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 **26 - 50** of **152** in total

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Concept UI	Disease Name	Gene Symbol	Disease Name Aliases	Disease Type	UniProt ID ▼	Disease IDs
CON00349	ALG12-CDG	ALG12	CDG-Ig Congenital disorder of glycosylation, type Ig	Congenital Disorders of Glycosylation (CDGs)	Q9BV10	DOID:0080559
CON00353	ALG1-CDG	ALG1	CDG-Ik Congenital disorder of glycosylation, type Ik	Congenital Disorders of Glycosylation (CDGs)	Q9BT22	DOID:0080563
CON00012	Sialidosis	NEU1	Mucolipidosis I Neuraminidase deficiency	Lysosomal Storage Diseases (LSDs)	Q99519	DOID:3343
CON00013	Sialidosis type I	NEU1	Cherry-red spot myoclonus syndrome Normosomatic sialidosis	Lysosomal Storage Diseases (LSDs)	Q99519	DOID:3343
CON00014	Sialidosis type II	NEU1	Dysmorphic sialidosis Neuraminidase 1 deficiency	Lysosomal Storage Diseases (LSDs)	Q99519	DOID:3343
CON00015	Sialidosis type II, congenital form	NEU1		Lysosomal Storage Diseases (LSDs)	Q99519	DOID:3343
CON00016	Sialidosis type II, infantile form	NEU1		Lysosomal Storage Diseases (LSDs)	Q99519	DOID:3343
CON00017	Sialidosis type II, juvenile form	NEU1		Lysosomal Storage Diseases (LSDs)	Q99519	DOID:3343
CON00365	COG8-CDG	COG8	CDG-IIh COG8 deficiency Congenital disorder of glycosylation, type IIh	Congenital Disorders of Glycosylation (CDGs)	Q96MW5	DOID:0070260
CON00401	Tn polyagglutination syndrome, somatic (SOMATIC MUTATION)	C1GALT1C1	Galactosyltransferase Deficiency Tn syndrome (SOMATIC MUTATION)	Congenital Disorders of Glycosylation (CDGs)	Q96EU7	DOID:0080520
CON00356	RFT1-CDG	RFT1	CDG-In Congenital disorder of glycosylation, type In RFT1 (flippase) deficiency	Congenital Disorders of Glycosylation (CDGs)	Q96AA3	DOID:0080566
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
CON00346	ALG3-CDG	ALG3	CDG-Id Congenital disorder of glycosylation, type Id	Congenital Disorders of Glycosylation (CDGs)	Q92685	DOID:0080556
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
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
CON00405	LFNG-CDG	LFNG	SCDO3 Spondylocostal dysostosis 3, autosomal recessive	Congenital Disorders of Glycosylation (CDGs)	Q8NES3	DOID:0112361
CON00634	Ehlers-Danlos syndrome, musculocontractural type	CHST14	Adducted thumb and clubfoot syndrome	Congenital Disorders of Glycosylation (CDGs)	Q8NCH0	DOID:0080736
CON00078	Multiple sulfatase deficiency	SUMF1	MSD Multiple sulfatase deficiency disease	Lysosomal Storage Diseases (LSDs)	Q8NBK3	DOID:0050441
CON00632	Temtamy preaxial brachydactyly syndrome	CHSY1	TPBS	Congenital Disorders of Glycosylation (CDGs)	Q86X52	DOID:0050814
CON00633	Spondyloepiphyseal dysplasia with congenital joint dislocations	CHST3	Spondyloepiphyseal dysplasia, Omani type	Congenital Disorders of Glycosylation (CDGs)	Q7LGC8	DOID:0050813
CON00404	B3GALTL-CDG	B3GALTL	Krause-Kivlin syndrome Peters anomaly with short limb dwarfism Peters-plus syndrome	Congenital Disorders of Glycosylation (CDGs)	Q6Y288	DOID:0080201
CON00036	Sanfilippo syndrome C	HGSNAT	MPS IIIC Mucopolysaccharidosis type IIIC	Lysosomal Storage Diseases (LSDs)	Q68CP4	DOID:0111393
CON00025	Mucolipidosis II (alpha/beta)	GNPTAB	I-cell disease ML-II N-Acetylglucosamine-1-phosphotransferase deficiency	Lysosomal Storage Diseases (LSDs)	Q3T906	DOID:0080070 DOID:3343
CON00026	Mucolipidosis III (alpha/beta)	GNPTAB	ML-III Pseudo-Hurler Polydystrophy	Lysosomal Storage Diseases (LSDs)	Q3T906	DOID:0080071 DOID:3343
CON00621	ALG11-CDG	ALG11	CDG-Ip Congenital Disorder of Glycosylation, Type Ip	Congenital Disorders of Glycosylation (CDGs)	Q2TAA5	DOID:0080567

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