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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 |
|---|---|---|---|---|---|
| C1275126 | TNF receptor-associated periodic fever syndrome (TRAPS) | SIGLEC7 | 27036 | sialic acid binding Ig like lectin 7 | Q9Y286 |
| C1275126 | TNF receptor-associated periodic fever syndrome (TRAPS) | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
| C1275126 | TNF receptor-associated periodic fever syndrome (TRAPS) | CD14 | 929 | CD14 molecule | P08571 |
| C1275126 | TNF receptor-associated periodic fever syndrome (TRAPS) | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C1275126 | TNF receptor-associated periodic fever syndrome (TRAPS) | IL18R1 | 8809 | interleukin 18 receptor 1 | Q13478 |
| C1275126 | TNF receptor-associated periodic fever syndrome (TRAPS) | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| C1275126 | TNF receptor-associated periodic fever syndrome (TRAPS) | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C1275273 | Familial Multiple Lipomatosis | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C1275278 | Extraskeletal Myxoid Chondrosarcoma | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C1275668 | Melanotic medulloblastoma | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C1275685 | Avellino corneal dystrophy | PARP1 | 142 | poly(ADP-ribose) polymerase 1 | P09874 |
| C1275685 | Avellino corneal dystrophy | SDC1 | 6382 | syndecan 1 | P18827 |
| C1275685 | Avellino corneal dystrophy | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C1275685 | Avellino corneal dystrophy | GCDH | 2639 | glutaryl-CoA dehydrogenase | Q92947 |
| C1275685 | Avellino corneal dystrophy | CAT | 847 | catalase | P04040 |
| C1275685 | Avellino corneal dystrophy | CD1D | 912 | CD1d molecule | P15813 |
| C1275685 | Avellino corneal dystrophy | LPIN2 | 9663 | lipin 2 | Q92539 |
| C1275808 | Congenital central hypoventilation | SLC2A10 | 81031 | solute carrier family 2 member 10 | O95528 |
| C1276035 | Pena-Shokeir syndrome type I | DPAGT1 | 1798 | dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 | Q9H3H5 |
| C1276035 | Pena-Shokeir syndrome type I | PIGS | 94005 | phosphatidylinositol glycan anchor biosynthesis class S | Q96S52 |
| C1276035 | Pena-Shokeir syndrome type I | GBA | 2629 | glucosylceramidase beta | P04062 |
| C1276035 | Pena-Shokeir syndrome type I | GBE1 | 2632 | 1,4-alpha-glucan branching enzyme 1 | Q04446 |
| C1276035 | Pena-Shokeir syndrome type I | PDHA1 | 5160 | pyruvate dehydrogenase E1 subunit alpha 1 | P08559 |
| C1276035 | Pena-Shokeir syndrome type I | AGRN | 375790 | agrin | O00468 |
| C1276035 | Pena-Shokeir syndrome type I | CNTN1 | 1272 | contactin 1 | Q12860 |
