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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	January 28, 2025
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **301 - 325** of **5716** in total

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Disease ID	Disease Name	Gene Symbol ▲	Gene ID	Organism	Source
DOID:9074	systemic lupus erythematosus Aliases: Lupus Erythematosus, systemic SLE - Lupus Erythematosus, systemic disseminated lupus erythematosus	AGER APOA1 C3 C4A C4B CAST CCL2 CD40 CFH CHAF1A CIITA CR2 CTLA4 CYP1A1 DNASE1 ELN EPOR F2 FAS FCGR2A FCGR2B FCGR3A HLA-DQB1 HLA-DRB1 HSPA1A HSPA1L IL10 IL1RN IL21 IL21R IL2 IRF5 KLKB1 MBL2 NAT2 NOD2 PDCD1 RPL14 SLC11A1 SNRNP70 SNRPC SNRPD1 SNRPD2 SOD2 STAT4 TLR5 TLR9 TNF VIM	10 10036 1380 1493 1543 177 1773 2006 2057 2147 2212 2213 2214 3075 3119 3123 3303 3305 335 355 3557 3558 3586 3663 3818 4153 4261 50615 5133 54106 59067 6347 64127 6556 6625 6631 6632 6633 6648 6775 7100 7124 718 720 721 7431 831 9045 958	Homo sapiens (human)	Alliance of Genome Resources
DOID:1909	melanoma Aliases: Naevocarcinoma malignant melanoma	AGER ASS1 BMP4 BRCA2 CAT CD40 CTLA4 ERCC5 FAS FASLG HLA-DQA1 IL1RN JUNB LRP1B MC1R NFKB1 NRAS RNASET2 SPP1 TERT TLR4 TP53 TYR	1493 177 2073 3117 355 3557 356 3726 4157 445 4790 4893 53353 652 6696 675 7015 7099 7157 7299 847 8635 958	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080162	lupus nephritis	AGER CCL2 CD40LG CFH CTLA4 FCGR2A FCGR3A HLA-DQA1 HLA-DRB1 IFNG ITGAM KLKB1 MBL2 MPO PDCD1 SNRPE TLR9 TNFRSF1B	1493 177 2212 2214 3075 3117 3123 3458 3684 3818 4153 4353 5133 54106 6347 6635 7133 959	Homo sapiens (human)	Alliance of Genome Resources
DOID:13564	aspergillosis Aliases: Infection due to Aspergillus	AGER CD209 CLEC1A CLEC7A IL15 TLR1 TLR6	10333 177 30835 3600 51267 64581 7096	Homo sapiens (human)	Alliance of Genome Resources
DOID:11981	morbid obesity Aliases: Severe obesity	AGER CTNNBL1 GHRL MC4R MCHR1 NPY2R NTRK2	177 2847 4160 4887 4915 51738 56259	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080832	mild cognitive impairment	AGER SLC6A3	177 6531	Homo sapiens (human)	Alliance of Genome Resources
DOID:9540	vascular skin disease	AGER	177	Homo sapiens (human)	Alliance of Genome Resources
DOID:10646	schizotypal personality disorder	AGER	177	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110245	cataract 38 Aliases: CATC5 CTRCT38 autosomal recessive congenital cataract 5	AGK	55750	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080132	Sengers syndrome Aliases: mitochondrial DNA depletion syndrome 10 mitochondrial DNA depletion syndrome 10 (cardiomyopathic type)	AGK	55750	Homo sapiens (human)	Alliance of Genome Resources
DOID:2748	glycogen storage disease III Aliases: Glycogen storage disease 3 Glycogen storage disease, type III amylo 1,6 glucosidase deficiency deficiency of debranching enzyme deficiency of dextrin	AGL	178	Homo sapiens (human)	Alliance of Genome Resources
DOID:1686	glaucoma	AGO2 BDNF EEF2 EPO FOXC1 HLA-DQB1 HLA-DRB1 LINGO1 OPTN WDR36	10133 134430 1938 2056 2296 27161 3119 3123 627 84894	Homo sapiens (human)	Alliance of Genome Resources
DOID:811	lipodystrophy	AGPAT2 BSCL2 LMNA PPARG	10555 26580 4000 5468	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111135	congenital generalized lipodystrophy type 1 Aliases: Berardinelli-Seip Congenital Lipodystrophy, Type 1 Brunzell syndrome AGPAT2-related	AGPAT2	10555	Homo sapiens (human)	Alliance of Genome Resources
DOID:2580	rhizomelic chondrodysplasia punctata Aliases: Chondrodysplasia Punctata, Rhizomelic Form	AGPS	8540	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110853	rhizomelic chondrodysplasia punctata type 3 Aliases: AGPS deficiency Alkyldihydroxyacetonephosphate Synthase Deficiency Alkylglycerone-Phosphate Synthase Deficiency RCDP3	AGPS	8540	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110657	congenital myasthenic syndrome 8 Aliases: CMS8 congenital myasthenic syndrome 8 with pre- and postsynaptic defects congenital myasthenic syndrome due to agrin deficiency	AGRN	375790	Homo sapiens (human)	Alliance of Genome Resources
DOID:6713	cerebrovascular disease Aliases: CVA cerebrovascular disorder stroke	AGT AGTR1 APOE G6PD GLCE LMNA NR1H3 P2RY12 SELE	10062 183 185 2539 26035 348 4000 6401 64805	Homo sapiens (human)	Alliance of Genome Resources
DOID:3407	carotid artery disease Aliases: disorder of carotid artery	AGT AGTR1 CD14 CETP FGB LTA LUM MMP1 MMP2 MMP8 MMP9 PPARG PRL PTGDS SELPLG SOD2 SREBF2 TLR4 UCP2	1071 183 185 2244 4049 4060 4312 4313 4317 4318 5468 5617 5730 6404 6648 6721 7099 7351 929	Homo sapiens (human)	Alliance of Genome Resources
DOID:13884	sick sinus syndrome Aliases: sinus node infection	AGT ANK2 HCN4 SCN5A	10021 183 287 6331	Homo sapiens (human)	Alliance of Genome Resources
DOID:12185	otosclerosis	AGT BMP2 BMP4 COL1A1 HLA-B	1277 183 3106 650 652	Homo sapiens (human)	Alliance of Genome Resources
DOID:11984	hypertrophic cardiomyopathy Aliases: hypertrophic obstructive cardiomyopathy	AGT CACNB2 CMA1 CS CTSL LAMP2 MMP1 MYBPC3 MYH7 NDUFS2 TNNI3 VCL	1215 1431 1514 183 3920 4312 4607 4625 4720 7137 7414 783	Homo sapiens (human)	Alliance of Genome Resources
DOID:11111	hydronephrosis	AGT	183	Homo sapiens (human)	Alliance of Genome Resources
DOID:12705	Friedreich ataxia Aliases: Friedreich's ataxia Friedreich's tabes	AGTR1	185	Homo sapiens (human)	Alliance of Genome Resources
DOID:9993	hypoglycemia Aliases: Hypoglycaemia	AGTR2 AKT2 CYP2C9 GCK GLUD1 HNF4A PPP1R3A UCP3	1559 186 208 2645 2746 3172 5506 7352	Homo sapiens (human)	Alliance of Genome Resources

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