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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 **8551 - 8575** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source
DOID:1289	neurodegenerative disease Aliases: degenerative disease	Abcg2 Aco2 Dync1h1 Epo Got2 Gria1 Gria2 Gria3 Gria4 Grik1 Grik2 Grik3 Grin1 Pon1 Pon2 Pon3 Psmb1 Sarm1 Scnn1a Scnn1b Scnn1g Sdha Slc17a6 Slc17a8 Slc1a1 Slc1a2 Slc1a3 Slc1a6 Tpi1 Trak1 Trak2 Tspan3 Ubqln2	157074 171086 24335 24408 24767 24768 24849 25122 25550 25721 266767 287545 29482 29483 29489 29559 29627 29628 29629 296851 298521 300733 312086 312382 316085 317396 50592 54257 79250 84012 84024 84487 94198	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:14415	Legg-Calve-Perthes disease Aliases: Calve - Perthes' disease Coxa plana Juvenile osteochond-hip/pelvis Juvenile osteochondrosis of hip and/or pelvis Perthe's disease Perthes disease juvenile osteochondrosis of hip and pelvis osteochondrosis of Legg-Calve-Perthes pseudocoxalgia	col2a1.L	397738	Xenopus laevis (African clawed frog)	Alliance of Genome Resources
DOID:0050956	spinocerebellar ataxia type 6	cac	32158	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0050700	cardiomyopathy Aliases: Cardiomyopathies	Acsl1 Adam10 Adipoq Amn Araf Asah2 Atp5f1b Bag3 Braf Casr Ccl2 Col15a1 Col18a1 Cxcr4 Des Egfbp2 Egfr Ep300 Erbb2 Erbb3 Erbb4 Got1 Hfe Ifng Igf1r Itga7 Jph1 Jph2 Jund Jup Klk1 Klk1b11 Klk1b16 Klk1b1 Klk1b21 Klk1b22 Klk1b24 Klk1b26 Klk1b27 Klk1b3 Klk1b4 Klk1b5 Klk1b8 Klk1b9 Kras Ldb3 Lrp1 Mlycd Mmp2 Mmp9 Myh13 Myh1 Myh2 Myh3 Myh4 Myh6 Myh7 Myh7b Ncam1 Nono Nos3 Pde2a Pdlim5 Pdlim7 Phactr1 Pomt1 Ppargc1a Ppp3ca Rph3a Rragc Sgcd Sgcg Sgcz Slc22a21 Slc22a5 Slc31a1 Slc4a1 Sod2 Sparc Sparcl1 Srf Tab2 Tbx20 Tnf Tnni3 Tshr Uts2r	109880 11450 11487 11836 11947 12374 12767 12819 12822 13346 13602 13646 13647 13648 13649 13866 13867 13869 140781 14081 14718 15216 15978 16001 16404 16478 16480 16612 16613 16615 16616 16617 16618 16619 16622 16623 16624 16653 16971 17390 17395 17879 17882 17883 17884 17888 17967 18048 18050 18127 19017 19055 19894 20296 20520 20529 20533 20656 20692 207728 20807 217369 218194 21926 21954 22095 24052 24053 24131 244431 29810 328572 53610 54170 54447 544791 56376 56517 56690 57246 57339 59091 668940 67399 68652 93835 99011	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060691	platelet-type bleeding disorder 16 Aliases: autosomal dominant Glanzmann thrombasthenia autosomal dominant thrombasthenia of Glanzmann and Naegeli	if mys	32661 44885	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:4752	multiple system atrophy Aliases: Shy-Drager syndrome	Coq2 Fas Igf2 Slc1a1 Slc6a6 Snca	24483 246097 25550 29219 29464 498332	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0110739	neurodegeneration with brain iron accumulation 5 Aliases: BPAN Beta-Propeller Protein-Associated Neurodegeneration NBIA5 SENDA Static Encephalopathy Of Childhood With Neurodegeneration In Adulthood	Wdr45	54636	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:3304	germinoma	PDPN	10630	Homo sapiens (human)	Alliance of Genome Resources
DOID:4029	gastritis Aliases: Erosive Gastritis Erosive gastropathy acute gastric mucosal erosion	ARPC1B CBLIF CCL2 NOD2 PTGS2 TNF	10095 2694 5743 6347 64127 7124	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111677	familial benign fleck retina Aliases: FRFB	PLA2G5	5322	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110349	osteogenesis imperfecta type 9 Aliases: OI9 osteogenesis imperfecta type IX	cyn-6	175231	Caenorhabditis elegans	Alliance of Genome Resources
