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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 **13251 - 13275** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▼	Organism	Source
DOID:0110220	Brugada syndrome 3 Aliases: BRGDA3	Cacna1c	12288	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110649	long QT syndrome 8 Aliases: LQT8	Cacna1c	12288	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070536	neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures Aliases: NEDHLSS	Cacna1c	12288	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060173	Timothy syndrome	Cacna1c Cacna1d Cacna1f Cacna1s	12288 12289 12292 54652	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:11723	Duchenne muscular dystrophy Aliases: Muscular dystrophy, Duchenne	Cacna1c Cacna1d Cacna1f Cacna1s Ctss Dag1 Dmd Dtnb Eml1 Itga7 Kcnma1 Pla2g6 Sntb2	12288 12289 12292 13040 13138 13405 13528 16404 16531 20650 53357 54652 68519	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050956	spinocerebellar ataxia type 6	Cacna1a	12286	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050835	generalized dystonia Aliases: familial dystonia fragments of torsion dystonia	Cacna1a	12286	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070309	absence epilepsy	Cacna1a	12286	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050990	episodic ataxia type 2	Cacna1a	12286	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080454	developmental and epileptic encephalopathy 42 Aliases: DEE42 early infantile epileptic encephalopathy 42	Cacna1a	12286	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050704	childhood electroclinical syndrome	Cacna1a	12286	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050753	cerebellar ataxia	Aars1 Cacna1a Gemin5 Pnpla6 Syne1 Vps13a Vps13c	12286 216766 234734 271564 320528 50767 64009	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:10024	migraine with aura Aliases: classic migraine	Atp1a2 Cacna1a Dbh Drd2	12286 13166 13489 98660	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:1825	childhood absence epilepsy Aliases: petit mal seizure pyknolepsy	Cacna1a Cacng2 Cacng3 Gabrb3 Gabrg2 Glud1 Grik1 Hcn1 Htr7 Lgi4 Mmp9 Npy1r Npy2r Npy5r Slc2a1 Ywhaz	12286 12300 14402 14406 14661 14805 15165 15566 17395 18166 18167 18168 20525 22631 243914 54376	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111181	familial hemiplegic migraine 1 Aliases: FHM1 MHP1 familial hemiplegic migraine1 with progressive cerebellar ataxia	Cacna1a Cacna1b	12286 12287	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050951	hereditary ataxia	Cacna1a Cacna1b Pitrm1	12286 12287 69617	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050214	Lambert-Eaton myasthenic syndrome Aliases: Eaton-Lambert syndrome LEMS Lambert-Eaton syndrome	Cacna1a Cacna1b Chrm1	12286 12287 12669	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:0111974	immunodeficiency 59 Aliases: IMD59 granulocytopenia with immunoglobin abnormality immunodeficiency 59 and hypoglycemia	Hyou1	12282	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110027	age related macular degeneration 15 Aliases: ARMD15	C9	12279	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060303	complement component 9 deficiency	C9	12279	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060298	complement component 4b deficiency	C4b	12268	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060297	complement component 4a deficiency	C4b	12268	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:12306	vitiligo	C4b Comt Ctla4 Esr1 Foxd3 H2-Aa H2-Ab1 H2-Eb1 Hgf Hspa1a Ifng Il13 Il17a Il1a Il2 Il4 Mbl2 Myg1 Ncstn Sod2 Tgfb1 Tlr2 Tlr4 Tnf Tyr	12268 12477 12846 13982 14960 14961 14969 15221 15234 15978 16163 16171 16175 16183 16189 17195 193740 20656 21803 21898 21926 22173 24088 59287 60315	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:5162	arteriolosclerosis	C3	12266	Mus musculus (house mouse)	Alliance of Genome Resources

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