GlyCosmos Portal

GlyCosmos Glycogenes

Integrated list of glycan-related genes, including glycosyltransferases, hydrolases, etc. Gene Symbol Aliases include gene descriptions and names of orthologs.

Database	Last Updated
FlyGlycoDB	March 25, 2024
Glyco-Disease Genes Database (GDGDB)	January 25, 2017
GlycoGene Database (GGDB)	January 26, 2018
KEGG BRITE	September 20, 2023
LIPID MAPSGene/Proteome Database	June 24, 2019
Plant GARDEN	May 28, 2020
UniProt	August 23, 2023
Human Phenotype Ontology	July 12, 2023

Gene Symbol	Gene Symbol Aliases	Gene Symbol All	Gene ID	Disease Name ▼	Aliases Disease Name	Species	Taxonomy ID
RFT1	CDG1N congenital disorder of glycosylation 1N	CDG1N congenital disorder of glycosylation 1N RFT1	91869	RFT1-CDG	CDG-In Congenital disorder of glycosylation, type In RFT1 (flippase) deficiency	Homo sapiens	9606
GAA	Pompe disease glycogen storage disease type II	Pompe disease glycogen storage disease type II GAA	2548	Pompe disease Pompe disease, infantile-onset form Pompe disease, late-onset form	GSD type II Lysosomal alpha 1,4 Glucosidase Deficiency Disease	Homo sapiens	9606
PIGA	GPI3 GPI3 (SPT14) homolog (S. cerevisiae) PIG-A Phosphatidylinositol N-acetylglucosaminyltransferase subunit A paroxysmal nocturnal hemoglobinuria	GPI3 GPI3 (SPT14) homolog (S. cerevisiae) PIG-A Phosphatidylinositol N-acetylglucosaminyltransferase subunit A paroxysmal nocturnal hemoglobinuria PIGA	5277	Paroxysmal nocturnal hemoglobinuria, somatic (SOMATIC MUTATION)	PNH1 Paroxysmal nocturnal hemoglobinuria 1	Homo sapiens	9606
POMGNT1	FLJ20277 LGMD2O MGAT1.2 protein O-mannose beta-1,2-N-acetylglucosaminyltransferase	FLJ20277 LGMD2O MGAT1.2 protein O-mannose beta-1,2-N-acetylglucosaminyltransferase POMGNT1	55624	POMGNT1-CDG (cong. muscular dystrophy spectrum)	Muscle-eye-brain disease (MEB) Muscular dystrophy-dystroglycanopathy (Congenital with brain and eye anomalies), type A, 3 (MDDGA3)	Homo sapiens	9606
PMM2	CDG1a CDGS Congenital disorder of glycosylation, type Ia PMI PMI1 mannose-6-phosphate isomerase phosphomannose isomerase 1	CDG1a CDGS Congenital disorder of glycosylation, type Ia PMI PMI1 mannose-6-phosphate isomerase phosphomannose isomerase 1 PMM2	5373	PMM2-CDG PMM2-CDG, adult stable disability stage PMM2-CDG, infantile multisystem stage PMM2-CDG, late-infantile and childhood ataxia-intellectual disability stage	CDG-Ia Congenital disorder of glycosylation, type Ia Jaeken syndrome Phosphomannomutase 2 deficiency	Homo sapiens	9606
PIGM	DPM:GlcN-(acyl-)PI mannosyltransferase GPI mannosyltransferase 1 GPI-MT-I PIG-M dol-P-Man dependent GPI mannosyltransferase	DPM:GlcN-(acyl-)PI mannosyltransferase GPI mannosyltransferase 1 GPI-MT-I PIG-M dol-P-Man dependent GPI mannosyltransferase PIGM	93183	PIGM-CDG	Autosomal recessive GPI anchor deficiency Glycosylphosphatidylinositol deficiency	Homo sapiens	9606
PGM1		PGM1	5236	PGM1-CDG	CDG-It Congenital Disorder of Glycosylation, Type It	Homo sapiens	9606
SMPD1	ASM Niemann-Pick type A/B acid sphingomyelinase	ASM Niemann-Pick type A/B acid sphingomyelinase SMPD1	6609	Niemann-Pick disease, type A Niemann-Pick disease, type B	neurological type non-neurological type	Homo sapiens	9606
GFPT1	GFA GFAT GFAT1	GFA GFAT GFAT1 GFPT1	2673	Myasthenia, congenital, with tubular aggregates 1	CMSTA1	Homo sapiens	9606
FKRP	FKTR LGMD2I MDC1C	FKTR LGMD2I MDC1C FKRP	79147	Muscular dystrophy, congenital, type 1C Muscular dystrophy, limb-girdle, type 2I	Congenital muscular dystrophy type 1C (CMD1C) FKRP-CDG (cong. muscular dystrophy spectrum) Limb-girdle muscular dystrophy type 2I (LGMD2I) Muscular dystrophy, congenital, type 1C (MDC1C) Muscular dystrophy-dystroglycanopathy (Congenital with or without mental retardation), type B, 5 (MDDGB5) Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5 (MDDGC5)	Homo sapiens	9606