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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 |
|---|---|---|---|---|---|
| C0431663 | Bilateral Cryptorchidism | MASP1 | 5648 | mannan binding lectin serine peptidase 1 | P48740 |
| C0431663 | Bilateral Cryptorchidism | COLEC11 | 78989 | collectin subfamily member 11 | Q9BWP8 |
| C0431399 | Familial aplasia of the vermis | GYS2 | 2998 | glycogen synthase 2 | P54840 |
| C0431399 | Familial aplasia of the vermis | INPP5E | 56623 | inositol polyphosphate-5-phosphatase E | Q9NRR6 |
| C0431399 | Familial aplasia of the vermis | SYNJ1 | 8867 | synaptojanin 1 | O43426 |
| C0431399 | Familial aplasia of the vermis | SYNJ2 | 8871 | synaptojanin 2 | O15056 |
| C0431399 | Familial aplasia of the vermis | INPP5B | 3633 | inositol polyphosphate-5-phosphatase B | P32019 |
| C0431375 | Classical Lissencephaly | COMT | 1312 | catechol-O-methyltransferase | P21964 |
| C0431375 | Classical Lissencephaly | PAFAH1B1 | 5048 | platelet activating factor acetylhydrolase 1b regulatory subunit 1 | P43034 |
| C0431363 | Alobar Holoprosencephaly | GAS1 | 2619 | growth arrest specific 1 | P54826 |
| C0431362 | Lobar Holoprosencephaly | GAS1 | 2619 | growth arrest specific 1 | P54826 |
| C0431129 | Adamantinous Craniopharyngioma | CEL | 1056 | carboxyl ester lipase | P19835 |
| C0431129 | Adamantinous Craniopharyngioma | NDUFAB1 | 4706 | NADH:ubiquinone oxidoreductase subunit AB1 | O14561 |
| C0431129 | Adamantinous Craniopharyngioma | CD44 | 960 | CD44 molecule (Indian blood group) | P16070 |
| C0431129 | Adamantinous Craniopharyngioma | CYP2E1 | 1571 | cytochrome P450 family 2 subfamily E member 1 | P05181 |
| C0431128 | Papillary craniopharyngioma | ATP6AP2 | 10159 | ATPase H+ transporting accessory protein 2 | O75787 |
| C0431128 | Papillary craniopharyngioma | GAD1 | 2571 | glutamate decarboxylase 1 | Q99259 |
| C0431128 | Papillary craniopharyngioma | GPX1 | 2876 | glutathione peroxidase 1 | P07203 |
| C0431121 | Clear Cell Meningioma | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0431108 | Anaplastic Oligoastrocytoma | IDH1 | 3417 | isocitrate dehydrogenase (NADP(+)) 1 | O75874 |
| C0431108 | Anaplastic Oligoastrocytoma | STS | 412 | steroid sulfatase | P08842 |
| C0431108 | Anaplastic Oligoastrocytoma | IDH2 | 3418 | isocitrate dehydrogenase (NADP(+)) 2 | P48735 |
| C0428908 | Sinus Node Dysfunction (disorder) | GPD1L | 23171 | glycerol-3-phosphate dehydrogenase 1 like | Q8N335 |
| C0428908 | Sinus Node Dysfunction (disorder) | APRT | 353 | adenine phosphoribosyltransferase | P07741 |
| C0428908 | Sinus Node Dysfunction (disorder) | CACNA2D1 | 781 | calcium voltage-gated channel auxiliary subunit alpha2delta 1 | P54289 |
