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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 **15126 - 15150** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source
DOID:11832	visual epilepsy Aliases: epilepsy, visual	acr-2 acr-3 adt-2 apl-1 cwn-1 dop-2 enol-1 gbb-1 glr-1 glr-2 glr-3 let-23 mgl-1 mrp-1 mrp-7 nlr-1 skn-1 unc-38 unc-63	172105 172150 172449 173399 174423 174462 175999 176204 177343 178167 179347 180289 180409 180783 180936 180937 181022 189837 191707	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0080685	aortic dissection	Acta1 Efemp2 Ephb1 Nono Spp1	11459 20750 270190 53610 58859	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060811	syndromic X-linked intellectual disability Turner type Aliases: Brooks-Wisniewski-Brown syndrome MRXST X-linked intellectual disability, Brooks type mental retardation and macrocephaly syndrome mental retardation, X-linked syndromic, Turner type	Huwe1	59026	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:783	end stage renal disease Aliases: end stage renal failure end-stage kidney disease	ABCA1 ABCB1 ABCC2 ABCC3 ABCG1 ACAT1 ACE ADIPOQ ADRB2 AGER AGTR2 ALB APOA1 APOC2 APOC3 APOE BDKRB1 C6 CASR CAT CCL2 CCL5 CCR5 CD2AP CD40 CD40LG CFB CHGA COL1A1 COL3A1 COL4A3 COL4A4 CPT1A CSF1 CTLA4 CXCR1 CXCR2 CYBB CYP1A1 CYP2C18 CYP2C8 CYP3A5 DRD1 DRD2 EDN1 ENPP1 EPOR F2 F5 FCGR2B FGB FN1 GHRL GLO1 GTPBP4 HMGCR ICAM1 IL1A IL1RN IL20 IRS1 ITGA8 ITGB3 KEAP1 KL KLK1 LCAT LCN2 LEP LIPC LPIN1 LPL LRP2 MBL2 MLXIPL MMP1 MMP2 MMP3 MPO MTOR MYH9 NGF NOS1 NOS3 NPHS1 NPPB NPPC NR3C1 OLR1 PGF PLA2G7 PLAU PLAUR POSTN PPARG PTGER4 RELA SCAF1 SCAP SCARB1 SELL SERPINE1 SLC22A2 SLC34A1 SLC9A5 SOAT2 SREBF2 TGFB1 THBD TLR2 TLR4 TNF TNFRSF11B TNFRSF1A TNFRSF1B UCP2 VWF	10631 1113 1234 1244 1277 1281 1285 1286 1374 1435 1493 1536 154 1543 1558 1562 1577 1636 177 1812 1813 186 19 1906 2057 213 2147 2153 2213 2244 22937 23175 2335 23560 23607 2475 2739 2908 3156 335 3383 344 345 348 3552 3557 3577 3579 3667 3690 38 3816 3931 3934 3952 3990 4023 4036 4153 4312 4313 4314 4353 4627 4803 4842 4846 4868 4879 4880 4973 4982 5054 50604 51085 5167 51738 5228 5243 5328 5329 5468 5734 58506 5970 623 629 6347 6352 6402 6553 6569 6582 6721 7040 7056 7097 7099 7124 7132 7133 729 7351 7450 7941 8435 846 847 8516 8714 9365 9370 949 958 959 9619 9817	Homo sapiens (human)	Alliance of Genome Resources
DOID:9415	allergic asthma Aliases: extrinsic asthma with acute exacerbation extrinsic asthma with status asthmaticus	pxn-1 pxn-2	181288 191484	Caenorhabditis elegans	Alliance of Genome Resources
DOID:2513	basal cell carcinoma Aliases: Basal cell cancer Basal cell carcinoma of skin Basal cell neoplasm Basal cell tumor Epithelioma basal cell Rodent ulcer malignant Basal cell neoplasm malignant basal cell tumor	smo	30225	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:0111180	French Canadian Leigh disease Aliases: French Canadian type COX deficiency French Canadian type Leigh syndrome French Canadian type cytochrome c oxidase deficiency Saguenay Lac saint Jean type COX deficiency Saguenay Lac saint Jean type Leigh syndrome mitochondrial complex IV deficiency nuclear type 5	LRPPRC	10128	Homo sapiens (human)	Alliance of Genome Resources
DOID:350	mastocytosis Aliases: mast cell hyperplasia	kit.L	373579	Xenopus laevis (African clawed frog)	Alliance of Genome Resources
