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GlyCosmos Diseases

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

Source	Last Updated
Alliance of Genome Resources	July 29, 2024
DisGeNET	July 29, 2024
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **4276 - 4300** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▲	Organism	Source
DOID:0060563	Char syndrome	Tfap2b	21419	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:13550	angle-closure glaucoma Aliases: ACG - Angle-closure glaucoma Angle Closure Glaucoma Closed angle glaucoma Narrow cleft glaucoma primary open-angle glaucoma with narrow angles	Tfap2b	21419	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080678	mucolipidosis III gamma	Gnptg	214505	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0112382	muscular dystrophy-dystroglycanopathy type C8 Aliases: LGMDR24 MDDGC2 autosomal recessive limb-girdle muscular dystrophy 24 muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 8 muscular dystrophy-dystroglycanopathy, limb-girdle, POMGNT2-related	Pomgnt2	215494	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111231	congenital muscular dystrophy-dystroglycanopathy type A8 Aliases: MDDGA8 Walker-Warburg syndrome or muscle-eye-brain disease GTDC2-related congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A8	Pomgnt2	215494	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111239	congenital muscular dystrophy-dystroglycanopathy type A10 Aliases: MDDGA10 Walker-Warburg syndrome or muscle-eye-brain disease, TMEM5-related congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A10	Rxylt1	216395	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0112218	developmental and epileptic encephalopathy 83 Aliases: DEE83 early infantile epileptic encephalopathy 83	Ugp2	216558	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070311	oligoasthenoteratozoospermia Aliases: OAT oligoasthenoteratospermia	Spata20	217116	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0112313	brain small vessel disease	Nr1d1	217166	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070253	congenital disorder of glycosylation type IIa Aliases: Alkuraya syndrome CDG IIa CDG2A CDGIIa CDGS2 carbohydrate-deficient glycoprotein syndrome, type II congenital disorder of glycosylation, type IIa mental retardation, growth retardation, prominent columella, and open mouth	Mgat2	217664	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110274	autosomal recessive limb-girdle muscular dystrophy	Poglut1 Pomt2	217734 224143	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050453	lissencephaly	Pomgnt1 Pomt1 Pomt2	217734 68273 99011	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0112374	muscular dystrophy-dystroglycanopathy Aliases: MDDG	Pomt1 Pomt2	217734 99011	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0112380	muscular dystrophy-dystroglycanopathy type B2 Aliases: MDDGB2 congenital muscular dystrophy POMT2-related	Pomt2	217734	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110298	autosomal recessive limb-girdle muscular dystrophy type 2N Aliases: LGMD2N muscular dystrophy-dystroglycanopathy (limb-girdle) type C 2 muscular dystrophy-dystroglycanopathy limb-girdle POMT2-related	Pomt2	217734	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111240	congenital muscular dystrophy-dystroglycanopathy type A2 Aliases: MDDGA2 Walker-Warburg syndrome or muscle-eye-brain disease, POMT2-related congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A2	Pomt2	217734	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:452	pleomorphic adenoma Aliases: mixed tumor of the Salivary gland	ALDH3A1 B3GAT1 CD44 FASN HPGDS HPRT1 NANS PIK3CA PTEN PTGS2 STS TM7SF2 XYLT1 XYLT2	218 2194 27087 27306 3251 412 5290 54187 5728 5743 64131 64132 7108 960	Homo sapiens (human)	DisGeNET DisGeNET
DOID:0112050	non-syndromic X-linked intellectual disability 63 Aliases: ACSL4-related intellectual disability MRX63 MRX68 X-linked mental retardation 63 X-linked mental retardation 68	ACSL3 ACSL4	2181 2182	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080738	Ehlers-Danlos syndrome spondylodysplastic type 1	B4galt7	218271	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:8677	perinatal necrotizing enterocolitis Aliases: ENTEROCOLITIS NECROTIZING Necrotizing enterocolitis in fetus OR newborn Perinatal necrotising enterocolitis Pseudomembranous enterocolitis in newborn necrotizing enterocolitis	Tlr1 Tlr2 Tlr4 Tlr6 Tnf	21897 21898 21899 21926 24088	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:854	collagen disease Aliases: collagen disorder	Tlr1 Tlr2 Tlr4 Tlr6	21897 21898 21899 24088	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:399	tuberculosis	Tlr1 Tlr2 Tlr6 Tnf	21897 21899 21926 24088	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:13564	aspergillosis Aliases: Infection due to Aspergillus	Tlr1 Tlr6	21897 21899	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:1024	leprosy	Tlr1 Tlr2 Tnf	21897 21926 24088	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:5614	eye disease	Tlr2 Tlr4 Tnf	21898 21926 24088	Mus musculus (house mouse)	Alliance of Genome Resources

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