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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 | NGLY1 | 55768 | N-glycanase 1 | Q96IV0 |
| C0271270 | Oculovestibuloauditory syndrome | PIGL | 9487 | phosphatidylinositol glycan anchor biosynthesis class L | Q9Y2B2 |
| C0271270 | Oculovestibuloauditory syndrome | PIGY | 84992 | phosphatidylinositol glycan anchor biosynthesis class Y | Q3MUY2 |
| C0271270 | Oculovestibuloauditory syndrome | PGAP2 | 27315 | post-GPI attachment to proteins 2 | Q9UHJ9 |
| C0796059 | Oculopalatoskeletal syndrome | MASP1 | 5648 | mannan binding lectin serine peptidase 1 | P48740 |
| C0796059 | Oculopalatoskeletal syndrome | COLEC11 | 78989 | collectin subfamily member 11 | Q9BWP8 |
| C0028866 | Oculomotor Nerve Paralysis | ACSM3 | 6296 | acyl-CoA synthetase medium chain family member 3 | Q53FZ2 |
| C4551504 | Oculocutaneous albinism type 1A | NAGLU | 4669 | N-acetyl-alpha-glucosaminidase | P54802 |
| C0268494 | Oculocutaneous albinism type 1 | CALR | 811 | calreticulin | P27797 |
| C0268494 | Oculocutaneous albinism type 1 | CANX | 821 | calnexin | P27824 |
| C0028860 | Oculocerebrorenal Syndrome | NAGLU | 4669 | N-acetyl-alpha-glucosaminidase | P54802 |
| C0028860 | Oculocerebrorenal Syndrome | G6PD | 2539 | glucose-6-phosphate dehydrogenase | P11413 |
| C0028860 | Oculocerebrorenal Syndrome | HPRT1 | 3251 | hypoxanthine phosphoribosyltransferase 1 | P00492 |
| C0028860 | Oculocerebrorenal Syndrome | INPP5E | 56623 | inositol polyphosphate-5-phosphatase E | Q9NRR6 |
| C0028860 | Oculocerebrorenal Syndrome | INPP5D | 3635 | inositol polyphosphate-5-phosphatase D | Q92835 |
| C0028860 | Oculocerebrorenal Syndrome | ARSH | 347527 | arylsulfatase family member H | Q5FYA8 |
| C0028860 | Oculocerebrorenal Syndrome | INPP5K | 51763 | inositol polyphosphate-5-phosphatase K | Q9BT40 |
| C0028860 | Oculocerebrorenal Syndrome | INPP5A | 3632 | inositol polyphosphate-5-phosphatase A | Q14642 |
| C0028860 | Oculocerebrorenal Syndrome | MTM1 | 4534 | myotubularin 1 | Q13496 |
| C0028860 | Oculocerebrorenal Syndrome | OCRL | 4952 | OCRL inositol polyphosphate-5-phosphatase | Q01968 |
| C0028860 | Oculocerebrorenal Syndrome | PAFAH1B1 | 5048 | platelet activating factor acetylhydrolase 1b regulatory subunit 1 | P43034 |
| C0028860 | Oculocerebrorenal Syndrome | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0812437 | Oculo-dento-digital syndrome | CYP1B1 | 1545 | cytochrome P450 family 1 subfamily B member 1 | Q16678 |
| C0268505 | Ocular albinism, type II | GK | 2710 | glycerol kinase | P32189 |
| C0342684 | Ocular albinism, type I | STS | 412 | steroid sulfatase | P08842 |
