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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 **901 - 925** of **4649** in total

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Disease ID ▲	Disease Name	Gene Symbol	Gene ID	Organism	Source
DOID:0070299	multiple epiphyseal dysplasia 5 Aliases: BHMED EDM5 bilateral hereditary microepiphyseal dysplasia multiple epiphyseal dysplasia MATN3-related	MATN3	4148	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070300	multiple epiphyseal dysplasia 4 Aliases: EDM4 MED4 Polyepiphyseal dysplasia type 4 multiple epiphyseal dysplasia with bilateral patellae multiple epiphyseal dysplasia with clubfoot rMED	SLC26A2	1836	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:0070301	multiple epiphyseal dysplasia 6 Aliases: EDM6	COL9A1	1297	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070302	multiple epiphyseal dysplasia 7 Aliases: EDM7	CANT1	124583	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070303	multiple epiphyseal dysplasia 1 Aliases: EDM1 MED1 multiple epiphyseal dysplasia COMP-related polyepiphyseal dysplasia type 1	COMP	1311	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070304	multiple epiphyseal dysplasia 3 Aliases: EDM3 multiple epiphyseal dysplasia 3 with or without myopathy	COL9A3	1299	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070307	craniolenticulosutural dysplasia Aliases: Boyadjiev-Jabs Syndrome cranio-lenticulo-sutural dysplasia, CLSD	SEC23A SEC23B	10483 10484	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070309	absence epilepsy	CACNA1A	773	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070311	oligoasthenoteratozoospermia Aliases: OAT oligoasthenoteratospermia	AGFG1 CFAP58 CFAP61 PPP4C SPATA20	159686 26074 3267 5531 64847	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070314	obstructive nephropathy Aliases: CON congenital obstructive nephropathy	MOCOS	55034	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070316	Miura type epiphyseal chondrodysplasia Aliases: ECDM tall stature-scoliosis-macrodactyly of the great toes syndrome tall stature-scoliosis-macrodactyly of the halluces syndrome	NPR2	4882	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070329	mitochondrial DNA depletion syndrome Aliases: mtDNA depletion syndrome	SLC25A10	1468	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070330	multiple mitochondrial dysfunctions syndrome Aliases: fatal multiple mitochondrial dysfunction syndrome	GCSH	2653	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070332	multiple mitochondrial dysfunctions syndrome 6	PMPCB UQCRC1	7384 9512	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070336	arthrogryposis multiplex congenita-6	NEB	4703	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070337	epithelial recurrent erosion dystrophy Aliases: COL17A1 ERED	COL17A1	1308	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070338	cerebellar hypoplasia	NAV1 NAV2 NAV3	89795 89796 89797	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070339	cerebellar hyplasia/atrophy, epilepsy, and global developmental delay	OXR1	55074	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070340	classic citrullinemia	ASS1	445	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070341	neonatal-onset type II citrullinemia Aliases: neonatal-onset type 2 citrullinemia	SLC25A12 SLC25A13	10165 8604	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070342	adult-onset type II citrullinemia Aliases: citrin deficiency	SLC25A13	10165	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070343	CSF1R-related brain malformation and osteopetrosis Aliases: osteoporosis and infantile neuroaxonal dystrophy	CSF1R	1436	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070344	ocular tuberculosis	IL10	3586	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070345	vertebral anomalies and variable endocrine and T-cell dysfunction Aliases: heterozygotes for TBX2 variants	TBX2	6909	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070346	neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies	INTS1	26173	Homo sapiens (human)	Alliance of Genome Resources

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