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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 **15326 - 15350** of **15957** in total

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Disease ID	Disease Name	Gene Symbol ▼	Gene ID	Organism	Source
DOID:0110212	Charcot-Marie-Tooth disease X-linked recessive 4 Aliases: CMT4X CMTX4 Charcot-Marie-Tooth disease with deafness and mental retardation Cowchock syndrome NADMR NAMSD X-linked Charcot-Marie-Tooth disease type 4 axonal motor sensory neuropathy with deafness and mental retardation	AIFM1	9131	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111502	combined oxidative phosphorylation deficiency 6 Aliases: COXPD6 Mitochondrial encephalomyopathy due to COXPD6 Mitochondrial encephalomyopathy due to combined oxidative phosphorylation defect 6 severe X-linked mitochondrial encephalomyopathy	AIFM1	9131	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060536	mitochondrial complex I deficiency Aliases: isolated NADH-CoQ reductase deficiency isolated NADH-coenzyme Q reductase deficiency isolated NADH-ubiquinone reductase deficiency isolated mitochondrial respiratory chain complex I deficiency	AIFM1 ELAC2 NDUFS1 SLC25A10	1468 4719 60528 9131	Homo sapiens (human)	Alliance of Genome Resources
DOID:5327	retinal detachment	AIFM1 APOA4 CCL2 CFH COL2A1 EDN1 EPO EPOR FAS FGFR1 IL6 NTRK1 PRKCQ TNF	1280 1906 2056 2057 2260 3075 337 355 3569 4914 5588 6347 7124 9131	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080628	alopecia-mental retardation syndrome 1	AHSG	197	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112142	retinitis pigmentosa 85 Aliases: RP85	AHR	196	Homo sapiens (human)	Alliance of Genome Resources
DOID:9649	congenital nystagmus	AHR MYO7A ROBO1	196 4647 6091	Homo sapiens (human)	Alliance of Genome Resources
DOID:417	autoimmune disease Aliases: autoimmune hypersensitivity disease hypersensitivity reaction type II disease	AHNAK B2M C9orf72 CD200 GPR132 HLA-DQA1 HLA-DQB1 HLA-DRB1 IDH1 NOD2 PARP1 SIAE	142 203228 29933 3117 3119 3123 3417 4345 54414 567 64127 79026	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070055	Xia-Gibbs Syndrome Aliases: MRD25 autosomal dominant mental retardation 25	AHDC1	27245	Homo sapiens (human)	Alliance of Genome Resources
DOID:8455	pyridoxine deficiency anemia Aliases: vitamin B6 deficiency syndrome	AHCY	191	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111039	hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase Aliases: hypermethioninemia due to S-adenosylhomocysteine hydrolase deficiency psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency	AHCY	191	Homo sapiens (human)	Alliance of Genome Resources
DOID:9279	hyperhomocysteinemia	AHCY APOE ATP1A1 ATP1A2 BCHE CBS CCL2 DYRK1A ECE1 EDNRA F10 F12 F2 F8 G6PD GPX1 GRIA1 GRIN2A GRIN2B ICAM1 MTR NGF NPPB SOD2	1859 1889 1909 191 2147 2157 2159 2161 2539 2876 2890 2903 2904 3383 348 4548 476 477 4803 4879 590 6347 6648 875	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111670	primary hyperoxaluria type 1 Aliases: HP1 alanine-glyoxylate aminotransferase deficiency glycolic aciduria hepatic AGT deficiency oxalosis I peroxisomal alanine-glyoxylate aminotransferase deficiency serine pyruvate aminotransferase deficiency	AGXT	189	Homo sapiens (human)	Alliance of Genome Resources
