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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 |
|---|---|---|---|---|---|
| C0271270 | Oculovestibuloauditory syndrome | PGAP2 | 27315 | post-GPI attachment to proteins 2 | Q9UHJ9 |
| C1527395 | Ogilvie Syndrome | ACHE | 43 | acetylcholinesterase (Cartwright blood group) | P22303 |
| C1335107 | Olfactory Groove Meningioma | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0206717 | Olfactory Neuroblastoma | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C0206717 | Olfactory Neuroblastoma | IDH2 | 3418 | isocitrate dehydrogenase (NADP(+)) 2 | P48735 |
| C1335110 | Oligodendroglial Neoplasm | IDH1 | 3417 | isocitrate dehydrogenase (NADP(+)) 1 | O75874 |
| C1335110 | Oligodendroglial Neoplasm | IDH2 | 3418 | isocitrate dehydrogenase (NADP(+)) 2 | P48735 |
| C4082304 | Oligodontia | CHSY1 | 22856 | chondroitin sulfate synthase 1 | Q86X52 |
| C4082304 | Oligodontia | PIK3C2A | 5286 | phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha | O00443 |
| C0079924 | Oligohydramnios | POMT1 | 10585 | protein O-mannosyltransferase 1 | Q9Y6A1 |
| C0079924 | Oligohydramnios | PIGW | 284098 | phosphatidylinositol glycan anchor biosynthesis class W | Q7Z7B1 |
| C0079924 | Oligohydramnios | PIGV | 55650 | phosphatidylinositol glycan anchor biosynthesis class V | Q9NUD9 |
| C0079924 | Oligohydramnios | ALG8 | 79053 | ALG8 alpha-1,3-glucosyltransferase | Q9BVK2 |
| C0079924 | Oligohydramnios | PIGO | 84720 | phosphatidylinositol glycan anchor biosynthesis class O | Q8TEQ8 |
| C0079924 | Oligohydramnios | COG5 | 10466 | component of oligomeric golgi complex 5 | Q9UP83 |
| C0079924 | Oligohydramnios | GMPPB | 29925 | GDP-mannose pyrophosphorylase B | Q9Y5P6 |
| C0079924 | Oligohydramnios | PGAP3 | 93210 | post-GPI attachment to proteins phospholipase 3 | Q96FM1 |
| C0079924 | Oligohydramnios | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C0079924 | Oligohydramnios | DHCR7 | 1717 | 7-dehydrocholesterol reductase | Q9UBM7 |
| C0079924 | Oligohydramnios | GCDH | 2639 | glutaryl-CoA dehydrogenase | Q92947 |
| C0079924 | Oligohydramnios | PIGL | 9487 | phosphatidylinositol glycan anchor biosynthesis class L | Q9Y2B2 |
| C0079924 | Oligohydramnios | PIGY | 84992 | phosphatidylinositol glycan anchor biosynthesis class Y | Q3MUY2 |
| C0079924 | Oligohydramnios | PGAP2 | 27315 | post-GPI attachment to proteins 2 | Q9UHJ9 |
| C0079924 | Oligohydramnios | TALDO1 | 6888 | transaldolase 1 | P37837 |
| C0178426 | Oligohydramnios sequence | ACE | 1636 | angiotensin I converting enzyme | P12821 |
