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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 **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
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
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
CON00035	Sanfilippo syndrome B	NAGLU	MPS IIIB Mucopolysaccharidosis type IIIB	Lysosomal Storage Diseases (LSDs)	P54802	DOID:0111394
CON00073	Krabbe disease	GALC	Galactosylceramide beta-galactosidase deficiency Globoid cell leukodystrophy Krabbe leukodystrophy Leukodystrophy, globoid cell	Lysosomal Storage Diseases (LSDs)	P54803	DOID:10587
CON00074	Krabbe disease, infantile form	GALC		Lysosomal Storage Diseases (LSDs)	P54803	DOID:10587
CON00075	Krabbe disease, late-onset form	GALC		Lysosomal Storage Diseases (LSDs)	P54803	DOID:10587
CON00090	Niemann-Pick disease, type C2	NPC2		Lysosomal Storage Diseases (LSDs)	P61916	DOID:0070114
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
CON00407	Ehlers-Danlos syndrome, type VI	PLOD1	Ehlers-Danlos syndrome, kyphoscoliotic type Nevo syndrome	Congenital Disorders of Glycosylation (CDGs)	Q02809	DOID:0080734 DOID:14775
CON00628	Myasthenia, congenital, with tubular aggregates 1	GFPT1	CMSTA1	Congenital Disorders of Glycosylation (CDGs)	Q06210	DOID:0110660
CON00358	MGAT2-CDG	MGAT2	CDG-IIa Congenital disorder of glycosylation, type IIa	Congenital Disorders of Glycosylation (CDGs)	Q10469	DOID:0070253
CON00630	Mental retardation, autosomal recessive 12	ST3GAL3	MRT12	Congenital Disorders of Glycosylation (CDGs)	Q11203	DOID:0081180
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
CON00091	Farber Lipogranulomatosis	ASAH1	Acid Ceramidase Deficiency	Lysosomal Storage Diseases (LSDs)	Q13510	DOID:0050464
CON00092	Farber Lipogranulomatosis, type 1	ASAH1		Lysosomal Storage Diseases (LSDs)	Q13510	DOID:0050464
CON00093	Farber Lipogranulomatosis, type 2	ASAH1		Lysosomal Storage Diseases (LSDs)	Q13510	DOID:0050464
CON00094	Farber Lipogranulomatosis, type 3	ASAH1		Lysosomal Storage Diseases (LSDs)	Q13510	DOID:0050464
CON00095	Farber Lipogranulomatosis, type 4	ASAH1		Lysosomal Storage Diseases (LSDs)	Q13510	DOID:0050464
CON00096	Farber Lipogranulomatosis, type 5	ASAH1		Lysosomal Storage Diseases (LSDs)	Q13510	DOID:0050464
CON00359	GCS1-CDG	GCS1	CDG-IIb Congenital disorder of glycosylation, type IIb MOGS-CDG	Congenital Disorders of Glycosylation (CDGs)	Q13724	DOID:0070254
CON00402	GALNT3-CDG	GALNT3	Tumoral calcinosis, hyperphosphatemic, familial	Congenital Disorders of Glycosylation (CDGs)	Q14435	DOID:0111063
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

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