GlyCosmos Portal

Table Filtering

Disease ID

Disease Name

Gene Symbol

Gene ID

Organism

Source

Display
results per page.

Clear

Submissions

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 **9326 - 9350** of **15957** in total

« First

‹ Prev

…

370

371

372

373

374

375

376

377

378

…

Next ›

Last »
Disease ID	Disease Name	Gene Symbol	Gene ID ▲	Organism	Source
DOID:0112210	developmental and epileptic encephalopathy 74 Aliases: DEE74 early infantile epileptic encephalopathy 74	Gabrg2	29709	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0081118	benign familial infantile seizures 5 Aliases: Benign Familial Infantile Seizures, 5	Scn8a	29710	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0080445	developmental and epileptic encephalopathy 13 Aliases: DEE13 early infantile epileptic encephalopathy 13	Scn8a	29710	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0070073	autosomal dominant intellectual developmental disorder 43 Aliases: MRD43 autosomal dominant mental retardation 43 autosomal dominant non-syndromic intellectual disability 43	Hivep2	29721	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0060770	dextro-looped transposition of the great arteries Aliases: D-TGA DTGA1 congenitally uncorrected transposition of the great arteries congenitally uncorrected transposition of the great vessels isolated ventriculoarterial discordance ventriculoarterial discordance with atrioventricular concordance	Slc19a1	29723	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0050659	biotin-responsive basal ganglia disease	Slc19a1	29723	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:14365	systemic primary carnitine deficiency disease Aliases: carnitine transporter deficiency carnitine uptake defect deficiency of plasma-membrane carnitine transporter primary carnitine deficiency renal carnitine transport defect	Slc22a5	29726	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0090080	hypogonadotropic hypogonadism 16 with or without anosmia	Sema3a	29751	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0110942	autosomal recessive osteopetrosis 1 Aliases: OPTB1 autosomal recessive Albers-Schonberg disease infantile malignant osteopetrosis 1	Atp6v0a1	29757	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0070390	developmental and epileptic encephalopathy 104 Aliases: DEE104 early infantile epileptic encephalopathy 104	Atp6v0a1	29757	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0060308	autosomal recessive intellectual developmental disorder Aliases: autosomal recessive mental retardation autosomal recessive non-syndromic mental retardation	Cntnap1 Cntnap5a Cntnap5b Cntnap5bl1 Cntnap5c	297832 297846 301650 304725 84008	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0111459	classic galactosemia Aliases: GALT deficiency galactose-1-phosphate uridyltransferase deficiency galactosemia type 1	Galt	298003	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0080097	myofibrillar myopathy 6	Bag3	29810	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110448	dilated cardiomyopathy 1HH Aliases: CMD1HH	Bag3	29810	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:5052	melioidosis Aliases: Nightcliff gardener's disease Pseudoglanders Whitmore's disease acute and fulminating melioidosis subacute and chronic melioidosis	Ifna5 Plaur	298210 50692	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:12287	Crimean-Congo hemorrhagic fever Aliases: CHF Congo virus Congo-Crimean Hemorrhagic Fever Crimean hemorrhagic fever	Ifna5	298210	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:1390	hypobetalipoproteinemia Aliases: Hypo-beta-lipoproteinemia	Apob Pcsk9	298296 54225	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0060780	congenital diarrhea 6 Aliases: chronic diarrhea due to guanylate cyclase 2C overactivity chronic diarrhoea due to guanylate cyclase 2C overactivity congenital diarrhoea 6	GUCY2C	2984	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081144	common variable immunodeficiency 1	ICOS	29851	Homo sapiens (human)	Alliance of Genome Resources
DOID:890	mitochondrial encephalomyopathy	Sdhb Tymp	298596 315219	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0080533	Carney-Stratakis syndrome	Sdhb	298596	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0081426	autosomal recessive distal hereditary motor neuronopathy 7	Vwa1	298683	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0050802	Ehlers-Danlos syndrome spondylodysplastic type 2 Aliases: EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 2 Ehlers-Danlos syndrome progeroid type	B3galt6	298690	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0112198	spondyloepimetaphyseal dysplasia with joint laxity type 1 Aliases: SEMDJL1 spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures	B3galt6	298690	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0070113	Niemann-Pick disease type C1 Aliases: NPC1	NPC1 NPC1L1	29881 4864	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources

Download data in CSV format Download data in TSV format Download data in JSON format

Table Filtering

GlyTouCan

GlyComb

GlycoPOST

UniCarb-DR

LM-GlycoRepo

All Resources

Other Information

Tools

Search Tools

International Collaboration

Acknowledgements