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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	January 28, 2025
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **76 - 100** of **4115** in total

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Disease ID	Disease Name	Gene Symbol ▼	Gene ID	Organism	Source
DOID:0060796	hypomyelinating leukodystrophy 12 Aliases: HLD12	VPS11	55823	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060939	dystonia 32 Aliases: DYT32	VPS11	55823	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070267	congenital disorder of glycosylation type IIo Aliases: CCDC115-CDG CDG IIo CDG syndrome type IIo CDG2O CDGIIo Carbohydrate deficient glycoprotein syndrome type IIo Congenital disorder of glycosylation type 2o	VMA22	84317	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070268	congenital disorder of glycosylation type IIp Aliases: CDG IIp CDG syndrome type IIp CDG2P CDGIIp Carbohydrate deficient glycoprotein syndrome type IIp Congenital disorder of glycosylation type 2p TMEM199-CDG	VMA12	147007	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070556	cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 1 Aliases: CAMRQ syndrome 1 CAMRQ1 DES-VLDLR VLDLR cerebellar hypoplasia VLDLR-CH VLDLR-associated cerebellar hypoplasia cerebellar ataxia and mental retardation with or without quadrupedal locomotion 1 cerebellar ataxia, mental retardation, and disequilibrium syndrome 1 cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1 cerebellar hypoplasia, VLDLR-associated dysequilibrium syndrome-VLDLR	VLDLR	7436	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:0110248	cataract 30 Aliases: CTRCT30 Dusty cataract cataract 30 pulverulent cataract Coppock-like	VIM	7431	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070209	hereditary lymphedema ID Aliases: LMPH1D	VEGFC	7424	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: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: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: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:0050752	amyotrophic lateral sclerosis type 8 Aliases: ALS8 amyotrophic lateral sclerosis 8	VAPB	9217	Homo sapiens (human)	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	VAPB	9217	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070187	Y-linked spermatogenic failure 2 Aliases: SPGFY2 nonobstructive Y-linked spermatogenic failure	USP9Y	8287	Homo sapiens (human)	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	8239	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112026	non-syndromic X-linked intellectual disability 99 Aliases: MRX99 X-linked mental retardation 99	USP9X	8239	Homo sapiens (human)	Alliance of Genome Resources
DOID:7004	ACTH-secreting pituitary adenoma Aliases: ACTH-Producing Pituitary Adenoma Corticotroph adenoma Corticotropinoma	USP8	9101	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070605	autosomal dominant nonsyndromic deafness 85 Aliases: DFNA85 autosomal dominant deafness 85	USP48	84196	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070597	X-linked spermatogenic failure 6 Aliases: SPGFX6	USP26	83844	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110360	retinitis pigmentosa 39 Aliases: RP39	USH2A	7399	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050563	nonsyndromic deafness Aliases: nonsyndromic hearing loss nonsyndromic hereditary hearing loss	USH2A	7399	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110827	Usher syndrome type 2 Aliases: USH2	USH2A	7399	Homo sapiens (human)	Alliance of Genome Resources
DOID:13271	cutaneous porphyria Aliases: Erythropoietic porphyria	UROS	7390	Homo sapiens (human)	Alliance of Genome Resources

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