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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 **3876 - 3900** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▼	Organism	Source
DOID:0110681	congenital myasthenic syndrome 2A Aliases: CMS2A congenital myasthenic syndrome 2A slow-channel	nAChRalpha1 nAChRalpha2 nAChRbeta2	42918 42919 42920	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0110666	congenital myasthenic syndrome 3A Aliases: CMS3A congenital myasthenic syndrome 3A, slow-channel	nAChRalpha1 nAChRalpha2 nAChRbeta2	42918 42919 42920	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0110665	congenital myasthenic syndrome 3B Aliases: CMS3B congenital myasthenic syndrome 3B, fast-channel	nAChRalpha1 nAChRalpha2 nAChRbeta2	42918 42919 42920	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0110679	congenital myasthenic syndrome 4C Aliases: CMS Id CMS1D CMS4C FIM1 congenital myasthenic syndrome 4C associated with acetylcholine receptor deficiency congenital myasthenic syndrome type Id familial infantile myasthenia 1	nAChRalpha1 nAChRalpha2 nAChRbeta2	42918 42919 42920	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0110680	congenital myasthenic syndrome 2C Aliases: CMS2C congenital myasthenic syndrome 2C associated with acetylcholine receptor deficiency	nAChRalpha1 nAChRalpha2 nAChRbeta2	42918 42919 42920	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0110664	congenital myasthenic syndrome 3C Aliases: congenital myasthenic syndrome 3C associated with acetylcholine receptor deficiency	nAChRalpha1 nAChRalpha2 nAChRbeta2	42918 42919 42920	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0110678	congenital myasthenic syndrome 4A Aliases: CMS Ia1 CMS1A1 CMS4A congenital myasthenic syndrome 4A slow-channel congenital myasthenic syndrometype Ia1	nAChRalpha1 nAChRalpha2 nAChRbeta2	42918 42919 42920	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0110677	congenital myasthenic syndrome 4B Aliases: CMS4B congenital myasthenic syndrome 4B fast-channel	nAChRalpha1 nAChRalpha2 nAChRbeta2	42918 42919 42920	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0110358	retinitis pigmentosa 12 Aliases: RP12	crb	42896	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0110079	Leber congenital amaurosis 8 Aliases: LCA8	crb	42896	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:14791	Leber congenital amaurosis Aliases: LCA Leber's amaurosis Leber's congenital amaurosis Leber's disease	crb	42896	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0111541	pigmented paravenous chorioretinal atrophy Aliases: PPRCA	crb	42896	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:14365	systemic primary carnitine deficiency disease Aliases: carnitine transporter deficiency carnitine uptake defect deficiency of plasma-membrane carnitine transporter primary carnitine deficiency renal carnitine transport defect	Orct2 Orct	42890 42891	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:5031	adult pineal parenchymal tumor Aliases: adult Pineal Parenchymal neoplasm	MKI67	4288	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090002	Tietz syndrome Aliases: Tietz albinism-deafness syndrome albinism-deafness of Tietz hypopigmentation/deafness of Tietz	MITF	4286	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090100	ocular albinism with sensorineural deafness Aliases: WS2-OA autosomal recessive Waardenburg syndrome type 2 with ocular albinism digenic Waardenburg syndrome/albinism digenic Waardenburg syndrome/ocular albinism	MITF	4286	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110950	Waardenburg syndrome type 2A Aliases: WS2A Waardenburg syndrome type IIA	MITF	4286	Homo sapiens (human)	Alliance of Genome Resources
DOID:14021	Tietze's syndrome Aliases: Costalchondritis Costochondral junction syndrome Costochondritis Slipping rib syndrome Tietze's disease	MITF	4286	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110948	Waardenburg syndrome type 1 Aliases: WS1 Waardenburg syndrome type I	MITF	4286	Homo sapiens (human)	Alliance of Genome Resources
DOID:4997	Camurati-Engelmann disease Aliases: Diaphyseal dysplasia Engelman's disease progressive diaphyseal dysplasia	MITF TGFB1	4286 7040	Homo sapiens (human)	Alliance of Genome Resources
DOID:607	paraplegia Aliases: Paraplegia, lower	Atg6	42850	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:646	viral encephalitis Aliases: epidemic encephalitis	Atg6	42850	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:12010	anterior ischemic optic neuropathy Aliases: Ischemic optic neuropathy	Atg6	42850	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0080546	non-alcoholic fatty liver Aliases: NAFL nonalcoholic fatty liver	Atg6	42850	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:1440	Machado-Joseph disease Aliases: Azorean disease MJD SCA3 spinocerebellar ataxia 3 spinocerebellar ataxia type 3	Atg6	42850	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources

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