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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 |
|---|---|---|---|---|---|
| C0004352 | Autistic Disorder | SHMT1 | 6470 | serine hydroxymethyltransferase 1 | P34896 |
| C0004352 | Autistic Disorder | SOAT1 | 6646 | sterol O-acyltransferase 1 | P35610 |
| C0004352 | Autistic Disorder | ALDH5A1 | 7915 | aldehyde dehydrogenase 5 family member A1 | P51649 |
| C0004352 | Autistic Disorder | PTDSS1 | 9791 | phosphatidylserine synthase 1 | P48651 |
| C0004364 | Autoimmune Diseases | EXT2 | 2132 | exostosin glycosyltransferase 2 | Q93063 |
| C0004364 | Autoimmune Diseases | EXT1 | 2131 | exostosin glycosyltransferase 1 | Q16394 |
| C0004364 | Autoimmune Diseases | FUT1 | 2523 | fucosyltransferase 1 (H blood group) | P19526 |
| C0004364 | Autoimmune Diseases | FUT2 | 2524 | fucosyltransferase 2 | Q10981 |
| C0004364 | Autoimmune Diseases | C1GALT1C1 | 29071 | C1GALT1 specific chaperone 1 | Q96EU7 |
| C0004364 | Autoimmune Diseases | ABO | 28 | ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase | P16442 |
| C0004364 | Autoimmune Diseases | PIGA | 5277 | phosphatidylinositol glycan anchor biosynthesis class A | P37287 |
| C0004364 | Autoimmune Diseases | C1GALT1 | 56913 | core 1 synthase, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1 | Q9NS00 |
| C0004364 | Autoimmune Diseases | FUCA1 | 2517 | alpha-L-fucosidase 1 | P04066 |
| C0004364 | Autoimmune Diseases | NEU1 | 4758 | neuraminidase 1 | Q99519 |
| C0004364 | Autoimmune Diseases | ATP6AP2 | 10159 | ATPase H+ transporting accessory protein 2 | O75787 |
| C0004364 | Autoimmune Diseases | AKR1A1 | 10327 | aldo-keto reductase family 1 member A1 | P14550 |
| C0004364 | Autoimmune Diseases | IL1RAPL1 | 11141 | interleukin 1 receptor accessory protein like 1 | Q9NZN1 |
| C0004364 | Autoimmune Diseases | HPSE | 10855 | heparanase | Q9Y251 |
| C0004364 | Autoimmune Diseases | CHI3L1 | 1116 | chitinase 3 like 1 | P36222 |
| C0004364 | Autoimmune Diseases | PARP1 | 142 | poly(ADP-ribose) polymerase 1 | P09874 |
| C0004364 | Autoimmune Diseases | ENO1 | 2023 | enolase 1 | P06733 |
| C0004364 | Autoimmune Diseases | DLAT | 1737 | dihydrolipoamide S-acetyltransferase | P10515 |
| C0004364 | Autoimmune Diseases | ENO3 | 2027 | enolase 3 | P13929 |
| C0004364 | Autoimmune Diseases | ENO2 | 2026 | enolase 2 | P09104 |
| C0004364 | Autoimmune Diseases | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