DOID:0111995	immunodeficiency 28 Aliases: IFNGR2 deficiency IMD28 MSMD due to complete IFNgammaR2 deficiency MSMD due to complete interferon gamma receptor 2 deficiency Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency Mendelian susceptibility to mycobacterial diseases due to complete interferon gamma receptor 2 deficiency immunodeficiency 28, mycobacteriosis	Ifngr2	15980	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0112336	spermatogenic failure 56 Aliases: SPGF56	DNAH10	196385	Homo sapiens (human)	Alliance of Genome Resources
DOID:4451	renal carcinoma Aliases: carcinoma of kidney kidney carcinoma	FOSL2 JUN JUNB JUND	2355 3725 3726 3727	Homo sapiens (human)	Alliance of Genome Resources
DOID:7614	meninges sarcoma Aliases: Meningeal sarcoma sarcoma of meninges	Tp53	24842	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0080208	metabolic dysfunction-associated steatotic liver disease Aliases: MAFLD MASLD NAFLD metabolic dysfunction-associated fatty liver disease metabolic dysfunction-related steatotic liver disease metabolic-associated fatty liver disease non-alcoholic fatty liver disease nonalcoholic fatty liver disease	chup-1 daf-2 dsc-4 gspd-1 mrp-1 mrp-2 mrp-7 pgp-1 pgp-3 poml-1 poml-2 skn-1 srp-3	171999 175410 176852 177343 178046 178215 178672 180289 180408 180409 181125 181326 187297	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0110933	nemaline myopathy 11 Aliases: NEM11 nemaline myopathy 11, autosomal recessive	Mypn	68802	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:8645	subacute delirium	ache	114549	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:0112035	non-syndromic X-linked intellectual disability 96 Aliases: MRX96 X-linked mental retardation 96	SYP	6855	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110484	autosomal recessive nonsyndromic deafness 26 Aliases: DFNB26 autosomal recessive deafness 26	Gab1	14388	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:7998	hyperthyroidism Aliases: overactive thyroid	ADIPOQ ANXA1 ANXA2 ANXA5 APOA1 APOA2 APOC3 BDH1 CAT CP CS CTSL CTSV GPX1 HLA-DQB1 IGF1R IL10 MCM7 NR1D1 PCSK1 PPARGC1A SERPINA7 SERPINE1 SLC34A1 SLC9A1 SOD1 TSHR UCP3 UGT1A1 VIM	10891 1356 1431 1514 1515 2876 301 302 308 3119 335 336 345 3480 3586 4176 5054 5122 54658 622 6548 6569 6647 6906 7253 7352 7431 847 9370 9572	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081339	congenital myopathy 2B	Acta1	29437	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0110180	Charcot-Marie-Tooth disease axonal type 2CC Aliases: CMT2CC Charcot-Marie-Tooth neuropathy type 2CC	Nefh	380684	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110064	amelogenesis imperfecta type 1H Aliases: AI1H amelogenesis imperfecta type IH	Itgb6	16420	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111227	frontotemporal dementia and/or amyotrophic lateral sclerosis 7 Aliases: ALS17 (FORMERLY) AMYOTROPHIC LATERAL SCLEROSIS AMYOTROPHIC LATERAL SCLEROSIS 17 (FORMERLY) CHMP2B-RELATED CHMP2B-related frontotemporal dementia FRONTOTEMPORAL DEMENTIA FTD3 FTDALS7 amyotrophic lateral sclerosis type 17 chromosome 3-linked frontotemporal dementia	CHMP2B	25978	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050807	Kahrizi syndrome Aliases: KHRZ intellectual disability, Kahrizi type intellectual disability-cataract-coloboma-kyphosis syndrome	SRD5A3	79644	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060874	isolated growth hormone deficiency type IB Aliases: IGHD IB congenital IGHD type IB congenital isolated GH deficiency type IB congenital isolated growth hormone deficiency type IB dwarfism of Sindh	Ghrhr	25321	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:8577	ulcerative colitis Aliases: Left-sided ulcerative colitis	cxcr4 pon2	100038176 448598	Xenopus tropicalis (tropical clawed frog)	Alliance of Genome Resources

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