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 ▼
CON00631	Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects	B3GAT3		Congenital Disorders of Glycosylation (CDGs)	O94766	DOID:0080575
CON00625	PGM1-CDG	PGM1	CDG-It Congenital Disorder of Glycosylation, Type It	Congenital Disorders of Glycosylation (CDGs)	P36871	DOID:0080570
CON00623	DDOST-CDG	DDOST	CDG-Ir Congenital Disorder of Glycosylation, Type Ir	Congenital Disorders of Glycosylation (CDGs)	P39656	DOID:0080569
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
CON00621	ALG11-CDG	ALG11	CDG-Ip Congenital Disorder of Glycosylation, Type Ip	Congenital Disorders of Glycosylation (CDGs)	Q2TAA5	DOID:0080567
CON00356	RFT1-CDG	RFT1	CDG-In Congenital disorder of glycosylation, type In RFT1 (flippase) deficiency	Congenital Disorders of Glycosylation (CDGs)	Q96AA3	DOID:0080566
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
CON00354	ALG9-CDG	ALG9	CDG-IL Congenital disorder of glycosylation, type IL	Congenital Disorders of Glycosylation (CDGs)	Q9H6U8	DOID:0080564
CON00353	ALG1-CDG	ALG1	CDG-Ik Congenital disorder of glycosylation, type Ik	Congenital Disorders of Glycosylation (CDGs)	Q9BT22	DOID:0080563
CON00352	DPAGT1-CDG	DPAGT1	CDG-Ij Congenital disorder of glycosylation, type Ij	Congenital Disorders of Glycosylation (CDGs)	Q9H3H5	DOID:0080562
CON00350	ALG8-CDG	ALG8	CDG-Ih Congenital disorder of glycosylation, type Ih	Congenital Disorders of Glycosylation (CDGs)	Q9BVK2	DOID:0080560
CON00349	ALG12-CDG	ALG12	CDG-Ig Congenital disorder of glycosylation, type Ig	Congenital Disorders of Glycosylation (CDGs)	Q9BV10	DOID:0080559
CON00348	MPDU1-CDG	MPDU1	CDG-If Congenital disorder of glycosylation, type If	Congenital Disorders of Glycosylation (CDGs)	O75352	DOID:0080558
CON00347	DPM1-CDG	DPM1	CDG-Ie Congenital disorder of glycosylation, type Ie	Congenital Disorders of Glycosylation (CDGs)	O60762	DOID:0080557
CON00346	ALG3-CDG	ALG3	CDG-Id Congenital disorder of glycosylation, type Id	Congenital Disorders of Glycosylation (CDGs)	Q92685	DOID:0080556
CON00345	ALG6-CDG	ALG6	CDG-Ic Congenital disorder of glycosylation, type Ic	Congenital Disorders of Glycosylation (CDGs)	Q9Y672	DOID:0080555
CON00344	MPI-CDG	MPI	CDG-Ib Congenital disorder of glycosylation, type Ib Mannosephosphate isomerase deficiency Protein-losing enteropathy-hepatic fibrosis syndrome Saguenay-Lac Saint-Jean syndrome	Congenital Disorders of Glycosylation (CDGs)	P34949	DOID:0080554
CON00343	PMM2-CDG	PMM2	CDG-Ia Congenital disorder of glycosylation, type Ia Jaeken syndrome Phosphomannomutase 2 deficiency	Congenital Disorders of Glycosylation (CDGs)	O15305	DOID:0080552
CON00429	PMM2-CDG, infantile multisystem stage	PMM2		Congenital Disorders of Glycosylation (CDGs)	O15305	DOID:0080552
CON00430	PMM2-CDG, late-infantile and childhood ataxia-intellectual disability stage	PMM2		Congenital Disorders of Glycosylation (CDGs)	O15305	DOID:0080552
CON00431	PMM2-CDG, adult stable disability stage	PMM2		Congenital Disorders of Glycosylation (CDGs)	O15305	DOID:0080552
CON00023	Galactosialidosis	CTSA	Combined deficiency of sialidase AND beta galactosidase	Lysosomal Storage Diseases (LSDs)	P10619	DOID:0080540
CON00401	Tn polyagglutination syndrome, somatic (SOMATIC MUTATION)	C1GALT1C1	Galactosyltransferase Deficiency Tn syndrome (SOMATIC MUTATION)	Congenital Disorders of Glycosylation (CDGs)	Q96EU7	DOID:0080520
CON00051	GM1-gangliosidosis, type I	GLB1	infantile form	Lysosomal Storage Diseases (LSDs)	P16278	DOID:0080502 DOID:3322
CON00052	GM1-gangliosidosis, type II	GLB1	Derry syndrome juvenile form	Lysosomal Storage Diseases (LSDs)	P16278	DOID:0080501 DOID:3322

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