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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 |
|---|---|---|---|---|---|
| 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 |
| C0001623 | Adrenal gland hypofunction | CYP2B6 | 1555 | cytochrome P450 family 2 subfamily B member 6 | P20813 |
| C0001623 | Adrenal gland hypofunction | CYP11B1 | 1584 | cytochrome P450 family 11 subfamily B member 1 | P15538 |
| C0001623 | Adrenal gland hypofunction | CYP11A1 | 1583 | cytochrome P450 family 11 subfamily A member 1 | P05108 |
| C0001623 | Adrenal gland hypofunction | CYP21A2 | 1589 | cytochrome P450 family 21 subfamily A member 2 | P08686 |
| C0268285 | Adrenal hyperplasia, congenital, type 5 | CYP17A1 | 1586 | cytochrome P450 family 17 subfamily A member 1 | P05093 |
| C0268285 | Adrenal hyperplasia, congenital, type 5 | CYP2B6 | 1555 | cytochrome P450 family 2 subfamily B member 6 | P20813 |
| C1846223 | Adrenal hypoplasia | CYP11A1 | 1583 | cytochrome P450 family 11 subfamily A member 1 | P05108 |
| C0206686 | Adrenocortical carcinoma | CHST3 | 9469 | carbohydrate sulfotransferase 3 | Q7LGC8 |
| C0206686 | Adrenocortical carcinoma | GLB1 | 2720 | galactosidase beta 1 | P16278 |
| C0206686 | Adrenocortical carcinoma | NAGLU | 4669 | N-acetyl-alpha-glucosaminidase | P54802 |
| C0206686 | Adrenocortical carcinoma | ENO2 | 2026 | enolase 2 | P09104 |
| C0206686 | Adrenocortical carcinoma | AKR1B1 | 231 | aldo-keto reductase family 1 member B | P15121 |
| C0206686 | Adrenocortical carcinoma | IGF2R | 3482 | insulin like growth factor 2 receptor | P11717 |
| C0206686 | Adrenocortical carcinoma | SIRT6 | 51548 | sirtuin 6 | Q8N6T7 |
| C0206686 | Adrenocortical carcinoma | ACOT7 | 11332 | acyl-CoA thioesterase 7 | O00154 |
| C0206686 | Adrenocortical carcinoma | CHGA | 1113 | chromogranin A | P10645 |
| C0206686 | Adrenocortical carcinoma | CYP17A1 | 1586 | cytochrome P450 family 17 subfamily A member 1 | P05093 |
| C0206686 | Adrenocortical carcinoma | FH | 2271 | fumarate hydratase | P07954 |
| C0206686 | Adrenocortical carcinoma | ACAT1 | 38 | acetyl-CoA acetyltransferase 1 | P24752 |
| C0206686 | Adrenocortical carcinoma | ENPP3 | 5169 | ectonucleotide pyrophosphatase/phosphodiesterase 3 | O14638 |
