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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 |
|---|---|---|---|---|---|
| C1531647 | Cerebral ventriculomegaly | FKTN | 2218 | fukutin | O75072 |
| C1531647 | Cerebral ventriculomegaly | POMT2 | 29954 | protein O-mannosyltransferase 2 | Q9UKY4 |
| C1531647 | Cerebral ventriculomegaly | POMGNT1 | 55624 | protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Q8WZA1 |
| C1531647 | Cerebral ventriculomegaly | FKRP | 79147 | fukutin related protein | Q9H9S5 |
| C1531647 | Cerebral ventriculomegaly | LARGE1 | 9215 | LARGE xylosyl- and glucuronyltransferase 1 | O95461 |
| C1531647 | Cerebral ventriculomegaly | POMGNT2 | 84892 | protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) | Q8NAT1 |
| C1531647 | Cerebral ventriculomegaly | GBA | 2629 | glucosylceramidase beta | P04062 |
| C1531647 | Cerebral ventriculomegaly | GLB1 | 2720 | galactosidase beta 1 | P16278 |
| C1531647 | Cerebral ventriculomegaly | SUMF1 | 285362 | sulfatase modifying factor 1 | Q8NBK3 |
| C1531647 | Cerebral ventriculomegaly | COG6 | 57511 | component of oligomeric golgi complex 6 | Q9Y2V7 |
| C1531647 | Cerebral ventriculomegaly | COG8 | 84342 | component of oligomeric golgi complex 8 | Q96MW5 |
| C1531647 | Cerebral ventriculomegaly | CPT2 | 1376 | carnitine palmitoyltransferase 2 | P23786 |
| C1531647 | Cerebral ventriculomegaly | TMTC3 | 160418 | transmembrane O-mannosyltransferase targeting cadherins 3 | Q6ZXV5 |
| C1531647 | Cerebral ventriculomegaly | FBP1 | 2203 | fructose-bisphosphatase 1 | P09467 |
| C1531647 | Cerebral ventriculomegaly | GMPPB | 29925 | GDP-mannose pyrophosphorylase B | Q9Y5P6 |
| C1531647 | Cerebral ventriculomegaly | PDHA1 | 5160 | pyruvate dehydrogenase E1 subunit alpha 1 | P08559 |
| C1531647 | Cerebral ventriculomegaly | MYORG | 57462 | myogenesis regulating glycosidase (putative) | Q6NSJ0 |
| C1531647 | Cerebral ventriculomegaly | SMC3 | 9126 | structural maintenance of chromosomes 3 | Q9UQE7 |
| C1531647 | Cerebral ventriculomegaly | FIG4 | 9896 | FIG4 phosphoinositide 5-phosphatase | Q92562 |
| C1531647 | Cerebral ventriculomegaly | AGPAT2 | 10555 | 1-acylglycerol-3-phosphate O-acyltransferase 2 | O15120 |
| C1531647 | Cerebral ventriculomegaly | DHCR7 | 1717 | 7-dehydrocholesterol reductase | Q9UBM7 |
| C1531647 | Cerebral ventriculomegaly | NTNG1 | 22854 | netrin G1 | Q9Y2I2 |
| C1531647 | Cerebral ventriculomegaly | HIBCH | 26275 | 3-hydroxyisobutyryl-CoA hydrolase | Q6NVY1 |
| C1531647 | Cerebral ventriculomegaly | GLUL | 2752 | glutamate-ammonia ligase | P15104 |
| C1531647 | Cerebral ventriculomegaly | NGLY1 | 55768 | N-glycanase 1 | Q96IV0 |
