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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 **4976 - 5000** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲	Source
DOID:2590	familial nephrotic syndrome Aliases: Congenital nephrotic syndrome	DAAM2 LAMA5	23500 3911	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110307	hypertrophic cardiomyopathy 1 Aliases: CMH1 cardiomyopathy, familial hypertrophic 1 hypertrophic cardiomyopathy 19	MYH7	4625	Homo sapiens (human)	Alliance of Genome Resources
DOID:8398	osteoarthritis Aliases: Osteoarthrosis and allied disorder degenerative arthritis degenerative joint disease hypertrophic arthritis osteoarthrosis	ACAN ADAM12 ADAMTS14 ADAMTS5 AGER ASPN ATP7A BAD BAG6 BAX BMP2 BMP7 BMPR1A CASP9 CCR4 CD36 CILP CLEC3B COL11A1 COL1A1 COL2A1 COL9A1 DDR2 EFEMP2 EGR1 ENPP1 EPAS1 ERRFI1 ESR1 FCGR2A FGFR1 FLT1 FN1 FRZB GDF5 GHR HBP1 HFE HIF1A IGF1R IGF2 IGFBP3 IHH IL1A IL4R IL5 INS JAG1 LEP MATN3 MMP13 MMP1 MMP2 MMP3 MMP8 MMP9 NCOR2 NFATC1 NGF PECAM1 POMC PTGS2 SERPINA1 TGFBR1 TNFRSF10A TNFRSF10B TNFRSF10C TNFRSF10D TNFRSF11B	11096 1233 1277 1280 1297 1301 140766 176 177 182 1958 2034 2099 2212 2260 2321 2335 2487 2690 26959 30008 3077 3091 3480 3481 3486 3549 3552 3566 3567 3630 3952 4148 4312 4313 4314 4317 4318 4322 4772 4803 4921 4982 5167 5175 5265 538 54206 5443 54829 572 5743 581 650 655 657 7046 7123 7917 8038 8200 842 8483 8793 8794 8795 8797 948 9612	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111296	generalized epilepsy with febrile seizures plus 10 Aliases: GEFS+10 GEFSP10 generalised epilepsy with febrile seizures plus 10 generalised epilepsy with febrile seizures plus type 10 generalized epilepsy with febrile seizures plus type 10	HCN1	348980	Homo sapiens (human)	Alliance of Genome Resources
DOID:447	renal tubular transport disease Aliases: inborn renal tubular transport disorder	CLCN5	1184	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080286	spinocerebellar ataxia 44	GRM1	2911	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090060	Wolcott-Rallison syndrome	EIF2AK3	9451	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110383	retinitis pigmentosa 7 Aliases: RP7	PRPH2 ROM1	5961 6094	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112367	Coffin-Siris syndrome 8 Aliases: CSS8	SMARCC2	6601	Homo sapiens (human)	Alliance of Genome Resources
DOID:890	mitochondrial encephalomyopathy	SDHB TYMP VARS1	1890 6390 7407	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081156	common variable immunodeficiency 14	IRF2BP2	359948	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080334	aortic valve disease 2	FTO LMNA MMP2 SMAD6	4000 4091 4313 79068	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:648	kuru Aliases: kuru encephalopathy	PRNP	5621	Homo sapiens (human)	Alliance of Genome Resources
DOID:13891	bird fancier's lung Aliases: Avian hypersensitivity Pneumonitis Bird-fancier's lung Bird-fanciers' lung bird breeder's lung bird fancier lung pigeon breeder's lung poultry worker's lung	MUC1	4582	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070281	primary autosomal recessive microcephaly 19 Aliases: MCPH19	COPB2	9276	Homo sapiens (human)	Alliance of Genome Resources
DOID:11263	chlamydia Aliases: Chlamydia trachomatis infectious disease Chlamydial Infection chlamydial disease	TGFB1	7040	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060306	Meier-Gorlin syndrome Aliases: ear-patella-short stature syndrome	BMP5	653	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060218	CREST syndrome	CENPC FBN1	1060 2200	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080499	ovarian dysgenesis 7	MRPS22	56945	Homo sapiens (human)	Alliance of Genome Resources
DOID:7148	rheumatoid arthritis Aliases: Arthritis or polyarthritis, rheumatic atrophic Arthritis	ACAN ADAMTS4 ADAMTS5 ADIPOQ ADRB3 AGER APOA4 AZGP1 BTNL2 C3 C4B CASP7 CAST CCL2 CCN1 CCR1 CCR3 CCR4 CCR5 CD244 CD28 CD40 CD80 CEBPB CHI3L1 CHRFAM7A CHRNA7 CIITA CLEC16A CX3CL1 CXCR3 DNASE2 DNMT1 EDN1 ELN EPAS1 ESCO2 FAS FCGR1A FCGR2A FCGR3A FOXO3 GC HFE HGF HIF1A HLA-DQA1 HLA-DQB1 HLA-DRB1 HNRNPA2B1 HSP90AA1 HSPA4 HSPA5 HSPA9 HSPB1 HSPD1 IFNG IGF2 IL10 IL13 IL17A IL1A IL1RN IL20 IL23R IL2 IL3 IL4R IL5 IL6ST IRF5 KAT2B KMT2C LPA LRRK2 MBD4 MMP14 MMP1 MMP3 MMP8 MMP9 NOTCH4 NPSR1 NR3C1 OPRM1 PDGFB PGF PLA2G7 PLAUR PTGS2 SEMA3C SLC11A1 SLC22A4 SPP1 STAT3 TAB2 TAB3 THBD TNF TNFRSF1A TREM1 TYMS VEGFA VIM ZAP70	1051 10512 11096 1116 1139 120892 1230 1232 1233 1234 149233 155 157570 176 177 1777 1786 1906 2006 2034 2209 2212 2214 2309 23118 23274 257397 2638 2833 2908 3077 3082 3091 3117 3119 3123 3181 3308 3309 3313 3315 3320 3329 337 3458 3481 3491 355 3552 3557 3558 3562 3566 3567 3572 3586 3596 3605 3663 387129 4018 4261 4312 4314 4317 4318 4323 4855 4988 50604 5155 51744 5228 5329 54210 56244 563 5743 58508 6347 6376 6556 6583 6696 6774 7056 7124 7132 718 721 7298 7422 7431 7535 7941 831 840 8850 8930 89832 9370 940 941 9507 958	Homo sapiens (human)	Alliance of Genome Resources
DOID:303	substance-related disorder	CDH13 FASLG GSK3B HTR2C KCNMA1 KCNU1 PTEN SLC18A2	1012 157855 2932 3358 356 3778 5728 6571	Homo sapiens (human)	Alliance of Genome Resources
DOID:1927	sphingolipidosis Aliases: sphingolipidoses	ASAH1 SPNS1 SPNS2	124976 427 83985	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110229	cataract 6 multiple types Aliases: CTRCT6	EPHA2	1969	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050689	brachydactyly-syndactyly syndrome	HOXD13	3239	Homo sapiens (human)	Alliance of Genome Resources

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