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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 |
|---|---|---|---|---|---|
| C1858991 | Childhood Ataxia with Central Nervous System Hypomyelinization | CHST11 | 50515 | carbohydrate sulfotransferase 11 | Q9NPF2 |
| C1858991 | Childhood Ataxia with Central Nervous System Hypomyelinization | APRT | 353 | adenine phosphoribosyltransferase | P07741 |
| C1858991 | Childhood Ataxia with Central Nervous System Hypomyelinization | ACOT12 | 134526 | acyl-CoA thioesterase 12 | Q8WYK0 |
| C1858991 | Childhood Ataxia with Central Nervous System Hypomyelinization | MICA | 100507436 | MHC class I polypeptide-related sequence A | Q29983 |
| C1858991 | Childhood Ataxia with Central Nervous System Hypomyelinization | SCP2 | 6342 | sterol carrier protein 2 | P22307 |
| C1858991 | Childhood Ataxia with Central Nervous System Hypomyelinization | SOAT1 | 6646 | sterol O-acyltransferase 1 | P35610 |
| C1858725 | NONCOMPACTION OF LEFT VENTRICULAR MYOCARDIUM, FAMILIAL ISOLATED, AUTOSOMAL DOMINANT 1 | SLC39A8 | 64116 | solute carrier family 39 member 8 | Q9C0K1 |
| C1858723 | Poikiloderma with Neutropenia | ENOSF1 | 55556 | enolase superfamily member 1 | Q7L5Y1 |
| C1858723 | Poikiloderma with Neutropenia | PLCB1 | 23236 | phospholipase C beta 1 | Q9NQ66 |
| C1858723 | Poikiloderma with Neutropenia | GPX1 | 2876 | glutathione peroxidase 1 | P07203 |
| C1858723 | Poikiloderma with Neutropenia | MAG | 4099 | myelin associated glycoprotein | P20916 |
| C1858723 | Poikiloderma with Neutropenia | GPX3 | 2878 | glutathione peroxidase 3 | P22352 |
| C1858712 | Spastic paraplegia 10, autosomal dominant | SLC33A1 | 9197 | solute carrier family 33 member 1 | O00400 |
| C1858712 | Spastic paraplegia 10, autosomal dominant | CPT1C | 126129 | carnitine palmitoyltransferase 1C | Q8TCG5 |
| C1858679 | CATARACT, AUTOSOMAL DOMINANT | STS | 412 | steroid sulfatase | P08842 |
| C1858558 | Rheumatoid Arthritis, Systemic Juvenile | COG6 | 57511 | component of oligomeric golgi complex 6 | Q9Y2V7 |
| C1858517 | SPINAL MUSCULAR ATROPHY WITH RESPIRATORY DISTRESS 1 | FUT4 | 2526 | fucosyltransferase 4 | P22083 |
| C1858328 | Bile acid synthesis defect, congenital, 4 | AMACR | 23600 | alpha-methylacyl-CoA racemase | Q9UHK6 |
| C1858278 | Charcot-Marie-Tooth disease, Type 4B2 | MTM1 | 4534 | myotubularin 1 | Q13496 |
| C1858278 | Charcot-Marie-Tooth disease, Type 4B2 | MTMR2 | 8898 | myotubularin related protein 2 | Q13614 |
| C1858142 | ICHTHYOSIS, LAMELLAR, 3 | CYP2B6 | 1555 | cytochrome P450 family 2 subfamily B member 6 | P20813 |
| C1858080 | Retinal Dystrophy, Early Onset Severe | ELOVL4 | 6785 | ELOVL fatty acid elongase 4 | Q9GZR5 |
| C1857941 | Brooke-Spiegler syndrome | XYLT1 | 64131 | xylosyltransferase 1 | Q86Y38 |
| C1857941 | Brooke-Spiegler syndrome | PNPLA6 | 10908 | patatin like phospholipase domain containing 6 | Q8IY17 |
| C1857747 | NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2 (disorder) | PLA2G6 | 8398 | phospholipase A2 group VI | O60733 |
