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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 **9251 - 9275** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▲	Organism	Source
DOID:2451	protein S deficiency Aliases: Protein S deficiency disease	Tfpi	29436	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:2216	factor V deficiency Aliases: Hereditary hypoproaccelerinaemia Labile factor deficiency Proaccelerin deficiency deficiency, labile	Tfpi	29436	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0110927	nemaline myopathy 3 Aliases: NEM3 congenital myopathy 2A nemaline myopathy 3, autosomal dominant or recessive	Acta1	29437	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0081340	congenital myopathy 2C	Acta1	29437	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0081339	congenital myopathy 2B	Acta1	29437	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0070501	mitochondrial complex IV deficiency nuclear type 16 Aliases: MC4DN16	Cox4i1	29445	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:11801	protein-energy malnutrition	Cox4i1	29445	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0050451	Brugada syndrome Aliases: Bangungut Brugada type idiopathic ventricular fibrillation Dream disease Pokkuri death syndrome SUNDS sudden unexplained nocturnal death syndrome	GSTM2	2946	Homo sapiens (human)	Alliance of Genome Resources
DOID:3323	Sandhoff disease Aliases: Sandhoff Jatzkewitz disease	Hexb	294673	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0080442	developmental and epileptic encephalopathy 41 Aliases: DEE41 early infantile epileptic encephalopathy 41	Slc1a2	29482	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:9266	cystinuria	Slc3a1	29484	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0111666	proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome Aliases: EPV Fowler syndrome Fowler vasculopathy PVHH cerebral proliferative glomeruloid vasculopathy encephaloclastic proliferative vasculopathy hydranencephaly, Fowler type hydrocephaly/hydranencephaly due to cerebral vasculopathy proliferative vasculopathy and hydranencephaly/hydrocephaly	Slc7a2 Slc7a3	29485 64554	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0070043	autosomal dominant intellectual developmental disorder 13 Aliases: MRD13 autosomal dominant mental retardation 13 autosomal dominant non-syndromic intellectual disability 13 mental retardation, autosomal dominant 13, with neuronal migration defects	Dync1h1	29489	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0110175	Charcot-Marie-Tooth disease axonal type 2O Aliases: Charcot-Marie-Tooth neuropathy axonal type 2O autosomal dominant Charcot-Marie-Tooth disease type 2O autosomal dominant axonal Charcot-Marie-Tooth disease type 2O	Dync1h1	29489	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0070351	spinal muscular atrophy with lower extremity predominant 1 Aliases: spinal muscular atrophy with lower extremity predominance 1	Dync1h1	29489	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:2876	laryngeal squamous cell carcinoma Aliases: Epidermoid carcinoma of the Larynx squamous cell carcinoma of larynx	Erbb3 Erbb4 Mmp2	29496 59323 81686	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:10376	amblyopia Aliases: lazy eye	Erbb3 Erbb4 Ppargc1a	29496 59323 83516	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:571	median neuropathy	Erbb3 Erbb4	29496 59323	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0080679	neuronal intestinal dysplasia type A	Erbb3	29496	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0060560	lethal congenital contracture syndrome 2 Aliases: LCCS2 multiple contracture syndrome, Israeli-Bedouin type	Erbb3	29496	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:4621	holoprosencephaly Aliases: Holoprosencephaly sequence	Pgap1 Shh	29499 316400	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0110875	holoprosencephaly 3 Aliases: HLP3 HPE3	Shh	29499	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0111564	hypoplastic or aplastic tibia with polydactyly Aliases: Werner mesomelic syndrome absence of tibia with polydactyly absent tibia-polydactyly syndrome hypoplastic tibiae-postaxial polydactyly syndrome tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome	Shh	29499	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0111818	syndactyly type 4 Aliases: Haas type syndactyly SDTY4 polysyndactyly, Haas type	Shh	29499	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0111380	solitary median maxillary central incisor Aliases: SMMCI fused incisors single central maxillary incisor single median maxillary central incisor single upper central incisor	Shh	29499	Rattus norvegicus (Norway rat)	Alliance of Genome Resources

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