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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 **8826 - 8850** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼	Source
DOID:0110171	Charcot-Marie-Tooth disease axonal type 2S Aliases: CMT2S Charcot-Marie-Tooth disease type 2S Charcot-Marie-Tooth neuropathy type 2S autosomal recessive axonal Charcot-Marie-Tooth type 2S	IGHMBP2	3508	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112062	immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia Aliases: IMD73C	RAC2	5880	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070262	congenital disorder of glycosylation type IIj Aliases: CDG IIj CDG syndrome type IIj CDG2J CDGIIdj COG4-CDG Carbohydrate deficient glycoprotein syndrome type IIj Congenital disorder of glycosylation type 2j	COG4	25839	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:0080562	congenital disorder of glycosylation Ij Aliases: Congenital disorder of glycosylation 1j	DPAGT1	1798	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:3261	hyper IgE recurrent infection syndrome 1 Aliases: Job syndrome Job's syndrome hyperimmunoglobulin E syndrome	IL4R STAT3	3566 6774	Homo sapiens (human)	Alliance of Genome Resources
DOID:4992	optic nerve glioma Aliases: glioma of the optic nerve	NF1	4763	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080980	arthrogryposis multiplex congenita-4 Aliases: Zain syndrome	SCYL2	55681	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110219	Brugada syndrome 2 Aliases: BRGDA2	GPD1L	23171	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050692	Brody myopathy	ATP2A3	489	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080773	delta beta-thalassemia	HBB	3043	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070277	primary autosomal recessive microcephaly 15 Aliases: MCPH15 NEDMISBA neurodevelopmental disorder with progressive microcephaly, spasticity, and brain imaging abnormalities	MFSD2A	84879	Homo sapiens (human)	Alliance of Genome Resources
DOID:14256	adult-onset Still's disease Aliases: adult onset Still's disease adult-onset Still disease	HGF VEGFA	3082 7422	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110474	autosomal recessive nonsyndromic deafness 18B Aliases: DFNB18B autosomal recessive deafness 18B	OTOG	340990	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112377	muscular dystrophy-dystroglycanopathy type B14 Aliases: MDDGB14 congenital muscular dystrophy GMPPB-related	GMPPB	29925	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080846	latent autoimmune diabetes in adults Aliases: LADA type 1.5 diabetes	CTLA4	1493	Homo sapiens (human)	Alliance of Genome Resources
DOID:8295	scabies Aliases: Infestation by Sarcoptes scabiei Infestation by Sarcoptes scabiei var hominis Sarcoptic itch	CAT	847	Homo sapiens (human)	Alliance of Genome Resources
DOID:687	hepatoblastoma	APOA1 CDH1 CLDN1 CTNNB1 DPEP1 FAS GPC3 MKI67 SALL1 SALL4 SMO SPOP ZFHX3	1499 1800 2719 335 355 4288 463 57167 6299 6608 8405 9076 999	Homo sapiens (human)	Alliance of Genome Resources
DOID:418	systemic scleroderma Aliases: Scleroderma Scleroderma syndrome progressive systemic sclerosis systemic sclerosis	ACE ADAMTS13 AGER AGT ANXA5 BDNF C3 CCL2 CCR6 CD86 CFB CHI3L1 CLU COL1A1 COL3A1 CP CSF1 CX3CL1 CXCL16 CXCR3 CXCR6 EDN1 ELN ESR1 F11R F2 FBN1 FLI1 FLT4 FOSL2 GPX3 HGF HLA-DQA1 HMGB1 ICAM1 IFNG IGFBP3 IL13 IL13RA1 IL17A IL1R1 IL23R IL27RA IL2 IL4 IL6 JAM3 KDR LTA MMP1 MMP3 MMP9 MUC1 NGF NOTCH4 PECAM1 PTGS2 RBP4 SELENOP SERPINE1 SERPINF2 SLC11A1 STAT4 TGFBR1 VEGFA VWF	10663 11093 1116 1191 1235 1277 1281 1356 1435 149233 1636 177 183 1906 2006 2099 2147 2200 2313 2324 2355 2833 2878 308 3082 3117 3146 3383 3458 3486 3554 3558 3565 3569 3596 3597 3605 3791 4049 4312 4314 4318 4582 4803 4855 5054 50848 5175 5345 5743 58191 5950 627 629 6347 6376 6414 6556 6775 7046 718 7422 7450 83700 942 9466	Homo sapiens (human)	Alliance of Genome Resources
