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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 **8826 - 8850** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▼	Organism	Source
DOID:0110347	osteogenesis imperfecta type 15 Aliases: OI15 osteogenesis imperfecta type XV	Wnt1	22408	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070367	leukoencephalopathy with vanishing white matter 5 Aliases: Cree leukoencephalopathy	Eif2b5	224045	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111699	Van den Ende-Gupta syndrome Aliases: Marden-Walker-like syndrome Marden-Walker-like syndrome without psychmotor retardation VDEGS blepharophimosis, arachnodactyly, and congenital contractures	Scarf2	224024	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0112347	hereditary spastic paraplegia 84 Aliases: SPG84 spastic paraplegia 84 autosomal recessive	Pi4ka	224020	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080584	autosomal dominant Wolfram syndrome	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: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:0111441	optic atrophy 1 Aliases: OPA1	Wfs1	22393	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110629	Wolfram syndrome 1 Aliases: DIDMOAD WFS1 diabetes mellitus AND insipidus with optic atrophy AND deafness	Wfs1	22393	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:10632	Wolfram syndrome Aliases: WFS	Wfs1	22393	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:0080262	autosomal recessive nonsyndromic deafness 107	Wbp2	22378	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:5723	optic atrophy Aliases: atrophy of optic disc	Mcat Wfs1	223722 22393	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:0111998	immunodeficiency 66 Aliases: IMD66	Mrtfa	223701	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: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:0110248	cataract 30 Aliases: CTRCT30 Dusty cataract cataract 30 pulverulent cataract Coppock-like	Vim	22352	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:0070209	hereditary lymphedema ID Aliases: LMPH1D	Vegfc	22341	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:3512	neurofibrosarcoma Aliases: Neurosarcoma	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:1687	neovascular glaucoma Aliases: secondary angle-closure glaucoma with rubeosis	Vegfa	22339	Mus musculus (house mouse)	Alliance of Genome Resources

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