DOID:2977	primary hyperoxaluria	AGXT GRHPR HOGA1	112817 189 9380	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: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:3891	placental insufficiency	AGTR1 CYP19A1 EMP2 EPO GRIN1 GRIN2A GRIN2B ITGA2 PDX1 PPARGC1A SERPINE1	10891 1588 185 2013 2056 2902 2903 2904 3651 3673 5054	Homo sapiens (human)	Alliance of Genome Resources
DOID:9620	vesicoureteral reflux Aliases: vesico-ureteral reflux	AGTR1 AGTR2 CSF1 HAVCR1 IFNG IGF1R ROBO2 TNXB UPK3A	1435 185 186 26762 3458 3480 6092 7148 7380	Homo sapiens (human)	Alliance of Genome Resources
DOID:11111	hydronephrosis	AGT HAVCR1 LCN2 TBXAS1	183 26762 3934 6916	Homo sapiens (human)	Alliance of Genome Resources
DOID:11716	prediabetes syndrome Aliases: Prediabetes impaired glucose tolerance prediabetic state	AGT CALCA CCR2 GCG HLA-DRA IL6 KCNJ11 PPARGC1A PTPRN2 RELB SIRT3 SLC4A2 SLC4A8 UCP3	10891 183 23410 2641 3122 3569 3767 5799 5971 6522 729230 7352 796 9498	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:0080322	polycystic kidney disease	AGT ATF1 C9 CFB CTSB CTSH DLL4 EPAS1 GANAB GNAS GPBAR1 HDAC6 HIF1A KIF3A MTOR MYC NOS3 NPPB PKD1 PKD2 PLA2G4A PPARG PTGS1 PTGS2 PTMA SOD1 STAM2 TNC XYLT2	10013 10254 11127 1508 1512 151306 183 2034 23193 2475 2778 3091 3371 4609 466 4846 4879 5310 5311 5321 54567 5468 5742 5743 5757 629 64132 6647 735	Homo sapiens (human)	Alliance of Genome Resources
DOID:13884	sick sinus syndrome Aliases: sinus node infection	AGT ANK2 HCN1 HCN4 SCN5A	10021 183 287 348980 6331	Homo sapiens (human)	Alliance of Genome Resources
DOID:10808	gastric ulcer Aliases: acute gastric ulcer with haemorrhage and perforation acute gastric ulcer with hemorrhage AND with perforation but without obstruction acute gastric ulcer with hemorrhage and obstruction acute gastric ulcer with hemorrhage and perforation acute gastric ulcer with hemorrhage and perforation, with obstruction acute gastric ulcer with hemorrhage and perforation, without mention of obstruction acute gastric ulcer with hemorrhage, with obstruction acute gastric ulcer with hemorrhage, with perforation AND with obstruction acute gastric ulcer with perforation acute gastric ulcer with perforation AND obstruction acute gastric ulcer with perforation, with obstruction acute gastric ulcer without hemorrhage and without perforation acute gastric ulcer without hemorrhage, without perforation AND without obstruction acute gastric ulcer without mention of hemorrhage or perforation, without mention of obstruction bleeding acute gastric ulcer chronic gastric ulcer without hemorrhage AND without perforation chronic gastric ulcer without hemorrhage AND without perforation but with obstruction chronic gastric ulcer without mention of hemorrhage or perforation, with obstruction	AGT ANGPT1 ANGPT2 BAD CAT CBLIF CFTR COL18A1 F13A1 FAS FASLG FOS FOXO4 HRH3 IDUA IL25 MMP13 MMP2 MMP3 MMP9 MUC5AC MUC6 NOS3 OXTR PTGER1 PTGS2 TEK TFF1 TIMP1	1080 11255 183 2162 2353 2694 284 285 3425 355 356 4303 4313 4314 4318 4322 4586 4588 4846 5021 572 5731 5743 64806 7010 7031 7076 80781 847	Homo sapiens (human)	Alliance of Genome Resources
DOID:11049	meconium aspiration syndrome Aliases: Neonatal aspiration of meconium meconium aspiration	AGT AGTR2 ATF2	1386 183 186	Homo sapiens (human)	Alliance of Genome Resources

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