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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 |
|---|---|---|---|---|---|
| C0546837 | Malignant neoplasm of esophagus | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C0546837 | Malignant neoplasm of esophagus | PRKAA2 | 5563 | protein kinase AMP-activated catalytic subunit alpha 2 | P54646 |
| C0546837 | Malignant neoplasm of esophagus | LY6K | 54742 | lymphocyte antigen 6 family member K | Q17RY6 |
| C0546837 | Malignant neoplasm of esophagus | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0546837 | Malignant neoplasm of esophagus | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C0546837 | Malignant neoplasm of esophagus | GOLPH3 | 64083 | golgi phosphoprotein 3 | Q9H4A6 |
| C0546837 | Malignant neoplasm of esophagus | SHMT2 | 6472 | serine hydroxymethyltransferase 2 | P34897 |
| C0546837 | Malignant neoplasm of esophagus | SOAT1 | 6646 | sterol O-acyltransferase 1 | P35610 |
| C0546953 | Subacromial bursitis | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C0547065 | Mixed oligoastrocytoma | IDH1 | 3417 | isocitrate dehydrogenase (NADP(+)) 1 | O75874 |
| C0547065 | Mixed oligoastrocytoma | IDH2 | 3418 | isocitrate dehydrogenase (NADP(+)) 2 | P48735 |
| C0549423 | Obstructive Hydrocephalus | CRPPA | 729920 | CDP-L-ribitol pyrophosphorylase A | A4D126 |
| C0549463 | X-Linked Lymphoproliferative Disorder | FUT1 | 2523 | fucosyltransferase 1 (H blood group) | P19526 |
| C0549463 | X-Linked Lymphoproliferative Disorder | HPRT1 | 3251 | hypoxanthine phosphoribosyltransferase 1 | P00492 |
| C0549463 | X-Linked Lymphoproliferative Disorder | HPGDS | 27306 | hematopoietic prostaglandin D synthase | O60760 |
| C0549463 | X-Linked Lymphoproliferative Disorder | PLCG1 | 5335 | phospholipase C gamma 1 | P19174 |
| C0549463 | X-Linked Lymphoproliferative Disorder | CD1D | 912 | CD1d molecule | P15813 |
| C0549473 | Thyroid carcinoma | ABO | 28 | ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase | P16442 |
| C0549473 | Thyroid carcinoma | FUCA1 | 2517 | alpha-L-fucosidase 1 | P04066 |
| C0549473 | Thyroid carcinoma | GLB1 | 2720 | galactosidase beta 1 | P16278 |
| C0549473 | Thyroid carcinoma | IDUA | 3425 | alpha-L-iduronidase | P35475 |
| C0549473 | Thyroid carcinoma | ARSA | 410 | arylsulfatase A | P15289 |
| C0549473 | Thyroid carcinoma | ASAH1 | 427 | N-acylsphingosine amidohydrolase 1 | Q13510 |
| C0549473 | Thyroid carcinoma | HPSE | 10855 | heparanase | Q9Y251 |
| C0549473 | Thyroid carcinoma | PARP1 | 142 | poly(ADP-ribose) polymerase 1 | P09874 |
