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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 **5501 - 5525** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲	Source
DOID:3407	carotid artery disease Aliases: disorder of carotid artery	AGER AGT AGTR1 B2M CD14 CD40LG CD63 CETP CTSS FGB HFE HGF HSPD1 HSPG2 IL10 LTA LTB4R LUM MMP1 MMP2 MMP8 MMP9 NAMPT PAPPA PGF PLA2G7 PPARG PRL PTGDS SELPLG SOD2 SREBF2 TGFB1 TLR4 TNFRSF11B UCP2 VCAM1 VWF	10135 1071 1241 1520 177 183 185 2244 3077 3082 3329 3339 3586 4049 4060 4312 4313 4317 4318 4982 5069 5228 5468 5617 567 5730 6404 6648 6721 7040 7099 7351 7412 7450 7941 929 959 967	Homo sapiens (human)	Alliance of Genome Resources
DOID:11870	Pick's disease Aliases: Dementia in Pick's disease LOBAR ATROPHY OF BRAIN PICK DISEASE OF BRAIN Pick disease	ATF2 CREB1 FOS MAP2K6 MAPT SNCA SNCB TARDBP	1385 1386 23435 2353 4137 5608 6620 6622	Homo sapiens (human)	Alliance of Genome Resources
DOID:10787	premature menopause Aliases: Menopause - premature Menopause praecox	ABCA1 HMGCR	19 3156	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111322	idiopathic generalized epilepsy 8 Aliases: EIG8	CASR	846	Homo sapiens (human)	Alliance of Genome Resources
DOID:1073	renal hypertension	AGTR1 CYP2C8 CYP2J2 HSPA8 IL6 MMP2 MMP9 NOS2 NOS3 NPPA NPPB TNF	1558 1573 185 3312 3569 4313 4318 4843 4846 4878 4879 7124	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060788	hypomyelinating leukodystrophy 10 Aliases: HLD10	PYCR2	29920	Homo sapiens (human)	Alliance of Genome Resources
DOID:4428	dyslexia	DNAAF4 DRD4 FOXP2	161582 1815 93986	Homo sapiens (human)	Alliance of Genome Resources
DOID:11656	cicatricial pemphigoid Aliases: Cicatricial pemphigoid with ocular involvement Ocular pemphigoid benign mucous membrane pemphigoid benign mucous membrane pemphigoid with ocular involvement ocular pemphigus	CLU HLA-DQB1 HLA-DRB1 IL1RN TNF	1191 3119 3123 3557 7124	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050876	Caroli disease	ANGPT2	285	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080716	infantile liver failure syndrome	NBAS RINT1	51594 60561	Homo sapiens (human)	Alliance of Genome Resources
DOID:1928	Williams-Beuren syndrome Aliases: Fanconi Schlesinger syndrome WBS	BAZ1B BUD23 CLIP2 EIF4H ELN FZD3 FZD9 GTF2I LIMK2 LOX NOP2 NSUN5 SRC	114049 2006 2969 3985 4015 4839 55695 6714 7458 7461 7976 8326 9031	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081183	autosomal recessive intellectual developmental disorder 7	TUSC3	7991	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:0050635	alternating hemiplegia of childhood Aliases: AHC	ATP1A2	477	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080608	anterior segment dysgenesis 3	FOXC1	2296	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111730	familial episodic pain syndrome 2 Aliases: FEPS2	SCN10A	6336	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110548	autosomal dominant nonsyndromic deafness 17 Aliases: DFNA17 autosomal dominant deafness 17	MYH9	4627	Homo sapiens (human)	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:0111634	autosomal recessive nonsyndromic deafness 99 Aliases: DFNB99 autosomal recessive deafness 99	TMEM132E	124842	Homo sapiens (human)	Alliance of Genome Resources
DOID:8893	psoriasis	ADRB2 AGER ALB ALOX12 ANXA1 APOE C2 CADM2 CAST CAT CCR2 CCR5 CCR6 CD40 CFB CFH CFI CLU COMT CTLA4 CYP1A1 ELN EPAS1 FABP5 FCGR2A FLT1 GBA1 HIF1A HLA-DQA1 HLA-DQB1 ICAM1 IL10 IL13 IL13RA1 IL17A IL20 IL23R IL25 IL2 IL3 IL4 IRAK1 ITGB2 KDR LTA LTBR MBL2 MKI67 NAMPT RBP4 SOD2 SPINT1 SPTLC2 STAT3 STAT4 TAP1 TGFB1 TLR2 TLR4 TNF TNFRSF1A TNFRSF1B TTC7A VEGFA	10135 1191 1234 1235 1312 149233 1493 154 1543 177 2006 2034 213 2171 2212 2321 239 253559 2629 301 3075 3091 3117 3119 3383 3426 348 3558 3562 3565 3586 3596 3597 3605 3654 3689 3791 4049 4055 4153 4288 50604 57217 5950 629 64806 6648 6692 6774 6775 6890 7040 7097 7099 7124 7132 7133 717 729230 7422 831 847 9517 958	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080673	fibrochondrogenesis 2	COL11A2	1302	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111917	spermatogenic failure 43 Aliases: SPGF43	SPEF2	79925	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110160	Charcot-Marie-Tooth disease axonal type 2T Aliases: AR-CMT2T CMT2T Charcot-Marie-Tooth neuropathy type 2T autosomal recessive axonal Charcot-Marie-Tooth disease type 2T	MME	4311	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110479	autosomal recessive nonsyndromic deafness 21 Aliases: DFNB21 autosomal recessive deafness 21	TECTA	7007	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060743	methylmalonic acidemia cblB type Aliases: methylmalonic aciduria cblB type methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB complementation type	MMAB	326625	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070242	primary coenzyme Q10 deficiency 5 Aliases: COQ10D5 coenzyme Q10 deficiency, primary, 5 encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome	COQ9	57017	Homo sapiens (human)	Alliance of Genome Resources

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