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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 **1 - 25** of **7942** in total

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Disease ID	Disease Name ▲	Gene Symbol	Gene ID	Organism
DOID:0112248	17-beta hydroxysteroid dehydrogenase 3 deficiency Aliases: 17-KSR deficiency 17-beta-hydroxysteroid dehydrogenase 3 deficiency 17-ketoreductase deficiency 17-ketosteroidreductase deficiency 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency male pseudohermaphroditism with gynecomastia neutral 17-beta-hydroxysteroid oxidoreductase deficiency	HSD17B3	3293	Homo sapiens (human)
DOID:0111453	2-aminoadipic 2-oxoadipic aciduria Aliases: AMOXAD alpha-aminoadipic aciduria	Dhtkd1	209692	Mus musculus (house mouse)
DOID:0111453	2-aminoadipic 2-oxoadipic aciduria Aliases: AMOXAD alpha-aminoadipic aciduria	Dhtkd1	361272	Rattus norvegicus (Norway rat)
DOID:0111453	2-aminoadipic 2-oxoadipic aciduria Aliases: AMOXAD alpha-aminoadipic aciduria	DHTKD1	55526	Homo sapiens (human)
DOID:0111453	2-aminoadipic 2-oxoadipic aciduria Aliases: AMOXAD alpha-aminoadipic aciduria	dhtkd1	494076	Danio rerio (zebrafish)
DOID:0111453	2-aminoadipic 2-oxoadipic aciduria Aliases: AMOXAD alpha-aminoadipic aciduria	dhtkd1.L	403360	Xenopus laevis (African clawed frog)
DOID:0111453	2-aminoadipic 2-oxoadipic aciduria Aliases: AMOXAD alpha-aminoadipic aciduria	ogdh-2	179674	Caenorhabditis elegans
DOID:0111453	2-aminoadipic 2-oxoadipic aciduria Aliases: AMOXAD alpha-aminoadipic aciduria	CG1544	43689	Drosophila melanogaster (fruit fly)
DOID:0050573	2-hydroxyglutaric aciduria	L2HGDH	35156	Drosophila melanogaster (fruit fly)
DOID:0050573	2-hydroxyglutaric aciduria	IDH1 IDH2 L2HGDH SLC25A1	3417 3418 6576 79944	Homo sapiens (human)
DOID:0110004	3-methylglutaconic aciduria type 3 Aliases: 3-methylglutaconic aciduria type III Costeff optic atrophy syndrome Costeff syndrome Iraqi-Jewish optic atrophy plus MGA3 autosomal recessive optic atrophy plus syndrome autosomal recessive optic atrophy type 3 infantile optic atrophy with chorea and spastic paraplegia	ATRN	8455	Homo sapiens (human)
DOID:0110006	3-methylglutaconic aciduria type 4 Aliases: 3-methylglutaconic aciduria type IV MGA type IV MGA4 MGCA4	SUCLA2	8803	Homo sapiens (human)
DOID:0081133	3-methylglutaconic aciduria type 7a	HSP104	850633	Saccharomyces cerevisiae S288C
DOID:0081134	3-methylglutaconic aciduria type 7b	HSP104	850633	Saccharomyces cerevisiae S288C
DOID:0060336	3-methylglutaconic aciduria	ACADSB AGK DHCR7 ECHS1	1717 1892 36 55750	Homo sapiens (human)
DOID:0060575	3MC syndrome 1	COLEC11 MASP1	5648 78989	Homo sapiens (human)
DOID:0060576	3MC syndrome 2	COLEC11 MASP1	5648 78989	Homo sapiens (human)
DOID:0060577	3MC syndrome 3	COLEC10 COLEC11 MASP1	10584 5648 78989	Homo sapiens (human)
DOID:0060225	3MC syndrome Aliases: craniofacial-ulnar-renal syndrome oculopalatoskeletal syndrome	COLEC10 COLEC11 MASP1	10584 5648 78989	Homo sapiens (human)
DOID:0060417	3p deletion syndrome Aliases: chromosome 3pter-P25 deletion syndrome distal monosomy 3p	CYP11A1 FREM1 PAFAH1B1 PRNP	1583 158326 5048 5621	Homo sapiens (human)
DOID:0111773	46,XY sex reversal 8 Aliases: SRXY8 TDD male pseudohermaphroditism due to deficiency of testicular 17,20-desmolase	GCY1 YPR1	851974 854287	Saccharomyces cerevisiae S288C
DOID:0111773	46,XY sex reversal 8 Aliases: SRXY8 TDD male pseudohermaphroditism due to deficiency of testicular 17,20-desmolase	AKR1C2 AKR1C4	1109 1646	Homo sapiens (human)
DOID:14448	46,XY sex reversal Aliases: 46 XY gonadal dysgenesis Pure gonadal dysgenesis 46,XY Swyer syndrome	AKR1B1 AKR1C2 AKR1C4 CAT CYP11A1 CYP11B1 CYP11B2 GPX2 HPSE LPIN1 PGD PLCB4 PLCE1 PTGS2	10855 1109 1583 1584 1585 1646 231 23175 2877 51196 5226 5332 5743 847	Homo sapiens (human)
DOID:7004	ACTH-secreting pituitary adenoma Aliases: ACTH-Producing Pituitary Adenoma Corticotroph adenoma Corticotropinoma	CD14 CNTN3 CYP11B1 GAPDH HSD11B1 HSD11B2 SMUG1	1584 23583 2597 3290 3291 5067 929	Homo sapiens (human)
DOID:0080952	AMED syndrome Aliases: AMEDS	ADH5	128	Homo sapiens (human)

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