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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 **13051 - 13075** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▲	Organism	Source
DOID:0080694	Galloway-Mowat syndrome	NUP107 NUP133 YRDC	55746 57122 79693	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060364	Galloway-Mowat syndrome 1 Aliases: Galloway syndrome SCAR5 autosomal recessive spinocerebellar ataxia 5 microcephaly, hiatal hernia and nephrotic syndrome nephrosis-microcephaly syndrome nephrosis-neuronal dysmigration syndrome	NUP133	55746	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080393	nephrotic syndrome type 18	NUP133	55746	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080132	Sengers syndrome Aliases: mitochondrial DNA depletion syndrome 10 mitochondrial DNA depletion syndrome 10 (cardiomyopathic type)	AGK	55750	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110245	cataract 38 Aliases: CATC5 CTRCT38 autosomal recessive congenital cataract 5	AGK	55750	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070286	primary autosomal recessive microcephaly 3 Aliases: MCPH3	CDK5RAP2	55755	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112155	inflammatory bowel disease 29 Aliases: IBD29	INAVA	55765	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060728	NGLY1-deficiency Aliases: NGLY1-CDDG congenital disorder of deglycosylation congenital disorder of glycosylation type Iv deficiency of N-glycanase 1	NGLY1	55768	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090115	spinocerebellar ataxia with axonal neuropathy 1 Aliases: SCAN1 autosomal recessive spinocerebellar ataxia with axonal neuropathy 1 spinocerebellar ataxia with axonal neuropathy type 1	TDP1	55775	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070031	autosomal dominant intellectual developmental disorder 1 Aliases: MRD1 autosomal dominant mental retardation 1 autosomal dominant non-syndromic intellectual disability 1	MBD5	55777	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070166	spermatogenic failure 20 Aliases: SPGF20	CFAP44	55779	Homo sapiens (human)	Alliance of Genome Resources
DOID:3774	chordoid glioma Aliases: Chordoid glioma of 3rd Ventricle Chordoid glioma of third ventricle third ventricle chordoid glioma	PRKCA	5578	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112022	non-syndromic X-linked intellectual disability 21 Aliases: MRX21 MRX34 X-linked mental retardation 21 X-linked mental retardation 21/34 X-linked mental retardation 34	il1rapl1a il1rapl1b	557801 568868	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:0050717	methylmalonic aciduria and homocystinuria type cblF Aliases: Cobalamin F deficiency MAHCF	LMBRD1	55788	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060917	facioscapulohumeral muscular dystrophy 3 Aliases: FSHD3 facioscapulohumeral muscular dystrophy type 3	LRIF1	55791	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110224	Brugada syndrome 7 Aliases: BRGDA7	SCN3B	55800	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111637	autosomal recessive nonsyndromic deafness 112 Aliases: DFNB112 autosomal recessive deafness 112	BDP1	55814	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:0070263	congenital disorder of glycosylation type IIk Aliases: CDG IIk CDG syndrome type IIk CDG2K CDGIIdk Carbohydrate deficient glycoprotein syndrome type IIk Congenital disorder of glycosylation type 2k TMEM165-CDG	TMEM165	55858	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:0110777	hereditary spastic paraplegia 26 Aliases: GM2 synthase deficiency SPG26 autosomal recessive spastic paraplegia 26 autosomal recessive spastic paraplegia type 26	b4galnt1a b4galnt1b	558684 793635	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:0080231	autosomal dominant intellectual developmental disorder 52 Aliases: autosomal dominant mental retardation 52	ASH1L	55870	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080975	intracranial berry aneurysm 12	THSD1	55901	Homo sapiens (human)	Alliance of Genome Resources
DOID:4079	heart valve disease Aliases: Valvular heart disease	ace galnt1	559073 565980	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:13580	cholestasis Aliases: Obstruction of bile duct bile occlusion	ace cftr	559080 565980	Danio rerio (zebrafish)	Alliance of Genome Resources

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