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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 **4576 - 4600** of **4649** in total

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Disease ID	Disease Name	Gene Symbol ▲	Gene ID	Organism	Source
DOID:0111354	arthrogryposis, renal dysfunction, and cholestasis 2 Aliases: ARCS2	VIPAS39	63894	Homo sapiens (human)	Alliance of Genome Resources
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:0111590	Cohen syndrome Aliases: COH1 Hypotonia, obesity, and prominent incisors Pepper syndrome	VPS13A VPS13B VPS13C	157680 23230 54832	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111611	autosomal recessive spinocerebellar ataxia 4 Aliases: SCA24 SCAR4 SCASI autosomal recessive cerebellar ataxia-saccadic intrusion syndrome spinocerebellar ataxia 24 spinocerebellar ataxia with saccadic intrusions	VPS13A VPS13C VPS13D	23230 54832 55187	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050766	choreaacanthocytosis Aliases: Levine-Critchley syndrome choreo-acanthocytosis	VPS13A VPS13C	23230 54832	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060896	Parkinson's disease 23 Aliases: autosomal recessive early-onset Parkinson disease 23 autosomal recessive early-onset Parkinson's disease 23	VPS13A VPS13C	23230 54832	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060937	dystonia 30 Aliases: DYT30	VPS16	64601	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111353	arthrogryposis, renal dysfunction, and cholestasis 1 Aliases: ARCS1	VPS33B	26276	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060565	Ritscher-Schinzel syndrome Aliases: CCC dysplasia craniocerebellocardiac dysplasia	VPS35L	57020	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110805	hereditary spastic paraplegia 53 Aliases: SPG53 autosomal recessive spastic paraplegia 53 autosomal recessive spastic paraplegia type 53	VPS37A	137492	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112332	pontocerebellar hypoplasia type 13 Aliases: PCH13	VPS51	738	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081426	autosomal recessive distal hereditary motor neuronopathy 7	VWA1	64856	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111614	autosomal recessive spinocerebellar ataxia 22 Aliases: SCAR22	VWA3B	200403	Homo sapiens (human)	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	7450	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081126	DeSanto-Shinawi syndrome Aliases: Chromosome 10p12-p11 deletion syndrome Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome	WAC	51322	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111212	autosomal dominant distal hereditary motor neuronopathy 9 Aliases: DHMN9 HMN9 distal hereditary motor neuronopathy type 9 distal hereditary motor neuropathy type IX	WARS1	7453	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060571	Ritscher-Schinzel syndrome 1	WASHC5	9897	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110823	hereditary spastic paraplegia 8 Aliases: SPG8 autosomal dominant spastic paraplegia 8 autosomal dominant spastic paraplegia type 8	WASHC5	9897	Homo sapiens (human)	Alliance of Genome Resources
DOID:9169	Wiskott-Aldrich syndrome Aliases: Wiskott syndrome	WASL	8976	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070295	primary autosomal dominant microcephaly 18 Aliases: MCPH18	WDFY3	23001	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080804	cranioectodermal dysplasia 2	WDR35	57539	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110090	short-rib thoracic dysplasia 7 with or without polydactyly Aliases: SRPS5 SRTD7 short rib-polydactyly syndrome type V	WDR35	57539	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111675	neurooculocardiogenitourinary syndrome Aliases: NOCGUS	WDR37	22884	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110739	neurodegeneration with brain iron accumulation 5 Aliases: BPAN Beta-Propeller Protein-Associated Neurodegeneration NBIA5 SENDA Static Encephalopathy Of Childhood With Neurodegeneration In Adulthood	WDR45	11152	Homo sapiens (human)	Alliance of Genome Resources

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