GlyCosmos Portal

Source	Last Updated
Alliance of Genome Resources	October 9, 2024
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **6301 - 6325** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source
DOID:1270	hereditary hemorrhagic telangiectasia Aliases: Osler hemorrhagic telangiectasia syndrome Osler-Weber-Rendu disease Rendu-Osler-Weber disease	Acvrl1 Bmp10 Tgfb1 Tnf	24835 25237 500245 59086	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0110431	dilated cardiomyopathy 1I Aliases: CMD1I	Des	13346	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:2583	agammaglobulinemia Aliases: IGHM hypogammaglobulinemia mu heavy chain deficiency	Lrrc8a	311846	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:9827	radioulnar synostosis	HOXA11 SMAD6	3207 4091	Homo sapiens (human)	Alliance of Genome Resources
DOID:10763	hypertension Aliases: HTN hyperpiesia vascular hypertensive disorder	ATP6AP2 Ace Acer Ance-3 Ance Appl Atg6 Atpalpha CG31743 Calx Cht10 DAT Dop1R1 Dop1R2 Dop2R Egfr Eno GlcT Glut1 Hex-t1 Hex-t2 Hsc70-4 Hsepi Idgf1 Idgf2 Idgf3 Idgf4 Idgf5 Idgf6 InR ItgaPS4 ItgaPS5 Jra Lar Ldh Mtp Nep1 Nep3 Nep4 Octbeta1R Octbeta2R Ogg1 Pdfr Ptp69D PyK Sh Snmp1 Snmp2 Sod3 Spn27A Spn28Dc Spn88Ea Tbh TkR99D Tsf2 dpp if sca scb sgg tor trol	117364 31002 31234 31248 31547 31718 31806 31926 326156 32661 32780 33005 33007 33351 33432 3355116 34091 34189 34805 34808 34978 34979 34981 35259 35362 35569 35717 36057 36232 36411 36692 36693 36849 36868 37104 37455 37516 37732 38109 38868 39435 39443 41104 41549 41625 41726 41840 42449 42481 42514 42549 42620 42652 42850 43191 43484 43551 45320 45815 45880 48971 49804	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:12010	anterior ischemic optic neuropathy Aliases: Ischemic optic neuropathy	CSF3 NOS3	1440 4846	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110170	Charcot-Marie-Tooth disease axonal type 2Q Aliases: CMT2Q Charcot-Marie-Tooth neuropathy type 2Q autosomal dominant Charcot-Marie-Tooth disease type 2Q autosomal dominant axonal Charcot-Marie-Tooth disease type 2Q	DHTKD1	55526	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111614	autosomal recessive spinocerebellar ataxia 22 Aliases: SCAR22	VWA3B	200403	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070292	primary autosomal recessive microcephaly 9 Aliases: MCPH9	CEP152	22995	Homo sapiens (human)	Alliance of Genome Resources
DOID:5223	infertility	Cdkn1b Esr1	24890 83571	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0080019	metaphyseal dysplasia Aliases: Bakwin-Krida syndrome Pyle's disease Pyle-Cohn syndrome	SFRP4	6424	Homo sapiens (human)	Alliance of Genome Resources
DOID:3635	congenital myasthenic syndrome	chrna1	30725	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:3572	intracranial sinus thrombosis	GPX3	2878	Homo sapiens (human)	Alliance of Genome Resources
DOID:14499	Fabry disease Aliases: Alpha-galactosidase A deficiency Angiokeratoma Corporis Diffusum Fabry Disease, Cardiac Variant Fabry's disease alpha galactosidase deficiency deficiency of melibiase	Ace Gla Il1a Naga	11421 11605 16175 17939	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0112056	X-linked intellectual disability-short stature-overweight syndrome Aliases: MRX12 MRX35 X-linked mental retardation 12 X-linked mental retardation 35	THOC2	57187	Homo sapiens (human)	Alliance of Genome Resources
DOID:3307	teratoma	wnt2b.L	378566	Xenopus laevis (African clawed frog)	Alliance of Genome Resources
DOID:0060356	Vici syndrome Aliases: immunodeficiency with cleft lip/palate, cataract, hypopigmentation, and absent corpus callosum	EPG5	57724	Homo sapiens (human)	Alliance of Genome Resources
DOID:8778	Crohn's disease Aliases: Crohn disease Crohn's disease of colon Crohn's disease of large bowel Granulomatous Colitis Pediatric Crohn's disease	45566 R193.2 W01C8.5 acr-15 acr-16 acr-7 bli-3 dhrr-1 duox-2 eat-2 gpx-3 gpx-5 pgp-1 pgp-3 poml-1 poml-2 smf-1 smf-2 smf-3 ugt-61 ver-1 ver-4	171608 171999 172841 174262 175072 175182 177044 178215 179235 180836 180939 181178 181326 182256 182513 185500 186188 186632 187297 191374 191602 191766	Caenorhabditis elegans	Alliance of Genome Resources
DOID:11429	endometriosis of pelvic peritoneum	Cd68	12514	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111696	familial adult myoclonic epilepsy 6 Aliases: BAFME6 FAME6 FCMTE6 benign adult familial myoclonic epilepsy 6 familial cortical myoclonic tremor and epilepsy 6	TNRC6A	27327	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110640	congenital muscular dystrophy due to LMNA mutation Aliases: L-CMD LMNA-related congenital muscular dystrophy congenital muscular dystrophy LMNA-related	Lmna Lmnb1 Lmnb2	16905 16906 16907	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:8778	Crohn's disease Aliases: Crohn disease Crohn's disease of colon Crohn's disease of large bowel Granulomatous Colitis Pediatric Crohn's disease	pon2 ugt1a1 ugt1a6	100135191 100489505 448598	Xenopus tropicalis (tropical clawed frog)	Alliance of Genome Resources
DOID:0112275	developmental and epileptic encephalopathy 93 Aliases: DEE93 IECEE3 infantile or early childhood epileptic encephalopathy 3	st6gal2	407846	Xenopus tropicalis (tropical clawed frog)	Alliance of Genome Resources
DOID:0050590	severe congenital neutropenia	HSP104	850633	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0050784	primary progressive multiple sclerosis Aliases: PPMS Primary-progressive MS	W01F3.2 ace-1 ace-2 ace-3 grd-2 wrt-6 zmp-4	171905 175076 179991 180349 180351 180638 181706	Caenorhabditis elegans	Alliance of Genome Resources

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