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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 |
|---|---|---|---|---|---|
| C0848676 | Subfertility, Male | PPT1 | 5538 | palmitoyl-protein thioesterase 1 | P50897 |
| C0848558 | Hypospadias | B3GLCT | 145173 | beta 3-glucosyltransferase | Q6Y288 |
| C0848558 | Hypospadias | PIGN | 23556 | phosphatidylinositol glycan anchor biosynthesis class N | O95427 |
| C0848558 | Hypospadias | LFNG | 3955 | LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase | Q8NES3 |
| C0848558 | Hypospadias | ALG12 | 79087 | ALG12 alpha-1,6-mannosyltransferase | Q9BV10 |
| C0848558 | Hypospadias | OGT | 8473 | O-linked N-acetylglucosamine (GlcNAc) transferase | O15294 |
| C0848558 | Hypospadias | COG1 | 9382 | component of oligomeric golgi complex 1 | Q8WTW3 |
| C0848558 | Hypospadias | COMT | 1312 | catechol-O-methyltransferase | P21964 |
| C0848558 | Hypospadias | SMC3 | 9126 | structural maintenance of chromosomes 3 | Q9UQE7 |
| C0848558 | Hypospadias | FIG4 | 9896 | FIG4 phosphoinositide 5-phosphatase | Q92562 |
| C0848558 | Hypospadias | DGKK | 139189 | diacylglycerol kinase kappa | Q5KSL6 |
| C0848558 | Hypospadias | CYP1A1 | 1543 | cytochrome P450 family 1 subfamily A member 1 | P04798 |
| C0848558 | Hypospadias | CYP17A1 | 1586 | cytochrome P450 family 17 subfamily A member 1 | P05093 |
| C0848558 | Hypospadias | CYP27B1 | 1594 | cytochrome P450 family 27 subfamily B member 1 | O15528 |
| C0848558 | Hypospadias | DHCR7 | 1717 | 7-dehydrocholesterol reductase | Q9UBM7 |
| 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 |
