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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 |
|---|---|---|---|---|---|
| C4225190 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIp | TMEM199 | 147007 | transmembrane protein 199 | Q8N511 |
| C4225191 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIo | CCDC115 | 84317 | coiled-coil domain containing 115 | Q96NT0 |
| C4225234 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIn | SLC39A8 | 64116 | solute carrier family 39 member 8 | Q9C0K1 |
| C4225250 | SPASTIC PARAPLEGIA 75, AUTOSOMAL RECESSIVE | MAG | 4099 | myelin associated glycoprotein | P20916 |
| C4225287 | RETINITIS PIGMENTOSA 73 | HGSNAT | 138050 | heparan-alpha-glucosaminide N-acetyltransferase | Q68CP4 |
| C4225291 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9 | DAG1 | 1605 | dystroglycan 1 | Q14118 |
| C4225300 | CATARACT 44 | LSS | 4047 | lanosterol synthase | P48449 |
| C4225306 | CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2V | NAGLU | 4669 | N-acetyl-alpha-glucosaminidase | P54802 |
| C4225384 | OPTIC ATROPHY 9 | ACO2 | 50 | aconitase 2 | Q99798 |
| C4225387 | SPASTIC PARAPLEGIA 73, AUTOSOMAL DOMINANT | CPT1C | 126129 | carnitine palmitoyltransferase 1C | Q8TCG5 |
| C4225426 | THYROID CANCER, NONMEDULLARY, 2 | MINPP1 | 9562 | multiple inositol-polyphosphate phosphatase 1 | Q9UNW1 |
| C4225426 | THYROID CANCER, NONMEDULLARY, 2 | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C4281802 | Spongiform encephalopathy | GPI | 2821 | glucose-6-phosphate isomerase | P06744 |
| C4281802 | Spongiform encephalopathy | PRNP | 5621 | prion protein | P04156 |
| C4281802 | Spongiform encephalopathy | PRNP | 5621 | prion protein | F7VJQ1 |
| C4282128 | PATENT DUCTUS ARTERIOSUS 1 | CHST15 | 51363 | carbohydrate sulfotransferase 15 | Q7LFX5 |
| C4282128 | PATENT DUCTUS ARTERIOSUS 1 | PARP1 | 142 | poly(ADP-ribose) polymerase 1 | P09874 |
| C4282128 | PATENT DUCTUS ARTERIOSUS 1 | ENO1 | 2023 | enolase 1 | P06733 |
| C4282128 | PATENT DUCTUS ARTERIOSUS 1 | IDH1 | 3417 | isocitrate dehydrogenase (NADP(+)) 1 | O75874 |
| C4282128 | PATENT DUCTUS ARTERIOSUS 1 | LGALS9 | 3965 | galectin 9 | O00182 |
| C4282128 | PATENT DUCTUS ARTERIOSUS 1 | NTNG1 | 22854 | netrin G1 | Q9Y2I2 |
| C4282128 | PATENT DUCTUS ARTERIOSUS 1 | LGALS1 | 3956 | galectin 1 | P09382 |
| C4282128 | PATENT DUCTUS ARTERIOSUS 1 | LGALS3 | 3958 | galectin 3 | P17931 |
| C4282128 | PATENT DUCTUS ARTERIOSUS 1 | MBL2 | 4153 | mannose binding lectin 2 | P11226 |
| C4282128 | PATENT DUCTUS ARTERIOSUS 1 | STS | 412 | steroid sulfatase | P08842 |
