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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 |
|---|---|---|---|---|---|
| C0271441 | Chronic otitis media | STS | 412 | steroid sulfatase | P08842 |
| C0271441 | Chronic otitis media | SULT2B1 | 6820 | sulfotransferase family 2B member 1 | O00204 |
| C0271441 | Chronic otitis media | TGDS | 23483 | TDP-glucose 4,6-dehydratase | O95455 |
| C0271441 | Chronic otitis media | OCRL | 4952 | OCRL inositol polyphosphate-5-phosphatase | Q01968 |
| C0271454 | Chronic purulent otitis media | CAT | 847 | catalase | P04040 |
| C0271514 | Low frequency deafness | TECTA | 7007 | tectorin alpha | O75443 |
| C0271561 | Somatotropin deficiency | XYLT1 | 64131 | xylosyltransferase 1 | Q86Y38 |
| C0271561 | Somatotropin deficiency | SRD5A3 | 79644 | steroid 5 alpha-reductase 3 | Q9H8P0 |
| C0271561 | Somatotropin deficiency | INPPL1 | 3636 | inositol polyphosphate phosphatase like 1 | O15357 |
| C0271561 | Somatotropin deficiency | AGPAT2 | 10555 | 1-acylglycerol-3-phosphate O-acyltransferase 2 | O15120 |
| C0271561 | Somatotropin deficiency | PNPLA6 | 10908 | patatin like phospholipase domain containing 6 | Q8IY17 |
| C0271561 | Somatotropin deficiency | LPL | 4023 | lipoprotein lipase | P06858 |
| C0271561 | Somatotropin deficiency | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C0271561 | Somatotropin deficiency | CYP3A4 | 1576 | cytochrome P450 family 3 subfamily A member 4 | P08684 |
| C0271561 | Somatotropin deficiency | CYP19A1 | 1588 | cytochrome P450 family 19 subfamily A member 1 | P11511 |
| C0271568 | Laron Syndrome | SLC35G1 | 159371 | solute carrier family 35 member G1 | Q2M3R5 |
| C0271568 | Laron Syndrome | SOAT1 | 6646 | sterol O-acyltransferase 1 | P35610 |
| C0271623 | Hypogonadotropic hypogonadism | HS6ST1 | 9394 | heparan sulfate 6-O-sulfotransferase 1 | O60243 |
| C0271623 | Hypogonadotropic hypogonadism | PMM2 | 5373 | phosphomannomutase 2 | O15305 |
| C0271623 | Hypogonadotropic hypogonadism | TYMP | 1890 | thymidine phosphorylase | P19971 |
| C0271623 | Hypogonadotropic hypogonadism | PNPLA6 | 10908 | patatin like phospholipase domain containing 6 | Q8IY17 |
| C0271623 | Hypogonadotropic hypogonadism | ADH5 | 128 | alcohol dehydrogenase 5 (class III), chi polypeptide | P11766 |
| C0271623 | Hypogonadotropic hypogonadism | HJV | 148738 | hemojuvelin BMP co-receptor | Q6ZVN8 |
| C0271623 | Hypogonadotropic hypogonadism | CYP17A1 | 1586 | cytochrome P450 family 17 subfamily A member 1 | P05093 |
| C0271623 | Hypogonadotropic hypogonadism | GK | 2710 | glycerol kinase | P32189 |
