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DisGeNET
DisGeNET is a knowledge management platform that integrates and standardizes the data of genes and mutations related to diseases from multiple sources. It covers entire range of human disease.
| Source | Last Updated |
|---|---|
| DisGeNET | July 29, 2024 |
| Disease ID ▼ | Disease Name | Gene Symbol | Gene ID | Gene Name | UniProt ID |
|---|---|---|---|---|---|
| C3831784 | Acute monocytic/monoblastic leukemia | NCAM1 | 4684 | neural cell adhesion molecule 1 | P13591 |
| C3812396 | Chronic idiopathic pulmonary fibrosis | SLC2A10 | 81031 | solute carrier family 2 member 10 | O95528 |
| C3810313 | DOWLING-DEGOS DISEASE 4 | POGLUT1 | 56983 | protein O-glucosyltransferase 1 | Q8NBL1 |
| C3810100 | FANCONI RENOTUBULAR SYNDROME 3 | EHHADH | 1962 | enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase | Q08426 |
| C3810062 | Congenital disorder of glycosylation type 1w | STT3A | 3703 | STT3 oligosaccharyltransferase complex catalytic subunit A | P46977 |
| C3809824 | PARKINSON DISEASE 20, EARLY-ONSET | SYNJ1 | 8867 | synaptojanin 1 | O43426 |
| C3809369 | PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 2 | PIGT | 51604 | phosphatidylinositol glycan anchor biosynthesis class T | Q969N2 |
| C3809356 | MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3 | PIGT | 51604 | phosphatidylinositol glycan anchor biosynthesis class T | Q969N2 |
| C3809221 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14 | POMT1 | 10585 | protein O-mannosyltransferase 1 | Q9Y6A1 |
| C3809221 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14 | B4GAT1 | 11041 | beta-1,4-glucuronyltransferase 1 | O43505 |
| C3809221 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14 | FKTN | 2218 | fukutin | O75072 |
| C3809221 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14 | POMGNT1 | 55624 | protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Q8WZA1 |
| C3809221 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14 | FKRP | 79147 | fukutin related protein | Q9H9S5 |
| C3809221 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14 | LARGE1 | 9215 | LARGE xylosyl- and glucuronyltransferase 1 | O95461 |
| C3809221 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14 | GMPPB | 29925 | GDP-mannose pyrophosphorylase B | Q9Y5P6 |
| C3809216 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14 | GMPPB | 29925 | GDP-mannose pyrophosphorylase B | Q9Y5P6 |
| C3809210 | EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 2 | B3GALT6 | 126792 | beta-1,3-galactosyltransferase 6 | Q96L58 |
| C3809147 | DOWLING-DEGOS DISEASE 2 | POFUT1 | 23509 | protein O-fucosyltransferase 1 | Q9H488 |
| C3809092 | ADAMS-OLIVER SYNDROME 4 | EOGT | 285203 | EGF domain specific O-linked N-acetylglucosamine transferase | Q5NDL2 |
| C3809042 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 13 | B4GAT1 | 11041 | beta-1,4-glucuronyltransferase 1 | O43505 |
| C3808991 | NGLY1 deficiency | PGM1 | 5236 | phosphoglucomutase 1 | P36871 |
| C3808991 | NGLY1 deficiency | ENGASE | 64772 | endo-beta-N-acetylglucosaminidase | Q8NFI3 |
| C3808991 | NGLY1 deficiency | NGLY1 | 55768 | N-glycanase 1 | Q96IV0 |
| C3808986 | HYPOGONADOTROPIC HYPOGONADISM 21 WITH OR WITHOUT ANOSMIA | MACROD2 | 140733 | mono-ADP ribosylhydrolase 2 | A1Z1Q3 |
| C3808964 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 12 | POMK | 84197 | protein O-mannose kinase | Q9H5K3 |
