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 **51 - 75** of **152** in total

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Concept UI ▼	Disease Name	Gene Symbol	Disease Name Aliases	Disease Type	UniProt ID	Disease IDs
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
CON00371	ATP6VOA2-CDG	ATP6V0A2	ATP6VOA2 defect (cutis laxa type II) Cutis laxa, autosomal recessive, type IIA (ARCL2A) Debre-Type cutis laxa V-ATPase a2 subunit defect	Congenital Disorders of Glycosylation (CDGs)	Q9Y487	DOID:0070134
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
CON00367	COG4-CDG	COG4	CDG-IIj Congenital disorder of glycosylation, type IIj	Congenital Disorders of Glycosylation (CDGs)	Q9H9E3	DOID:0070262
CON00366	COG5-CDG	COG5	CDG-IIi Congenital disorder of glycosylation, type IIi	Congenital Disorders of Glycosylation (CDGs)	Q9UP83	DOID:0070261
CON00365	COG8-CDG	COG8	CDG-IIh COG8 deficiency Congenital disorder of glycosylation, type IIh	Congenital Disorders of Glycosylation (CDGs)	Q96MW5	DOID:0070260
CON00364	COG1-CDG	COG1	CDG-IIg CDGII/COG1 Cerebrocostomandibular-like syndrome COG1 deficiency Congenital disorder of glycosylation, type IIg	Congenital Disorders of Glycosylation (CDGs)	Q8WTW3	DOID:0070259
CON00363	SLC35A1-CDG	SLC35A1	CDG-IIf Congenital disorder of glycosylation, type IIf	Congenital Disorders of Glycosylation (CDGs)	P78382	DOID:0070258
CON00362	COG7-CDG	COG7	CDG-IIe Congenital disorder of glycosylation, type IIe	Congenital Disorders of Glycosylation (CDGs)	P83436	DOID:0070257
CON00361	B4GALT1-CDG	B4GALT1	CDG-IId Congenital disorder of glycosylation, type IId	Congenital Disorders of Glycosylation (CDGs)	P15291	DOID:0070256
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
CON00359	GCS1-CDG	GCS1	CDG-IIb Congenital disorder of glycosylation, type IIb MOGS-CDG	Congenital Disorders of Glycosylation (CDGs)	Q13724	DOID:0070254
CON00358	MGAT2-CDG	MGAT2	CDG-IIa Congenital disorder of glycosylation, type IIa	Congenital Disorders of Glycosylation (CDGs)	Q10469	DOID:0070253
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
CON00351	ALG2-CDG	ALG2	CDG-Ii Congenital disorder of glycosylation, type Ii	Congenital Disorders of Glycosylation (CDGs)	Q9H553	DOID:0050571 DOID:0080561
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

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