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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 **12401 - 12425** of **15957** in total

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Disease ID	Disease Name	Gene Symbol ▲	Gene ID	Organism	Source
DOID:0081169	Leber congenital amaurosis 19	Usp45	77593	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0112026	non-syndromic X-linked intellectual disability 99 Aliases: MRX99 X-linked mental retardation 99	Usp9x	22284	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0112025	female-restricted syndromic X-linked intellectual disability 99 Aliases: MRXS99F X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability female-restricted syndromic X-linked mental retardation 99	Usp9x	22284	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:365	bladder disease Aliases: Urinary Bladder Disease	VAChT mAChR-A	37892 42795	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0110672	congenital myasthenic syndrome 21 Aliases: CMS21 congenital myasthenic syndrome 21, presynaptic	VAChT	42795	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0111194	autosomal dominant adult-onset proximal spinal muscular atrophy Aliases: Finkel disease Finkel late-adult type SMA SMAFK autosomal dominant adult proximal spinal muscular atrophy autosomal dominant adult-onset proximal SMA autosomal dominant late-onset spinal muscular atrophy, Finkel type	VAPA VAPB	9217 9218	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050752	amyotrophic lateral sclerosis type 8 Aliases: ALS8 amyotrophic lateral sclerosis 8	VAPA VAPB	9217 9218	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111478	combined oxidative phosphorylation deficiency 20 Aliases: COXPD20	VARS1	7407	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110321	hypertrophic cardiomyopathy 15 Aliases: CMH15 cardiomyopathy familial hypertrophic 15	VCL	7414	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110446	dilated cardiomyopathy 1W Aliases: CMD1W	VCL	7414	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060205	frontotemporal dementia and/or amyotrophic lateral sclerosis 6 Aliases: ALS14 amyotrophic lateral sclerosis 14 amyotrophic lateral sclerosis type 14 amyotrophic lateral sclerosis, with or without frontotemporal dementia	VCP	7415	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111385	inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 1 Aliases: IBMPFD1 MSP1 multisystem proteinopathy 1	VCP	7415	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110168	Charcot-Marie-Tooth disease type 2Y Aliases: CMT2 due to VCP mutation CMT2Y Charcot-Marie-Tooth neuropathy type 2Y autosomal dominant Charcot-Marie-Tooth disease type 2 due to VCP mutation autosomal dominant axonal Charcot-Marie-Tooth type 2Y	VCP	7415	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070209	hereditary lymphedema ID Aliases: LMPH1D	VEGFC	7424	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110248	cataract 30 Aliases: CTRCT30 Dusty cataract cataract 30 pulverulent cataract Coppock-like	VIM	7431	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050763	ARC syndrome Aliases: ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS Arthrogryposis, renal dysfunction and cholestasis (ARC) syndrome Arthrogryposis-renal dysfunction-cholestasis	VIPAS39 VPS33B	26276 63894	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111354	arthrogryposis, renal dysfunction, and cholestasis 2 Aliases: ARCS2	VIPAS39	63894	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060558	lethal congenital contracture syndrome	VPS1	853870	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:4492	avian influenza Aliases: avian flu bird flu	VPS1	853870	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:14717	centronuclear myopathy Aliases: myotubular myopathy	VPS1	853870	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:11166	Human papillomavirus infectious disease Aliases: HPV	VPS1	853870	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:854	collagen disease Aliases: collagen disorder	VPS1	853870	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:1827	idiopathic generalized epilepsy Aliases: Generalised epilepsy	VPS1	853870	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:2975	cystic kidney disease Aliases: renal Cyst	VPS1	853870	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0080437	developmental and epileptic encephalopathy 31A Aliases: DEE31 DEE31A developmental and epileptic encephalopathy 31 early infantile epileptic encephalopathy 31	VPS1	853870	Saccharomyces cerevisiae S288C	Alliance of Genome Resources

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