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GlyCosmos Diseases

List of diseases involving glycan related genes. The information of each database of Glyco-Disease Genes Database (GDGDB) and Alliance of Genome Resources is integrated into one list.

Source	Last Updated
Alliance of Genome Resources	October 9, 2024
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **11101 - 11125** of **15957** in total

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Disease ID	Disease Name	Gene Symbol ▲	Gene ID	Organism	Source
DOID:0080572	congenital disorder of glycosylation Iw Aliases: congenital disorder of glycosylation 1w	STT3A STT3B	201595 3703	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080573	congenital disorder of glycosylation Ix Aliases: congenital disorder of glycosylation 1x	STT3B	201595	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080436	developmental and epileptic encephalopathy 4 Aliases: DEE4 early infantile epileptic encephalopathy 4	STXBP1	6812	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110925	familial hemophagocytic lymphohistiocytosis 5 Aliases: FHL5 HLH5 HPLH5	STXBP2	6813	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080124	mitochondrial DNA depletion syndrome 5 Aliases: succinate-CoA ligase deficiency	SUCLA2	8803	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080128	mitochondrial DNA depletion syndrome 9 Aliases: fatal infantile lactic acidosis	SUCLG1	8802	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110344	osteogenesis imperfecta type 5 Aliases: OI5 osteogenesis imperfecta type V	SUCO	51430	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080258	autosomal recessive congenital ichthyosis 14	SULT2B1	6820	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050441	mucosulfatidosis Aliases: Sulfatidosis, Juvenile, Austin Type multiple sulfatase deficiency disease	SUMF1	285362	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:0080403	orofacial cleft 10 Aliases: nonsyndromic cleft lip with or without cleft palate 10	SUMO1	7341	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070469	neurodevelopmental disorder with dysmorphic facies and thin corpus callosum Aliases: NEDDFAC	SUPT16H	11198	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110187	Charcot-Marie-Tooth disease type 4K Aliases: CMT4K SURF1-related CMT4 SURF1-related Charcot-Marie-Tooth disease type 4 SURF1-related severe demyelinating Charcot-Marie-Tooth disease autosomal recessive demyelinating Charcot-Marie-Tooth disease type 4K autosomal recessive demyelinating Charcot-Marie-Tooth neuropathy type 4K	SURF1	6834	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070491	mitochondrial complex IV deficiency nuclear type 1 Aliases: MC4DN1	SURF1	6834	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112108	myofibrillar myopathy 10 Aliases: MFM10	SVIL	6840	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112029	non-syndromic X-linked intellectual disability 50 Aliases: MRX50 X-linked intellectual developmental disorder 50 X-linked mental retardation 50 XLID50	SYN1	6853	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112122	X-linked epilepsy with variable learning disabilities and behavior disorders Aliases: X-linked epilepsy-learning disabilities-behavior disorders syndrome	SYN1	6853	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080954	arthrogryposis multiplex congenita	SYNE1 VPS33B	23345 26276	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070249	autosomal dominant Emery-Dreifuss muscular dystrophy 4 Aliases: EDMD4 Emery-Dreifuss muscular dystrophy 4 with variable features Emery-Dreifuss muscular dystrophy 4, autosomal dominant	SYNE1	23345	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111618	autosomal recessive spinocerebellar ataxia 8 Aliases: ARCA1 Autosomal recessive cerebellar ataxia type 1 SCAR8 SYNE1-related autosomal recessive cerebellar ataxia autosomal recessive ataxia, Beauce type recessive ataxia of Beauce	SYNE1	23345	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080979	arthrogryposis multiplex congenita-3	SYNE1	23345	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070250	autosomal dominant Emery-Dreifuss muscular dystrophy 5 Aliases: EDMD5 Emery-Dreifuss muscular dystrophy 5, autosomal dominant	SYNE2	23224	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070035	autosomal dominant intellectual developmental disorder 5 Aliases: MRD5 autosomal dominant mental retardation 5 autosomal dominant non-syndromic intellectual disability 5	SYNGAP1	8831	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080464	developmental and epileptic encephalopathy 53 Aliases: DEE53 early infantile epileptic encephalopathy 53	SYNJ1	8867	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060898	Parkinson's disease 20 Aliases: early-onset Parkinson disease 20 early-onset Parkinson's disease 20	SYNJ1	8867	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112035	non-syndromic X-linked intellectual disability 96 Aliases: MRX96 X-linked mental retardation 96	SYP	6855	Homo sapiens (human)	Alliance of Genome Resources

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