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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 |
|---|---|---|---|---|---|
| C1834674 | BETHLEM MYOPATHY 1 | DAG1 | 1605 | dystroglycan 1 | Q14118 |
| C1834674 | BETHLEM MYOPATHY 1 | HSPG2 | 3339 | heparan sulfate proteoglycan 2 | P98160 |
| C3888198 | BESTROPHINOPATHY, AUTOSOMAL RECESSIVE | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C3888198 | BESTROPHINOPATHY, AUTOSOMAL RECESSIVE | CAT | 847 | catalase | P04040 |
| C3888198 | BESTROPHINOPATHY, AUTOSOMAL RECESSIVE | SLC33A1 | 9197 | solute carrier family 33 member 1 | O00400 |
| C4284594 | BAND HETEROTOPIA | PAFAH1B1 | 5048 | platelet activating factor acetylhydrolase 1b regulatory subunit 1 | P43034 |
| C0079731 | B-Cell Lymphomas | SLC35B2 | 347734 | solute carrier family 35 member B2 | Q8TB61 |
| C0079731 | B-Cell Lymphomas | GBA | 2629 | glucosylceramidase beta | P04062 |
| C0079731 | B-Cell Lymphomas | GLB1 | 2720 | galactosidase beta 1 | P16278 |
| C0079731 | B-Cell Lymphomas | CDS1 | 1040 | CDP-diacylglycerol synthase 1 | Q92903 |
| C0079731 | B-Cell Lymphomas | CHI3L1 | 1116 | chitinase 3 like 1 | P36222 |
| C0079731 | B-Cell Lymphomas | IL1RAPL1 | 11141 | interleukin 1 receptor accessory protein like 1 | Q9NZN1 |
| C0079731 | B-Cell Lymphomas | PARP1 | 142 | poly(ADP-ribose) polymerase 1 | P09874 |
| C0079731 | B-Cell Lymphomas | CS | 1431 | citrate synthase | O75390 |
| C0079731 | B-Cell Lymphomas | FCER2 | 2208 | Fc fragment of IgE receptor II | P06734 |
| C0079731 | B-Cell Lymphomas | FBP1 | 2203 | fructose-bisphosphatase 1 | P09467 |
| C0079731 | B-Cell Lymphomas | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C0079731 | B-Cell Lymphomas | G6PD | 2539 | glucose-6-phosphate dehydrogenase | P11413 |
| C0079731 | B-Cell Lymphomas | GBE1 | 2632 | 1,4-alpha-glucan branching enzyme 1 | Q04446 |
| C0079731 | B-Cell Lymphomas | GAPDH | 2597 | glyceraldehyde-3-phosphate dehydrogenase | P04406 |
| C0079731 | B-Cell Lymphomas | IDH1 | 3417 | isocitrate dehydrogenase (NADP(+)) 1 | O75874 |
| C0079731 | B-Cell Lymphomas | APRT | 353 | adenine phosphoribosyltransferase | P07741 |
| C0079731 | B-Cell Lymphomas | IL1R1 | 3554 | interleukin 1 receptor type 1 | P14778 |
| C0079731 | B-Cell Lymphomas | LDHA | 3939 | lactate dehydrogenase A | P00338 |
| C0079731 | B-Cell Lymphomas | PC | 5091 | pyruvate carboxylase | P11498 |
