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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 |
|---|---|---|---|---|---|
| C0206686 | Adrenocortical carcinoma | ACACA | 31 | acetyl-CoA carboxylase alpha | Q13085 |
| C0206686 | Adrenocortical carcinoma | HSD17B4 | 3295 | hydroxysteroid 17-beta dehydrogenase 4 | P51659 |
| C0206686 | Adrenocortical carcinoma | PLCB3 | 5331 | phospholipase C beta 3 | Q01970 |
| C0206686 | Adrenocortical carcinoma | SCP2 | 6342 | sterol carrier protein 2 | P22307 |
| C0206686 | Adrenocortical carcinoma | SOAT1 | 6646 | sterol O-acyltransferase 1 | P35610 |
| C0206686 | Adrenocortical carcinoma | CYP4F2 | 8529 | cytochrome P450 family 4 subfamily F member 2 | P78329 |
| C1846223 | Adrenal hypoplasia | CYP11A1 | 1583 | cytochrome P450 family 11 subfamily A member 1 | P05108 |
| 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 |
| 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 |
| C0405580 | Adrenal cortical hypofunction | CYP17A1 | 1586 | cytochrome P450 family 17 subfamily A member 1 | P05093 |
| C0405580 | Adrenal cortical hypofunction | CYP2B6 | 1555 | cytochrome P450 family 2 subfamily B member 6 | P20813 |
| C0405580 | Adrenal cortical hypofunction | CYP11B1 | 1584 | cytochrome P450 family 11 subfamily B member 1 | P15538 |
| C0405580 | Adrenal cortical hypofunction | CYP11A1 | 1583 | cytochrome P450 family 11 subfamily A member 1 | P05108 |
| C0405580 | Adrenal cortical hypofunction | CYP21A2 | 1589 | cytochrome P450 family 21 subfamily A member 2 | P08686 |
| C0001624 | Adrenal Gland Neoplasms | CHST3 | 9469 | carbohydrate sulfotransferase 3 | Q7LGC8 |
| C0001624 | Adrenal Gland Neoplasms | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
