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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 |
|---|---|---|---|---|---|
| C0272375 | Antithrombin III Deficiency | PMM2 | 5373 | phosphomannomutase 2 | O15305 |
| C0272375 | Antithrombin III Deficiency | SRD5A3 | 79644 | steroid 5 alpha-reductase 3 | Q9H8P0 |
| C0272375 | Antithrombin III Deficiency | PC | 5091 | pyruvate carboxylase | P11498 |
| C0272375 | Antithrombin III Deficiency | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C0272375 | Antithrombin III Deficiency | LCT | 3938 | lactase | P09848 |
| C0272375 | Antithrombin III Deficiency | DPM2 | 8818 | dolichyl-phosphate mannosyltransferase subunit 2, regulatory | O94777 |
| C1860042 | Antley-Bixler Syndrome with Disordered Steroidogenesis | CYP2B6 | 1555 | cytochrome P450 family 2 subfamily B member 6 | P20813 |
| C2936791 | Antley-Bixler Syndrome, Autosomal Dominant | CYP1A2 | 1544 | cytochrome P450 family 1 subfamily A member 2 | P05177 |
| C2936791 | Antley-Bixler Syndrome, Autosomal Dominant | CYP2B6 | 1555 | cytochrome P450 family 2 subfamily B member 6 | P20813 |
| C2936791 | Antley-Bixler Syndrome, Autosomal Dominant | CYP51A1 | 1595 | cytochrome P450 family 51 subfamily A member 1 | Q16850 |
| C0003460 | Anuria | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C0242473 | Anus Prolapse | FREM1 | 158326 | FRAS1 related extracellular matrix 1 | Q5H8C1 |
| C0003466 | Anus, Imperforate | POMT1 | 10585 | protein O-mannosyltransferase 1 | Q9Y6A1 |
| C0003466 | Anus, Imperforate | B3GLCT | 145173 | beta 3-glucosyltransferase | Q6Y288 |
| C0003466 | Anus, Imperforate | FKTN | 2218 | fukutin | O75072 |
| C0003466 | Anus, Imperforate | PIGN | 23556 | phosphatidylinositol glycan anchor biosynthesis class N | O95427 |
| C0003466 | Anus, Imperforate | POMT2 | 29954 | protein O-mannosyltransferase 2 | Q9UKY4 |
| C0003466 | Anus, Imperforate | PIGO | 84720 | phosphatidylinositol glycan anchor biosynthesis class O | Q8TEQ8 |
| C0003466 | Anus, Imperforate | FKRP | 79147 | fukutin related protein | Q9H9S5 |
| C0003466 | Anus, Imperforate | LARGE1 | 9215 | LARGE xylosyl- and glucuronyltransferase 1 | O95461 |
| C0003466 | Anus, Imperforate | COMT | 1312 | catechol-O-methyltransferase | P21964 |
| C0003467 | Anxiety | B3GAT1 | 27087 | beta-1,3-glucuronyltransferase 1 | Q9P2W7 |
| C0003467 | Anxiety | SLC35C1 | 55343 | solute carrier family 35 member C1 | Q96A29 |
| C0003467 | Anxiety | NDST3 | 9348 | N-deacetylase and N-sulfotransferase 3 | O95803 |
| C0003467 | Anxiety | HS6ST1 | 9394 | heparan sulfate 6-O-sulfotransferase 1 | O60243 |
