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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 |
|---|---|---|---|---|---|
| C0279702 | Conventional (Clear Cell) Renal Cell Carcinoma | GOLPH3 | 64083 | golgi phosphoprotein 3 | Q9H4A6 |
| C0279702 | Conventional (Clear Cell) Renal Cell Carcinoma | SDHA | 6389 | succinate dehydrogenase complex flavoprotein subunit A | P31040 |
| C0279702 | Conventional (Clear Cell) Renal Cell Carcinoma | CRPPA | 729920 | CDP-L-ribitol pyrophosphorylase A | A4D126 |
| C0279702 | Conventional (Clear Cell) Renal Cell Carcinoma | BST2 | 684 | bone marrow stromal cell antigen 2 | Q10589 |
| C0279702 | Conventional (Clear Cell) Renal Cell Carcinoma | CA4 | 762 | carbonic anhydrase 4 | P22748 |
| C0009946 | Conversion disorder | ABO | 28 | ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase | P16442 |
| C0009946 | Conversion disorder | COMT | 1312 | catechol-O-methyltransferase | P21964 |
| C0009946 | Conversion disorder | ACHE | 43 | acetylcholinesterase (Cartwright blood group) | P22303 |
| C0009946 | Conversion disorder | MMUT | 4594 | methylmalonyl-CoA mutase | P22033 |
| C0009946 | Conversion disorder | PRNP | 5621 | prion protein | P04156 |
| C0009946 | Conversion disorder | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C0009946 | Conversion disorder | PRNP | 5621 | prion protein | F7VJQ1 |
| C4048158 | Convulsions | PIGM | 93183 | phosphatidylinositol glycan anchor biosynthesis class M | Q9H3S5 |
| C4048158 | Convulsions | GLB1 | 2720 | galactosidase beta 1 | P16278 |
| C4048158 | Convulsions | ENO2 | 2026 | enolase 2 | P09104 |
| C4048158 | Convulsions | G6PD | 2539 | glucose-6-phosphate dehydrogenase | P11413 |
| C4048158 | Convulsions | CD38 | 952 | CD38 molecule | P28907 |
| C4048158 | Convulsions | CHAT | 1103 | choline O-acetyltransferase | P28329 |
| C4048158 | Convulsions | DBT | 1629 | dihydrolipoamide branched chain transacylase E2 | P11182 |
| C4048158 | Convulsions | IMPA1 | 3612 | inositol monophosphatase 1 | P29218 |
| C4048158 | Convulsions | ACAT1 | 38 | acetyl-CoA acetyltransferase 1 | P24752 |
| C4048158 | Convulsions | ACHE | 43 | acetylcholinesterase (Cartwright blood group) | P22303 |
| C4048158 | Convulsions | PLA2G2A | 5320 | phospholipase A2 group IIA | P14555 |
| C4048158 | Convulsions | TMED9 | 54732 | transmembrane p24 trafficking protein 9 | Q9BVK6 |
| C4048158 | Convulsions | PLA2G10 | 8399 | phospholipase A2 group X | O15496 |
