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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 |
|---|---|---|---|---|---|
| C0010674 | Cystic Fibrosis | GBA2 | 57704 | glucosylceramidase beta 2 | Q9HCG7 |
| C0010674 | Cystic Fibrosis | CALR | 811 | calreticulin | P27797 |
| C0010674 | Cystic Fibrosis | PARP9 | 83666 | poly(ADP-ribose) polymerase family member 9 | Q8IXQ6 |
| C0010674 | Cystic Fibrosis | CLEC6A | 93978 | C-type lectin domain containing 6A | Q6EIG7 |
| C0010674 | Cystic Fibrosis | CEACAM5 | 1048 | CEA cell adhesion molecule 5 | P06731 |
| C0010674 | Cystic Fibrosis | CEL | 1056 | carboxyl ester lipase | P19835 |
| C0010674 | Cystic Fibrosis | MASP2 | 10747 | mannan binding lectin serine peptidase 2 | O00187 |
| C0010674 | Cystic Fibrosis | PLB1 | 151056 | phospholipase B1 | Q6P1J6 |
| C0010674 | Cystic Fibrosis | CYP1A2 | 1544 | cytochrome P450 family 1 subfamily A member 2 | P05177 |
| C0010674 | Cystic Fibrosis | DCN | 1634 | decorin | P07585 |
| C0010674 | Cystic Fibrosis | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C0010674 | Cystic Fibrosis | FCGR3B | 2215 | Fc fragment of IgG receptor IIIb | O75015 |
| C0010674 | Cystic Fibrosis | FCN1 | 2219 | ficolin 1 | O00602 |
| C0010674 | Cystic Fibrosis | HPGDS | 27306 | hematopoietic prostaglandin D synthase | O60760 |
| C0010674 | Cystic Fibrosis | ANXA5 | 308 | annexin A5 | P08758 |
| C0010674 | Cystic Fibrosis | ICAM1 | 3383 | intercellular adhesion molecule 1 | P05362 |
| C0010674 | Cystic Fibrosis | ENPP7 | 339221 | ectonucleotide pyrophosphatase/phosphodiesterase 7 | Q6UWV6 |
| C0010674 | Cystic Fibrosis | INPP5D | 3635 | inositol polyphosphate-5-phosphatase D | Q92835 |
| C0010674 | Cystic Fibrosis | LCT | 3938 | lactase | P09848 |
| C0010674 | Cystic Fibrosis | MBL2 | 4153 | mannose binding lectin 2 | P11226 |
| C0010674 | Cystic Fibrosis | STS | 412 | steroid sulfatase | P08842 |
| C0010674 | Cystic Fibrosis | ACHE | 43 | acetylcholinesterase (Cartwright blood group) | P22303 |
| C0010674 | Cystic Fibrosis | ISYNA1 | 51477 | inositol-3-phosphate synthase 1 | Q9NPH2 |
| C0010674 | Cystic Fibrosis | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
| C0010674 | Cystic Fibrosis | PLA2G2A | 5320 | phospholipase A2 group IIA | P14555 |
