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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 |
|---|---|---|---|---|---|
| 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 |
| C0155477 | Tympanosclerosis involving other combination of structures | ENPP1 | 5167 | ectonucleotide pyrophosphatase/phosphodiesterase 1 | P22413 |
| C1336839 | Type 1 Papillary Renal Cell Carcinoma | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0268226 | Type I Mucolipidosis | GLB1 | 2720 | galactosidase beta 1 | P16278 |
| 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 |
| C0020725 | Type II Mucolipidosis | DPAGT1 | 1798 | dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 | Q9H3H5 |
| C0020725 | Type II Mucolipidosis | GUSB | 2990 | glucuronidase beta | P08236 |
| C0020725 | Type II Mucolipidosis | IDUA | 3425 | alpha-L-iduronidase | P35475 |
| C0020725 | Type II Mucolipidosis | GNPTAB | 79158 | N-acetylglucosamine-1-phosphate transferase subunits alpha and beta | Q3T906 |
| C0020725 | Type II Mucolipidosis | OGA | 10724 | O-GlcNAcase | O60502 |
| C0020725 | Type II Mucolipidosis | IGF2R | 3482 | insulin like growth factor 2 receptor | P11717 |
