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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 |
|---|---|---|---|---|---|
| C1857276 | Trichohepatoenteric Syndrome | PRNP | 5621 | prion protein | P04156 |
| C1857276 | Trichohepatoenteric Syndrome | SDHD | 6392 | succinate dehydrogenase complex subunit D | O14521 |
| C1857276 | Trichohepatoenteric Syndrome | TECTA | 7007 | tectorin alpha | O75443 |
| C1857276 | Trichohepatoenteric Syndrome | CBR1 | 873 | carbonyl reductase 1 | P16152 |
| C1857276 | Trichohepatoenteric Syndrome | SUCLA2 | 8803 | succinate-CoA ligase ADP-forming subunit beta | Q9P2R7 |
| C1857276 | Trichohepatoenteric Syndrome | SLC33A1 | 9197 | solute carrier family 33 member 1 | O00400 |
| C1857276 | Trichohepatoenteric Syndrome | LPIN2 | 9663 | lipin 2 | Q92539 |
| C1857276 | Trichohepatoenteric Syndrome | SLC35A2 | 7355 | solute carrier family 35 member A2 | P78381 |
| C1857276 | Trichohepatoenteric Syndrome | GALT | 2592 | galactose-1-phosphate uridylyltransferase | P07902 |
| C1857276 | Trichohepatoenteric Syndrome | MUTYH | 4595 | mutY DNA glycosylase | Q9UIF7 |
| C1857276 | Trichohepatoenteric Syndrome | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C1857276 | Trichohepatoenteric Syndrome | CYP2B6 | 1555 | cytochrome P450 family 2 subfamily B member 6 | P20813 |
| C1857276 | Trichohepatoenteric Syndrome | CYP11A1 | 1583 | cytochrome P450 family 11 subfamily A member 1 | P05108 |
| C1857276 | Trichohepatoenteric Syndrome | CYP11B1 | 1584 | cytochrome P450 family 11 subfamily B member 1 | P15538 |
| C1857276 | Trichohepatoenteric Syndrome | CYP11B2 | 1585 | cytochrome P450 family 11 subfamily B member 2 | P19099 |
| C1857276 | Trichohepatoenteric Syndrome | CYP19A1 | 1588 | cytochrome P450 family 19 subfamily A member 1 | P11511 |
| C1857276 | Trichohepatoenteric Syndrome | CYP21A2 | 1589 | cytochrome P450 family 21 subfamily A member 2 | P08686 |
| C1857276 | Trichohepatoenteric Syndrome | HSD11B2 | 3291 | hydroxysteroid 11-beta dehydrogenase 2 | P80365 |
| C1857276 | Trichohepatoenteric Syndrome | OCRL | 4952 | OCRL inositol polyphosphate-5-phosphatase | Q01968 |
| C1857276 | Trichohepatoenteric Syndrome | PAFAH1B1 | 5048 | platelet activating factor acetylhydrolase 1b regulatory subunit 1 | P43034 |
| C1857276 | Trichohepatoenteric Syndrome | PRNP | 5621 | prion protein | F7VJQ1 |
| C1857276 | Trichohepatoenteric Syndrome | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C1857276 | Trichohepatoenteric Syndrome | BCKDHA | 593 | branched chain keto acid dehydrogenase E1 subunit alpha | P12694 |
| C1857276 | Trichohepatoenteric Syndrome | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C1857276 | Trichohepatoenteric Syndrome | TKT | 7086 | transketolase | P29401 |
