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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 |
|---|---|---|---|---|---|
| C0848558 | Hypospadias | PLA2G15 | 23659 | phospholipase A2 group XV | Q8NCC3 |
| C0848558 | Hypospadias | HSD3B2 | 3284 | hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 | P26439 |
| C0848558 | Hypospadias | CD44 | 960 | CD44 molecule (Indian blood group) | P16070 |
| C0848558 | Hypospadias | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C0848558 | Hypospadias | CYP1B1 | 1545 | cytochrome P450 family 1 subfamily B member 1 | Q16678 |
| C0848558 | Hypospadias | CYP11A1 | 1583 | cytochrome P450 family 11 subfamily A member 1 | P05108 |
| C0848558 | Hypospadias | CYP19A1 | 1588 | cytochrome P450 family 19 subfamily A member 1 | P11511 |
| C0848558 | Hypospadias | CYP21A2 | 1589 | cytochrome P450 family 21 subfamily A member 2 | P08686 |
| C0848558 | Hypospadias | HSD17B3 | 3293 | hydroxysteroid 17-beta dehydrogenase 3 | P37058 |
| C0848558 | Hypospadias | ARSD | 414 | arylsulfatase D | P51689 |
| C0848558 | Hypospadias | HSD17B7 | 51478 | hydroxysteroid 17-beta dehydrogenase 7 | P56937 |
| C0848558 | Hypospadias | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| C0848558 | Hypospadias | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C0848558 | Hypospadias | SRD5A2 | 6716 | steroid 5 alpha-reductase 2 | P31213 |
| C0848558 | Hypospadias | SRD5A1 | 6715 | steroid 5 alpha-reductase 1 | P18405 |
| C0848558 | Hypospadias | DHRS11 | 79154 | dehydrogenase/reductase 11 | Q6UWP2 |
| C0848558 | Hypospadias | PTDSS1 | 9791 | phosphatidylserine synthase 1 | P48651 |
| C0848676 | Subfertility, Male | ENO1 | 2023 | enolase 1 | P06733 |
| C0848676 | Subfertility, Male | ENO4 | 387712 | enolase 4 | A6NNW6 |
| C0848676 | Subfertility, Male | OGG1 | 4968 | 8-oxoguanine DNA glycosylase | O15527 |
| C0848676 | Subfertility, Male | CYP1A1 | 1543 | cytochrome P450 family 1 subfamily A member 1 | P04798 |
| C0848676 | Subfertility, Male | CYP17A1 | 1586 | cytochrome P450 family 17 subfamily A member 1 | P05093 |
| C0848676 | Subfertility, Male | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C0848676 | Subfertility, Male | LDHC | 3948 | lactate dehydrogenase C | P07864 |
| C0848676 | Subfertility, Male | PPT1 | 5538 | palmitoyl-protein thioesterase 1 | P50897 |
