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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 |
|---|---|---|---|---|---|
| C0001622 | Adrenal Gland Hyperfunction | HSD3B1 | 3283 | hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1 | P14060 |
| C0001622 | Adrenal Gland Hyperfunction | HSD3B2 | 3284 | hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 | P26439 |
| C0001622 | Adrenal Gland Hyperfunction | CYP11B2 | 1585 | cytochrome P450 family 11 subfamily B member 2 | P19099 |
| C0001622 | Adrenal Gland Hyperfunction | CYP11B1 | 1584 | cytochrome P450 family 11 subfamily B member 1 | P15538 |
| C0001622 | Adrenal Gland Hyperfunction | CYP19A1 | 1588 | cytochrome P450 family 19 subfamily A member 1 | P11511 |
| C0001621 | Adrenal Gland Diseases | SDHB | 6390 | succinate dehydrogenase complex iron sulfur subunit B | P21912 |
| C0001618 | Tumors of Adrenal Cortex | AKR1B1 | 231 | aldo-keto reductase family 1 member B | P15121 |
| C0001618 | Tumors of Adrenal Cortex | IDH1 | 3417 | isocitrate dehydrogenase (NADP(+)) 1 | O75874 |
| C0001618 | Tumors of Adrenal Cortex | AKR1B10 | 57016 | aldo-keto reductase family 1 member B10 | O60218 |
| C0001618 | Tumors of Adrenal Cortex | IDH2 | 3418 | isocitrate dehydrogenase (NADP(+)) 2 | P48735 |
| C0001618 | Tumors of Adrenal Cortex | CYP21A2 | 1589 | cytochrome P450 family 21 subfamily A member 2 | P08686 |
| C0001618 | Tumors of Adrenal Cortex | CYP19A1 | 1588 | cytochrome P450 family 19 subfamily A member 1 | P11511 |
| C0001618 | Tumors of Adrenal Cortex | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0001618 | Tumors of Adrenal Cortex | TKT | 7086 | transketolase | P29401 |
| C0001430 | Adenoma | FUT4 | 2526 | fucosyltransferase 4 | P22083 |
| C0001430 | Adenoma | FUT8 | 2530 | fucosyltransferase 8 | Q9BYC5 |
| C0001430 | Adenoma | MGAT5 | 4249 | alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase | Q09328 |
| C0001430 | Adenoma | GALNT12 | 79695 | polypeptide N-acetylgalactosaminyltransferase 12 | Q8IXK2 |
| C0001430 | Adenoma | CHST3 | 9469 | carbohydrate sulfotransferase 3 | Q7LGC8 |
| C0001430 | Adenoma | SLC26A2 | 1836 | solute carrier family 26 member 2 | P50443 |
| C0001430 | Adenoma | GUSB | 2990 | glucuronidase beta | P08236 |
| C0001430 | Adenoma | ARSA | 410 | arylsulfatase A | P15289 |
| C0001430 | Adenoma | NAGLU | 4669 | N-acetyl-alpha-glucosaminidase | P54802 |
| C0001430 | Adenoma | CHI3L1 | 1116 | chitinase 3 like 1 | P36222 |
| C0001430 | Adenoma | PARP1 | 142 | poly(ADP-ribose) polymerase 1 | P09874 |
