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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 |
|---|---|---|---|---|---|
| C0546264 | Congenital Fiber Type Disproportion | FKRP | 79147 | fukutin related protein | Q9H9S5 |
| C0546264 | Congenital Fiber Type Disproportion | CD38 | 952 | CD38 molecule | P28907 |
| C0546264 | Congenital Fiber Type Disproportion | CHKB | 1120 | choline kinase beta | Q9Y259 |
| C0546264 | Congenital Fiber Type Disproportion | MTMR14 | 64419 | myotubularin related protein 14 | Q8NCE2 |
| C0546264 | Congenital Fiber Type Disproportion | HACD1 | 9200 | 3-hydroxyacyl-CoA dehydratase 1 | B0YJ81 |
| C0546264 | Congenital Fiber Type Disproportion | MTM1 | 4534 | myotubularin 1 | Q13496 |
| C1720862 | Congenital Generalized Lipodystrophy Type 1 | AGPAT2 | 10555 | 1-acylglycerol-3-phosphate O-acyltransferase 2 | O15120 |
| C1720862 | Congenital Generalized Lipodystrophy Type 1 | AGPS | 8540 | alkylglycerone phosphate synthase | O00116 |
| C1720863 | Congenital Generalized Lipodystrophy Type 2 | AGPAT2 | 10555 | 1-acylglycerol-3-phosphate O-acyltransferase 2 | O15120 |
| C1720863 | Congenital Generalized Lipodystrophy Type 2 | PNPLA2 | 57104 | patatin like phospholipase domain containing 2 | Q96AD5 |
| C0018798 | Congenital Heart Defects | B3GAT3 | 26229 | beta-1,3-glucuronyltransferase 3 | O94766 |
| C0018798 | Congenital Heart Defects | PIGV | 55650 | phosphatidylinositol glycan anchor biosynthesis class V | Q9NUD9 |
| C0018798 | Congenital Heart Defects | FKRP | 79147 | fukutin related protein | Q9H9S5 |
| C0018798 | Congenital Heart Defects | ALG9 | 79796 | ALG9 alpha-1,2-mannosyltransferase | Q9H6U8 |
| C0018798 | Congenital Heart Defects | COG7 | 91949 | component of oligomeric golgi complex 7 | P83436 |
| C0018798 | Congenital Heart Defects | ENO1 | 2023 | enolase 1 | P06733 |
| C0018798 | Congenital Heart Defects | G6PC3 | 92579 | glucose-6-phosphatase catalytic subunit 3 | Q9BUM1 |
| C0018798 | Congenital Heart Defects | HYAL2 | 8692 | hyaluronidase 2 | Q12891 |
| C0018798 | Congenital Heart Defects | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C0018798 | Congenital Heart Defects | ALDH2 | 217 | aldehyde dehydrogenase 2 family member | P05091 |
| C0018798 | Congenital Heart Defects | HPGDS | 27306 | hematopoietic prostaglandin D synthase | O60760 |
| C0018798 | Congenital Heart Defects | NTM | 50863 | neurotrimin | Q9P121 |
| C0018798 | Congenital Heart Defects | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
| C0018798 | Congenital Heart Defects | SLC2A3 | 6515 | solute carrier family 2 member 3 | P11169 |
| C0018798 | Congenital Heart Defects | TNFRSF10C | 8794 | TNF receptor superfamily member 10c | O14798 |
