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 |
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DisGeNET | July 29, 2024 |
Disease ID ▼ | Disease Name | Gene Symbol | Gene ID | Gene Name | UniProt ID |
---|---|---|---|---|---|
C1261470 | Congenital meningocele | POMT2 | 29954 | protein O-mannosyltransferase 2 | Q9UKY4 |
C1261470 | Congenital meningocele | LFNG | 3955 | LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase | Q8NES3 |
C1261470 | Congenital meningocele | POMGNT1 | 55624 | protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Q8WZA1 |
C1261470 | Congenital meningocele | FKRP | 79147 | fukutin related protein | Q9H9S5 |
C1261470 | Congenital meningocele | LARGE1 | 9215 | LARGE xylosyl- and glucuronyltransferase 1 | O95461 |
C1261470 | Congenital meningocele | GMPPB | 29925 | GDP-mannose pyrophosphorylase B | Q9Y5P6 |
C1261470 | Congenital meningocele | SC5D | 6309 | sterol-C5-desaturase | O75845 |
C1260899 | Anemia, Diamond-Blackfan | CD38 | 952 | CD38 molecule | P28907 |
C1260881 | Allergic bronchitis | PLB1 | 151056 | phospholipase B1 | Q6P1J6 |
C1260881 | Allergic bronchitis | PLA2G2A | 5320 | phospholipase A2 group IIA | P14555 |
C1260881 | Allergic bronchitis | PLA2G10 | 8399 | phospholipase A2 group X | O15496 |
C1260881 | Allergic bronchitis | PLA2G4A | 5321 | phospholipase A2 group IVA | P47712 |
C1260881 | Allergic bronchitis | PLA2G1B | 5319 | phospholipase A2 group IB | P04054 |
C1260880 | Rhinorrhea | SDHD | 6392 | succinate dehydrogenase complex subunit D | O14521 |
C1260873 | Aortic valve disorder | ENPP1 | 5167 | ectonucleotide pyrophosphatase/phosphodiesterase 1 | P22413 |
C1260873 | Aortic valve disorder | KL | 9365 | klotho | Q9UEF7 |
C1260873 | Aortic valve disorder | ACAN | 176 | aggrecan | P16112 |
C1260873 | Aortic valve disorder | STS | 412 | steroid sulfatase | P08842 |
C1260873 | Aortic valve disorder | NT5E | 4907 | 5'-nucleotidase ecto | P21589 |
C1260873 | Aortic valve disorder | PLPP3 | 8613 | phospholipid phosphatase 3 | O14495 |
C1260873 | Aortic valve disorder | PLA2G7 | 7941 | phospholipase A2 group VII | Q13093 |
C1260402 | Splenic sequestration | SCD | 6319 | stearoyl-CoA desaturase | O00767 |
C1260396 | Alpha thalassemia intermedia | PC | 5091 | pyruvate carboxylase | P11498 |
C1260386 | Glucocorticoid-remediable aldosteronism | AKR1A1 | 10327 | aldo-keto reductase family 1 member A1 | P14550 |
C1260386 | Glucocorticoid-remediable aldosteronism | GPX1 | 2876 | glutathione peroxidase 1 | P07203 |
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Last updated: August 19, 2024