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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 |
|---|---|---|---|---|---|
| C0020225 | Hydranencephaly | HSPG2 | 3339 | heparan sulfate proteoglycan 2 | P98160 |
| C0020225 | Hydranencephaly | SDC2 | 6383 | syndecan 2 | P34741 |
| C0020224 | Polyhydramnios | B3GLCT | 145173 | beta 3-glucosyltransferase | Q6Y288 |
| C0020224 | Polyhydramnios | PIGN | 23556 | phosphatidylinositol glycan anchor biosynthesis class N | O95427 |
| C0020224 | Polyhydramnios | SLC35D1 | 23169 | solute carrier family 35 member D1 | Q9NTN3 |
| C0020224 | Polyhydramnios | FUT8 | 2530 | fucosyltransferase 8 | Q9BYC5 |
| C0020224 | Polyhydramnios | ALG8 | 79053 | ALG8 alpha-1,3-glucosyltransferase | Q9BVK2 |
| C0020224 | Polyhydramnios | ALG12 | 79087 | ALG12 alpha-1,6-mannosyltransferase | Q9BV10 |
| C0020224 | Polyhydramnios | SLC26A2 | 1836 | solute carrier family 26 member 2 | P50443 |
| C0020224 | Polyhydramnios | GBA | 2629 | glucosylceramidase beta | P04062 |
| C0020224 | Polyhydramnios | PMM2 | 5373 | phosphomannomutase 2 | O15305 |
| C0020224 | Polyhydramnios | COMT | 1312 | catechol-O-methyltransferase | P21964 |
| C0020224 | Polyhydramnios | GBE1 | 2632 | 1,4-alpha-glucan branching enzyme 1 | Q04446 |
| C0020224 | Polyhydramnios | INPPL1 | 3636 | inositol polyphosphate phosphatase like 1 | O15357 |
| C0020224 | Polyhydramnios | FIG4 | 9896 | FIG4 phosphoinositide 5-phosphatase | Q92562 |
| C0020224 | Polyhydramnios | CHAT | 1103 | choline O-acetyltransferase | P28329 |
| C0020224 | Polyhydramnios | DHCR7 | 1717 | 7-dehydrocholesterol reductase | Q9UBM7 |
| C0020224 | Polyhydramnios | ALPL | 249 | alkaline phosphatase, biomineralization associated | P05186 |
| C0020224 | Polyhydramnios | AGRN | 375790 | agrin | O00468 |
| C0020224 | Polyhydramnios | MTMR14 | 64419 | myotubularin related protein 14 | Q8NCE2 |
| C0020224 | Polyhydramnios | HACD1 | 9200 | 3-hydroxyacyl-CoA dehydratase 1 | B0YJ81 |
| C0020224 | Polyhydramnios | PIGY | 84992 | phosphatidylinositol glycan anchor biosynthesis class Y | Q3MUY2 |
| C0020224 | Polyhydramnios | DPM2 | 8818 | dolichyl-phosphate mannosyltransferase subunit 2, regulatory | O94777 |
| C0020224 | Polyhydramnios | GPC3 | 2719 | glypican 3 | P51654 |
| C0020224 | Polyhydramnios | HSPG2 | 3339 | heparan sulfate proteoglycan 2 | P98160 |
