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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 |
|---|---|---|---|---|---|
| C0004045 | Asphyxia Neonatorum | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C0032290 | Aspiration Pneumonia | PMM2 | 5373 | phosphomannomutase 2 | O15305 |
| C0032290 | Aspiration Pneumonia | CHAT | 1103 | choline O-acetyltransferase | P28329 |
| C0032290 | Aspiration Pneumonia | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C0032290 | Aspiration Pneumonia | CAT | 847 | catalase | P04040 |
| C1761609 | Aspiration pneumonitis | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C1761609 | Aspiration pneumonitis | CAT | 847 | catalase | P04040 |
| C0175707 | Asplenia Syndrome | CFC1 | 55997 | cripto, FRL-1, cryptic family 1 | P0CG37 |
| C0004096 | Asthma | FUT2 | 2524 | fucosyltransferase 2 | Q10981 |
| C0004096 | Asthma | B3GAT1 | 27087 | beta-1,3-glucuronyltransferase 1 | Q9P2W7 |
| C0004096 | Asthma | ABO | 28 | ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase | P16442 |
| C0004096 | Asthma | PIGX | 54965 | phosphatidylinositol glycan anchor biosynthesis class X | Q8TBF5 |
| C0004096 | Asthma | HAS2 | 3037 | hyaluronan synthase 2 | Q92819 |
| C0004096 | Asthma | ST6GAL1 | 6480 | ST6 beta-galactoside alpha-2,6-sialyltransferase 1 | P15907 |
| C0004096 | Asthma | GALNT17 | 64409 | polypeptide N-acetylgalactosaminyltransferase 17 | Q6IS24 |
| C0004096 | Asthma | CHST8 | 64377 | carbohydrate sulfotransferase 8 | Q9H2A9 |
| C0004096 | Asthma | GLA | 2717 | galactosidase alpha | P06280 |
| C0004096 | Asthma | GLB1 | 2720 | galactosidase beta 1 | P16278 |
| C0004096 | Asthma | HEXB | 3074 | hexosaminidase subunit beta | P07686 |
| C0004096 | Asthma | IDS | 3423 | iduronate 2-sulfatase | P22304 |
| C0004096 | Asthma | ARSA | 410 | arylsulfatase A | P15289 |
| C0004096 | Asthma | LIPA | 3988 | lipase A, lysosomal acid type | P38571 |
| C0004096 | Asthma | MANBA | 4126 | mannosidase beta | O00462 |
| C0004096 | Asthma | SMPD1 | 6609 | sphingomyelin phosphodiesterase 1 | P17405 |
| C0004096 | Asthma | CTSA | 5476 | cathepsin A | P10619 |
