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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 |
|---|---|---|---|---|---|
| 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 |
| C1389018 | Atrioventricular Septal Defect | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C0221392 | Atrophic Vaginitis | CYP19A1 | 1588 | cytochrome P450 family 19 subfamily A member 1 | P11511 |
| C0151514 | Atrophic condition of skin | GPI | 2821 | glucose-6-phosphate isomerase | P06744 |
| C0151514 | Atrophic condition of skin | DCN | 1634 | decorin | P07585 |
| C0151514 | Atrophic condition of skin | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C0151514 | Atrophic condition of skin | CAT | 847 | catalase | P04040 |
| C0151514 | Atrophic condition of skin | CD44 | 960 | CD44 molecule (Indian blood group) | P16070 |
| C0151514 | Atrophic condition of skin | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C0151514 | Atrophic condition of skin | DHCR24 | 1718 | 24-dehydrocholesterol reductase | Q15392 |
| C0151514 | Atrophic condition of skin | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| C0521694 | Atrophic retina | POMT1 | 10585 | protein O-mannosyltransferase 1 | Q9Y6A1 |
| C0521694 | Atrophic retina | FKTN | 2218 | fukutin | O75072 |
| C0521694 | Atrophic retina | POMT2 | 29954 | protein O-mannosyltransferase 2 | Q9UKY4 |
| C0521694 | Atrophic retina | POMGNT1 | 55624 | protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Q8WZA1 |
| C0521694 | Atrophic retina | LARGE1 | 9215 | LARGE xylosyl- and glucuronyltransferase 1 | O95461 |
| C0521694 | Atrophic retina | FKRP | 79147 | fukutin related protein | Q9H9S5 |
| C0521694 | Atrophic retina | HGSNAT | 138050 | heparan-alpha-glucosaminide N-acetyltransferase | Q68CP4 |
