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 **126 - 150** of **152** in total

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Concept UI ▲	Disease Name	Gene Symbol	Disease Name Aliases	Disease Type	UniProt ID	Disease IDs
CON00405	LFNG-CDG	LFNG	SCDO3 Spondylocostal dysostosis 3, autosomal recessive	Congenital Disorders of Glycosylation (CDGs)	Q8NES3	DOID:0112361
CON00407	Ehlers-Danlos syndrome, type VI	PLOD1	Ehlers-Danlos syndrome, kyphoscoliotic type Nevo syndrome	Congenital Disorders of Glycosylation (CDGs)	Q02809	DOID:0080734 DOID:14775
CON00408	Bruck syndrome 2	PLOD2	BRKS2 Osteogenesis imperfecta with congenital joint contractures	Congenital Disorders of Glycosylation (CDGs)	O00469	DOID:0060231
CON00409	Lysyl hydroxylase 3 deficiency	PLOD3	Bone fragility with contractures, arterial rupture, and deafness LH3 deficiency	Congenital Disorders of Glycosylation (CDGs)	O60568
CON00412	ST3GAL5-CDG	SIAT9	Amish infantile epilepsy syndrome Epilepsy syndrome, infantile-onset symptomatic GM3 Synthase deficiency	Congenital Disorders of Glycosylation (CDGs)	Q9UNP4	DOID:0060470
CON00414	Paroxysmal nocturnal hemoglobinuria, somatic (SOMATIC MUTATION)	PIGA	PNH1 Paroxysmal nocturnal hemoglobinuria 1	Congenital Disorders of Glycosylation (CDGs)	P37287	DOID:0060284
CON00415	PIGM-CDG	PIGM	Autosomal recessive GPI anchor deficiency Glycosylphosphatidylinositol deficiency	Congenital Disorders of Glycosylation (CDGs)	Q9H3S5
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
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
CON00626	TMEM165-CDG	TMEM165	CDG-IIk Congenital Disorder of Glycosylation, Type IIk	Congenital Disorders of Glycosylation (CDGs)	Q9HC07	DOID:0070263
CON00627	COG6-CDG	COG6	CDG-IIL Congenital Disorder of Glycosylation, Type IIL	Congenital Disorders of Glycosylation (CDGs)	Q9Y2V7	DOID:0070264
CON00628	Myasthenia, congenital, with tubular aggregates 1	GFPT1	CMSTA1	Congenital Disorders of Glycosylation (CDGs)	Q06210	DOID:0110660
CON00629	Mental retardation, autosomal recessive 15	MAN1B1	MRT15	Congenital Disorders of Glycosylation (CDGs)	Q9UKM7	DOID:0081097
CON00630	Mental retardation, autosomal recessive 12	ST3GAL3	MRT12	Congenital Disorders of Glycosylation (CDGs)	Q11203	DOID:0081180
CON00631	Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects	B3GAT3		Congenital Disorders of Glycosylation (CDGs)	O94766	DOID:0080575
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
CON00634	Ehlers-Danlos syndrome, musculocontractural type	CHST14	Adducted thumb and clubfoot syndrome	Congenital Disorders of Glycosylation (CDGs)	Q8NCH0	DOID:0080736

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