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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 |
|---|---|---|---|---|---|
| C1145628 | Autonomic nervous system disorders | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C1148551 | X-Linked Dyskeratosis Congenita | GOLPH3 | 64083 | golgi phosphoprotein 3 | Q9H4A6 |
| C1153706 | Endometrial adenocarcinoma | FUT4 | 2526 | fucosyltransferase 4 | P22083 |
| C1153706 | Endometrial adenocarcinoma | CHST3 | 9469 | carbohydrate sulfotransferase 3 | Q7LGC8 |
| C1153706 | Endometrial adenocarcinoma | NEU1 | 4758 | neuraminidase 1 | Q99519 |
| C1153706 | Endometrial adenocarcinoma | PARP1 | 142 | poly(ADP-ribose) polymerase 1 | P09874 |
| C1153706 | Endometrial adenocarcinoma | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C1153706 | Endometrial adenocarcinoma | LGALS9 | 3965 | galectin 9 | O00182 |
| C1153706 | Endometrial adenocarcinoma | CEACAM5 | 1048 | CEA cell adhesion molecule 5 | P06731 |
| C1153706 | Endometrial adenocarcinoma | CD109 | 135228 | CD109 molecule | Q6YHK3 |
| C1153706 | Endometrial adenocarcinoma | G6PC | 2538 | glucose-6-phosphatase catalytic subunit | P35575 |
| C1153706 | Endometrial adenocarcinoma | HK2 | 3099 | hexokinase 2 | P52789 |
| C1153706 | Endometrial adenocarcinoma | AKR1C3 | 8644 | aldo-keto reductase family 1 member C3 | P42330 |
| C1153706 | Endometrial adenocarcinoma | CYP19A1 | 1588 | cytochrome P450 family 19 subfamily A member 1 | P11511 |
| C1153706 | Endometrial adenocarcinoma | CYP21A2 | 1589 | cytochrome P450 family 21 subfamily A member 2 | P08686 |
| C1153706 | Endometrial adenocarcinoma | FASN | 2194 | fatty acid synthase | P49327 |
| C1153706 | Endometrial adenocarcinoma | GPX3 | 2878 | glutathione peroxidase 3 | P22352 |
| C1153706 | Endometrial adenocarcinoma | HSD17B1 | 3292 | hydroxysteroid 17-beta dehydrogenase 1 | P14061 |
| C1153706 | Endometrial adenocarcinoma | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C1153706 | Endometrial adenocarcinoma | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C1168401 | Squamous cell carcinoma of the head and neck | ALG3 | 10195 | ALG3 alpha-1,3- mannosyltransferase | Q92685 |
| C1168401 | Squamous cell carcinoma of the head and neck | EXT1 | 2131 | exostosin glycosyltransferase 1 | Q16394 |
| C1168401 | Squamous cell carcinoma of the head and neck | FUT4 | 2526 | fucosyltransferase 4 | P22083 |
| C1168401 | Squamous cell carcinoma of the head and neck | FUT1 | 2523 | fucosyltransferase 1 (H blood group) | P19526 |
| C1168401 | Squamous cell carcinoma of the head and neck | C1GALT1 | 56913 | core 1 synthase, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1 | Q9NS00 |
