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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	January 28, 2025
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **4101 - 4115** of **4115** in total

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Disease ID	Disease Name ▼	Gene Symbol	Gene ID	Organism	Source
DOID:0111777	46,XY sex reversal 2 Aliases: 46,XY sex reversal, DAX1-related 46XY sex reversal 2, dosage-sensitive SRXY2 dosage-sensitive sex reversal	NR0B1	190	Homo sapiens (human)	Alliance of Genome Resources
DOID:14448	46,XY complete gonadal dysgenesis Aliases: 46 XY gonadal dysgenesis 46,XY sex reversal Pure gonadal dysgenesis 46,XY Swyer syndrome	DHX37	57647	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080943	46,XX sex reversal 5	NR2F2	7026	Homo sapiens (human)	Alliance of Genome Resources
DOID:14450	46 XX gonadal dysgenesis Aliases: ovarian dysgenesis	FSHR	2492	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060577	3MC syndrome 3	COLEC10	10584	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060576	3MC syndrome 2	COLEC11	78989	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060575	3MC syndrome 1	MASP1	5648	Homo sapiens (human)	Alliance of Genome Resources
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	OPA3	80207	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080579	3-methylcrotonyl-CoA carboxylase 1 deficiency	MCCC1	56922	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060949	3-hydroxyisobutryl-CoA hydrolase deficiency Aliases: HIBCH deficiency Methacrylic aciduria Valine metabolic defect	HIBCH	26275	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070541	3-hydroxy-3-methylglutaryl-CoA lyase deficiency Aliases: 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency HMG-CoA lyase deficiency HMGCL deficiency HMGCLD hydroxymethylglutaric aciduria	HMGCL	3155	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060241	3-M syndrome Aliases: Le Merrer syndrome Miller-McKusick-Malvaux syndrome Yakut short stature syndrome dolichospondylic dysplasia gloomy face syndrome three M syndrome	CUL7 OBSL1	23363 9820	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050573	2-hydroxyglutaric aciduria	L2HGDH	79944	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111453	2-aminoadipic 2-oxoadipic aciduria Aliases: AMOXAD alpha-aminoadipic aciduria	DHTKD1	55526	Homo sapiens (human)	Alliance of Genome Resources
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)	Alliance of Genome Resources

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