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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 **2251 - 2275** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source
DOID:0110299	autosomal recessive limb-girdle muscular dystrophy type 2I Aliases: LGMD2I Limb-girdle muscular dystrophy due to FKRP deficiency MDDGC5 muscular dystrophy limb-girdle type 2I muscular dystrophy-dystroglycanopathy (limb-girdle) type C 5 muscular dystrophy-dystroglycanopathy limb-girdle FRKP-related	CG15651	37375	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0050730	coenzyme Q10 deficiency disease Aliases: COENZYME Q10 DEFICIENCY, PRIMARY	Coq2 Coq9	67914 71883	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0090082	hypogonadotropic hypogonadism 20 with or without anosmia	Fgf17	29368	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0090125	brain small vessel disease 1 Aliases: BSVD1 COL4A1-related brain small vessel disease with hemorrhage COL4A1-related familial vascular leukoencephalopathy COL4A1-related retinal arteriolar tortuosity-infantile hemiparesis-autosomal dominant leukoencephalopathy syndrome autosomal dominant retinal arteriolar tortuosity, infantile hemiparesis, and leukencephalopathy brain small vessel disease with Axenfeld-Riegar anomaly brain small vessel disease with hemorrhage brain small vessel disease with or without ocular anomalies infantile hemiparesis leukoencephalopathy with Axenfeld-Riegar anomaly	Col4a1 vkg	33726 33727	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0111526	Mullerian aplasia and hyperandrogenism Aliases: Mullerian duct failure and hyperandrogenism WNT4 deficiency	wnt4	30123	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:0080871	primary ovarian insufficiency 14	Gdf9	14566	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:14453	farmer's lung Aliases: Farmers lung farmer lung	Tnf	24835	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0112202	developmental and epileptic encephalopathy	IML1 VPS1	853603 853870	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0110284	autosomal recessive limb-girdle muscular dystrophy type 2L Aliases: LGMD2L muscular dystrophy, limb-girdle, type 2L	fktn.S	495324	Xenopus laevis (African clawed frog)	Alliance of Genome Resources
DOID:0070273	hereditary nonpolyposis colorectal cancer type 6 Aliases: HNPCC6	Tgfbr2	81810	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0080042	autosomal recessive spinocerebellar ataxia 18 Aliases: SCAR18	Grid2	14804	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:1936	atherosclerosis	pon2	448598	Xenopus tropicalis (tropical clawed frog)	Alliance of Genome Resources
DOID:10690	mastitis Aliases: Inflammatory breast disease Inflammatory disease of breast breast inflammation	Tl chp	43222 43690	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:14550	root resorption	Tnf Tnfrsf1a	21926 21937	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060342	acromelic frontonasal dysostosis	ZSWIM6	57688	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080428	developmental and epileptic encephalopathy 45 Aliases: DEE45 early infantile epileptic encephalopathy 45	GABRB1	2560	Homo sapiens (human)	Alliance of Genome Resources
DOID:3312	bipolar disorder Aliases: Manic Bipolar Affective disorder Manic Depressive disorder Manic bipolar I disorder bipolar depression bipolar disorder manic phase manic depression manic disorder mixed bipolar disorder	Atpalpha Egfr Fas2 Grd Msp300 Nrg SerT enok kdn mAChR-A nAChRalpha1 nAChRbeta1 nAChRbeta2 per sgg vn	31248 31251 31364 31579 31792 37455 3771968 37859 37892 37895 38545 38657 39984 42918 42920 48971	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0111872	nonphotosensitive trichothiodystrophy 6 Aliases: TTD6	GTF2E2	2961	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070197	distal myopathy 1 Aliases: Distal myopathy type 1 Gowers disease Laing distal myopathy Laing early-onset distal myopathy MPD1	MYH7	4625	Homo sapiens (human)	Alliance of Genome Resources
DOID:11206	opioid abuse	Ankk1 Drd4 Grin1 Grin2a Grin2b Ncam1 Nr3c1 Oprd1 Oprk1 Oprm1	13491 14810 14811 14812 14815 17967 18386 18387 18390 244859	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050974	spinocerebellar ataxia type 25	Pnpt1	71701	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110297	autosomal recessive limb-girdle muscular dystrophy type 2K Aliases: LGMD2K MDDGC1 limb-girdle muscular dystrophy-intellectual disability syndrome muscular dystrophy limb-girdle type 2K muscular dystrophy-dystroglycanopathy (limb-girdle) type C 1	Pomt1	99011	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070400	hypomyelinating leukodystrophy 19 Aliases: HLD19	Tmem63a	208795	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111738	X-linked deafness 7 Aliases: DFNX7 X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome	Gprasp2	245607	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0081007	RNASET2-deficient cystic leukoencephalopathy Aliases: cystic leukoencephalopathy without megalencephaly infantile-onset RNASET2 deficient cystic leukoencephalopathy	rnaset2	791890	Danio rerio (zebrafish)	Alliance of Genome Resources

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