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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 **3951 - 3975** of **15957** in total

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Disease ID	Disease Name	Gene Symbol ▲	Gene ID	Organism	Source
DOID:0080887	vitamin D-dependent rickets type 1B	CYP2R1	120227	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110808	hereditary spastic paraplegia 56 Aliases: SPG56 autosomal recessive spastic paraplegia 56 autosomal recessive spastic paraplegia type 56	CYP2U1	113612	Homo sapiens (human)	Alliance of Genome Resources
DOID:5773	oral submucous fibrosis Aliases: Oral cavity Submucous Fibrosis Oral submucosal fibrosis Oral submucosal fibrosis, including of tongue	CYP3A5 TGFB1 TP53	1577 7040 7157	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110810	hereditary spastic paraplegia 5A Aliases: SPG5A autosomal recessive spastic paraplegia 5A autosomal recessive spastic paraplegia type 5A	CYP7B1	9420	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111070	congenital bile acid synthesis defect 3 Aliases: CBAS3 oxysterol 7-alpha-hydroxylase deficiency	CYP7B1	9420	Homo sapiens (human)	Alliance of Genome Resources
DOID:11723	Duchenne muscular dystrophy Aliases: Muscular dystrophy, Duchenne	Ca-alpha1D Dg mew	32275 34950 36773	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:11446	sciatic neuropathy	Ca-alpha1D Fur2 Nmdar1 Shaw Sod3 Tl htl para sgg tor	31248 32604 32619 33599 34950 35717 36232 40665 42160 43222	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:14452	hypokalemic periodic paralysis Aliases: Hypokalemic familial periodic paralysis Periodic paralysis I Westphal disease familial hypokalemic periodic paralysis periodic hypokalemic paralysis	Ca-alpha1D para	32619 34950	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0110871	congenital stationary night blindness 2A Aliases: congenital stationary night blindness 2A X-linked	Ca-alpha1D	34950	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0050534	congenital stationary night blindness Aliases: congenital essential nyctalopia	Ca-alpha1D	34950	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0110220	Brugada syndrome 3 Aliases: BRGDA3	Ca-alpha1D	34950	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:8545	malignant hyperthermia Aliases: anesthesia related hyperthermia malignant hyperpyrexia due to anesthesia	Ca-alpha1D	34950	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0060173	Timothy syndrome	Ca-alpha1D	34950	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0070536	neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures Aliases: NEDHLSS	Ca-alpha1D	34950	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0110649	long QT syndrome 8 Aliases: LQT8	Ca-alpha1D	34950	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0111007	X-linked cone-rod dystrophy 3 Aliases: CORDX3	Ca-alpha1D	34950	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0050630	Aland Island eye disease Aliases: FORSIUS-ERIKSSON TYPE OCULAR ALBINISM Forsius-Eriksson syndrome	Ca-alpha1D	34950	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0081350	congenital myopathy 18	Ca-alpha1D	34950	Drosophila melanogaster (fruit fly)	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: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:0050951	hereditary ataxia	Cacna1a Cacna1b Pitrm1	12286 12287 69617	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: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:0070309	absence epilepsy	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

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