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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 |
|---|---|---|---|---|---|
| C4015184 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 12 | FKRP | 79147 | fukutin related protein | Q9H9S5 |
| C4015184 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 12 | LARGE1 | 9215 | LARGE xylosyl- and glucuronyltransferase 1 | O95461 |
| C4015095 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 7 | CRPPA | 729920 | CDP-L-ribitol pyrophosphorylase A | A4D126 |
| C4014767 | HYPERLIPOPROTEINEMIA, TYPE ID | GPIHBP1 | 338328 | glycosylphosphatidylinositol anchored high density lipoprotein binding protein 1 | Q8IV16 |
| C4014516 | DIARRHEA 7, PROTEIN-LOSING ENTEROPATHY TYPE | DGAT1 | 8694 | diacylglycerol O-acyltransferase 1 | O75907 |
| C4014430 | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21 | CACNA2D2 | 9254 | calcium voltage-gated channel auxiliary subunit alpha2delta 2 | Q9NY47 |
| C4014343 | MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42 | PGAP1 | 80055 | post-GPI attachment to proteins inositol deacylase 1 | Q75T13 |
| C4014294 | DESBUQUOIS DYSPLASIA 2 | XYLT1 | 64131 | xylosyltransferase 1 | Q86Y38 |
| C4014261 | SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 16 | SUMF1 | 285362 | sulfatase modifying factor 1 | Q8NBK3 |
| C4014261 | SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 16 | CNTN4 | 152330 | contactin 4 | Q8IWV2 |
| C4011754 | Nevus, Keratinocytic, Nonepidermolytic | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C3890205 | Polyarticular Juvenile Idiopathic Arthritis, Rheumatoid Factor Negative | COG6 | 57511 | component of oligomeric golgi complex 6 | Q9Y2V7 |
| C3888896 | Wet age-related macular degeneration | PNPLA2 | 57104 | patatin like phospholipase domain containing 2 | Q96AD5 |
| C3888417 | CATARACT 5, MULTIPLE TYPES | COG4 | 25839 | component of oligomeric golgi complex 4 | Q9H9E3 |
| C3888391 | Nonnuclear polymorphic congenital cataract | IDH1 | 3417 | isocitrate dehydrogenase (NADP(+)) 1 | O75874 |
| C3888391 | Nonnuclear polymorphic congenital cataract | LGALS1 | 3956 | galectin 1 | P09382 |
| C3888391 | Nonnuclear polymorphic congenital cataract | SDHD | 6392 | succinate dehydrogenase complex subunit D | O14521 |
| C3888391 | Nonnuclear polymorphic congenital cataract | SDHC | 6391 | succinate dehydrogenase complex subunit C | Q99643 |
| C3888391 | Nonnuclear polymorphic congenital cataract | SDHB | 6390 | succinate dehydrogenase complex iron sulfur subunit B | P21912 |
| C3888391 | Nonnuclear polymorphic congenital cataract | CPT1A | 1374 | carnitine palmitoyltransferase 1A | P50416 |
| C3888391 | Nonnuclear polymorphic congenital cataract | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C3888317 | Sialidosis, type 2 | NEU1 | 4758 | neuraminidase 1 | Q99519 |
| C3888317 | Sialidosis, type 2 | CHIT1 | 1118 | chitinase 1 | Q13231 |
| C3888239 | HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1 | COMT | 1312 | catechol-O-methyltransferase | P21964 |
| C3888198 | BESTROPHINOPATHY, AUTOSOMAL RECESSIVE | ACE | 1636 | angiotensin I converting enzyme | P12821 |
