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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 **7376 - 7400** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼	Source
DOID:0080051	acromesomelic dysplasia, Hunter-Thompson type Aliases: acromesomelic dwarfism acromesomelic dysplasia-2C	Gdf5	14563	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:6364	migraine Aliases: migraine disorder migraine variant migraine with or without aura	Cacna1a Cacna1b Calca Cd40lg Ednra Esr1 Fos Htr7 Kcnk18 Nos3 Phactr1 Tnf Trpv1	12286 12287 12310 13617 13982 14281 15566 18127 193034 218194 21926 21947 332396	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:5688	Werner syndrome Aliases: WS Werner's syndrome adult premature ageing syndrome adult progeria	Lmna Wrn	16905 22427	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111272	occipital horn syndrome Aliases: EDS IX Ehlers-Danlos syndrome type 9 Ehlers-Danlos syndrome type IX X-linked cutis laxa	Atp7a	11977	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:3454	brain infarction	Adipoq Adnp Aldh2 Atp2b2 Cacna2d1 Calcrl Cd8a Cfh Cfhr4 Ctsb Gpnmb Gzmb H2-Aa Hgf Hmgb1 Hnmt Htr2b Icam1 Igf2 Il15 Il2 Kcnk6 Mmp8 Mmp9 Pdgfb Prcp Rbfox3 Scn7a Tnf Tpcn2	11450 11538 11669 11941 12293 12525 12628 13030 140483 14939 14960 15234 15289 15559 15894 16002 16168 16183 17394 17395 18591 20272 214403 21926 233979 52150 52897 54598 72461 93695	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060791	hypomyelinating leukodystrophy 9 Aliases: HLD9 RARS-related autosomal recessive hypomyelinating leukodystrophy	Rars1	104458	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:9252	amino acid metabolic disorder Aliases: inborn errors of amino acid metabolism	Aldh18a1 Asl Bcat2 Cth Glul Gpt Hibadh Hmgcl Pccb Shmt1 Shmt2 Tars1	107869 108037 109900 110960 12036 14645 15356 20425 56454 58875 66904 76282	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070042	Coffin-Siris syndrome 1 Aliases: CSS1 MRD12 autosomal dominant mental retardation 12 fifth digit syndrome	Arid1a	93760	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050567	orofacial cleft	Crispld2 Loxhd1 Myh9 Specc1l	17886 240411 74392 78892	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080694	Galloway-Mowat syndrome	Nup107 Nup133 Wdr4	103468 234865 57773	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070338	cerebellar hypoplasia	Nav1	215690	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080472	developmental and epileptic encephalopathy 91 Aliases: infantile or early childhood epileptic encephalopathy 1	Ppp3ca	19055	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110677	congenital myasthenic syndrome 4B Aliases: CMS4B congenital myasthenic syndrome 4B fast-channel	Chrne	11448	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:3275	thymoma	Aqp4	11829	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:643	progressive multifocal leukoencephalopathy	Nefl	18039	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:3744	cervical squamous cell carcinoma Aliases: squamous cell carcinoma of cervix squamous cell carcinoma of the Cervix Uteri	Adar Bax Ccr4 Cd82 Csf1r Fgf7 Fos Foxp3 Pdpn Tnfrsf4 Tnfsf4 Trp53 Tymp	12028 12521 12773 12978 14178 14281 14726 20371 22059 22163 22164 56417 72962	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060409	NFIA-related disorder Aliases: 1p31p32 microdeletion syndrome Chromosome 1, Monosomy 1p32 brain malformations with or without urinary tract defects chromosome 1p32-p31 deletion syndrome	Nfia	18027	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080325	tuberous sclerosis 2	Ifng	15978	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:484	vascular hemostatic disease	Fga	14161	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080461	developmental and epileptic encephalopathy 26 Aliases: DEE26 early infantile epileptic encephalopathy 26	Kcnb1	16500	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060681	autosomal dominant nocturnal frontal lobe epilepsy Aliases: ENFL	Chrnb2	11444	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050331	lacrimoauriculodentodigital syndrome 1 Aliases: LEVY-HOLLISTER SYNDROME Lacrimo-auriculo-dento-digital syndrome 1	Fgf10 Fgfr2	14165 14183	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080552	congenital disorder of glycosylation Ia Aliases: PMM2-congenital disorder of glycosylation congenital disorder of glycosylation 1a	Igf2 Igfals Igfbp3 Pmm1 Pmm2	16002 16005 16009 29858 54128	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111315	idiopathic generalized epilepsy 14 Aliases: EIG14	Slc12a5	57138	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:3410	carotid artery thrombosis	F3 Thbd	14066 21824	Mus musculus (house mouse)	Alliance of Genome Resources

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