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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 |
|---|---|---|---|---|---|
| C1855498 | Lipase deficiency combined | LPL | 4023 | lipoprotein lipase | P06858 |
| C1855472 | Acute lymphoblastic leukemia with lymphomatous features | MTAP | 4507 | methylthioadenosine phosphorylase | Q13126 |
| C1855465 | STARGARDT DISEASE 1 (disorder) | RPE | 6120 | ribulose-5-phosphate-3-epimerase | Q96AT9 |
| C1855465 | STARGARDT DISEASE 1 (disorder) | ELOVL4 | 6785 | ELOVL fatty acid elongase 4 | Q9GZR5 |
| C1855371 | MAPLE SYRUP URINE DISEASE, TYPE II | DBT | 1629 | dihydrolipoamide branched chain transacylase E2 | P11182 |
| C1855369 | Maple Syrup Urine Disease, Type IA | BCKDHA | 593 | branched chain keto acid dehydrogenase E1 subunit alpha | P12694 |
| C1855304 | MENTAL RETARDATION, AUTOSOMAL RECESSIVE 1 | NTHL1 | 4913 | nth like DNA glycosylase 1 | P78549 |
| C1855255 | Pseudoarylsulfatase A Deficiency | ARSA | 410 | arylsulfatase A | P15289 |
| C1855179 | CATARACT, ANTERIOR POLAR | SMPD1 | 6609 | sphingomyelin phosphodiesterase 1 | P17405 |
| C1855179 | CATARACT, ANTERIOR POLAR | CHI3L1 | 1116 | chitinase 3 like 1 | P36222 |
| C1855179 | CATARACT, ANTERIOR POLAR | SMC3 | 9126 | structural maintenance of chromosomes 3 | Q9UQE7 |
| C1855179 | CATARACT, ANTERIOR POLAR | CYP1A1 | 1543 | cytochrome P450 family 1 subfamily A member 1 | P04798 |
| C1855179 | CATARACT, ANTERIOR POLAR | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C1855179 | CATARACT, ANTERIOR POLAR | FCGR3B | 2215 | Fc fragment of IgG receptor IIIb | O75015 |
| C1855179 | CATARACT, ANTERIOR POLAR | SLC17A5 | 26503 | solute carrier family 17 member 5 | Q9NRA2 |
| C1855179 | CATARACT, ANTERIOR POLAR | MBL2 | 4153 | mannose binding lectin 2 | P11226 |
| C1855179 | CATARACT, ANTERIOR POLAR | SFTPD | 6441 | surfactant protein D | P35247 |
| C1855179 | CATARACT, ANTERIOR POLAR | SFTPA1 | 653509 | surfactant protein A1 | Q8IWL2 |
| C1855179 | CATARACT, ANTERIOR POLAR | SFTPA2 | 729238 | surfactant protein A2 | Q8IWL1 |
| C1855179 | CATARACT, ANTERIOR POLAR | SLC2A10 | 81031 | solute carrier family 2 member 10 | O95528 |
| C1855179 | CATARACT, ANTERIOR POLAR | SDC4 | 6385 | syndecan 4 | P31431 |
| C1855179 | CATARACT, ANTERIOR POLAR | FCN2 | 2220 | ficolin 2 | Q15485 |
| C1855126 | 3-Methylglutaconic Aciduria Type IV | SUCLA2 | 8803 | succinate-CoA ligase ADP-forming subunit beta | Q9P2R7 |
| C1855116 | Methylmalonic Aciduria, mut(-) Type | MMUT | 4594 | methylmalonyl-CoA mutase | P22033 |
| C1855115 | Methylmalonic Aciduria, mut(0) Type | MMUT | 4594 | methylmalonyl-CoA mutase | P22033 |
