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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	January 28, 2025
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **4251 - 4275** of **5716** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▼	Organism	Source
DOID:9870	galactosemia Aliases: Galactosaemia Galactose intolerance	gale-1	173171	Caenorhabditis elegans	Alliance of Genome Resources
DOID:9970	obesity	eif-6 glp-1 gon-1	173169 176286 177850	Caenorhabditis elegans	Alliance of Genome Resources
DOID:9884	muscular dystrophy	lam-3	172952	Caenorhabditis elegans	Alliance of Genome Resources
DOID:11714	gestational diabetes Aliases: GDM Gestational diabetes mellitus Maternal gestational diabetes mellitus	Met	17295	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050476	Barth syndrome Aliases: 3-methylglutaconicaciduria type 2 3-methylglutaconicaciduria type II MGA Type 2 MGA type II	Mest	17294	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110541	autosomal dominant nonsyndromic deafness 1 Aliases: DFNA1 Konigsmark syndrome LFHL1 autosomal dominant deafness 1 autosomal dominant deafness 1, with or without thrombocytopenia hereditary low frequency hearing loss 1	DIAPH1	1729	Homo sapiens (human)	Alliance of Genome Resources
DOID:1059	intellectual disability	mef-2	172732	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0060041	autism spectrum disorder	mef-2 nlg-1	172732 181484	Caenorhabditis elegans	Alliance of Genome Resources
DOID:10783	methemoglobinemia	CYB5R3	1727	Homo sapiens (human)	Alliance of Genome Resources
DOID:1206	Rett syndrome Aliases: Rett's disorder cerebroatrophic hyperammonemia	Mecp2	17257	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:10871	age related macular degeneration Aliases: Age Related Maculopathies Age Related Maculopathy Senile macular degeneration Senile macular retinal degeneration age-related macular degeneration	Ccl2 Cd46 Ppargc1a	17221 19017 20296	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:3635	congenital myasthenic syndrome	unc-63	172150	Caenorhabditis elegans	Alliance of Genome Resources
DOID:1574	alcohol use disorder Aliases: Ethanol abuse alcohol abuse	dop-4 egl-3 unc-47 unc-63	172150 176431 179412 183715	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0060212	amyotrophic lateral sclerosis type 21 Aliases: ALS21	Matr3	17184	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070299	multiple epiphyseal dysplasia 5 Aliases: BHMED EDM5 bilateral hereditary microepiphyseal dysplasia multiple epiphyseal dysplasia MATN3-related	Matn3	17182	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:14692	Smith-Lemli-Opitz syndrome Aliases: Rutledge lethal multiple congenital anomaly syndrome Smith-Opitz-Inborn syndrome	DHCR7	1717	Homo sapiens (human)	Alliance of Genome Resources
DOID:9281	phenylketonuria Aliases: Folling's disease PKU maternal phenylketonuria phenylalaninemia	bli-3	171608	Caenorhabditis elegans	Alliance of Genome Resources
DOID:3413	alpha-mannosidosis Aliases: Alpha-D-mannosidosis alpha-mannosidase deficiency deficiency of alpha-mannosidase	Man2b1	17159	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:1338	congenital dyserythropoietic anemia Aliases: congenital dyshaematopoietic anaemia	Man2a1	17158	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070459	hereditary spastic paraplegia 90A Aliases: SPG90A autosomal dominant spastic paraplegia 90A	SPTSSA	171546	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070460	hereditary spastic paraplegia 90B Aliases: SPG90B autosomal recessive spastic paraplegia 90B	SPTSSA	171546	Homo sapiens (human)	Alliance of Genome Resources
DOID:9352	type 2 diabetes mellitus Aliases: NIDDM insulin resistance non-insulin-dependent diabetes mellitus type 2 diabetes type II diabetes mellitus	Akt1 Aoc3 Cckar Crtc2 Ednrb F7 G6pc1 Gck Gipr Hmgcr Irs1 Lep Lepr Lnpep Pck1 Pcsk1 Ppargc1a Prkaa1 Serpine1 Tnf Ucp2	171105 24185 24385 24536 24617 24835 24889 25024 25204 25467 25608 25634 25675 260320 29473 310615 362282 50672 54315 65248 83516	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0060041	autism spectrum disorder	Creb1 Nlgn3 Nrxn1 Shank2	171093 171297 60391 81646	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:4797	SM-AHNMD Aliases: systemic mastocytosis with associated clonal haematological non-mast cell lineage disease systemic mastocytosis with associated clonal, hematologic non-mast-cell lineage disease	ASXL1	171023	Homo sapiens (human)	Alliance of Genome Resources
DOID:4971	myelofibrosis Aliases: Agnogenic myeloid metaplasia Aleukemic myelosis Megakaryocytic myelosclerosis bone Marrow Fibrosis myelosclerosis primary myelofibrosis	ASXL1 CALR EZH2 HFE KMT2A MPL	171023 2146 3077 4297 4352 811	Homo sapiens (human)	Alliance of Genome Resources

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