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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 |
|---|---|---|---|---|---|
| C0025958 | Microcephaly | ACADSB | 36 | acyl-CoA dehydrogenase short/branched chain | P45954 |
| C0025958 | Microcephaly | L1CAM | 3897 | L1 cell adhesion molecule | P32004 |
| C0025958 | Microcephaly | LSS | 4047 | lanosterol synthase | P48449 |
| C0025958 | Microcephaly | LTC4S | 4056 | leukotriene C4 synthase | Q16873 |
| C0025958 | Microcephaly | ALDH6A1 | 4329 | aldehyde dehydrogenase 6 family member A1 | Q02252 |
| C0025958 | Microcephaly | PAFAH1B1 | 5048 | platelet activating factor acetylhydrolase 1b regulatory subunit 1 | P43034 |
| C0025958 | Microcephaly | NSDHL | 50814 | NAD(P) dependent steroid dehydrogenase-like | Q15738 |
| C0025958 | Microcephaly | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| C0025958 | Microcephaly | MASP1 | 5648 | mannan binding lectin serine peptidase 1 | P48740 |
| C0025958 | Microcephaly | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0025958 | Microcephaly | MSMO1 | 6307 | methylsterol monooxygenase 1 | Q15800 |
| C0025958 | Microcephaly | CNTN2 | 6900 | contactin 2 | Q02246 |
| C0025958 | Microcephaly | CRPPA | 729920 | CDP-L-ribitol pyrophosphorylase A | A4D126 |
| C0025958 | Microcephaly | DGCR2 | 9993 | DiGeorge syndrome critical region gene 2 | P98153 |
| C0266200 | Microcolon | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C0266544 | Microcornea | CHST14 | 113189 | carbohydrate sulfotransferase 14 | Q8NCH0 |
| C0266544 | Microcornea | POMT1 | 10585 | protein O-mannosyltransferase 1 | Q9Y6A1 |
| C0266544 | Microcornea | B3GALNT2 | 148789 | beta-1,3-N-acetylgalactosaminyltransferase 2 | Q8NCR0 |
| C0266544 | Microcornea | B4GAT1 | 11041 | beta-1,4-glucuronyltransferase 1 | O43505 |
| C0266544 | Microcornea | B3GLCT | 145173 | beta 3-glucosyltransferase | Q6Y288 |
| C0266544 | Microcornea | FKTN | 2218 | fukutin | O75072 |
| C0266544 | Microcornea | POMT2 | 29954 | protein O-mannosyltransferase 2 | Q9UKY4 |
| C0266544 | Microcornea | POMGNT1 | 55624 | protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Q8WZA1 |
| C0266544 | Microcornea | LARGE1 | 9215 | LARGE xylosyl- and glucuronyltransferase 1 | O95461 |
| C0266544 | Microcornea | POMGNT2 | 84892 | protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) | Q8NAT1 |
