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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 **11651 - 11675** of **15957** in total

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Disease ID	Disease Name	Gene Symbol ▲	Gene ID	Organism	Source
DOID:0111301	generalized epilepsy with febrile seizures plus 9 Aliases: GEFS+9 GEFSP9 generalised epilepsy with febrile seizures plus 9 generalised epilepsy with febrile seizures plus type 9 generalized epilepsy with febrile seizures plus type 9	Stx1b	56216	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080436	developmental and epileptic encephalopathy 4 Aliases: DEE4 early infantile epileptic encephalopathy 4	Stxbp1	20910	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080124	mitochondrial DNA depletion syndrome 5 Aliases: succinate-CoA ligase deficiency	Sucla2	20916	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080124	mitochondrial DNA depletion syndrome 5 Aliases: succinate-CoA ligase deficiency	Sucla2	361071	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0110344	osteogenesis imperfecta type 5 Aliases: OI5 osteogenesis imperfecta type V	Suco	226551	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110344	osteogenesis imperfecta type 5 Aliases: OI5 osteogenesis imperfecta type V	Suco	360863	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0050441	mucosulfatidosis Aliases: Sulfatidosis, Juvenile, Austin Type multiple sulfatase deficiency disease	Sumf1	58911	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070184	spermatogenic failure 16 Aliases: SPGF16 acephalic spermatozoa syndrome	Sun5	76407	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070469	neurodevelopmental disorder with dysmorphic facies and thin corpus callosum Aliases: NEDDFAC	Supt16	114741	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0112108	myofibrillar myopathy 10 Aliases: MFM10	Svil	225115	Mus musculus (house mouse)	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	Syn	41247	Drosophila melanogaster (fruit fly)	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	Syn	41247	Drosophila melanogaster (fruit fly)	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	20964	Mus musculus (house mouse)	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	20964	Mus musculus (house mouse)	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	24949	Rattus norvegicus (Norway rat)	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	24949	Rattus norvegicus (Norway rat)	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	64009	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080954	arthrogryposis multiplex congenita	Syne1	64009	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080979	arthrogryposis multiplex congenita-3	Syne1	64009	Mus musculus (house mouse)	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	64009	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070250	autosomal dominant Emery-Dreifuss muscular dystrophy 5 Aliases: EDMD5 Emery-Dreifuss muscular dystrophy 5, autosomal dominant	Syne2	319565	Mus musculus (house mouse)	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	240057	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060894	early-onset Parkinson's disease Aliases: early-onset Parkinson disease	Synj1	85238	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0080464	developmental and epileptic encephalopathy 53 Aliases: DEE53 early infantile epileptic encephalopathy 53	Synj1	85238	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0060898	Parkinson's disease 20 Aliases: early-onset Parkinson disease 20 early-onset Parkinson's disease 20	Synj1	85238	Rattus norvegicus (Norway rat)	Alliance of Genome Resources

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