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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 |
|---|---|---|---|---|---|
| C0010417 | Cryptorchidism | POMGNT1 | 55624 | protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Q8WZA1 |
| C0010417 | Cryptorchidism | ALG8 | 79053 | ALG8 alpha-1,3-glucosyltransferase | Q9BVK2 |
| C0010417 | Cryptorchidism | ALG12 | 79087 | ALG12 alpha-1,6-mannosyltransferase | Q9BV10 |
| C0010417 | Cryptorchidism | LARGE1 | 9215 | LARGE xylosyl- and glucuronyltransferase 1 | O95461 |
| C0010417 | Cryptorchidism | POMK | 84197 | protein O-mannose kinase | Q9H5K3 |
| C0010417 | Cryptorchidism | POMGNT2 | 84892 | protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) | Q8NAT1 |
| C0010417 | Cryptorchidism | OGT | 8473 | O-linked N-acetylglucosamine (GlcNAc) transferase | O15294 |
| C0010417 | Cryptorchidism | FKRP | 79147 | fukutin related protein | Q9H9S5 |
| C0010417 | Cryptorchidism | COG5 | 10466 | component of oligomeric golgi complex 5 | Q9UP83 |
| C0010417 | Cryptorchidism | HS6ST1 | 9394 | heparan sulfate 6-O-sulfotransferase 1 | O60243 |
| C0010417 | Cryptorchidism | ATP6V0A2 | 23545 | ATPase H+ transporting V0 subunit a2 | Q9Y487 |
| C0010417 | Cryptorchidism | SLC26A2 | 1836 | solute carrier family 26 member 2 | P50443 |
| C0010417 | Cryptorchidism | PMM2 | 5373 | phosphomannomutase 2 | O15305 |
| C0010417 | Cryptorchidism | COG1 | 9382 | component of oligomeric golgi complex 1 | Q8WTW3 |
| C0010417 | Cryptorchidism | GPC6 | 10082 | glypican 6 | Q9Y625 |
| C0010417 | Cryptorchidism | RXYLT1 | 10329 | ribitol xylosyltransferase 1 | Q9Y2B1 |
| C0010417 | Cryptorchidism | COMT | 1312 | catechol-O-methyltransferase | P21964 |
| C0010417 | Cryptorchidism | STT3B | 201595 | STT3 oligosaccharyltransferase complex catalytic subunit B | Q8TCJ2 |
| C0010417 | Cryptorchidism | GMPPB | 29925 | GDP-mannose pyrophosphorylase B | Q9Y5P6 |
| C0010417 | Cryptorchidism | INPPL1 | 3636 | inositol polyphosphate phosphatase like 1 | O15357 |
| C0010417 | Cryptorchidism | PGK2 | 5232 | phosphoglycerate kinase 2 | P07205 |
| C0010417 | Cryptorchidism | HPSE2 | 60495 | heparanase 2 (inactive) | Q8WWQ2 |
| C0010417 | Cryptorchidism | G6PC3 | 92579 | glucose-6-phosphatase catalytic subunit 3 | Q9BUM1 |
| C0010417 | Cryptorchidism | SMC3 | 9126 | structural maintenance of chromosomes 3 | Q9UQE7 |
| C0010417 | Cryptorchidism | FIG4 | 9896 | FIG4 phosphoinositide 5-phosphatase | Q92562 |
