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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 **12051 - 12075** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▲	Organism	Source
DOID:2044	drug-induced hepatitis Aliases: Drug-induced chronic hepatitis	Hmgcr	42803	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:10787	premature menopause Aliases: Menopause - premature Menopause praecox	Hmgcr	42803	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:893	Wilson disease Aliases: Cerebral pseudosclerosis Westphal pseudosclerosis Westphal-Strumpell syndrome Wilson's disease hepatolenticular degeneration	Hmgcr	42803	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0080697	Opitz GBBB syndrome Aliases: Opitz G/BBB Syndrome Opitz GBBB syndrome type I	MID1	4281	Homo sapiens (human)	Alliance of Genome Resources
DOID:3612	retinitis	MIF	4282	Homo sapiens (human)	Alliance of Genome Resources
DOID:8283	peritonitis Aliases: Retractile mesenteritis acute generalized peritonitis primary bacterial peritonitis sclerosing mesenteritis	Ald1 Atg6	42850 43183	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:607	paraplegia Aliases: Paraplegia, lower	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
DOID:646	viral encephalitis Aliases: epidemic encephalitis	Atg6	42850	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:4928	intrahepatic cholangiocarcinoma Aliases: Intrahepatic bile duct carcinoma peripheral Cholangiocarcinoma	Atg6	42850	Drosophila melanogaster (fruit fly)	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: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:0110948	Waardenburg syndrome type 1 Aliases: WS1 Waardenburg syndrome type I	MITF	4286	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: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:5031	adult pineal parenchymal tumor Aliases: adult Pineal Parenchymal neoplasm	MKI67	4288	Homo sapiens (human)	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:0111541	pigmented paravenous chorioretinal atrophy Aliases: PPRCA	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:0110358	retinitis pigmentosa 12 Aliases: RP12	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: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

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