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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 |
|---|---|---|---|---|---|
| C0020621 | Hypokalemia | CYP17A1 | 1586 | cytochrome P450 family 17 subfamily A member 1 | P05093 |
| C0020621 | Hypokalemia | SLC2A2 | 6514 | solute carrier family 2 member 2 | P11168 |
| C0020621 | Hypokalemia | CYP11B2 | 1585 | cytochrome P450 family 11 subfamily B member 2 | P19099 |
| C0020621 | Hypokalemia | CYP11B1 | 1584 | cytochrome P450 family 11 subfamily B member 1 | P15538 |
| C0020621 | Hypokalemia | HSD11B2 | 3291 | hydroxysteroid 11-beta dehydrogenase 2 | P80365 |
| C0020621 | Hypokalemia | OCRL | 4952 | OCRL inositol polyphosphate-5-phosphatase | Q01968 |
| C0020620 | Hypohidrosis | GLA | 2717 | galactosidase alpha | P06280 |
| C0020620 | Hypohidrosis | HEXB | 3074 | hexosaminidase subunit beta | P07686 |
| C0020620 | Hypohidrosis | COG6 | 57511 | component of oligomeric golgi complex 6 | Q9Y2V7 |
| C0020620 | Hypohidrosis | CEACAM5 | 1048 | CEA cell adhesion molecule 5 | P06731 |
| C0020620 | Hypohidrosis | CTNS | 1497 | cystinosin, lysosomal cystine transporter | O60931 |
| C0020620 | Hypohidrosis | CERS3 | 204219 | ceramide synthase 3 | Q8IU89 |
| C0020620 | Hypohidrosis | ALOX12B | 242 | arachidonate 12-lipoxygenase, 12R type | O75342 |
| C0020620 | Hypohidrosis | STS | 412 | steroid sulfatase | P08842 |
| C0020620 | Hypohidrosis | ELOVL4 | 6785 | ELOVL fatty acid elongase 4 | Q9GZR5 |
| C0020619 | Hypogonadism | POMGNT1 | 55624 | protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Q8WZA1 |
| C0020619 | Hypogonadism | ALG1 | 56052 | ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase | Q9BT22 |
| C0020619 | Hypogonadism | HGSNAT | 138050 | heparan-alpha-glucosaminide N-acetyltransferase | Q68CP4 |
| C0020619 | Hypogonadism | IDH3B | 3420 | isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta | O43837 |
| C0020619 | Hypogonadism | SLC3A1 | 6519 | solute carrier family 3 member 1 | Q07837 |
| C0020619 | Hypogonadism | PNPLA6 | 10908 | patatin like phospholipase domain containing 6 | Q8IY17 |
| C0020619 | Hypogonadism | HJV | 148738 | hemojuvelin BMP co-receptor | Q6ZVN8 |
| C0020619 | Hypogonadism | CTNS | 1497 | cystinosin, lysosomal cystine transporter | O60931 |
| C0020619 | Hypogonadism | CYP17A1 | 1586 | cytochrome P450 family 17 subfamily A member 1 | P05093 |
| C0020619 | Hypogonadism | ALPP | 250 | alkaline phosphatase, placental | P05187 |
