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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 |
|---|---|---|---|---|---|
| C0699743 | Congenital muscular dystrophy (disorder) | CHKB | 1120 | choline kinase beta | Q9Y259 |
| C0699743 | Congenital muscular dystrophy (disorder) | INPP5K | 51763 | inositol polyphosphate-5-phosphatase K | Q9BT40 |
| C0699743 | Congenital muscular dystrophy (disorder) | AGK | 55750 | acylglycerol kinase | Q53H12 |
| C0699743 | Congenital muscular dystrophy (disorder) | DAG1 | 1605 | dystroglycan 1 | Q14118 |
| C0699743 | Congenital muscular dystrophy (disorder) | CHKA | 1119 | choline kinase alpha | P35790 |
| C0699743 | Congenital muscular dystrophy (disorder) | CRPPA | 729920 | CDP-L-ribitol pyrophosphorylase A | A4D126 |
| C1261470 | Congenital meningocele | B3GALNT2 | 148789 | beta-1,3-N-acetylgalactosaminyltransferase 2 | Q8NCR0 |
| C1261470 | Congenital meningocele | POMT1 | 10585 | protein O-mannosyltransferase 1 | Q9Y6A1 |
| C1261470 | Congenital meningocele | FKTN | 2218 | fukutin | O75072 |
| C1261470 | Congenital meningocele | POMT2 | 29954 | protein O-mannosyltransferase 2 | Q9UKY4 |
| C1261470 | Congenital meningocele | LFNG | 3955 | LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase | Q8NES3 |
| C1261470 | Congenital meningocele | POMGNT1 | 55624 | protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Q8WZA1 |
| C1261470 | Congenital meningocele | FKRP | 79147 | fukutin related protein | Q9H9S5 |
| C1261470 | Congenital meningocele | LARGE1 | 9215 | LARGE xylosyl- and glucuronyltransferase 1 | O95461 |
| C1261470 | Congenital meningocele | GMPPB | 29925 | GDP-mannose pyrophosphorylase B | Q9Y5P6 |
| C1261470 | Congenital meningocele | SC5D | 6309 | sterol-C5-desaturase | O75845 |
| C0495640 | Congenital malformation syndromes involving early overgrowth | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C1141890 | Congenital long QT syndrome | SCD | 6319 | stearoyl-CoA desaturase | O00767 |
| C0272187 | Congenital leukocyte adherence deficiency | DLD | 1738 | dihydrolipoamide dehydrogenase | P09622 |
| 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 |
