	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070209	hereditary lymphedema ID Aliases: LMPH1D	Vegfc	22341	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070074	autosomal dominant intellectual developmental disorder 44 Aliases: MRD44 autosomal dominant intellectual developmental disorder 44 with microcephaly autosomal dominant mental retardation 44 autosomal dominant non-syndromic intellectual disability 44	Trio	223435	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110248	cataract 30 Aliases: CTRCT30 Dusty cataract cataract 30 pulverulent cataract Coppock-like	Vim	22352	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110014	age related macular degeneration 1 Aliases: ARMD1 age related maculopathy 1	Cfhr1 Cfhr2 Hmcn1 Vldlr	22359 50702 545366 545370	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050675	Birk-Barel syndrome Aliases: Birk-Barel mental retardation dysmorphism syndrome	Kcnk9	223604	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111998	immunodeficiency 66 Aliases: IMD66	Mrtfa	223701	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111054	von Willebrand's disease 3 Aliases: VWD type 3 VWD3 von Willebrand disease type 3 von Willebrand disease type III	Vwf	22371	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:5723	optic atrophy Aliases: atrophy of optic disc	Mcat Wfs1	223722 22393	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080559	congenital disorder of glycosylation Ig Aliases: ALG12-congenital disorder of glycosylation congenital disorder of glycosylation 1g	Alg12	223774	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080262	autosomal recessive nonsyndromic deafness 107	Wbp2	22378	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111842	Keipert syndrome Aliases: KPTS nasodigitoacoustic syndrome	GPC4	2239	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110584	autosomal dominant nonsyndromic deafness 6 Aliases: DFNA14 DFNA38 DFNA6 autosomal dominant deafness 14 autosomal dominant deafness 38 autosomal dominant deafness 6	Wfs1	22393	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110241	cataract 41 Aliases: CTRCT41 congenital nuclear type cataract 41	Wfs1	22393	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080584	autosomal dominant Wolfram syndrome	Wfs1	22393	Mus musculus (house mouse)	Alliance of Genome Resources

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