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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 **11951 - 11975** of **15957** in total

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Disease ID	Disease Name	Gene Symbol ▼	Gene ID	Organism	Source
DOID:0111007	X-linked cone-rod dystrophy 3 Aliases: CORDX3	Cacna1f	54652	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050534	congenital stationary night blindness Aliases: congenital essential nyctalopia	Cacna1f Gucy2e Nyx Trpm1	14919 17364 236690 54652	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111007	X-linked cone-rod dystrophy 3 Aliases: CORDX3	Cacna1f	114493	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0110871	congenital stationary night blindness 2A Aliases: congenital stationary night blindness 2A X-linked	Cacna1f	114493	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0050630	Aland Island eye disease Aliases: FORSIUS-ERIKSSON TYPE OCULAR ALBINISM Forsius-Eriksson syndrome	Cacna1f	114493	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0050534	congenital stationary night blindness Aliases: congenital essential nyctalopia	Cacna1f Gucy2d Trpm1	114493 361586 79222	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0110220	Brugada syndrome 3 Aliases: BRGDA3	Cacna1c	24239	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0070536	neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures Aliases: NEDHLSS	Cacna1c	24239	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0110649	long QT syndrome 8 Aliases: LQT8	Cacna1c	24239	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0060173	Timothy syndrome	Cacna1c Cacna1f Cacna1s	114493 24239 682930	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:11723	Duchenne muscular dystrophy Aliases: Muscular dystrophy, Duchenne	Cacna1c Cacna1f Cacna1s Ctss Itga7 Nos1 Nos1ap Slc6a5	114493 171148 192363 24239 24598 50654 682930 81008	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
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:0050951	hereditary ataxia	Cacna1a	25398	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0050990	episodic ataxia type 2	Cacna1a	25398	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0050835	generalized dystonia Aliases: familial dystonia fragments of torsion dystonia	Cacna1a	25398	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0050753	cerebellar ataxia	Cacna1a	25398	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0080454	developmental and epileptic encephalopathy 42 Aliases: DEE42 early infantile epileptic encephalopathy 42	Cacna1a	25398	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0050704	childhood electroclinical syndrome	Cacna1a	25398	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0050956	spinocerebellar ataxia type 6	Cacna1a	25398	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0070309	absence epilepsy	Cacna1a	25398	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0111181	familial hemiplegic migraine 1 Aliases: FHM1 MHP1 familial hemiplegic migraine1 with progressive cerebellar ataxia	Cacna1a	25398	Rattus norvegicus (Norway rat)	Alliance of Genome Resources

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