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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	Source
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)	Glyco-Disease Genes Database DisGeNET Alliance of Genome Resources
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	Alliance of Genome Resources
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)	Glyco-Disease Genes Database DisGeNET Alliance of Genome Resources
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	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 DisGeNET Alliance of Genome Resources
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)	Glyco-Disease Genes Database DisGeNET Alliance of Genome Resources
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	Alliance of Genome Resources
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)	DisGeNET Alliance of Genome Resources
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)	Alliance of Genome Resources
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)	DisGeNET Alliance of Genome Resources
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)	DisGeNET Alliance of Genome Resources
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)	DisGeNET Alliance of Genome Resources
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)	DisGeNET Alliance of Genome Resources
DOID:0070285	primary autosomal recessive microcephaly 1 Aliases: MCPH1	SDHB SDHD	6390 6392	Homo sapiens (human)	DisGeNET
DOID:0070295	primary autosomal dominant microcephaly 18 Aliases: MCPH18	Wdfy3	72145	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070298	multiple epiphyseal dysplasia 2 Aliases: EDM2	COL9A2	1298	Homo sapiens (human)	DisGeNET 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 DisGeNET Alliance of Genome Resources
DOID:0070303	multiple epiphyseal dysplasia 1 Aliases: EDM1 MED1 multiple epiphyseal dysplasia COMP-related polyepiphyseal dysplasia type 1	Tsp	33941	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0070309	absence epilepsy	ALPI ALPP CACNA2D2 CANX PDIA3 PIGO PLCB4	248 250 2923 5332 821 84720 9254	Homo sapiens (human)	DisGeNET
DOID:0070311	oligoasthenoteratozoospermia Aliases: OAT oligoasthenoteratospermia	Spata20	217116	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070311	oligoasthenoteratozoospermia Aliases: OAT oligoasthenoteratospermia	B0495.5	174243	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0070311	oligoasthenoteratozoospermia Aliases: OAT oligoasthenoteratospermia	SPATA20	64847	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070311	oligoasthenoteratozoospermia Aliases: OAT oligoasthenoteratospermia	Spata20	360604	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0070313	thiamine deficiency disease	AGXT CHAT SLC35F3 TKT	1103 148641 189 7086	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET
DOID:0070314	obstructive nephropathy Aliases: CON congenital obstructive nephropathy	PIK3CA PIK3CB PIK3CD PIK3CG VNN1	5290 5291 5293 5294 8876	Homo sapiens (human)	DisGeNET

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