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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 |
|---|---|---|---|---|---|
| C0265673 | Congenital kyphosis | LGALS1 | 3956 | galectin 1 | P09382 |
| C0265673 | Congenital kyphosis | CHPT1 | 56994 | choline phosphotransferase 1 | Q8WUD6 |
| C0265673 | Congenital kyphosis | DHDDS | 79947 | dehydrodolichyl diphosphate synthase subunit | Q86SQ9 |
| C0344530 | Congenital keratoglobus | POMT1 | 10585 | protein O-mannosyltransferase 1 | Q9Y6A1 |
| C0344530 | Congenital keratoglobus | FKTN | 2218 | fukutin | O75072 |
| C0344530 | Congenital keratoglobus | POMT2 | 29954 | protein O-mannosyltransferase 2 | Q9UKY4 |
| C0344530 | Congenital keratoglobus | POMGNT1 | 55624 | protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Q8WZA1 |
| C0344530 | Congenital keratoglobus | FKRP | 79147 | fukutin related protein | Q9H9S5 |
| C0344530 | Congenital keratoglobus | POMK | 84197 | protein O-mannose kinase | Q9H5K3 |
| C0344530 | Congenital keratoglobus | LARGE1 | 9215 | LARGE xylosyl- and glucuronyltransferase 1 | O95461 |
| C0344530 | Congenital keratoglobus | GNPTAB | 79158 | N-acetylglucosamine-1-phosphate transferase subunits alpha and beta | Q3T906 |
| C0344530 | Congenital keratoglobus | GMPPB | 29925 | GDP-mannose pyrophosphorylase B | Q9Y5P6 |
| C0344530 | Congenital keratoglobus | SLC2A10 | 81031 | solute carrier family 2 member 10 | O95528 |
| C0275544 | Congenital infectious disease | ENPP1 | 5167 | ectonucleotide pyrophosphatase/phosphodiesterase 1 | P22413 |
| C0020758 | Congenital ichthyosis | GBA | 2629 | glucosylceramidase beta | P04062 |
| C0020758 | Congenital ichthyosis | MPDU1 | 9526 | mannose-P-dolichol utilization defect 1 | O75352 |
| C0020758 | Congenital ichthyosis | AMY2B | 280 | amylase alpha 2B | P19961 |
| C0020758 | Congenital ichthyosis | PNPLA6 | 10908 | patatin like phospholipase domain containing 6 | Q8IY17 |
| C0020758 | Congenital ichthyosis | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C0020758 | Congenital ichthyosis | CERS3 | 204219 | ceramide synthase 3 | Q8IU89 |
| C0020758 | Congenital ichthyosis | ALOX12B | 242 | arachidonate 12-lipoxygenase, 12R type | O75342 |
| C0020758 | Congenital ichthyosis | STS | 412 | steroid sulfatase | P08842 |
| C0020758 | Congenital ichthyosis | PNPLA2 | 57104 | patatin like phospholipase domain containing 2 | Q96AD5 |
| C0020758 | Congenital ichthyosis | ELOVL4 | 6785 | ELOVL fatty acid elongase 4 | Q9GZR5 |
| C0020758 | Congenital ichthyosis | SULT2B1 | 6820 | sulfotransferase family 2B member 1 | O00204 |
