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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 |
|---|---|---|---|---|---|
| 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 |
| C0003125 | Anorexia Nervosa | AMY1C | 278 | amylase alpha 1C | P04745 |
| C0003125 | Anorexia Nervosa | AMY1B | 277 | amylase alpha 1B | P04745 |
| C0003125 | Anorexia Nervosa | CYP2B6 | 1555 | cytochrome P450 family 2 subfamily B member 6 | P20813 |
| C0003125 | Anorexia Nervosa | CYP19A1 | 1588 | cytochrome P450 family 19 subfamily A member 1 | P11511 |
| C0003125 | Anorexia Nervosa | EPHX2 | 2053 | epoxide hydrolase 2 | P34913 |
| C0003125 | Anorexia Nervosa | ACACA | 31 | acetyl-CoA carboxylase alpha | Q13085 |
| C0003125 | Anorexia Nervosa | HSD11B2 | 3291 | hydroxysteroid 11-beta dehydrogenase 2 | P80365 |
| C0003125 | Anorexia Nervosa | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C3495676 | Anorectal Malformations | PIGV | 55650 | phosphatidylinositol glycan anchor biosynthesis class V | Q9NUD9 |
| C3495676 | Anorectal Malformations | AKR1A1 | 10327 | aldo-keto reductase family 1 member A1 | P14550 |
| C3495676 | Anorectal Malformations | ENO2 | 2026 | enolase 2 | P09104 |
| C3495676 | Anorectal Malformations | FREM1 | 158326 | FRAS1 related extracellular matrix 1 | Q5H8C1 |
| C0003090 | Ankylosis | ENPP1 | 5167 | ectonucleotide pyrophosphatase/phosphodiesterase 1 | P22413 |
| C0003090 | Ankylosis | PLCB4 | 5332 | phospholipase C beta 4 | Q15147 |
| C0038013 | Ankylosing spondylitis | UST | 10090 | uronyl 2-sulfotransferase | Q9Y2C2 |
| C0038013 | Ankylosing spondylitis | FUT2 | 2524 | fucosyltransferase 2 | Q10981 |
| C0038013 | Ankylosing spondylitis | GAL3ST2 | 64090 | galactose-3-O-sulfotransferase 2 | Q9H3Q3 |
| C0038013 | Ankylosing spondylitis | ST8SIA4 | 7903 | ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4 | Q92187 |
