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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 |
|---|---|---|---|---|---|
| C0001430 | Adenoma | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0001430 | Adenoma | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C0001430 | Adenoma | PTGIS | 5740 | prostaglandin I2 synthase | Q16647 |
| C0001430 | Adenoma | SHMT1 | 6470 | serine hydroxymethyltransferase 1 | P34896 |
| 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 |
| C0001621 | Adrenal Gland Diseases | SDHB | 6390 | succinate dehydrogenase complex iron sulfur subunit B | P21912 |
| C0001622 | Adrenal Gland Hyperfunction | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C0001622 | Adrenal Gland Hyperfunction | HSD11B1 | 3290 | hydroxysteroid 11-beta dehydrogenase 1 | P28845 |
| 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 |
| C0001623 | Adrenal gland hypofunction | LIPA | 3988 | lipase A, lysosomal acid type | P38571 |
| C0001623 | Adrenal gland hypofunction | CYP17A1 | 1586 | cytochrome P450 family 17 subfamily A member 1 | P05093 |
| C0001623 | Adrenal gland hypofunction | GMPPA | 29926 | GDP-mannose pyrophosphorylase A | Q96IJ6 |
| C0001623 | Adrenal gland hypofunction | PLA2G2A | 5320 | phospholipase A2 group IIA | P14555 |
| C0001623 | Adrenal gland hypofunction | SGPL1 | 8879 | sphingosine-1-phosphate lyase 1 | O95470 |
