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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 |
|---|---|---|---|---|---|
| C1527407 | Eosinophilic Pneumonia | PARP9 | 83666 | poly(ADP-ribose) polymerase family member 9 | Q8IXQ6 |
| C1527407 | Eosinophilic Pneumonia | CEL | 1056 | carboxyl ester lipase | P19835 |
| C1527407 | Eosinophilic Pneumonia | SLC27A5 | 10998 | solute carrier family 27 member 5 | Q9Y2P5 |
| C1531394 | Perinatal jaundice | UGT1A1 | 54658 | UDP glucuronosyltransferase family 1 member A1 | P22309 |
| C1531647 | Cerebral ventriculomegaly | POMT1 | 10585 | protein O-mannosyltransferase 1 | Q9Y6A1 |
| C1531647 | Cerebral ventriculomegaly | CHST14 | 113189 | carbohydrate sulfotransferase 14 | Q8NCH0 |
| C1531647 | Cerebral ventriculomegaly | B3GLCT | 145173 | beta 3-glucosyltransferase | Q6Y288 |
| C1531647 | Cerebral ventriculomegaly | EXT1 | 2131 | exostosin glycosyltransferase 1 | Q16394 |
| C1531647 | Cerebral ventriculomegaly | PIGN | 23556 | phosphatidylinositol glycan anchor biosynthesis class N | O95427 |
| 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 |
