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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 |
|---|---|---|---|---|---|
| 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 |
| C0003460 | Anuria | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C0003431 | Antisocial Personality Disorder | EXT1 | 2131 | exostosin glycosyltransferase 1 | Q16394 |
| C0003431 | Antisocial Personality Disorder | ADH1B | 125 | alcohol dehydrogenase 1B (class I), beta polypeptide | P00325 |
| C0003431 | Antisocial Personality Disorder | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C0003431 | Antisocial Personality Disorder | ALDH2 | 217 | aldehyde dehydrogenase 2 family member | P05091 |
| C0003431 | Antisocial Personality Disorder | GAD1 | 2571 | glutamate decarboxylase 1 | Q99259 |
| C0003431 | Antisocial Personality Disorder | CAT | 847 | catalase | P04040 |
| C0003431 | Antisocial Personality Disorder | CYP2E1 | 1571 | cytochrome P450 family 2 subfamily E member 1 | P05181 |
| C0003257 | Antibody Deficiency Syndrome | FCN3 | 8547 | ficolin 3 | O75636 |
| C0003177 | Cutaneous anthrax | CAT | 847 | catalase | P04040 |
| C0003175 | Anthrax disease | GALNS | 2588 | galactosamine (N-acetyl)-6-sulfatase | P34059 |
| C0003175 | Anthrax disease | PARP1 | 142 | poly(ADP-ribose) polymerase 1 | P09874 |
| C0003175 | Anthrax disease | STT3A | 3703 | STT3 oligosaccharyltransferase complex catalytic subunit A | P46977 |
| C0003175 | Anthrax disease | CALR | 811 | calreticulin | P27797 |
| C0003175 | Anthrax disease | PLB1 | 151056 | phospholipase B1 | Q6P1J6 |
| C0003175 | Anthrax disease | LGALS1 | 3956 | galectin 1 | P09382 |
| C0003175 | Anthrax disease | HACD1 | 9200 | 3-hydroxyacyl-CoA dehydratase 1 | B0YJ81 |
