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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 | 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 |
| C1857255 | Diastrophic Dysplasia, Broad Bone-Platyspondylic Variant | SLC26A2 | 1836 | solute carrier family 26 member 2 | P50443 |
| C1857242 | Rhizomelic chondrodysplasia punctata, type 2 | GNPAT | 8443 | glyceronephosphate O-acyltransferase | O15228 |
| C1857231 | LACTASE PERSISTENCE | GLB1 | 2720 | galactosidase beta 1 | P16278 |
| C1857231 | LACTASE PERSISTENCE | LCT | 3938 | lactase | P09848 |
| C1857100 | Dyssegmental dysplasia | HSPG2 | 3339 | heparan sulfate proteoglycan 2 | P98160 |
| C1856934 | Epidermolysis bullosa with pyloric atresia | GALK1 | 2584 | galactokinase 1 | P51570 |
| C1856689 | FRIEDREICH ATAXIA 1 | GPAA1 | 8733 | glycosylphosphatidylinositol anchor attachment 1 | O43292 |
| C1856689 | FRIEDREICH ATAXIA 1 | GAA | 2548 | glucosidase alpha, acid | P10253 |
| C1856689 | FRIEDREICH ATAXIA 1 | ACO2 | 50 | aconitase 2 | Q99798 |
| C1856689 | FRIEDREICH ATAXIA 1 | HPGDS | 27306 | hematopoietic prostaglandin D synthase | O60760 |
| C1856689 | FRIEDREICH ATAXIA 1 | GPX1 | 2876 | glutathione peroxidase 1 | P07203 |
| C1856689 | FRIEDREICH ATAXIA 1 | ICAM1 | 3383 | intercellular adhesion molecule 1 | P05362 |
| C1856689 | FRIEDREICH ATAXIA 1 | LPL | 4023 | lipoprotein lipase | P06858 |
| C1856689 | FRIEDREICH ATAXIA 1 | VCAM1 | 7412 | vascular cell adhesion molecule 1 | P19320 |
| C1856689 | FRIEDREICH ATAXIA 1 | PIP5K1B | 8395 | phosphatidylinositol-4-phosphate 5-kinase type 1 beta | O14986 |
