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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 |
|---|---|---|---|---|---|
| C0020758 | Congenital ichthyosis | SGPL1 | 8879 | sphingosine-1-phosphate lyase 1 | O95470 |
| C0020758 | Congenital ichthyosis | LPIN2 | 9663 | lipin 2 | Q92539 |
| C0020758 | Congenital ichthyosis | EBP | 10682 | EBP cholestenol delta-isomerase | Q15125 |
| C0020758 | Congenital ichthyosis | ALDH3A2 | 224 | aldehyde dehydrogenase 3 family member A2 | P51648 |
| C0275544 | Congenital infectious disease | ENPP1 | 5167 | ectonucleotide pyrophosphatase/phosphodiesterase 1 | P22413 |
| 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 |
| C0265673 | Congenital kyphosis | IDUA | 3425 | alpha-L-iduronidase | P35475 |
| C0265673 | Congenital kyphosis | PARP1 | 142 | poly(ADP-ribose) polymerase 1 | P09874 |
| C0265673 | Congenital kyphosis | CALR | 811 | calreticulin | P27797 |
| C0265673 | Congenital kyphosis | CD38 | 952 | CD38 molecule | P28907 |
| C0265673 | Congenital kyphosis | CD55 | 1604 | CD55 molecule (Cromer blood group) | P08174 |
| C0265673 | Congenital kyphosis | ALDH2 | 217 | aldehyde dehydrogenase 2 family member | P05091 |
| 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 |
| C0272187 | Congenital leukocyte adherence deficiency | DLD | 1738 | dihydrolipoamide dehydrogenase | P09622 |