DOID:4511	breast angiosarcoma Aliases: hemangiosarcoma of the breast	Kdr Pik3ca	170911 25589	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0080282	developmental and epileptic encephalopathy 56 Aliases: DEE56 early infantile epileptic encephalopathy 56	Ywhag	22628	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0112310	central precocious puberty 1 Aliases: CPPB1	KISS1R	84634	Homo sapiens (human)	Alliance of Genome Resources
DOID:1826	epilepsy Aliases: epilepsy syndrome epileptic syndrome	ache cacna1aa cacna1ab cacna1ba gapdh nus1 scn4aa scn4ab slc12a2 tmtc3	100150181 114549 317743 415170 436629 555941 562059 564977 569528 572442	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:0111814	methylmalonic acidemia and homocysteinemia cblX type Aliases: combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblX mental retardation, X-linked 3 methylmalonic aciduria with homocystinuria, type cblX	Hcf	43788	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
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	FKRP	79147	Homo sapiens (human)	Glyco-Disease Genes Database 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	ABCB1 ADIPOQ ALOX12 ALPI APOA4 BPI CD40 CHRNA7 CLDN1 COL6A3 DUOX2 F13A1 F2 FCGR2A FCGR3A FGA FGF7 GC GPX1 HFE HLA-DPA1 HLA-DQB1 ICAM1 IFNG IL10 IL21R IL23R IL6 KDR LRRK2 MADCAM1 MBL2 MKI67 NOD2 OCLN PBRM1 PGF PIKFYVE PLAUR PON1 PON3 PRF1 PTGS2 SELL SLC11A1 SLC22A5 STAT3 THBD TNF TNFRSF1A TNFRSF1B UGT1A1 VEGFA VIPR1	100506658 1139 120892 1293 149233 200576 2147 2162 2212 2214 2243 2252 239 248 2638 2876 3077 3113 3119 337 3383 3458 3569 3586 3791 4153 4288 50506 50615 5228 5243 5329 5444 5446 54658 55193 5551 5743 6402 64127 6556 6584 671 6774 7056 7124 7132 7133 7422 7433 8174 9076 9370 958	Homo sapiens (human)	Alliance of Genome Resources
DOID:1123	spondyloarthropathy Aliases: spondarthropathy spondylarthrosis	Col2a1 Enpp1 H2-D1 H2-K1 H2-M2 H2-Q10 H2-Q1 H2-Q2 H2-Q4 H2-Q6 H2-Q7 H2-T3 Tnf	110557 12824 14964 14972 14990 15006 15007 15013 15015 15018 15043 18605 21926	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:9282	ocular hypertension	TPI1	851620	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0080559	congenital disorder of glycosylation Ig Aliases: ALG12-congenital disorder of glycosylation congenital disorder of glycosylation 1g	alg12.L	108711164	Xenopus laevis (African clawed frog)	Alliance of Genome Resources
DOID:12554	hemolytic-uremic syndrome Aliases: haemolytic-uraemic syndrome hemolytic uremic syndrome	c1galt1c1	448225	Xenopus tropicalis (tropical clawed frog)	Alliance of Genome Resources
DOID:13801	pharyngoconjunctival fever Aliases: Adenoviral pharyngoconjunctivitis pharyngo-conjunctival fever	Crp	25419	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0112374	muscular dystrophy-dystroglycanopathy Aliases: MDDG	DAG1 GMPPB POMT1 POMT2	10585 1605 29925 29954	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080000	muscular disease	Acaca Acacb Clu Cpt2 Fasn Hmgcr Itga7 Lpl Nmt1	100705 107476 12759 12896 14104 15357 16404 16956 18107	Mus musculus (house mouse)	Alliance of Genome Resources

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