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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 |
|---|---|---|---|---|---|
| C0011981 | Diaphragmatic Eventration | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C0011981 | Diaphragmatic Eventration | MTM1 | 4534 | myotubularin 1 | Q13496 |
| C0011989 | Camurati-Engelmann Syndrome | TMEM165 | 55858 | transmembrane protein 165 | Q9HC07 |
| C0011989 | Camurati-Engelmann Syndrome | DPEP1 | 1800 | dipeptidase 1 | P16444 |
| C0011989 | Camurati-Engelmann Syndrome | LGALS1 | 3956 | galectin 1 | P09382 |
| C0011989 | Camurati-Engelmann Syndrome | TBXAS1 | 6916 | thromboxane A synthase 1 | P24557 |
| C0011991 | Diarrhea | ALG3 | 10195 | ALG3 alpha-1,3- mannosyltransferase | Q92685 |
| C0011991 | Diarrhea | FUT2 | 2524 | fucosyltransferase 2 | Q10981 |
| C0011991 | Diarrhea | FUT1 | 2523 | fucosyltransferase 1 (H blood group) | P19526 |
| C0011991 | Diarrhea | ABO | 28 | ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase | P16442 |
| C0011991 | Diarrhea | PIGT | 51604 | phosphatidylinositol glycan anchor biosynthesis class T | Q969N2 |
| C0011991 | Diarrhea | ALG8 | 79053 | ALG8 alpha-1,3-glucosyltransferase | Q9BVK2 |
| C0011991 | Diarrhea | ST8SIA4 | 7903 | ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4 | Q92187 |
| C0011991 | Diarrhea | ST8SIA2 | 8128 | ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2 | Q92186 |
| C0011991 | Diarrhea | HGSNAT | 138050 | heparan-alpha-glucosaminide N-acetyltransferase | Q68CP4 |
| C0011991 | Diarrhea | AGA | 175 | aspartylglucosaminidase | P20933 |
| C0011991 | Diarrhea | SLC26A2 | 1836 | solute carrier family 26 member 2 | P50443 |
| C0011991 | Diarrhea | GLA | 2717 | galactosidase alpha | P06280 |
| C0011991 | Diarrhea | GLB1 | 2720 | galactosidase beta 1 | P16278 |
| C0011991 | Diarrhea | GNS | 2799 | glucosamine (N-acetyl)-6-sulfatase | P15586 |
| C0011991 | Diarrhea | GUSB | 2990 | glucuronidase beta | P08236 |
| C0011991 | Diarrhea | IDS | 3423 | iduronate 2-sulfatase | P22304 |
| C0011991 | Diarrhea | LIPA | 3988 | lipase A, lysosomal acid type | P38571 |
| C0011991 | Diarrhea | MPI | 4351 | mannose phosphate isomerase | P34949 |
| C0011991 | Diarrhea | PMM2 | 5373 | phosphomannomutase 2 | O15305 |
