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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 |
|---|---|---|---|---|---|
| C0003076 | Aniridia | GPC3 | 2719 | glypican 3 | P51654 |
| C0003076 | Aniridia | MDH2 | 4191 | malate dehydrogenase 2 | P40926 |
| C0003076 | Aniridia | ADH7 | 131 | alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide | P40394 |
| C0003076 | Aniridia | CYP1B1 | 1545 | cytochrome P450 family 1 subfamily B member 1 | Q16678 |
| C0003076 | Aniridia | DLST | 1743 | dihydrolipoamide S-succinyltransferase | P36957 |
| C0003076 | Aniridia | ARSD | 414 | arylsulfatase D | P51689 |
| C0003076 | Aniridia | SDHA | 6389 | succinate dehydrogenase complex flavoprotein subunit A | P31040 |
| C0003081 | Anisometropia | SLC35A2 | 7355 | solute carrier family 35 member A2 | P78381 |
| C0003081 | Anisometropia | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0003090 | Ankylosis | ENPP1 | 5167 | ectonucleotide pyrophosphatase/phosphodiesterase 1 | P22413 |
| C0003090 | Ankylosis | PLCB4 | 5332 | phospholipase C beta 4 | Q15147 |
| C0003125 | Anorexia Nervosa | CSGALNACT1 | 55790 | chondroitin sulfate N-acetylgalactosaminyltransferase 1 | Q8TDX6 |
| C0003125 | Anorexia Nervosa | SGSH | 6448 | N-sulfoglucosamine sulfohydrolase | P51688 |
| C0003125 | Anorexia Nervosa | COMT | 1312 | catechol-O-methyltransferase | P21964 |
| C0003125 | Anorexia Nervosa | LYZ | 4069 | lysozyme | P61626 |
| C0003125 | Anorexia Nervosa | PARP9 | 83666 | poly(ADP-ribose) polymerase family member 9 | Q8IXQ6 |
| C0003125 | Anorexia Nervosa | CD38 | 952 | CD38 molecule | P28907 |
| C0003125 | Anorexia Nervosa | CNTN4 | 152330 | contactin 4 | Q8IWV2 |
| C0003125 | Anorexia Nervosa | CYP17A1 | 1586 | cytochrome P450 family 17 subfamily A member 1 | P05093 |
| C0003125 | Anorexia Nervosa | NTNG1 | 22854 | netrin G1 | Q9Y2I2 |
| C0003125 | Anorexia Nervosa | CNTN6 | 27255 | contactin 6 | Q9UQ52 |
| C0003125 | Anorexia Nervosa | ERLEC1 | 27248 | endoplasmic reticulum lectin 1 | Q96DZ1 |
| C0003125 | Anorexia Nervosa | CNTN5 | 53942 | contactin 5 | O94779 |
| C0003125 | Anorexia Nervosa | SCD | 6319 | stearoyl-CoA desaturase | O00767 |
| C0003125 | Anorexia Nervosa | AMY1A | 276 | amylase alpha 1A | P04745 |
