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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 |
|---|---|---|---|---|---|
| C0010495 | Cutis Laxa | B4GALT7 | 11285 | beta-1,4-galactosyltransferase 7 | Q9UBV7 |
| C0010495 | Cutis Laxa | B3GALT6 | 126792 | beta-1,3-galactosyltransferase 6 | Q96L58 |
| C0010495 | Cutis Laxa | B3GAT3 | 26229 | beta-1,3-glucuronyltransferase 3 | O94766 |
| C0010495 | Cutis Laxa | MAN1B1 | 11253 | mannosidase alpha class 1B member 1 | Q9UKM7 |
| C0010495 | Cutis Laxa | CHST3 | 9469 | carbohydrate sulfotransferase 3 | Q7LGC8 |
| C0010495 | Cutis Laxa | ATP6V0A2 | 23545 | ATPase H+ transporting V0 subunit a2 | Q9Y487 |
| C0010495 | Cutis Laxa | PMM2 | 5373 | phosphomannomutase 2 | O15305 |
| C0010495 | Cutis Laxa | SRD5A3 | 79644 | steroid 5 alpha-reductase 3 | Q9H8P0 |
| C0010495 | Cutis Laxa | DCN | 1634 | decorin | P07585 |
| C0010495 | Cutis Laxa | PLCG2 | 5336 | phospholipase C gamma 2 | P16885 |
| C0010495 | Cutis Laxa | SLC2A10 | 81031 | solute carrier family 2 member 10 | O95528 |
| C0010495 | Cutis Laxa | CAT | 847 | catalase | P04040 |
| C0010495 | Cutis Laxa | ECHS1 | 1892 | enoyl-CoA hydratase, short chain 1 | P30084 |
| C0010495 | Cutis Laxa | ATP6AP1 | 537 | ATPase H+ transporting accessory protein 1 | Q15904 |
| C0010495 | Cutis Laxa | PTDSS1 | 9791 | phosphatidylserine synthase 1 | P48651 |
| C0010481 | Cushing Syndrome | AKR1B1 | 231 | aldo-keto reductase family 1 member B | P15121 |
| C0010481 | Cushing Syndrome | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C0010481 | Cushing Syndrome | APRT | 353 | adenine phosphoribosyltransferase | P07741 |
| C0010481 | Cushing Syndrome | CYP17A1 | 1586 | cytochrome P450 family 17 subfamily A member 1 | P05093 |
| C0010481 | Cushing Syndrome | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C0010481 | Cushing Syndrome | FH | 2271 | fumarate hydratase | P07954 |
| C0010481 | Cushing Syndrome | HSD11B1 | 3290 | hydroxysteroid 11-beta dehydrogenase 1 | P28845 |
| C0010481 | Cushing Syndrome | ACAT1 | 38 | acetyl-CoA acetyltransferase 1 | P24752 |
| C0010481 | Cushing Syndrome | CYP3A4 | 1576 | cytochrome P450 family 3 subfamily A member 4 | P08684 |
| C0010481 | Cushing Syndrome | CYP11B1 | 1584 | cytochrome P450 family 11 subfamily B member 1 | P15538 |
