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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	July 29, 2024
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **3051 - 3075** of **7942** in total

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Disease ID ▲	Disease Name	Gene Symbol	Gene ID	Organism
DOID:0111442	optic atrophy 9 Aliases: OPA9	ACO1	851013	Saccharomyces cerevisiae S288C
DOID:0111442	optic atrophy 9 Aliases: OPA9	ACO2	50	Homo sapiens (human)
DOID:0111444	progressive myoclonus epilepsy 4 Aliases: AMRF EPM4 Myoclonus-nephropathy syndrome action myoclonus-renal failure syndrome	CERS1 EPM2A GBA1 NEU1 PRNP	10715 2629 4758 5621 7957	Homo sapiens (human)
DOID:0111451	progressive myoclonus epilepsy 8 Aliases: EMP8 PME type 8 progressive myoclonic epilepsy due to CERS1 deficiency progressive myoclonus epilepsy type 8	CERS1	10715	Homo sapiens (human)
DOID:0111452	progressive myoclonus epilepsy 1A Aliases: EPM1A	ARSA ASAH1 EPM2A NEU1 PFKL PRNP TMED9	410 427 4758 5211 54732 5621 7957	Homo sapiens (human)
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	DHTKD1	55526	Homo sapiens (human)
DOID:0111453	2-aminoadipic 2-oxoadipic aciduria Aliases: AMOXAD alpha-aminoadipic aciduria	CG1544	43689	Drosophila melanogaster (fruit fly)
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	494076	Danio rerio (zebrafish)
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	ogdh-2	179674	Caenorhabditis elegans
DOID:0111454	SHORT syndrome Aliases: Aarskog-Ose-Pande syndrome Lipodystrophy-Rieger anomaly-diabetes syndrome Rieger anomaly-partial lipodystrophy syndrome short stature, hyperextensibility, hernia, ocular depression, Rieger anomaly, and teething delay	Pik3r1	18708	Mus musculus (house mouse)
DOID:0111454	SHORT syndrome Aliases: Aarskog-Ose-Pande syndrome Lipodystrophy-Rieger anomaly-diabetes syndrome Rieger anomaly-partial lipodystrophy syndrome short stature, hyperextensibility, hernia, ocular depression, Rieger anomaly, and teething delay	Pik3r1	25513	Rattus norvegicus (Norway rat)
DOID:0111454	SHORT syndrome Aliases: Aarskog-Ose-Pande syndrome Lipodystrophy-Rieger anomaly-diabetes syndrome Rieger anomaly-partial lipodystrophy syndrome short stature, hyperextensibility, hernia, ocular depression, Rieger anomaly, and teething delay	PIK3CA PIK3CB PIK3CD PIK3CG	5290 5291 5293 5294	Homo sapiens (human)
DOID:0111458	galactose epimerase deficiency Aliases: GALE deficiency GALE-D UDP-galactose-4-epimerase deficiency epimerase deficiency galactosemia galactosemia III galactosemia type 3 uridine diphosphate galactose-4-epimerase deficiency	GALE GALK1 GALT	2582 2584 2592	Homo sapiens (human)
DOID:0111458	galactose epimerase deficiency Aliases: GALE deficiency GALE-D UDP-galactose-4-epimerase deficiency epimerase deficiency galactosemia galactosemia III galactosemia type 3 uridine diphosphate galactose-4-epimerase deficiency	Gale	74246	Mus musculus (house mouse)
DOID:0111458	galactose epimerase deficiency Aliases: GALE deficiency GALE-D UDP-galactose-4-epimerase deficiency epimerase deficiency galactosemia galactosemia III galactosemia type 3 uridine diphosphate galactose-4-epimerase deficiency	Gale	38076	Drosophila melanogaster (fruit fly)
DOID:0111458	galactose epimerase deficiency Aliases: GALE deficiency GALE-D UDP-galactose-4-epimerase deficiency epimerase deficiency galactosemia galactosemia III galactosemia type 3 uridine diphosphate galactose-4-epimerase deficiency	GAL10	852307	Saccharomyces cerevisiae S288C
DOID:0111458	galactose epimerase deficiency Aliases: GALE deficiency GALE-D UDP-galactose-4-epimerase deficiency epimerase deficiency galactosemia galactosemia III galactosemia type 3 uridine diphosphate galactose-4-epimerase deficiency	gale-1	173171	Caenorhabditis elegans
DOID:0111459	classic galactosemia Aliases: GALT deficiency galactose-1-phosphate uridyltransferase deficiency galactosemia type 1	Galt	298003	Rattus norvegicus (Norway rat)
DOID:0111459	classic galactosemia Aliases: GALT deficiency galactose-1-phosphate uridyltransferase deficiency galactosemia type 1	GAL7	852306	Saccharomyces cerevisiae S288C
DOID:0111459	classic galactosemia Aliases: GALT deficiency galactose-1-phosphate uridyltransferase deficiency galactosemia type 1	CYP51A1 G6PD GALE GALK1 GALM GALT GP2 LGALS1 UGP2 UGT8	130589 1595 2539 2582 2584 2592 2813 3956 7360 7368	Homo sapiens (human)
DOID:0111459	classic galactosemia Aliases: GALT deficiency galactose-1-phosphate uridyltransferase deficiency galactosemia type 1	ZK1058.3	175506	Caenorhabditis elegans
DOID:0111459	classic galactosemia Aliases: GALT deficiency galactose-1-phosphate uridyltransferase deficiency galactosemia type 1	Galt	14430	Mus musculus (house mouse)

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