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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 **8126 - 8150** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▼	Organism	Source
DOID:0070422	syndromic X-linked intellectual disability Pilorge type Aliases: MRXSP	Glra2	24397	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0080978	arthrogryposis multiplex congenita-1	Lgi4	243914	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070256	congenital disorder of glycosylation type IId Aliases: CDG IId CDG2D CDGIId	B4galt1	24390	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:5212	congenital disorder of glycosylation Aliases: carbohydrate-deficient glycoprotein syndrome	Alg1 Alg3 B4galt1	24390 287983 360475	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0110299	autosomal recessive limb-girdle muscular dystrophy type 2I Aliases: LGMD2I Limb-girdle muscular dystrophy due to FKRP deficiency MDDGC5 muscular dystrophy limb-girdle type 2I muscular dystrophy-dystroglycanopathy (limb-girdle) type C 5 muscular dystrophy-dystroglycanopathy limb-girdle FRKP-related	Fkrp	243853	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110635	muscular dystrophy-dystroglycanopathy type B5 Aliases: FKRP-related congenital muscular dystrophy MDC1C MDDGB5 congenital muscular dystrophy 1C muscular dystrophy-dystroglycanopathy (congenital with or without impaired intellectual development), type B, 5 muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5	Fkrp	243853	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111241	congenital muscular dystrophy-dystroglycanopathy type A5 Aliases: MDDGA5 Walker-Warburg syndrome or muscle-eye-brain disease, FKRP-related congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5	Fkrp	243853	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070216	familial hyperinsulinemic hypoglycemia 3 Aliases: HHF3 hyperinsulinemic hypoglycemia due to glucokinase deficiency hyperinsulinism due to glucokinase deficiency	Gck	24385	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0111100	maturity-onset diabetes of the young type 2 Aliases: MODY glucokinase-related MODY type 2 MODY2	Gck	24385	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:13317	hyperinsulinemic hypoglycemia Aliases: Islet cell hyperplasia nesidioblastosis persistent hyperinsulinemia hypoglycemia of infancy	Abcc8 Gck	24385 25559	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:4194	glucose metabolism disease Aliases: disorder of glucose metabolism	Gck Hk1 Hk2 Hk3 Igf1r Insrr Irs1 Rps6kb1 Tlr4	24385 25058 25059 25060 25467 25718 29260 60663 83840	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:11717	neonatal diabetes Aliases: diabetes mellitus syndrome in newborn infant neonatal diabetes mellitus	Gck Ins2	24385 24506	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0050524	maturity-onset diabetes of the young Aliases: MODY Mason-type diabetes	Gck Ins2 Pdx1 Tgm2	24385 24506 29535 56083	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0060639	permanent neonatal diabetes mellitus Aliases: PDMI PNDM permanent diabetes mellitus of infancy	Abcc8 Gck Ins1 Ins2 Kcnj11	24385 24505 24506 25559 83535	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0112370	Coffin-Siris syndrome 12 Aliases: CSS12	Bicra	243842	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050827	rheumatic heart disease Aliases: rheumatic carditis	Col1a1 Col3a1 Gapdh Inhba Mmp9	24383 29200 29393 81687 84032	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0060108	brain glioma Aliases: lower grade glioma	Fas Faslg Gapdh Kdr Vegfa	24383 246097 25385 25589 83785	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:3319	lymphangioleiomyomatosis Aliases: lung lymphangioleiomyomatosis lymphangiomyomatosis pulmonary lymphangioleiomyomatosis	Cpt1a Esr1 Gapdh Gls Mmp9 Nos3	24383 24398 24600 24890 25757 81687	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:11847	coronary thrombosis Aliases: Coronary artery thrombosis	Gp6	243816	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111057	platelet-type bleeding disorder 11 Aliases: BDPLT11 GP VI deficiency glycoprotein VI deficiency	Gp6	243816	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:2383	neonatal jaundice Aliases: neonatal hyperbilirubinemia neonatal icterus	G6pd	24377	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:13628	favism	G6pd	24377	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:9281	phenylketonuria Aliases: Folling's disease PKU maternal phenylketonuria phenylalaninemia	Duox2 G6pd	24377 79107	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:2861	congenital nonspherocytic hemolytic anemia Aliases: HNSHA congenital nonspherocytic hemolytic anaemia hereditary nonspherocytic hemolytic anaemia hereditary nonspherocytic hemolytic anemia	G6pd Gpi Hk1 Pklr	24377 24651 25058 292804	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:13413	hepatic encephalopathy Aliases: Portal-systemic encephalopathy	Ccl2 G6pd Gabra1 Gabrb1 Gabrg2 Glud1 Gria1 Nos1	24377 24399 24598 24770 25450 29705 29709 50592	Rattus norvegicus (Norway rat)	Alliance of Genome Resources

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