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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 |
|---|---|---|---|---|---|
| C3714756 | Intellectual Disability | SULT1E1 | 6783 | sulfotransferase family 1E member 1 | P49888 |
| C3714756 | Intellectual Disability | CA4 | 762 | carbonic anhydrase 4 | P22748 |
| C3714756 | Intellectual Disability | ALDH5A1 | 7915 | aldehyde dehydrogenase 5 family member A1 | P51649 |
| C3714756 | Intellectual Disability | CACNA2D1 | 781 | calcium voltage-gated channel auxiliary subunit alpha2delta 1 | P54289 |
| C3714756 | Intellectual Disability | CRPPA | 729920 | CDP-L-ribitol pyrophosphorylase A | A4D126 |
| C3714756 | Intellectual Disability | COLEC11 | 78989 | collectin subfamily member 11 | Q9BWP8 |
| C3714756 | Intellectual Disability | DGCR2 | 9993 | DiGeorge syndrome critical region gene 2 | P98153 |
| C3714756 | Intellectual Disability | PTDSS1 | 9791 | phosphatidylserine synthase 1 | P48651 |
| C3714756 | Intellectual Disability | SUCLG1 | 8802 | succinate-CoA ligase GDP/ADP-forming subunit alpha | P53597 |
| C3714753 | RETINOSCHISIS 1, X-LINKED, JUVENILE | SLC5A1 | 6523 | solute carrier family 5 member 1 | P13866 |
| C3714753 | RETINOSCHISIS 1, X-LINKED, JUVENILE | PAFAH1B1 | 5048 | platelet activating factor acetylhydrolase 1b regulatory subunit 1 | P43034 |
| C3714731 | Early childhood caries | PSAP | 5660 | prosaposin | P07602 |
| C3714731 | Early childhood caries | MBL2 | 4153 | mannose binding lectin 2 | P11226 |
| C3714731 | Early childhood caries | DAG1 | 1605 | dystroglycan 1 | Q14118 |
| C3714731 | Early childhood caries | ALOX15 | 246 | arachidonate 15-lipoxygenase | P16050 |
| C3714644 | Thymus Neoplasms | LGALS1 | 3956 | galectin 1 | P09382 |
| C3714644 | Thymus Neoplasms | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C3714636 | Pneumonitis | CHST7 | 56548 | carbohydrate sulfotransferase 7 | Q9NS84 |
| C3714636 | Pneumonitis | GLA | 2717 | galactosidase alpha | P06280 |
| C3714636 | Pneumonitis | ARSA | 410 | arylsulfatase A | P15289 |
| C3714636 | Pneumonitis | SMPD1 | 6609 | sphingomyelin phosphodiesterase 1 | P17405 |
| C3714636 | Pneumonitis | CTSA | 5476 | cathepsin A | P10619 |
| C3714636 | Pneumonitis | CHI3L1 | 1116 | chitinase 3 like 1 | P36222 |
| C3714636 | Pneumonitis | PARP1 | 142 | poly(ADP-ribose) polymerase 1 | P09874 |
| C3714636 | Pneumonitis | AKR1B1 | 231 | aldo-keto reductase family 1 member B | P15121 |