DOID:4189	mutism	CNTNAP2	26047	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081210	autosomal recessive intellectual developmental disorder 46	NDST1	3340	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080672	fibrochondrogenesis 1	COL11A1	1301	Homo sapiens (human)	Alliance of Genome Resources
DOID:162	cancer Aliases: malignant neoplasm malignant tumor primary cancer	ACAP1 ACAP2 AKT1 AKT2 AKT3 ALK ARID1A ATM BRCA2 BUB3 CAND1 CAND2 CBX2 CBX4 CBX8 CCNE2 CD53 CDIPT CDS1 CDS2 CMPK1 CSF1R CTNNB1 CUX1 DDX17 DDX5 DEPDC5 DHDDS DLG1 DLL1 DLL4 DST DUT EAF1 EPAS1 FEN1 FGR FLT1 FLT3 FLT4 GNPNAT1 HACD1 HACD2 HCK HRAS HSP90AA1 HSP90AB1 IDH1 IDI1 ING3 IPO5 ITGA3 ITGA6 ITGA7 ITGB1 ITGB2 ITGB3 ITGB5 ITGB6 ITGB7 JUP KANK1 KANK2 KANK4 KDR KIT KRAS LATS1 LATS2 LIG1 LLGL1 LLGL2 LRRK2 LTK MACF1 MAP2K1 MAP2K2 MSH2 MTOR MVK MYC NFYA NIPBL NOP2 NOTCH1 NOTCH2 NOTCH3 NOTCH4 NRAS NSDHL PGK1 PGK2 PGM3 PHC1 PHC2 PHC3 PIGZ PIK3CB PIK3CD PINX1 PIP4K2A PIP4K2B PIP4K2C PIP5K1A PIP5K1B PIP5K1C POLD2 POLE PPP1CA PPP1CB PPP1CC PSMA1 PSMC2 PSMC5 PTEN RAB5A RAB5C RAF1 RB1 RBBP6 RBL2 RET RFT1 RING1 RNF2 SCRIB SETD2 SHMT1 SHMT2 SIN3A SIN3B SMARCA2 SMARCA4 SMARCC1 SMARCC2 SOD2 SQLE SRC SSRP1 STK4 SUMO1 TAOK1 TAOK2 TBX2 TBX3 TERT THG1L TOP1 TOP1MT TOP2A TOP2B TP53 TPI1 TRIP12 TSPAN10 TSPAN14 TSPAN17 TSPAN5 TTI1 TXNL4A TYMS UGP2 VBP1 YAP1 YARS1	10000 10098 1040 10413 10423 10521 10907 116447 120892 1436 1499 1523 163782 1655 1739 1854 1911 1912 201562 2034 207 208 2237 2268 23066 23189 2321 2322 2324 23309 23396 23499 23513 23527 238 2475 25836 25942 25959 26262 26524 28514 29072 3055 3265 3320 3326 3417 3422 3655 3675 3679 3688 3689 3690 3693 3694 3695 3728 3791 3815 3843 3845 3978 3993 3996 4058 4436 4598 4609 472 4800 4839 4851 4853 4854 4855 4893 50814 51727 5230 5232 5238 5291 5293 5305 5425 5426 54556 54567 54974 54984 5499 5500 5501 55832 5604 5605 5682 5701 5705 5728 57332 57551 5868 5878 5894 5925 5930 5934 5979 6015 6045 6470 6472 64841 6595 6597 6599 6601 6648 667 6713 6714 6749 675 6789 6909 6926 7015 7150 7153 7155 7157 7167 7298 7341 7360 7411 79837 79947 80012 80235 81619 8289 83882 8394 8395 8396 84733 8535 85403 8565 8760 9113 9134 9184 91869 9200 9320 9344 963 9675 9681 9744	Homo sapiens (human)	Alliance of Genome Resources
DOID:2986	IgA glomerulonephritis Aliases: Berger's IgA or IgG nephropathy Focal Glomerulonephritis IgA nephropathy primary IgA nephropathy segmental glomerulonephritis	ACE ACSM3 ADD1 ADD2 AGTR1 AGTR2 B4GALT1 C3 CCL2 CCR6 CD14 CFB CHGA CXCR2 FAS FCAR FCGR3A FN1 HAVCR1 HLA-DQB1 IGF1R IL1A IL1RN LCN2 MMP14 MTR MUC20 NGF PDE5A PLA2G7 SELE SELL SERPINB7 SHH SPRY2 STAT4 TLR1 TLR9 TNF TNFRSF1A TNFRSF1B TNFSF13B TNFSF14	10253 10673 1113 118 119 1235 1636 185 186 200958 2204 2214 2335 26762 2683 3119 3480 355 3552 3557 3579 3934 4323 4548 4803 54106 629 6296 6347 6401 6402 6469 6775 7096 7124 7132 7133 718 7941 8654 8710 8740 929	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080611	anterior segment dysgenesis 6	CYP1B1	1545	Homo sapiens (human)	Alliance of Genome Resources
DOID:1394	urinary schistosomiasis Aliases: Schistosoma Hematobium Infection Schistosoma haematobium Schistosoma hematobium infectious disease Schistosomiasis due to schistosoma haematobium Schistosomiasis of bladder Vesical schistosomiasis bladder Schistosomiasis cystitis with bilharziasis	CD1D CTLA4 IL5 STAT6	1493 3567 6778 912	Homo sapiens (human)	Alliance of Genome Resources

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