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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 |
|---|---|---|---|---|---|
| C0268226 | Type I Mucolipidosis | NEU1 | 4758 | neuraminidase 1 | Q99519 |
| C0268226 | Type I Mucolipidosis | CTSA | 5476 | cathepsin A | P10619 |
| C0268226 | Type I Mucolipidosis | CHIT1 | 1118 | chitinase 1 | Q13231 |
| C0268226 | Type I Mucolipidosis | HPRT1 | 3251 | hypoxanthine phosphoribosyltransferase 1 | P00492 |
| C0268226 | Type I Mucolipidosis | CYP21A2 | 1589 | cytochrome P450 family 21 subfamily A member 2 | P08686 |
| C1336839 | Type 1 Papillary Renal Cell Carcinoma | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0155477 | Tympanosclerosis involving other combination of structures | ENPP1 | 5167 | ectonucleotide pyrophosphatase/phosphodiesterase 1 | P22413 |
| C0041408 | Turner Syndrome | ASAH1 | 427 | N-acylsphingosine amidohydrolase 1 | Q13510 |
| C0041408 | Turner Syndrome | MOGS | 7841 | mannosyl-oligosaccharide glucosidase | Q13724 |
| C0041408 | Turner Syndrome | GAPDH | 2597 | glyceraldehyde-3-phosphate dehydrogenase | P04406 |
| C0041408 | Turner Syndrome | INPPL1 | 3636 | inositol polyphosphate phosphatase like 1 | O15357 |
| C0041408 | Turner Syndrome | SMC3 | 9126 | structural maintenance of chromosomes 3 | Q9UQE7 |
| C0041408 | Turner Syndrome | CD38 | 952 | CD38 molecule | P28907 |
| C0041408 | Turner Syndrome | MBL2 | 4153 | mannose binding lectin 2 | P11226 |
| C0041408 | Turner Syndrome | NT5E | 4907 | 5'-nucleotidase ecto | P21589 |
| C0041408 | Turner Syndrome | CAT | 847 | catalase | P04040 |
| C0041408 | Turner Syndrome | PGD | 5226 | phosphogluconate dehydrogenase | P52209 |
| C0041408 | Turner Syndrome | CYP19A1 | 1588 | cytochrome P450 family 19 subfamily A member 1 | P11511 |
| C0041408 | Turner Syndrome | CYP21A2 | 1589 | cytochrome P450 family 21 subfamily A member 2 | P08686 |
| C0041408 | Turner Syndrome | PCYT1A | 5130 | phosphate cytidylyltransferase 1, choline, alpha | P49585 |
| C0041408 | Turner Syndrome | SRD5A2 | 6716 | steroid 5 alpha-reductase 2 | P31213 |
| C0001618 | Tumors of Adrenal Cortex | AKR1B1 | 231 | aldo-keto reductase family 1 member B | P15121 |
| C0001618 | Tumors of Adrenal Cortex | IDH1 | 3417 | isocitrate dehydrogenase (NADP(+)) 1 | O75874 |
| C0001618 | Tumors of Adrenal Cortex | AKR1B10 | 57016 | aldo-keto reductase family 1 member B10 | O60218 |
| C0001618 | Tumors of Adrenal Cortex | IDH2 | 3418 | isocitrate dehydrogenase (NADP(+)) 2 | P48735 |
