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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 |
|---|---|---|---|---|---|
| C1514284 | Potassium Deficiency Disorder | AKR1B1 | 231 | aldo-keto reductase family 1 member B | P15121 |
| C1512709 | Chronic Lymphoproliferative Disorder of NK-Cells | B3GAT1 | 27087 | beta-1,3-glucuronyltransferase 1 | Q9P2W7 |
| C1512709 | Chronic Lymphoproliferative Disorder of NK-Cells | FCGR3B | 2215 | Fc fragment of IgG receptor IIIb | O75015 |
| C1512709 | Chronic Lymphoproliferative Disorder of NK-Cells | NCAM1 | 4684 | neural cell adhesion molecule 1 | P13591 |
| C1512709 | Chronic Lymphoproliferative Disorder of NK-Cells | KLRD1 | 3824 | killer cell lectin like receptor D1 | Q13241 |
| C1511934 | Differentiating Neuroblastoma | CHAT | 1103 | choline O-acetyltransferase | P28329 |
| C1510586 | Autism Spectrum Disorders | B3GLCT | 145173 | beta 3-glucosyltransferase | Q6Y288 |
| C1510586 | Autism Spectrum Disorders | EXT1 | 2131 | exostosin glycosyltransferase 1 | Q16394 |
| C1510586 | Autism Spectrum Disorders | SLC35A3 | 23443 | solute carrier family 35 member A3 | Q9Y2D2 |
| C1510586 | Autism Spectrum Disorders | GALNT17 | 64409 | polypeptide N-acetylgalactosaminyltransferase 17 | Q6IS24 |
| C1510586 | Autism Spectrum Disorders | POMGNT1 | 55624 | protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Q8WZA1 |
| C1510586 | Autism Spectrum Disorders | ST8SIA2 | 8128 | ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2 | Q92186 |
| C1510586 | Autism Spectrum Disorders | IDS | 3423 | iduronate 2-sulfatase | P22304 |
| C1510586 | Autism Spectrum Disorders | ARSA | 410 | arylsulfatase A | P15289 |
| C1510586 | Autism Spectrum Disorders | IL1RAPL1 | 11141 | interleukin 1 receptor accessory protein like 1 | Q9NZN1 |
| C1510586 | Autism Spectrum Disorders | COMT | 1312 | catechol-O-methyltransferase | P21964 |
| C1510586 | Autism Spectrum Disorders | CS | 1431 | citrate synthase | O75390 |
| C1510586 | Autism Spectrum Disorders | ENO2 | 2026 | enolase 2 | P09104 |
| C1510586 | Autism Spectrum Disorders | IL1RAPL2 | 26280 | interleukin 1 receptor accessory protein like 2 | Q9NP60 |
| C1510586 | Autism Spectrum Disorders | IL1RAP | 3556 | interleukin 1 receptor accessory protein | Q9NPH3 |
| C1510586 | Autism Spectrum Disorders | LYZ | 4069 | lysozyme | P61626 |
| C1510586 | Autism Spectrum Disorders | LDHB | 3945 | lactate dehydrogenase B | P07195 |
| C1510586 | Autism Spectrum Disorders | OGG1 | 4968 | 8-oxoguanine DNA glycosylase | O15527 |
| C1510586 | Autism Spectrum Disorders | UGT1A1 | 54658 | UDP glucuronosyltransferase family 1 member A1 | P22309 |
| C1510586 | Autism Spectrum Disorders | CD38 | 952 | CD38 molecule | P28907 |
