GlyCosmos Portal

Glyco-Disease Genes Database (GDGDB)

GDGDB is a database of glycan-related diseases and their responsible genes.

Source	Last Updated
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **76 - 100** of **152** in total

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Concept UI	Disease Name	Gene Symbol	Disease Name Aliases ▲	Disease Type	UniProt ID	Disease IDs
CON00355	DOLK-CDG	TMEM15	CDG-Im Congenital disorder of glycosylation, type Im DK1 deficiency DK1-CDG Dolichol kinase deficiency	Congenital Disorders of Glycosylation (CDGs)	Q9UPQ8	DOID:0080565
CON00356	RFT1-CDG	RFT1	CDG-In Congenital disorder of glycosylation, type In RFT1 (flippase) deficiency	Congenital Disorders of Glycosylation (CDGs)	Q96AA3	DOID:0080566
CON00620	DPM3-CDG	DPM3	CDG-Io Congenital Disorder of Glycosylation, Type Io	Congenital Disorders of Glycosylation (CDGs)	Q9P2X0
CON00621	ALG11-CDG	ALG11	CDG-Ip Congenital Disorder of Glycosylation, Type Ip	Congenital Disorders of Glycosylation (CDGs)	Q2TAA5	DOID:0080567
CON00622	SRD5A3-CDG	SRD5A3	CDG-Iq Congenital Disorder of Glycosylation, Type Iq Ocular colobomas, ichthyosis, brain malformations and endocrine abnormalities	Congenital Disorders of Glycosylation (CDGs)	Q9H8P0	DOID:0080568
CON00623	DDOST-CDG	DDOST	CDG-Ir Congenital Disorder of Glycosylation, Type Ir	Congenital Disorders of Glycosylation (CDGs)	P39656	DOID:0080569
CON00624	ALG13-CDG	ALG13	CDG-Is Congenital Disorder of Glycosylation, Type Is	Congenital Disorders of Glycosylation (CDGs)	Q9NP73	DOID:0080470
CON00625	PGM1-CDG	PGM1	CDG-It Congenital Disorder of Glycosylation, Type It	Congenital Disorders of Glycosylation (CDGs)	P36871	DOID:0080570
CON00628	Myasthenia, congenital, with tubular aggregates 1	GFPT1	CMSTA1	Congenital Disorders of Glycosylation (CDGs)	Q06210	DOID:0110660
CON00380	Cardiomyopathy, dilated, 1X	FKTN	Cardiomyopathy, dilated, 1X (CMD1X) Dilated cardiomyopathy with mild or no proximal muscle weakness FKTN-CDG (cong. muscular dystrophy spectrum)	Congenital Disorders of Glycosylation (CDGs)	O75072	DOID:0110444
CON00013	Sialidosis type I	NEU1	Cherry-red spot myoclonus syndrome Normosomatic sialidosis	Lysosomal Storage Diseases (LSDs)	Q99519	DOID:3343
CON00399	SLC35D1-CDG	SLC35D1	Chondrodysplasia, lethal neonatal, with snail-like pelvis Schneckenbecken dysplasia	Congenital Disorders of Glycosylation (CDGs)	Q9NTN3	DOID:0050775
CON00023	Galactosialidosis	CTSA	Combined deficiency of sialidase AND beta galactosidase	Lysosomal Storage Diseases (LSDs)	P10619	DOID:0080540
CON00381	Muscular dystrophy, congenital, type 1C	FKRP	Congenital muscular dystrophy type 1C (CMD1C) FKRP-CDG (cong. muscular dystrophy spectrum) Muscular dystrophy, congenital, type 1C (MDC1C) Muscular dystrophy-dystroglycanopathy (Congenital with or without mental retardation), type B, 5 (MDDGB5)	Congenital Disorders of Glycosylation (CDGs)	Q9H9S5	DOID:0110635
CON00383	LARGE-CDG (cong. muscular dystrophy spectrum)	LARGE	Congenital muscular dystrophy type 1D (CMD1D) Muscular dystrophy, congenital, type 1D (MDC1D) Muscular dystrophy-dystroglycanopathy (Congenital with mental retardation), type B, 6 (MDDGB6)	Congenital Disorders of Glycosylation (CDGs)	O95461	DOID:0110637
CON00384	Duchenne muscular dystrophy	DMD	DMD Muscular dystrophy, pseudohypertrophic progressive, Duchenne type	Congenital Disorders of Glycosylation (CDGs)	P11532	DOID:11723
CON00052	GM1-gangliosidosis, type II	GLB1	Derry syndrome juvenile form	Lysosomal Storage Diseases (LSDs)	P16278	DOID:0080501 DOID:3322
CON00395	Diastrophic dysplasia	SLC26A2	Diastrophic dwarfism	Congenital Disorders of Glycosylation (CDGs)	P50443	DOID:14687
CON00386	Nonaka myopathy	GNE	Distal myopathy with rimmed vacuoles (DMRV) Distal myopathy, Nonaka type Nonaka myopathy (NM)	Congenital Disorders of Glycosylation (CDGs)	Q9Y223	DOID:0080718
CON00014	Sialidosis type II	NEU1	Dysmorphic sialidosis Neuraminidase 1 deficiency	Lysosomal Storage Diseases (LSDs)	Q99519	DOID:3343
CON00407	Ehlers-Danlos syndrome, type VI	PLOD1	Ehlers-Danlos syndrome, kyphoscoliotic type Nevo syndrome	Congenital Disorders of Glycosylation (CDGs)	Q02809	DOID:0080734 DOID:14775
CON00388	B4GALT7-CDG	B4GALT7	Ehlers-Danlos syndrome, progeroid form Ehlers-Danlos syndrome, progeroid type, 1 Galactosyltransferase 1 deficiency	Congenital Disorders of Glycosylation (CDGs)	Q9UBV7	DOID:0080738
CON00398	Autosomal recessive multiple epiphyseal dysplasia	SLC26A2	Epiphyseal dysplasia, multiple, 4 (EDM4)	Congenital Disorders of Glycosylation (CDGs)	P50443	DOID:0070300
CON00389	EXT1/EXT2-CDG	EXT1,EXT2	Exostoses, multiple, type 1 Exostoses, multiple, type 2 Hereditary multiple exostoses (HME) Hereditary multiple osteochondromas (HMO) Multiple cartilaginous exostoses	Congenital Disorders of Glycosylation (CDGs)
CON00382	Muscular dystrophy, limb-girdle, type 2I	FKRP	FKRP-CDG (cong. muscular dystrophy spectrum) Limb-girdle muscular dystrophy type 2I (LGMD2I) Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5 (MDDGC5)	Congenital Disorders of Glycosylation (CDGs)	Q9H9S5	DOID:0110299

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