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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 **3126 - 3150** of **7942** in total

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Disease ID ▲	Disease Name	Gene Symbol	Gene ID	Organism
DOID:0111865	MEND syndrome Aliases: male EBP disorder with neurological defects	EBP	10682	Homo sapiens (human)
DOID:0111898	CK syndrome Aliases: X-linked intellectual disability-microcephaly-cortical malformation-thin habitus syndrome	NSDHL	50814	Homo sapiens (human)
DOID:0111910	spermatogenic failure Aliases: SPGF	Pdha2	117098	Rattus norvegicus (Norway rat)
DOID:0111910	spermatogenic failure Aliases: SPGF	PDHA2	5161	Homo sapiens (human)
DOID:0111910	spermatogenic failure Aliases: SPGF	Pdha2	18598	Mus musculus (house mouse)
DOID:0111933	phosphoglycerate kinase 1 deficiency Aliases: GSD due to phosphoglycerate kinase 1 deficiency PGK1 deficiency glycogen storage disease due to phosphoglycerate kinase 1 deficiency glycogenosis due to phosphoglycerate kinase 1 deficiency	PGK1	850370	Saccharomyces cerevisiae S288C
DOID:0111933	phosphoglycerate kinase 1 deficiency Aliases: GSD due to phosphoglycerate kinase 1 deficiency PGK1 deficiency glycogen storage disease due to phosphoglycerate kinase 1 deficiency glycogenosis due to phosphoglycerate kinase 1 deficiency	Pgk	33461	Drosophila melanogaster (fruit fly)
DOID:0111933	phosphoglycerate kinase 1 deficiency Aliases: GSD due to phosphoglycerate kinase 1 deficiency PGK1 deficiency glycogen storage disease due to phosphoglycerate kinase 1 deficiency glycogenosis due to phosphoglycerate kinase 1 deficiency	PGK1	5230	Homo sapiens (human)
DOID:0111933	phosphoglycerate kinase 1 deficiency Aliases: GSD due to phosphoglycerate kinase 1 deficiency PGK1 deficiency glycogen storage disease due to phosphoglycerate kinase 1 deficiency glycogenosis due to phosphoglycerate kinase 1 deficiency	Pgk1	24644	Rattus norvegicus (Norway rat)
DOID:0111933	phosphoglycerate kinase 1 deficiency Aliases: GSD due to phosphoglycerate kinase 1 deficiency PGK1 deficiency glycogen storage disease due to phosphoglycerate kinase 1 deficiency glycogenosis due to phosphoglycerate kinase 1 deficiency	pgk-1	171965	Caenorhabditis elegans
DOID:0111933	phosphoglycerate kinase 1 deficiency Aliases: GSD due to phosphoglycerate kinase 1 deficiency PGK1 deficiency glycogen storage disease due to phosphoglycerate kinase 1 deficiency glycogenosis due to phosphoglycerate kinase 1 deficiency	Pgk1	18655	Mus musculus (house mouse)
DOID:0111936	immunodeficiency 14 Aliases: APDS IMD14 PASLI disease activated PI3K-delta syndrome senescent T-cells-lymphadenopathy-immunodeficiency syndrome due to p110delta-activating mutation	PIK3CD	5293	Homo sapiens (human)
DOID:0111949	immunodeficiency 36 Aliases: IMD36 activated phosphoinositide 3-kinase delta syndrome 2	Pik3r1	18708	Mus musculus (house mouse)
DOID:0111949	immunodeficiency 36 Aliases: IMD36 activated phosphoinositide 3-kinase delta syndrome 2	Pik3r1	25513	Rattus norvegicus (Norway rat)
DOID:0111953	immunodeficiency 23 Aliases: CID due to PGM3 deficiency IMD23 PGM3-CDG PGM3-related congenital disorder of glycosylation combined immunodeficiency due to PGM3 deficiency	PGM3	5238	Homo sapiens (human)
DOID:0111953	immunodeficiency 23 Aliases: CID due to PGM3 deficiency IMD23 PGM3-CDG PGM3-related congenital disorder of glycosylation combined immunodeficiency due to PGM3 deficiency	PCM1	856652	Saccharomyces cerevisiae S288C
DOID:0111953	immunodeficiency 23 Aliases: CID due to PGM3 deficiency IMD23 PGM3-CDG PGM3-related congenital disorder of glycosylation combined immunodeficiency due to PGM3 deficiency	Pgm3	109785	Mus musculus (house mouse)
DOID:0112002	immunodeficiency 47 Aliases: CDG IIs CDG2S CDGIIs IMD47 congenital disorder of glycosylation type IIs immunodeficiency and hepatopathy with or without neurologic features	ATP6AP1	537	Homo sapiens (human)
DOID:0112022	non-syndromic X-linked intellectual disability 21 Aliases: MRX21 MRX34 X-linked mental retardation 21 X-linked mental retardation 21/34 X-linked mental retardation 34	il1rapl1a il1rapl1b	557801 568868	Danio rerio (zebrafish)
DOID:0112022	non-syndromic X-linked intellectual disability 21 Aliases: MRX21 MRX34 X-linked mental retardation 21 X-linked mental retardation 21/34 X-linked mental retardation 34	IL1RAPL1	11141	Homo sapiens (human)
DOID:0112022	non-syndromic X-linked intellectual disability 21 Aliases: MRX21 MRX34 X-linked mental retardation 21 X-linked mental retardation 21/34 X-linked mental retardation 34	Il1rapl1	317553	Rattus norvegicus (Norway rat)
DOID:0112050	non-syndromic X-linked intellectual disability 63 Aliases: ACSL4-related intellectual disability MRX63 MRX68 X-linked mental retardation 63 X-linked mental retardation 68	ACSL3 ACSL4	2181 2182	Homo sapiens (human)
DOID:0112072	nuclear type mitochondrial complex I deficiency 20 Aliases: ACAD9 deficiency Acyl-CoA dehydrogenase 9 deficiency MC1DN20 mitochondrial complex 1 deficiency due to ACAD9 deficiency	ACADL	33	Homo sapiens (human)
DOID:0112105	X-linked parkinsonism-spasticity syndrome Aliases: X-linked Parkinsonism with spasticity XPDS	ATP6AP2	41104	Drosophila melanogaster (fruit fly)
DOID:0112105	X-linked parkinsonism-spasticity syndrome Aliases: X-linked Parkinsonism with spasticity XPDS	ATP6AP2	10159	Homo sapiens (human)

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