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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 **1 - 25** of **152** in total

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Concept UI	Disease Name	Gene Symbol ▼	Disease Name Aliases	Disease Type	UniProt ID	Disease IDs
CON00369	TUSC3-CDG	TUSC3	Mental retardation, autosomal recessive 22 Mental retardation, autosomal recessive 7 (MRT7) Oligosaccharyltransferase TUSC3 subunit defect	Congenital Disorders of Glycosylation (CDGs)	Q13454	DOID:0081183
CON00626	TMEM165-CDG	TMEM165	CDG-IIk Congenital Disorder of Glycosylation, Type IIk	Congenital Disorders of Glycosylation (CDGs)	Q9HC07	DOID:0070263
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
CON00078	Multiple sulfatase deficiency	SUMF1	MSD Multiple sulfatase deficiency disease	Lysosomal Storage Diseases (LSDs)	Q8NBK3	DOID:0050441
CON00630	Mental retardation, autosomal recessive 12	ST3GAL3	MRT12	Congenital Disorders of Glycosylation (CDGs)	Q11203	DOID:0081180
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
CON00086	Niemann-Pick disease, type A	SMPD1	neurological type	Lysosomal Storage Diseases (LSDs)	P17405	DOID:0070111
CON00087	Niemann-Pick disease, type B	SMPD1	non-neurological type	Lysosomal Storage Diseases (LSDs)	P17405	DOID:0070112
CON00399	SLC35D1-CDG	SLC35D1	Chondrodysplasia, lethal neonatal, with snail-like pelvis Schneckenbecken dysplasia	Congenital Disorders of Glycosylation (CDGs)	Q9NTN3	DOID:0050775
CON00360	SLC35C1-CDG	SLC35C1	CDG-IIc Congenital disorder of glycosylation, type IIc Leukocyte adhesion deficiency, type 2 Rambam Hasharon syndrome	Congenital Disorders of Glycosylation (CDGs)	Q96A29	DOID:0070255
CON00363	SLC35A1-CDG	SLC35A1	CDG-IIf Congenital disorder of glycosylation, type IIf	Congenital Disorders of Glycosylation (CDGs)	P78382	DOID:0070258
CON00395	Diastrophic dysplasia	SLC26A2	Diastrophic dwarfism	Congenital Disorders of Glycosylation (CDGs)	P50443	DOID:14687
CON00396	Achondrogenesis type IB	SLC26A2	ACG1B Achondrogenesis, Fraccaro type	Congenital Disorders of Glycosylation (CDGs)	P50443	DOID:0080055
CON00397	Neonatal osseous dysplasia I	SLC26A2	Atelosteogenesis, type II (AOII)	Congenital Disorders of Glycosylation (CDGs)	P50443	DOID:0050648
CON00398	Autosomal recessive multiple epiphyseal dysplasia	SLC26A2	Epiphyseal dysplasia, multiple, 4 (EDM4)	Congenital Disorders of Glycosylation (CDGs)	P50443	DOID:0070300
CON00412	ST3GAL5-CDG	SIAT9	Amish infantile epilepsy syndrome Epilepsy syndrome, infantile-onset symptomatic GM3 Synthase deficiency	Congenital Disorders of Glycosylation (CDGs)	Q9UNP4	DOID:0060470
CON00034	Sanfilippo syndrome A	SGSH	MPS IIIA Mucopolysaccharidosis type IIIA	Lysosomal Storage Diseases (LSDs)	P51688	DOID:0111393 DOID:0111394 DOID:0111395 DOID:0111402 DOID:12801
CON00373	SEC23B-CDG	SEC23B	CDA II Congenital dyserythropoietic anaemia, type II Hereditary Erythroblastic Multinuclearity with Positive Acidified-Serum Test (HEMPAS)	Congenital Disorders of Glycosylation (CDGs)	Q15437	DOID:0111397 DOID:0111399 DOID:0111401 DOID:1338
CON00356	RFT1-CDG	RFT1	CDG-In Congenital disorder of glycosylation, type In RFT1 (flippase) deficiency	Congenital Disorders of Glycosylation (CDGs)	Q96AA3	DOID:0080566
CON00072	Gaucher disease, atypical, due to saposin C deficiency	PSAP		Lysosomal Storage Diseases (LSDs)	P07602	DOID:0110961
CON00084	Metachromatic leukodystrophy, due to saposin B deficiency	PSAP	Sphingolipid activator protein 1 deficiency	Lysosomal Storage Diseases (LSDs)	P07602	DOID:10581
CON00098	Combined saposin deficiency	PSAP	prosaposin deficiency saposin deficiency	Lysosomal Storage Diseases (LSDs)	P07602	DOID:0111330
CON00376	POMT1/POMT2-CDG (cong. muscular dystrophy spectrum)	POMT1,POMT2	Muscular dystrophy-dystroglycanopathy (Congenital with brain and eye anomalies), type A, 1 (MDDGA1) Muscular dystrophy-dystroglycanopathy (Congenital with brain and eye anomalies), type A, 2 (MDDGA2) Walker-Warburg syndrome (WWS)	Congenital Disorders of Glycosylation (CDGs)
CON00377	POMGNT1-CDG (cong. muscular dystrophy spectrum)	POMGNT1	Muscle-eye-brain disease (MEB) Muscular dystrophy-dystroglycanopathy (Congenital with brain and eye anomalies), type A, 3 (MDDGA3)	Congenital Disorders of Glycosylation (CDGs)	Q8WZA1	DOID:0050560 DOID:0111236
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

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