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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 **9576 - 9600** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source
DOID:0110430	dilated cardiomyopathy 1G Aliases: CMD1G	Ttn	22138	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:13406	pulmonary sarcoidosis Aliases: lung Sarcoidosis	Abo2 Abo3 Abo Bdnf C3 Ccr5 Cftr Chi3l1 Crp Cxcr3 Il15 Il1rn Lta Ngf Ntf3 Ntrk1 Sftpa1 Tgfb1 Tnc Tnf Tnfrsf1b Vip	100301568 116640 117029 117064 156767 24225 24232 24255 24773 24835 25008 25419 25670 296504 310738 59086 59109 60582 65270 81737 84475 89824	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0070408	Hengel-Maroofian-Schols syndrome	Bcas3	192197	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050848	obstructive sleep apnea Aliases: obstructive sleep apnea syndrome	STE6	853671	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0080287	spinocerebellar ataxia 45	Fat2	245827	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111729	familial episodic pain syndrome 1 Aliases: FEPS1	trpa-1	178118	Caenorhabditis elegans	Alliance of Genome Resources
DOID:11727	facioscapulohumeral muscular dystrophy Aliases: Landouzy Dejerine muscular dystrophy Landouzy-Dejerine muscular dystrophy Muscular dystrophy, Landouzy-Dejerine	cdh-4 lge-1	175590 187206	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0081276	cerebellar atrophy, visual impairment, and psychomotor retardation Aliases: CAVIPMR	emc1.L	431852	Xenopus laevis (African clawed frog)	Alliance of Genome Resources
DOID:0060196	amyotrophic lateral sclerosis type 4 Aliases: ALS 4 amyotrophic lateral sclerosis 4 amyotrophic lateral sclerosis 4, juvenile dHMN with upper motor neuron signs distal hereditary motor neuropathy with pyramidal features distal hereditary motor neuropathy with upper motor neuron signs	Setx	269254	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080199	colorectal carcinoma	Actr2 Ager Akap12 Antxr1 Calu Car12 Cd59a Cd59b Chi3l1 Csf1r Cxcr4 Efnb2 Ezh2 Il2 Itgb3 Mapk14 Mbd4 Msh3 Msh6 Ncoa2 Nf1 Pik3ca Ptprb Selenop Smad4 Smarcc1 Src Stat3 Trp53 Txnrd3	11596 12321 12509 12654 12767 12978 13642 14056 16183 16416 17128 17193 17686 17688 17978 18015 18706 19263 20363 20588 20779 20848 22059 232223 26416 333883 66713 69538 76459 83397	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110870	congenital stationary night blindness 1A Aliases: CSNB1A NBMI complete CSNB X-linked congenital stationary night blindness 1A X-linked congenital stationary night blindness with myopia hemeralopia-myopia myopia-night blindness	NYX	60506	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090057	X-linked dystonia-parkinsonism	Taf1	270627	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:12895	keratoconjunctivitis sicca Aliases: KCS	CCR5 IL6 TNF	1234 3569 7124	Homo sapiens (human)	Alliance of Genome Resources
DOID:1929	supravalvular aortic stenosis Aliases: Supra-valvular aortic stenosis	CASQ2 ELN	2006 845	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050777	Joubert syndrome Aliases: JBTS	ARL3 CC2D2A IFT74 INPP5E	403 56623 57545 80173	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111242	congenital muscular dystrophy-dystroglycanopathy type A6 Aliases: MDDGA6 Walker-Warburg syndrome or muscle-eye-brain disease, LARGE-related congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A6	Large1	16795	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:1338	congenital dyserythropoietic anemia Aliases: congenital dyshaematopoietic anaemia	aman-2	179632	Caenorhabditis elegans	Alliance of Genome Resources
DOID:585	nephrolithiasis Aliases: Stone - kidney/ureter kidney stones	CASR CSF1R FLT1 FLT3 FLT4 KDR KIT SLC34A1 SLC9A1 SLC9A2 SLC9A3 SLC9A4 SLC9A5 TGFB1 YAP1	10413 1436 2321 2322 2324 3791 3815 389015 6548 6549 6550 6553 6569 7040 846	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112306	Mahvash Disease Aliases: GCGR-related hyperglucagonemia nesidioblastosis, alpha cell hyperplasia, microglucagonoma, and nonfunctioning islet cell tumor	Gcgr	24953	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:4483	rhinitis	adm-2 srp-3	178672 181489	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0111547	retinal arterial tortuosity Aliases: RATOR retinal arteriolar tortuosity retinal hemorrhage with vascular tortuosity tortuosity of retinal arteries	let-2	181708	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0081113	Baraitser-Winter syndrome 2	Actg1	11465	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:4440	seminoma Aliases: Seminoma, Pure	daf-2 ver-1 ver-4	175182 175410 186632	Caenorhabditis elegans	Alliance of Genome Resources
DOID:14717	centronuclear myopathy Aliases: myotubular myopathy	DNM2 MTM1 MTMR6 MTMR7 MTMR8	1785 4534 55613 9107 9108	Homo sapiens (human)	Alliance of Genome Resources
DOID:13141	uveitis	Ace Aoc3 Aqp1 Aqp4 Ass1 Ccl2 Ccr5 Cd163 Gc H2-Aa H2-Ab1 H2-D1 H2-Eb1 H2-K1 H2-M2 H2-Q10 H2-Q1 H2-Q2 H2-Q4 H2-Q6 H2-Q7 H2-T3 Hspa1l Icam1 Icos Ifng Ifngr1 Il10 Il13 Il17a Il1a Il23r Il2 Il6ra Lcn2 Nr3c1 Rela Serpina3n Serpinf1 Sncb Tgfb1 Tjp1 Tlr4 Tnf Tnfrsf1a Vip	104069 110557 11421 11754 11826 11829 11898 12774 14473 14815 14960 14961 14964 14969 14972 14990 15006 15007 15013 15015 15018 15043 15482 15894 15978 15979 16153 16163 16171 16175 16183 16194 16819 19697 20296 20317 20716 209590 21803 21872 21898 21926 21937 22353 54167 93671	Mus musculus (house mouse)	Alliance of Genome Resources

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