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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 |
|---|---|---|---|---|---|
| C0004238 | Atrial Fibrillation | CNTN2 | 6900 | contactin 2 | Q02246 |
| C0004238 | Atrial Fibrillation | CACNA2D1 | 781 | calcium voltage-gated channel auxiliary subunit alpha2delta 1 | P54289 |
| C0004238 | Atrial Fibrillation | PLA2G7 | 7941 | phospholipase A2 group VII | Q13093 |
| C0004238 | Atrial Fibrillation | CYP4F2 | 8529 | cytochrome P450 family 4 subfamily F member 2 | P78329 |
| C0004239 | Atrial Flutter | ACADL | 33 | acyl-CoA dehydrogenase long chain | P28330 |
| 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 |
| C0004352 | Autistic Disorder | EXT1 | 2131 | exostosin glycosyltransferase 1 | Q16394 |
| C0004352 | Autistic Disorder | SLC35A3 | 23443 | solute carrier family 35 member A3 | Q9Y2D2 |
| C0004352 | Autistic Disorder | ABO | 28 | ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase | P16442 |
| C0004352 | Autistic Disorder | ST8SIA2 | 8128 | ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2 | Q92186 |
| C0004352 | Autistic Disorder | GALNT14 | 79623 | polypeptide N-acetylgalactosaminyltransferase 14 | Q96FL9 |
| C0004352 | Autistic Disorder | ALG13 | 79868 | ALG13 UDP-N-acetylglucosaminyltransferase subunit | Q9NP73 |
| C0004352 | Autistic Disorder | MAN1B1 | 11253 | mannosidase alpha class 1B member 1 | Q9UKM7 |
| C0004352 | Autistic Disorder | NAGLU | 4669 | N-acetyl-alpha-glucosaminidase | P54802 |
| C0004352 | Autistic Disorder | NAGA | 4668 | alpha-N-acetylgalactosaminidase | P17050 |
| C0004352 | Autistic Disorder | GNPTAB | 79158 | N-acetylglucosamine-1-phosphate transferase subunits alpha and beta | Q3T906 |
