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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 |
|---|---|---|---|---|---|
| C0038506 | Stuttering | NAGPA | 51172 | N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase | Q9UK23 |
| C0038506 | Stuttering | GNPTG | 84572 | N-acetylglucosamine-1-phosphate transferase subunit gamma | Q9UJJ9 |
| C0038506 | Stuttering | DLD | 1738 | dihydrolipoamide dehydrogenase | P09622 |
| C0038506 | Stuttering | PTGDS | 5730 | prostaglandin D2 synthase | P41222 |
| C0751529 | Stuttering, Developmental | CYP19A1 | 1588 | cytochrome P450 family 19 subfamily A member 1 | P11511 |
| C0546953 | Subacromial bursitis | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C0014122 | Subacute Bacterial Endocarditis | GPX1 | 2876 | glutathione peroxidase 1 | P07203 |
| C0014122 | Subacute Bacterial Endocarditis | AGXT | 189 | alanine--glyoxylate and serine--pyruvate aminotransferase | P21549 |
| C0038522 | Subacute Sclerosing Panencephalitis | PGM3 | 5238 | phosphoglucomutase 3 | O95394 |
| C0038522 | Subacute Sclerosing Panencephalitis | SDC1 | 6382 | syndecan 1 | P18827 |
| C0038522 | Subacute Sclerosing Panencephalitis | CD38 | 952 | CD38 molecule | P28907 |
| C0038522 | Subacute Sclerosing Panencephalitis | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C0038522 | Subacute Sclerosing Panencephalitis | GLO1 | 2739 | glyoxalase I | Q04760 |
| C0040149 | Subacute thyroiditis | GUSB | 2990 | glucuronidase beta | P08236 |
| C0040149 | Subacute thyroiditis | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C1848201 | Subcortical Band Heterotopia | ALPP | 250 | alkaline phosphatase, placental | P05187 |
| C1848201 | Subcortical Band Heterotopia | SLC17A5 | 26503 | solute carrier family 17 member 5 | Q9NRA2 |
| C1848201 | Subcortical Band Heterotopia | ATRNL1 | 26033 | attractin like 1 | Q5VV63 |
| C1848201 | Subcortical Band Heterotopia | PAFAH1B1 | 5048 | platelet activating factor acetylhydrolase 1b regulatory subunit 1 | P43034 |
| C1848201 | Subcortical Band Heterotopia | OCRL | 4952 | OCRL inositol polyphosphate-5-phosphatase | Q01968 |
| C0205768 | Subependymal Giant Cell Astrocytoma | PKD1 | 5310 | polycystin 1, transient receptor potential channel interacting | P98161 |
| C0729353 | Subfertility | ABO | 28 | ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase | P16442 |
| C0729353 | Subfertility | KL | 9365 | klotho | Q9UEF7 |
| C0729353 | Subfertility | ACOT7 | 11332 | acyl-CoA thioesterase 7 | O00154 |
| C0729353 | Subfertility | CD14 | 929 | CD14 molecule | P08571 |
