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 |
---|---|---|---|---|---|
C0033687 | Proteinuria | EHHADH | 1962 | enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase | Q08426 |
C0033687 | Proteinuria | DLST | 1743 | dihydrolipoamide S-succinyltransferase | P36957 |
C0033687 | Proteinuria | OCRL | 4952 | OCRL inositol polyphosphate-5-phosphatase | Q01968 |
C0033687 | Proteinuria | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
C0033687 | Proteinuria | SDHA | 6389 | succinate dehydrogenase complex flavoprotein subunit A | P31040 |
C0033687 | Proteinuria | DGKE | 8526 | diacylglycerol kinase epsilon | P52429 |
C0085261 | Proteus Syndrome | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
C0085261 | Proteus Syndrome | SELE | 6401 | selectin E | P16581 |
C0085261 | Proteus Syndrome | SELP | 6403 | selectin P | P16109 |
C0085261 | Proteus Syndrome | GPC3 | 2719 | glypican 3 | P51654 |
C0085261 | Proteus Syndrome | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
C0085261 | Proteus Syndrome | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
C0085261 | Proteus Syndrome | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
C0085261 | Proteus Syndrome | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
C1866398 | Proteus-Like Syndrome (disorder) | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
C1866398 | Proteus-Like Syndrome (disorder) | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
C0334580 | Protoplasmic astrocytoma | IDH2 | 3418 | isocitrate dehydrogenase (NADP(+)) 2 | P48735 |
C0334580 | Protoplasmic astrocytoma | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
C0033740 | Protozoan Infections | HK1 | 3098 | hexokinase 1 | P19367 |
C0033740 | Protozoan Infections | CYP51A1 | 1595 | cytochrome P450 family 51 subfamily A member 1 | Q16850 |
C0033770 | Prune Belly Syndrome | PARP1 | 142 | poly(ADP-ribose) polymerase 1 | P09874 |
C0033770 | Prune Belly Syndrome | SMC3 | 9126 | structural maintenance of chromosomes 3 | Q9UQE7 |
C0033770 | Prune Belly Syndrome | ACAN | 176 | aggrecan | P16112 |
C0033770 | Prune Belly Syndrome | ALDH2 | 217 | aldehyde dehydrogenase 2 family member | P05091 |
C0033770 | Prune Belly Syndrome | ICAM1 | 3383 | intercellular adhesion molecule 1 | P05362 |
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Last updated: August 19, 2024