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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 |
|---|---|---|---|---|---|
| C0158761 | Radioulnar Synostosis | MASP1 | 5648 | mannan binding lectin serine peptidase 1 | P48740 |
| C0158761 | Radioulnar Synostosis | COLEC11 | 78989 | collectin subfamily member 11 | Q9BWP8 |
| C2930865 | Ramer Ladda syndrome | PTDSS1 | 9791 | phosphatidylserine synthase 1 | P48651 |
| C2242813 | Ranula (disorder) | NT5E | 4907 | 5'-nucleotidase ecto | P21589 |
| C0221239 | Rapidly progressive glomerulonephritis | ABO | 28 | ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase | P16442 |
| C0221239 | Rapidly progressive glomerulonephritis | ICAM1 | 3383 | intercellular adhesion molecule 1 | P05362 |
| C0221239 | Rapidly progressive glomerulonephritis | VCAM1 | 7412 | vascular cell adhesion molecule 1 | P19320 |
| C0393484 | Rasmussen Syndrome | FCER2 | 2208 | Fc fragment of IgE receptor II | P06734 |
| C0034735 | Raynaud Phenomenon | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C0034735 | Raynaud Phenomenon | GAD1 | 2571 | glutamate decarboxylase 1 | Q99259 |
| C0034735 | Raynaud Phenomenon | ANXA5 | 308 | annexin A5 | P08758 |
| C0034735 | Raynaud Phenomenon | SDHC | 6391 | succinate dehydrogenase complex subunit C | Q99643 |
| C0034735 | Raynaud Phenomenon | AGXT | 189 | alanine--glyoxylate and serine--pyruvate aminotransferase | P21549 |
| C0271710 | Reactive hypoglycemia | ALDOB | 229 | aldolase, fructose-bisphosphate B | P05062 |
| C0007113 | Rectal Carcinoma | EXT1 | 2131 | exostosin glycosyltransferase 1 | Q16394 |
| C0007113 | Rectal Carcinoma | ABO | 28 | ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase | P16442 |
| C0007113 | Rectal Carcinoma | ASAH1 | 427 | N-acylsphingosine amidohydrolase 1 | Q13510 |
| C0007113 | Rectal Carcinoma | ARSA | 410 | arylsulfatase A | P15289 |
| C0007113 | Rectal Carcinoma | CHI3L1 | 1116 | chitinase 3 like 1 | P36222 |
| C0007113 | Rectal Carcinoma | COMT | 1312 | catechol-O-methyltransferase | P21964 |
| C0007113 | Rectal Carcinoma | PARP1 | 142 | poly(ADP-ribose) polymerase 1 | P09874 |
| C0007113 | Rectal Carcinoma | TYMP | 1890 | thymidine phosphorylase | P19971 |
| C0007113 | Rectal Carcinoma | ALDOB | 229 | aldolase, fructose-bisphosphate B | P05062 |
| C0007113 | Rectal Carcinoma | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C0007113 | Rectal Carcinoma | OGG1 | 4968 | 8-oxoguanine DNA glycosylase | O15527 |
