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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 |
|---|---|---|---|---|---|
| C0004352 | Autistic Disorder | SOAT1 | 6646 | sterol O-acyltransferase 1 | P35610 |
| C0004352 | Autistic Disorder | ALDH5A1 | 7915 | aldehyde dehydrogenase 5 family member A1 | P51649 |
| C0004352 | Autistic Disorder | PTDSS1 | 9791 | phosphatidylserine synthase 1 | P48651 |
| C0004245 | Atrioventricular Block | GLA | 2717 | galactosidase alpha | P06280 |
| C0004245 | Atrioventricular Block | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C0004245 | Atrioventricular Block | APRT | 353 | adenine phosphoribosyltransferase | P07741 |
| C0004245 | Atrioventricular Block | CALR | 811 | calreticulin | P27797 |
| C0004245 | Atrioventricular Block | AGXT | 189 | alanine--glyoxylate and serine--pyruvate aminotransferase | P21549 |
| C0004245 | Atrioventricular Block | ACADVL | 37 | acyl-CoA dehydrogenase very long chain | P49748 |
| C0004245 | Atrioventricular Block | ARSD | 414 | arylsulfatase D | P51689 |
| C0004245 | Atrioventricular Block | MTM1 | 4534 | myotubularin 1 | Q13496 |
| C0004245 | Atrioventricular Block | PKD2 | 5311 | polycystin 2, transient receptor potential cation channel | Q13563 |
| C0004245 | Atrioventricular Block | CACNA2D1 | 781 | calcium voltage-gated channel auxiliary subunit alpha2delta 1 | P54289 |
| C0004239 | Atrial Flutter | ACADL | 33 | acyl-CoA dehydrogenase long chain | P28330 |
| C0004238 | Atrial Fibrillation | UST | 10090 | uronyl 2-sulfotransferase | Q9Y2C2 |
| C0004238 | Atrial Fibrillation | XXYLT1 | 152002 | xyloside xylosyltransferase 1 | Q8NBI6 |
| C0004238 | Atrial Fibrillation | ABO | 28 | ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase | P16442 |
| C0004238 | Atrial Fibrillation | COG5 | 10466 | component of oligomeric golgi complex 5 | Q9UP83 |
| C0004238 | Atrial Fibrillation | GLA | 2717 | galactosidase alpha | P06280 |
| C0004238 | Atrial Fibrillation | ASAH1 | 427 | N-acylsphingosine amidohydrolase 1 | Q13510 |
| C0004238 | Atrial Fibrillation | SMPD1 | 6609 | sphingomyelin phosphodiesterase 1 | P17405 |
| C0004238 | Atrial Fibrillation | ATP6AP2 | 10159 | ATPase H+ transporting accessory protein 2 | O75787 |
| C0004238 | Atrial Fibrillation | AKR1A1 | 10327 | aldo-keto reductase family 1 member A1 | P14550 |
| C0004238 | Atrial Fibrillation | CHI3L1 | 1116 | chitinase 3 like 1 | P36222 |
| C0004238 | Atrial Fibrillation | PARP1 | 142 | poly(ADP-ribose) polymerase 1 | P09874 |
