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GlyCosmos Diseases

List of diseases involving glycan related genes. The information of each database of Glyco-Disease Genes Database (GDGDB), DisGeNET, and Alliance of Genome Resources is integrated into one list.

Source	Last Updated
Alliance of Genome Resources	July 29, 2024
DisGeNET	July 29, 2024
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **1201 - 1225** of **7942** in total

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Disease ID ▲	Disease Name	Gene Symbol	Gene ID	Organism
DOID:0070261	congenital disorder of glycosylation type IIi Aliases: CDG IIi CDG syndrome type IIi CDG2I CDGIIdi COG5-CDG Carbohydrate deficient glycoprotein syndrome type IIi Congenital disorder of glycosylation type 2i	COG5	10466	Homo sapiens (human)
DOID:0070261	congenital disorder of glycosylation type IIi Aliases: CDG IIi CDG syndrome type IIi CDG2I CDGIIdi COG5-CDG Carbohydrate deficient glycoprotein syndrome type IIi Congenital disorder of glycosylation type 2i	COG5	855676	Saccharomyces cerevisiae S288C
DOID:0070262	congenital disorder of glycosylation type IIj Aliases: CDG IIj CDG syndrome type IIj CDG2J CDGIIdj COG4-CDG Carbohydrate deficient glycoprotein syndrome type IIj Congenital disorder of glycosylation type 2j	COG4	856220	Saccharomyces cerevisiae S288C
DOID:0070262	congenital disorder of glycosylation type IIj Aliases: CDG IIj CDG syndrome type IIj CDG2J CDGIIdj COG4-CDG Carbohydrate deficient glycoprotein syndrome type IIj Congenital disorder of glycosylation type 2j	COG4	25839	Homo sapiens (human)
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)
DOID:0070264	congenital disorder of glycosylation type IIl Aliases: CDG IIl CDG syndrome type IIL CDG2L CDGIIdl COG6-CGD Congenital disorder of glycosylation type 2l	COG6	57511	Homo sapiens (human)
DOID:0070264	congenital disorder of glycosylation type IIl Aliases: CDG IIl CDG syndrome type IIL CDG2L CDGIIdl COG6-CGD Congenital disorder of glycosylation type 2l	COG6	855687	Saccharomyces cerevisiae S288C
DOID:0070265	congenital disorder of glycosylation type IIm Aliases: SLC35A2-CDG congenital disorder of glycosylation type 2m developmental and epileptic encephalopathy 22 epileptic encephalopathy, early infantile, 22	Ugalt	31255	Drosophila melanogaster (fruit fly)
DOID:0070265	congenital disorder of glycosylation type IIm Aliases: SLC35A2-CDG congenital disorder of glycosylation type 2m developmental and epileptic encephalopathy 22 epileptic encephalopathy, early infantile, 22	SLC35A2	7355	Homo sapiens (human)
DOID:0070266	congenital disorder of glycosylation type IIn Aliases: CDG IIn CDG syndrome type IIn CDG2N CDGIIdn Carbohydrate deficient glycoprotein syndrome type IIn Congenital disorder of glycosylation type 2n SLC39A8-CDG	SLC39A8	64116	Homo sapiens (human)
DOID:0070267	congenital disorder of glycosylation type IIo Aliases: CCDC115-CDG CDG IIo CDG syndrome type IIo CDG2O CDGIIdo Carbohydrate deficient glycoprotein syndrome type IIo Congenital disorder of glycosylation type 2o	CCDC115	84317	Homo sapiens (human)
DOID:0070268	congenital disorder of glycosylation type IIp Aliases: CDG IIp CDG syndrome type IIp CDG2P CDGIIdp Carbohydrate deficient glycoprotein syndrome type IIp Congenital disorder of glycosylation type 2p TMEM199-CDG	TMEM199	147007	Homo sapiens (human)
DOID:0070269	congenital disorder of glycosylation type IIq Aliases: CDG IIq CDG2Q CDGIIdq COG2-CDG COG2-related congenital disorder of glycosylation	COG2	22796	Homo sapiens (human)
DOID:0070285	primary autosomal recessive microcephaly 1 Aliases: MCPH1	SDHB SDHD	6390 6392	Homo sapiens (human)
DOID:0070295	primary autosomal dominant microcephaly 18 Aliases: MCPH18	Wdfy3	72145	Mus musculus (house mouse)
DOID:0070298	multiple epiphyseal dysplasia 2 Aliases: EDM2	COL9A2	1298	Homo sapiens (human)
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)
DOID:0070303	multiple epiphyseal dysplasia 1 Aliases: EDM1 MED1 multiple epiphyseal dysplasia COMP-related polyepiphyseal dysplasia type 1	Tsp	33941	Drosophila melanogaster (fruit fly)
DOID:0070309	absence epilepsy	ALPI ALPP CACNA2D2 CANX PDIA3 PIGO PLCB4	248 250 2923 5332 821 84720 9254	Homo sapiens (human)
DOID:0070311	oligoasthenoteratozoospermia Aliases: OAT oligoasthenoteratospermia	Spata20	217116	Mus musculus (house mouse)
DOID:0070311	oligoasthenoteratozoospermia Aliases: OAT oligoasthenoteratospermia	Spata20	360604	Rattus norvegicus (Norway rat)
DOID:0070311	oligoasthenoteratozoospermia Aliases: OAT oligoasthenoteratospermia	B0495.5	174243	Caenorhabditis elegans
DOID:0070311	oligoasthenoteratozoospermia Aliases: OAT oligoasthenoteratospermia	SPATA20	64847	Homo sapiens (human)
DOID:0070313	thiamine deficiency disease	AGXT CHAT SLC35F3 TKT	1103 148641 189 7086	Homo sapiens (human)
DOID:0070314	obstructive nephropathy Aliases: CON congenital obstructive nephropathy	PIK3CA PIK3CB PIK3CD PIK3CG VNN1	5290 5291 5293 5294 8876	Homo sapiens (human)

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