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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 |
|---|---|---|---|---|---|
| C0037822 | Speech Disorders | GBA | 2629 | glucosylceramidase beta | P04062 |
| C0037822 | Speech Disorders | MANBA | 4126 | mannosidase beta | O00462 |
| C0037822 | Speech Disorders | ASAH1 | 427 | N-acylsphingosine amidohydrolase 1 | Q13510 |
| C0037822 | Speech Disorders | NEU1 | 4758 | neuraminidase 1 | Q99519 |
| C0037822 | Speech Disorders | GMPPB | 29925 | GDP-mannose pyrophosphorylase B | Q9Y5P6 |
| C0037822 | Speech Disorders | HK1 | 3098 | hexokinase 1 | P19367 |
| C0037822 | Speech Disorders | CALR | 811 | calreticulin | P27797 |
| C0037822 | Speech Disorders | SMC3 | 9126 | structural maintenance of chromosomes 3 | Q9UQE7 |
| C0037822 | Speech Disorders | PNPLA6 | 10908 | patatin like phospholipase domain containing 6 | Q8IY17 |
| C0037822 | Speech Disorders | CNTN4 | 152330 | contactin 4 | Q8IWV2 |
| C0037822 | Speech Disorders | FH | 2271 | fumarate hydratase | P07954 |
| C0037822 | Speech Disorders | GCDH | 2639 | glutaryl-CoA dehydrogenase | Q92947 |
| C0037822 | Speech Disorders | STS | 412 | steroid sulfatase | P08842 |
| C0037822 | Speech Disorders | TBXAS1 | 6916 | thromboxane A synthase 1 | P24557 |
| C0037822 | Speech Disorders | CPT1A | 1374 | carnitine palmitoyltransferase 1A | P50416 |
| C0037822 | Speech Disorders | GPC3 | 2719 | glypican 3 | P51654 |
| C0037822 | Speech Disorders | ACOX1 | 51 | acyl-CoA oxidase 1 | Q15067 |
| C0037822 | Speech Disorders | CYP27A1 | 1593 | cytochrome P450 family 27 subfamily A member 1 | Q02318 |
| C0037822 | Speech Disorders | ALDH7A1 | 501 | aldehyde dehydrogenase 7 family member A1 | P49419 |
| C0037822 | Speech Disorders | PAFAH1B1 | 5048 | platelet activating factor acetylhydrolase 1b regulatory subunit 1 | P43034 |
| C0037822 | Speech Disorders | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0037856 | Spermatic Cord Torsion | B4GALT7 | 11285 | beta-1,4-galactosyltransferase 7 | Q9UBV7 |
| C0037856 | Spermatic Cord Torsion | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C0037856 | Spermatic Cord Torsion | ACOT7 | 11332 | acyl-CoA thioesterase 7 | O00154 |
| C0037856 | Spermatic Cord Torsion | HSPG2 | 3339 | heparan sulfate proteoglycan 2 | P98160 |
