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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	October 9, 2024
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **9726 - 9750** of **15957** in total

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Disease ID	Disease Name	Gene Symbol ▲	Gene ID	Organism	Source
DOID:0070436	hyperphosphatasia with impaired intellectual development syndrome 4 Aliases: GPIBD62 HPMRS6 glycosylphosphatidylinositol biosynthesis defect 62 hyperphosphatasia with mental retardation syndrome 6	PGAP3	35570	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0070436	hyperphosphatasia with impaired intellectual development syndrome 4 Aliases: GPIBD62 HPMRS6 glycosylphosphatidylinositol biosynthesis defect 62 hyperphosphatasia with mental retardation syndrome 6	PGAP3	93210	Homo sapiens (human)	Alliance of Genome Resources
DOID:440	neuromuscular disease	PGI1	852495	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
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)	Alliance of Genome Resources
DOID:583	hemolytic anemia Aliases: ANEMIA HEMOLYTIC	PGK1 ZWF1	850370 855480	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
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	Alliance of Genome Resources
DOID:0080570	congenital disorder of glycosylation It Aliases: congenital disorder of glycosylation 1t	PGM1 PGM5	5236 5239	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:0080570	congenital disorder of glycosylation It Aliases: congenital disorder of glycosylation 1t	PGM1 PGM2	853732 855131	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
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)	Alliance of Genome Resources
DOID:0050161	lower respiratory tract disease	PGRP-LC PGRP-LE	32534 39063	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0070287	primary autosomal recessive microcephaly 11 Aliases: MCPH11	PHC1	1911	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050681	Borjeson-Forssman-Lehmann syndrome Aliases: BFLS BORJ Borjeson syndrome MRXSBFL intellectual deficiency-epilepsy-endocrine disorders syndrome mental retardation, epilepsy, and endocrine disorder syndromic X-linked mental retardation Borjeson-Forssman-Lehmann type	PHF6	84295	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060812	syndromic X-linked intellectual disability Siderius type Aliases: MRXSSD Siderius X-linked mental retardation syndrome Siderius-Hamel syndrome mental retardation syndrome, X-linked, Siderius type	PHF8	23133	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050722	PHGDH deficiency Aliases: PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY	PHGDH	26227	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080076	Neu-Laxova syndrome 1	PHGDH	26227	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111040	glycogen storage disease IXd Aliases: GSD IXd GSD due to muscle phosphorylase kinase deficiency GSD type 9D GSD type 9E GSD type IXd GSD type IXe GSD9D X-linked muscke glycogenosis glycogen storage disease due to muscle phosphorylase kinase deficiency glycogen storage disease type 9D glycogen storage disease type 9E glycogen storage disease type IXd glycogen storage disease type IXe glycogenosis due to muscle phosphorylase kinase deficiency glycogenosis type 9D glycogenosis type 9E glycogenosis type IXd glycogenosis type IXe muscle phosphorylase kinase deficiency	PHKA1	5255	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111042	glycogen storage disease IXa Aliases: GSD type 9A GSD type IXa GSD9A glycogen storage disease type 9A glycogen storage disease type IXa glycogenosis type 9A glycogenosis type IXa	PHKA2	5256	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111041	glycogen storage disease IXb Aliases: GSD IXb GSD due to liver and muscle phosphorylase kinase deficiency GSD type 9B GSD type IXb GSD9B glycogen storage disease type 9B glycogen storage disease type IXb glycogenosis due to liver and muscle phosphorylase kinase deficiency glycogenosis type 9B glycogenosis type IXb	PHKB	5257	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111043	glycogen storage disease IXc Aliases: GSD type 9C GSD type IXc GSD9C glycogen storage disease type 9C glycogen storage disease type IXc glycogenosis type 9C glycogenosis type IXc	PHKG2	5261	Homo sapiens (human)	Alliance of Genome Resources
DOID:8577	ulcerative colitis Aliases: Left-sided ulcerative colitis	PHO8 RHO1 SMF3 STE6	850721 852092 853671 856294	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:3565	meningioma Aliases: meningeal neoplasm meningothelial cell tumor neoplasm of the meninges primary Meningeal tumor	PHO8 SNF5	852092 852592	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:3594	choriocarcinoma Aliases: Chorioepithelioma	PHO8	852092	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:13809	familial combined hyperlipidemia Aliases: familial multiple lipoprotein-type hyperlipidemia hyperbetalipoproteinemia with prebetalipoproteinemia mixed hyperlipidaemia type IIb hyperlipoproteinemia	PHO8	852092	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0110913	adult hypophosphatasia Aliases: mild hypophosphatasia	PHO8	852092	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:182	calcinosis Aliases: Pathologically calcified structure pathologic calcification	PHO8	852092	Saccharomyces cerevisiae S288C	Alliance of Genome Resources

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