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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 |
|---|---|---|---|---|---|
| C0239849 | Harlequin Fetus | PRSS8 | 5652 | serine protease 8 | Q16651 |
| C0239946 | Fibrosis, Liver | EXTL3 | 2137 | exostosin like glycosyltransferase 3 | O43909 |
| C0239946 | Fibrosis, Liver | FUT1 | 2523 | fucosyltransferase 1 (H blood group) | P19526 |
| C0239946 | Fibrosis, Liver | HAS2 | 3037 | hyaluronan synthase 2 | Q92819 |
| C0239946 | Fibrosis, Liver | OGT | 8473 | O-linked N-acetylglucosamine (GlcNAc) transferase | O15294 |
| C0239946 | Fibrosis, Liver | DDOST | 1650 | dolichyl-diphosphooligosaccharide--protein glycosyltransferase non-catalytic subunit | P39656 |
| C0239946 | Fibrosis, Liver | GBA | 2629 | glucosylceramidase beta | P04062 |
| C0239946 | Fibrosis, Liver | LIPA | 3988 | lipase A, lysosomal acid type | P38571 |
| C0239946 | Fibrosis, Liver | MPI | 4351 | mannose phosphate isomerase | P34949 |
| C0239946 | Fibrosis, Liver | PMM2 | 5373 | phosphomannomutase 2 | O15305 |
| C0239946 | Fibrosis, Liver | SMPD1 | 6609 | sphingomyelin phosphodiesterase 1 | P17405 |
| C0239946 | Fibrosis, Liver | AKR1A1 | 10327 | aldo-keto reductase family 1 member A1 | P14550 |
| C0239946 | Fibrosis, Liver | CHI3L1 | 1116 | chitinase 3 like 1 | P36222 |
| C0239946 | Fibrosis, Liver | HPSE | 10855 | heparanase | Q9Y251 |
| C0239946 | Fibrosis, Liver | CHIT1 | 1118 | chitinase 1 | Q13231 |
| C0239946 | Fibrosis, Liver | CPT2 | 1376 | carnitine palmitoyltransferase 2 | P23786 |
| C0239946 | Fibrosis, Liver | PARP1 | 142 | poly(ADP-ribose) polymerase 1 | P09874 |
| C0239946 | Fibrosis, Liver | DLAT | 1737 | dihydrolipoamide S-acetyltransferase | P10515 |
| C0239946 | Fibrosis, Liver | AGL | 178 | amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase | P35573 |
| C0239946 | Fibrosis, Liver | SIRT2 | 22933 | sirtuin 2 | Q8IXJ6 |
| C0239946 | Fibrosis, Liver | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C0239946 | Fibrosis, Liver | IDH1 | 3417 | isocitrate dehydrogenase (NADP(+)) 1 | O75874 |
| C0239946 | Fibrosis, Liver | IGF2R | 3482 | insulin like growth factor 2 receptor | P11717 |
| C0239946 | Fibrosis, Liver | APRT | 353 | adenine phosphoribosyltransferase | P07741 |
| C0239946 | Fibrosis, Liver | LGALS9 | 3965 | galectin 9 | O00182 |
