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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 |
|---|---|---|---|---|---|
| C1854465 | TUBEROUS SCLEROSIS 1 (disorder) | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C1854465 | TUBEROUS SCLEROSIS 1 (disorder) | PRKAA2 | 5563 | protein kinase AMP-activated catalytic subunit alpha 2 | P54646 |
| C1854465 | TUBEROUS SCLEROSIS 1 (disorder) | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C1854465 | TUBEROUS SCLEROSIS 1 (disorder) | TKT | 7086 | transketolase | P29401 |
| C1860707 | TUBEROUS SCLEROSIS 2 (disorder) | NTHL1 | 4913 | nth like DNA glycosylase 1 | P78549 |
| C1860707 | TUBEROUS SCLEROSIS 2 (disorder) | PKD1 | 5310 | polycystin 1, transient receptor potential channel interacting | P98161 |
| C1860707 | TUBEROUS SCLEROSIS 2 (disorder) | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C1876187 | TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL | GALNT3 | 2591 | polypeptide N-acetylgalactosaminyltransferase 3 | Q14435 |
| C1876187 | TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL | KL | 9365 | klotho | Q9UEF7 |
| C4692564 | TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 1 | GALNT3 | 2591 | polypeptide N-acetylgalactosaminyltransferase 3 | Q14435 |
| C4692564 | TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 1 | KL | 9365 | klotho | Q9UEF7 |
| C0041471 | TYPHUS | CS | 1431 | citrate synthase | O75390 |
| C0042514 | Tachycardia, Ventricular | FUT1 | 2523 | fucosyltransferase 1 (H blood group) | P19526 |
| C0042514 | Tachycardia, Ventricular | FKRP | 79147 | fukutin related protein | Q9H9S5 |
| C0042514 | Tachycardia, Ventricular | GYG1 | 2992 | glycogenin 1 | P46976 |
| C0042514 | Tachycardia, Ventricular | CALR | 811 | calreticulin | P27797 |
| C0042514 | Tachycardia, Ventricular | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C0042514 | Tachycardia, Ventricular | CHPT1 | 56994 | choline phosphotransferase 1 | Q8WUD6 |
| C0042514 | Tachycardia, Ventricular | SCD | 6319 | stearoyl-CoA desaturase | O00767 |
| C0042514 | Tachycardia, Ventricular | ACADVL | 37 | acyl-CoA dehydrogenase very long chain | P49748 |
| C0042514 | Tachycardia, Ventricular | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C0042514 | Tachycardia, Ventricular | GOLPH3 | 64083 | golgi phosphoprotein 3 | Q9H4A6 |
| C0039263 | Takayasu Arteritis | CHI3L1 | 1116 | chitinase 3 like 1 | P36222 |
| C0039263 | Takayasu Arteritis | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C0039263 | Takayasu Arteritis | SELP | 6403 | selectin P | P16109 |
