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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 |
|---|---|---|---|---|---|
| C3469521 | FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) | CD48 | 962 | CD48 molecule | P09326 |
| C3469521 | FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) | PFKFB3 | 5209 | 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3 | Q16875 |
| C3469521 | FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) | CYP2B6 | 1555 | cytochrome P450 family 2 subfamily B member 6 | P20813 |
| C3469521 | FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) | ME1 | 4199 | malic enzyme 1 | P48163 |
| C3469521 | FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) | PRKAA2 | 5563 | protein kinase AMP-activated catalytic subunit alpha 2 | P54646 |
| C3469521 | FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C3469521 | FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) | SOAT1 | 6646 | sterol O-acyltransferase 1 | P35610 |
| C3280914 | FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3 | PLCG2 | 5336 | phospholipase C gamma 2 | P16885 |
| C2674616 | FAMILIAL ADENOMATOUS POLYPOSIS, ATTENUATED (disorder) | PLB1 | 151056 | phospholipase B1 | Q6P1J6 |
| C2674616 | FAMILIAL ADENOMATOUS POLYPOSIS, ATTENUATED (disorder) | PLA2G2A | 5320 | phospholipase A2 group IIA | P14555 |
| C2674616 | FAMILIAL ADENOMATOUS POLYPOSIS, ATTENUATED (disorder) | MUTYH | 4595 | mutY DNA glycosylase | Q9UIF7 |
| C2674616 | FAMILIAL ADENOMATOUS POLYPOSIS, ATTENUATED (disorder) | NTHL1 | 4913 | nth like DNA glycosylase 1 | P78549 |
| C2674616 | FAMILIAL ADENOMATOUS POLYPOSIS, ATTENUATED (disorder) | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C4225157 | FAMILIAL ADENOMATOUS POLYPOSIS 3 | NTHL1 | 4913 | nth like DNA glycosylase 1 | P78549 |
| C0342245 | Eye disorder due to diabetes mellitus | AKR1B1 | 231 | aldo-keto reductase family 1 member B | P15121 |
| C0015414 | Eye Neoplasms | LIPG | 9388 | lipase G, endothelial type | Q9Y5X9 |
| C0015403 | Eye Infection | ART4 | 420 | ADP-ribosyltransferase 4 (Dombrock blood group) | Q93070 |
| C0015393 | Eye Abnormalities | POMT1 | 10585 | protein O-mannosyltransferase 1 | Q9Y6A1 |
| C0015393 | Eye Abnormalities | POMGNT1 | 55624 | protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Q8WZA1 |
| C0015393 | Eye Abnormalities | NEU1 | 4758 | neuraminidase 1 | Q99519 |
| C0015393 | Eye Abnormalities | SRD5A3 | 79644 | steroid 5 alpha-reductase 3 | Q9H8P0 |
| C0015393 | Eye Abnormalities | FREM1 | 158326 | FRAS1 related extracellular matrix 1 | Q5H8C1 |
| C0015393 | Eye Abnormalities | NDST1 | 3340 | N-deacetylase and N-sulfotransferase 1 | P52848 |
| C0015393 | Eye Abnormalities | DAG1 | 1605 | dystroglycan 1 | Q14118 |
| C0015393 | Eye Abnormalities | CRPPA | 729920 | CDP-L-ribitol pyrophosphorylase A | A4D126 |
