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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 **9226 - 9250** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▲	Organism	Source
DOID:0111932	severe congenital encephalopathy due to MECP2 mutation Aliases: neonatal severe encephalopathy due to MECP2 mutations severe neonatal-onset encephalopathy with microcephaly	Mecp2	29386	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0060799	syndromic X-linked intellectual disability Lubs type Aliases: Lubs X-linked mental retardation syndrome MECP2 duplication syndrome MRXSL X-linked intellectual disability-hypotonia-recurrent Infections syndrome mental retardation, X-linked, syndromic, Lubs type mental retardation, X-linked, with recurrent respiratory infections	Mecp2	29386	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:1206	Rett syndrome Aliases: Rett's disorder cerebroatrophic hyperammonemia	Mecp2	29386	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0060827	X-linked intellectual disability-psychosis-macroorchidism syndrome Aliases: Lindsay-Burn syndrome MRXS13 PPM-X X-linked mental retardation 79 X-linked mental retardation with spasticity mental retardation with psychosis, pyramidal signs, and macroorchidism mental retardation, X-linked, syndromic 13	Mecp2	29386	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:2491	sensory peripheral neuropathy Aliases: peripheral Sensory Neuropathy sensory neuropathy	Bace1	29392	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0110339	osteogenesis imperfecta type 3 Aliases: OI3 osteogenesis imperfecta type III progressively deforming osteogenesis imperfecta with normal sclera	Col1a1 Col1a2	29393 84352	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0110340	osteogenesis imperfecta type 4 Aliases: OI4 osteogenesis imperfecta type IV osteogenesis imperfecta with normal sclera	Col1a1 Col1a2	29393 84352	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0110341	osteogenesis imperfecta type 2 Aliases: OI2 Vrolik type of osteogenesis imperfecta osteogenesis imperfecta type II perinatal lethal osteogenesis imperfecta congenita	Col1a1 Col1a2	29393 84352	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:12347	osteogenesis imperfecta Aliases: Lobstein's syndrome Osteopsathyrosis Vrolik's disease brittle bone disease	Col1a1 Col1a2	29393 84352	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:4154	dentinogenesis imperfecta	Col1a1	29393	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0080727	Ehlers-Danlos syndrome arthrochalasia type 1	Col1a1	29393	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0110334	osteogenesis imperfecta type 1 Aliases: OI1 osteogenesis imperfecta type I	Col1a1	29393	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:4257	Caffey disease Aliases: cortical congenital hyperostosis infantile cortical hyperostosis	Col1a1	29393	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0080390	nephrotic syndrome type 1 Aliases: Finnish congenital nephrosis	Ccl11 Nphs1	29397 64563	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:10533	viral pneumonia	Ccl11	29397	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0060884	renal hypomagnesemia 6 Aliases: HOMG6	Cnnm2	294014	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0110820	hereditary spastic paraplegia 75 Aliases: SPG75 autosomal recessive spastic paraplegia 75 autosomal recessive spastic paraplegia type 75	Mag	29409	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:573	nerve compression syndrome Aliases: Compression neuropathy entrapment neuropathy peripheral nerve entrapment syndrome	Mag	29409	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0110731	neuronal ceroid lipofuscinosis 3 Aliases: Batten disease CLN3 juvenile neuronal ceroid lipofuscinosis	Clcn3 Ppt1	29411 84360	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0110721	neuronal ceroid lipofuscinosis 1 Aliases: CLN1 neuronal ceroid lipofuscinosis 1 variable age of onset	Ppt1	29411	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0110519	autosomal recessive nonsyndromic deafness 68 Aliases: DFNB68 autosomal recessive deafness 68	S1pr2	29415	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0110678	congenital myasthenic syndrome 4A Aliases: CMS Ia1 CMS1A1 CMS4A congenital myasthenic syndrome 4A slow-channel congenital myasthenic syndrometype Ia1	Chrne	29422	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0110677	congenital myasthenic syndrome 4B Aliases: CMS4B congenital myasthenic syndrome 4B fast-channel	Chrne	29422	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0110679	congenital myasthenic syndrome 4C Aliases: CMS Id CMS1D CMS4C FIM1 congenital myasthenic syndrome 4C associated with acetylcholine receptor deficiency congenital myasthenic syndrome type Id familial infantile myasthenia 1	Chrne	29422	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0080268	autosomal dominant nonsyndromic deafness 72	Slc44a4	294255	Rattus norvegicus (Norway rat)	Alliance of Genome Resources

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