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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 **876 - 900** of **15957** in total

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Disease ID	Disease Name	Gene Symbol ▲	Gene ID	Organism	Source
DOID:5679	retinal disease	APOE AQP4 CAT CEPT1 CHPT1 GFAP GRK1 IL10 MAP2K3 PISD PLCB4 PRPH2 THY1	10390 23761 2670 348 3586 361 5332 5606 56994 5961 6011 7070 847	Homo sapiens (human)	Alliance of Genome Resources
DOID:10003	sensorineural hearing loss Aliases: High Frequency Hearing Loss High frequency deafness Perceptive deafness Perceptive hearing loss Perceptive hearing loss or deafness Sensorineural Deafness Sensory hearing loss central hearing loss high-frequency hearing loss	APOE ATP1A1 ATP1B1 CAT DIAPH1 DNAAF4 DNAH17 DNAH9 EDNRB EYA4 F2 F5 GATA3 HLA-B HLA-DRB1 IFNG IL2 ITGA2 MBL2 MYH14 MYH9 MYO15A MYO1A MYO6 MYO7A NGF PSMC3 PTGDS SCARB1 SLC12A2 SLC44A4 SLC7A14 SLITRK6 SOD2 STRC TECTA TMPRSS3 TNF WFS1 WHRN	161497 161582 1729 1770 1910 2070 2147 2153 25861 2625 3106 3123 3458 348 3558 3673 4153 4627 4640 4646 4647 476 4803 481 51168 5702 5730 57709 64699 6558 6648 7007 7124 7466 79784 80736 84189 847 8632 949	Homo sapiens (human)	Alliance of Genome Resources
DOID:12894	Sjogren's syndrome Aliases: Sicca syndrome Sjogren syndrome xerodermosteosis	APOE BDNF BST2 CAST CCR5 CCR7 CD40LG CTLA4 CYP19A1 CYP1A1 E2F1 FAS GDNF HLA-DQA1 HLA-DQB1 HLA-DRB1 HNRNPH1 ICAM1 IFNG IL10 IL13 IL1RN IL23R IL2 IL2RA IL4 IL6 LTA MMP3 MMP9 MUC16 MUC19 MUC5AC NEFL PON1 REG1A SATB1 SELP ST14 STAT4 TGFB1 THBS1 TNF TNFSF13B TRAF3IP2 VIM	10673 10758 1234 1236 149233 1493 1543 1588 1869 2668 283463 3117 3119 3123 3187 3383 3458 348 355 3557 3558 3559 3565 3569 3586 3596 4049 4314 4318 4586 4747 5444 5967 627 6304 6403 6768 6775 684 7040 7057 7124 7431 831 94025 959	Homo sapiens (human)	Alliance of Genome Resources
DOID:13550	angle-closure glaucoma Aliases: ACG - Angle-closure glaucoma Angle Closure Glaucoma Closed angle glaucoma Narrow cleft glaucoma primary open-angle glaucoma with narrow angles	APOE CAT EDN1 HGF LOXL1 MMP9 MUC5AC NOS3 TFAP2B	1906 3082 348 4016 4318 4586 4846 7021 847	Homo sapiens (human)	Alliance of Genome Resources
DOID:10211	cholelithiasis	APOE CCKAR CFTR CYP17A1 UGT1A1	1080 1586 348 54658 886	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110014	age related macular degeneration 1 Aliases: ARMD1 age related maculopathy 1	APOE CFHR1 CFHR3 HMCN1 VLDLR	10878 3078 348 7436 83872	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080158	herpes simplex virus keratitis Aliases: dendritic keratitis	APOE IL1RN TLR4	348 3557 7099	Homo sapiens (human)	Alliance of Genome Resources
DOID:8566	herpes simplex Aliases: Herpesvirus hominis disease	APOE IRF5 MBL2	348 3663 4153	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110042	Alzheimer's disease 3 Aliases: AD3 Alzheimer disease 3 Alzheimer disease 3, early onset Alzheimer disease familial 3	APOE	348	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050639	primary cutaneous amyloidosis Aliases: PCA familial primary localized cutaneous amyloidosis	APOE	348	Homo sapiens (human)	Alliance of Genome Resources
DOID:4423	sea-blue histiocytosis Aliases: Sea-blue histiocyte syndrome	APOE	348	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110035	Alzheimer's disease 2 Aliases: AD2 Alzheimer disease 2, late onset Alzheimer disease associated with APOE4 Alzheimer disease-2	APOE	348	Homo sapiens (human)	Alliance of Genome Resources
