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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 |
|---|---|---|---|---|---|
| C2931013 | Cystinosis, benign, nonnephropathic | CTNS | 1497 | cystinosin, lysosomal cystine transporter | O60931 |
| C3537440 | Cystinosis, Infantile Nephropathic | CTNS | 1497 | cystinosin, lysosomal cystine transporter | O60931 |
| C4316899 | Cystinosis | NAGLU | 4669 | N-acetyl-alpha-glucosaminidase | P54802 |
| C4316899 | Cystinosis | APRT | 353 | adenine phosphoribosyltransferase | P07741 |
| C4316899 | Cystinosis | CTNS | 1497 | cystinosin, lysosomal cystine transporter | O60931 |
| C4316899 | Cystinosis | LGALS3 | 3958 | galectin 3 | P17931 |
| C4316899 | Cystinosis | PRKAA2 | 5563 | protein kinase AMP-activated catalytic subunit alpha 2 | P54646 |
| C0022679 | Cystic kidney | POMT2 | 29954 | protein O-mannosyltransferase 2 | Q9UKY4 |
| C0022679 | Cystic kidney | INPP5E | 56623 | inositol polyphosphate-5-phosphatase E | Q9NRR6 |
| C0022679 | Cystic kidney | PKD1 | 5310 | polycystin 1, transient receptor potential channel interacting | P98161 |
| C0022679 | Cystic kidney | PKD2 | 5311 | polycystin 2, transient receptor potential cation channel | Q13563 |
| C1691228 | Cystic Kidney Diseases | ALG8 | 79053 | ALG8 alpha-1,3-glucosyltransferase | Q9BVK2 |
| C1691228 | Cystic Kidney Diseases | ALG9 | 79796 | ALG9 alpha-1,2-mannosyltransferase | Q9H6U8 |
| C1691228 | Cystic Kidney Diseases | ARF4 | 378 | ADP ribosylation factor 4 | P18085 |
| C1691228 | Cystic Kidney Diseases | UMOD | 7369 | uromodulin | P07911 |
| C1691228 | Cystic Kidney Diseases | PKD1 | 5310 | polycystin 1, transient receptor potential channel interacting | P98161 |
| C1691228 | Cystic Kidney Diseases | PKD2 | 5311 | polycystin 2, transient receptor potential cation channel | Q13563 |
| C0010674 | Cystic Fibrosis | FUT1 | 2523 | fucosyltransferase 1 (H blood group) | P19526 |
| C0010674 | Cystic Fibrosis | FUT4 | 2526 | fucosyltransferase 4 | P22083 |
| C0010674 | Cystic Fibrosis | FUT3 | 2525 | fucosyltransferase 3 (Lewis blood group) | P21217 |
| C0010674 | Cystic Fibrosis | FUT2 | 2524 | fucosyltransferase 2 | Q10981 |
| C0010674 | Cystic Fibrosis | ABO | 28 | ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase | P16442 |
| C0010674 | Cystic Fibrosis | SUMF1 | 285362 | sulfatase modifying factor 1 | Q8NBK3 |
| C0010674 | Cystic Fibrosis | GLB1 | 2720 | galactosidase beta 1 | P16278 |
| C0010674 | Cystic Fibrosis | HEXA | 3073 | hexosaminidase subunit alpha | P06865 |
