GlyCosmos Portal

Homo sapiens (human)

Summary

Gene Symbol	Gene Symbol Aliases	Gene ID	Disease Name ▲
PGM1		5236	PGM1-CDG
PIGM	DPM:GlcN-(acyl-)PI mannosyltransferase GPI mannosyltransferase 1 GPI-MT-I PIG-M dol-P-Man dependent GPI mannosyltransferase	93183	PIGM-CDG
PMM2	CDG1a CDGS Congenital disorder of glycosylation, type Ia PMI PMI1 mannose-6-phosphate isomerase phosphomannose isomerase 1	5373	PMM2-CDG PMM2-CDG, adult stable disability stage PMM2-CDG, infantile multisystem stage PMM2-CDG, late-infantile and childhood ataxia-intellectual disability stage
POMGNT1	FLJ20277 LGMD2O MGAT1.2 protein O-mannose beta-1,2-N-acetylglucosaminyltransferase	55624	POMGNT1-CDG (cong. muscular dystrophy spectrum)
PIGA	GPI3 GPI3 (SPT14) homolog (S. cerevisiae) PIG-A Phosphatidylinositol N-acetylglucosaminyltransferase subunit A paroxysmal nocturnal hemoglobinuria	5277	Paroxysmal nocturnal hemoglobinuria, somatic (SOMATIC MUTATION)
GAA	Pompe disease glycogen storage disease type II	2548	Pompe disease Pompe disease, infantile-onset form Pompe disease, late-onset form
RFT1	CDG1N congenital disorder of glycosylation 1N	91869	RFT1-CDG
SLC35A1	CMP-Sia-Tr CMP-sialic acid transporter CMPST hCST	10559	SLC35A1-CDG
SLC35C1	FLJ11320 FUCT1 GDP-fucose transporter 1	55343	SLC35C1-CDG
SLC35D1	KIAA0260 UDP-glucuronic acid/UDP-N-acetylgalactosamine transporter UGTREL7	23169	SLC35D1-CDG