DOID:4449	macular retinal edema Aliases: macular edema macular oedema macular retinal oedema	APOH CCL2 CLU EPO FLT1 HIF1A IL6 KDR NOS3 SERPINF1 VEGFA	1191 2056 2321 3091 350 3569 3791 4846 5176 6347 7422	Homo sapiens (human)	Alliance of Genome Resources
DOID:2988	antiphospholipid syndrome Aliases: APS antiphospholipid antibody syndrome	APOH CCL5 CD40LG HLA-DQA1 HLA-DQB1 HLA-DRB1 PLAT PROC	3117 3119 3123 350 5327 5624 6352 959	Homo sapiens (human)	Alliance of Genome Resources
DOID:225	syndrome	APOO CDC42 NSD1 NSD2 NSD3 SCAF4 SCAF8 SVIP ZDHHC15	158866 22828 258010 54904 57466 64324 7468 79135 998	Homo sapiens (human)	Alliance of Genome Resources
DOID:11758	iron deficiency anemia	APP ATP7A C1QA FN1 GPX1 HFE HP IL6 IREB2 ITGA2 PON1 SLC11A2 SLC40A1 SLC4A1 TF TFRC TNF	2335 2876 30061 3077 3240 351 3569 3658 3673 4891 538 5444 6521 7018 7037 712 7124	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070028	APP-related cerebral amyloid angiopathy Aliases: Amyloidosis, Cerebroarterial, App-Related Amyloidosis, Hereditary, With Cerebral Hemorrhage, Dutch Variant Cerebral Amyloid Angiopathy, App-Related, Arctic Variant Cerebral Amyloid Angiopathy, App-Related, Dutch Variant Cerebral Amyloid Angiopathy, App-Related, Flemish Variant Cerebral Amyloid Angiopathy, App-Related, Iowa Variant Cerebral Amyloid Angiopathy, App-Related, Italian Variant HCHWAD	APP	351	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111111	maturity-onset diabetes of the young type 14 Aliases: MODY14	APPL1	26060	Homo sapiens (human)	Alliance of Genome Resources
DOID:1919	Lesch-Nyhan syndrome Aliases: Complete hypoxanthine-guanine phosphoribosyltransferase deficiency HG-PRT deficiency Hypoxanthine-guanine phosphoribosyltransferase deficiency Hypoxanthine-guanine-phosphoribosyltransferase deficiency Lesch - Nyhan syndrome X-linked hyperuricemia deficiency of IMP pyrophosphorylase hypoxanthine guanine phosphoribosyltransferase deficiency	APRT HPRT1	3251 353	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060350	adenine phosphoribosyltransferase deficiency Aliases: 2,8-dihydroxyadenine urolithiasis APRT deficiency	APRT	353	Homo sapiens (human)	Alliance of Genome Resources
DOID:1919	Lesch-Nyhan syndrome Aliases: Complete hypoxanthine-guanine phosphoribosyltransferase deficiency HG-PRT deficiency Hypoxanthine-guanine phosphoribosyltransferase deficiency Hypoxanthine-guanine-phosphoribosyltransferase deficiency Lesch - Nyhan syndrome X-linked hyperuricemia deficiency of IMP pyrophosphorylase hypoxanthine guanine phosphoribosyltransferase deficiency	APT1 APT2	852051 854986	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0060350	adenine phosphoribosyltransferase deficiency Aliases: 2,8-dihydroxyadenine urolithiasis APRT deficiency	APT1 APT2	852051 854986	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:14784	olivopontocerebellar atrophy Aliases: Dejerine-Thomas syndrome Thomas' syndrome WADIA-SWAMI SYNDROME	APTX	54840	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050754	ataxia with oculomotor apraxia type 1	APTX	54840	Homo sapiens (human)	Alliance of Genome Resources
DOID:1727	retinal vein occlusion Aliases: Occlusion, of retinal vein	AQP1 AQP4 F2 F5 IL6 ITGA2 MMP2 NRP1 PON1 SERPINE1 SERPINF1 VEGFA VEGFB	2147 2153 3569 358 361 3673 4313 5054 5176 5444 7422 7423 8829	Homo sapiens (human)	Alliance of Genome Resources

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