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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 **11301 - 11325** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲	Source
DOID:0110657	congenital myasthenic syndrome 8 Aliases: CMS8 congenital myasthenic syndrome 8 with pre- and postsynaptic defects congenital myasthenic syndrome due to agrin deficiency	Agrn	11603	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111789	Frank-Ter Haar syndrome Aliases: Borrone dermatocardioskeletal syndrome FTHS Ter Haar syndrome autosomal recessive Melnick-Needles syndrome megalocornea, multiple skeletal anomalies, and developmental delay	Sh3pxd2b	268396	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070516	Mitchell syndrome	Acox2	93732	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0090107	autosomal dominant hypocalcemia 1 Aliases: HYPOC1	Casr	12374	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:1388	Tangier disease Aliases: familial alpha-lipoprotein deficiency familial high density lipoprotein deficiency	Abca1	11303	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:10533	viral pneumonia	Ccl11 Tlr9	20292 81897	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110087	asphyxiating thoracic dystrophy 3 Aliases: ATD3 SRPS1 SRPS2B SRPS3 SRTD3 Saldino-Noonan syndrome Verma-Naumoff syndrome polydactyly with neonatal chondrodystrophy, type I polydactyly with neonatal chondrodystrophy, type III short rib-polydactyly syndrome, type I short rib-polydactyly syndrome, type IIB short-rib thoracic dysplasia 3 with or without polydactyly	Dync2h1	110350	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0112230	lissencephaly 5 Aliases: LIS5	Lamb1	16777	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0112147	retinitis pigmentosa 90 Aliases: RP90	Idh3a	67834	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:12803	Sly syndrome Aliases: MPS VII - Sly syndrome beta-glucuronidase deficiency deficiency of beta-glucuronidase mucopolysaccharidosis VII	Gusb	110006	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080558	congenital disorder of glycosylation If Aliases: congenital disorder of glycosylation 1f	Mpdu1	24070	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:14701	propionic acidemia Aliases: GLYCINEMIA, KETOTIC KETOTIC HYPERGLYCINEMIA ketotic II glycinemia ketotic glycinemia propionic aciduria propionyl-CoA carboxylase deficiency	Pccb	66904	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:10140	dry eye syndrome Aliases: Tear film insufficiency dry eye disease	Aqp5 Ccr5 Il10 Il1rn Muc1 Muc5ac Pltp Sod1 Tlr2 Tlr4	11830 12774 16153 16181 17829 17833 18830 20655 21898 24088	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060882	renal hypomagnesemia 4 Aliases: HOMG4	Egf	13645	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110025	age related macular degeneration 13 Aliases: ARMD13	Cfi	12630	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111554	spondylometaphyseal dysplasia Kozlowski type Aliases: Jequier Kozlowski skeletal dysplasia Jequier-Kozlowski syndrome SMD Kozlowski type dysmorphism arthrogryposis skeletal maturation advanced skeletal dysplasia Jequier-Kozlowski type	Trpv4	63873	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060768	Smith-Magenis syndrome Aliases: 17p11.2 microdeletion syndrome chromosome 17p11.2 deletion syndrome	Mfap4 Rai1	19377 76293	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:9286	priapism Aliases: Mentulagra	F13a1	74145	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110815	hereditary spastic paraplegia 64 Aliases: SPG64 autosomal recessive spastic paraplegia 64 autosomal recessive spastic paraplegia type 64	Entpd1	12495	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0112254	hepatic venoocclusive disease with immunodeficiency Aliases: VODI hepatic veno-occlusive disease-immunodeficiency syndrome	Sp110	109032	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060685	autosomal dominant nocturnal frontal lobe epilepsy 4 Aliases: ENFL4 nocturnal frontal lobe epilepsy 4	Chrna2	110902	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0090060	Wolcott-Rallison syndrome	Eif2ak3	13666	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080207	CAKUT2 Aliases: Congenital anomalies of the kidney and urinary tract 2	Bmp4 Mmp9 Timp1	12159 17395 21857	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050941	spastic ataxia 2	Kif1c	16562	Mus musculus (house mouse)	Alliance of Genome Resources

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