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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 **6776 - 6800** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▲	Organism	Source
DOID:0060412	chromosome 1q41-q42 deletion syndrome Aliases: 1q41-q42 microdeletion syndrome 1q41q42 microdeletion syndrome	Trp53bp2	209456	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110883	inflammatory bowel disease 17 Aliases: IBD17	Il23r	209590	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111279	psoriasis 7 Aliases: PSORS7	Il23r	209590	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	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:0111453	2-aminoadipic 2-oxoadipic aciduria Aliases: AMOXAD alpha-aminoadipic aciduria	Dhtkd1	209692	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110170	Charcot-Marie-Tooth disease axonal type 2Q Aliases: CMT2Q Charcot-Marie-Tooth neuropathy type 2Q autosomal dominant Charcot-Marie-Tooth disease type 2Q autosomal dominant axonal Charcot-Marie-Tooth disease type 2Q	Dhtkd1	209692	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060894	early-onset Parkinson's disease Aliases: early-onset Parkinson disease	Park7 Synj2	20975 57320	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0112035	non-syndromic X-linked intellectual disability 96 Aliases: MRX96 X-linked mental retardation 96	Syp	20977	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:439	neuromuscular junction disease	Idh3a Syt1 Syt2	20979 20980 67834	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110659	congenital myasthenic syndrome 7 Aliases: CMS7 congenital myasthenic syndrome 7 presynaptic	Syt1 Syt2	20979 20980	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:8029	sporadic breast cancer	ESR1 MLH1 PHB1 PTEN	2099 4292 5245 5728	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111225	centronuclear myopathy X-linked Aliases: CNMX MTM1 X-linked myotubular myopathy XLCNM XLMTM myotubular myopathy 1	Mtmr1 Mtmr9	210376 53332	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060358	multiple acyl-CoA dehydrogenase deficiency Aliases: MAD deficiency MADD electron transfer flavoprotein deficiency electron transfer flavoprotein ubiquinone oxidoreductase deficiency glutaric acidemia type 2 glutaric aciduria type 2	ETFB	2109	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110728	neuronal ceroid lipofuscinosis 5 Aliases: CLN5 neuronal ceroid lipofuscinosis 5 variable age of onset	Cln5	211286	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0081301	intellectual developmental disorder with ocular anomalies and distinctive facial features Aliases: IDDOF MTSS2-related neurodevelopmental disorder	Mtss1 Mtss2	211401 244654	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0081179	autosomal recessive intellectual developmental disorder 3	Cc2d1a	212139	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070004	myeloid neoplasm	CBL CD36 F3 FGFR1 GPX1 MECOM	2122 2152 2260 2876 867 948	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112243	congenital symmetric circumferential skin creases 2 Aliases: CSCSC2	Mapre2	212307	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0081229	autosomal recessive intellectual developmental disorder 68	Trmt1	212528	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:8499	night blindness Aliases: nyctalopia	Nyx Rho	212541 236690	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110372	retinitis pigmentosa 4 Aliases: RP4	Opn4 Rho	212541 30044	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110862	congenital stationary night blindness autosomal dominant 1 Aliases: CSNBAD1 rhodopsin-related congenital stationary night blindness	Rho	212541	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080737	Ehlers-Danlos syndrome musculocontractural type 2	Dse	212898	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:8924	autoimmune thrombocytopenic purpura Aliases: Immune thrombocytopenic purpura idiopathic thrombocytopenic purpura primary thrombocytopenic purpura	ALB CD40 CD40LG CD86 FAS FCGR2A FCGR2B FCGR3A HLA-DQB1 HLA-DRB1 IL10 IL1A IL1RN IL2 IL4 ITGB3 PLAT TGFB1	213 2212 2213 2214 3119 3123 355 3552 3557 3558 3565 3586 3690 5327 7040 942 958 959	Homo sapiens (human)	Alliance of Genome Resources

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