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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 |
|---|---|---|---|---|---|
| C0575158 | Kyphoscoliosis deformity of spine | ATP6V0A2 | 23545 | ATPase H+ transporting V0 subunit a2 | Q9Y487 |
| C0575158 | Kyphoscoliosis deformity of spine | SLC26A2 | 1836 | solute carrier family 26 member 2 | P50443 |
| C0575158 | Kyphoscoliosis deformity of spine | GUSB | 2990 | glucuronidase beta | P08236 |
| C0575158 | Kyphoscoliosis deformity of spine | TMEM165 | 55858 | transmembrane protein 165 | Q9HC07 |
| C0575158 | Kyphoscoliosis deformity of spine | PMM2 | 5373 | phosphomannomutase 2 | O15305 |
| C0575158 | Kyphoscoliosis deformity of spine | COG1 | 9382 | component of oligomeric golgi complex 1 | Q8WTW3 |
| C0575158 | Kyphoscoliosis deformity of spine | PAPSS2 | 9060 | 3'-phosphoadenosine 5'-phosphosulfate synthase 2 | O95340 |
| C0575158 | Kyphoscoliosis deformity of spine | CHAT | 1103 | choline O-acetyltransferase | P28329 |
| C0575158 | Kyphoscoliosis deformity of spine | AGRN | 375790 | agrin | O00468 |
| C0575158 | Kyphoscoliosis deformity of spine | HACD1 | 9200 | 3-hydroxyacyl-CoA dehydratase 1 | B0YJ81 |
| C0575158 | Kyphoscoliosis deformity of spine | GPC5 | 2262 | glypican 5 | P78333 |
| C0575158 | Kyphoscoliosis deformity of spine | HSPG2 | 3339 | heparan sulfate proteoglycan 2 | P98160 |
| C0575158 | Kyphoscoliosis deformity of spine | NSDHL | 50814 | NAD(P) dependent steroid dehydrogenase-like | Q15738 |
| C0575158 | Kyphoscoliosis deformity of spine | CRPPA | 729920 | CDP-L-ribitol pyrophosphorylase A | A4D126 |
| C0577631 | Carotid Atherosclerosis | ARSA | 410 | arylsulfatase A | P15289 |
| C0577631 | Carotid Atherosclerosis | ARSB | 411 | arylsulfatase B | P15848 |
| C0577631 | Carotid Atherosclerosis | HPSE | 10855 | heparanase | Q9Y251 |
| C0577631 | Carotid Atherosclerosis | CHI3L1 | 1116 | chitinase 3 like 1 | P36222 |
| C0577631 | Carotid Atherosclerosis | AKR1B1 | 231 | aldo-keto reductase family 1 member B | P15121 |
| C0577631 | Carotid Atherosclerosis | PNP | 4860 | purine nucleoside phosphorylase | P00491 |
| C0577631 | Carotid Atherosclerosis | ENPP1 | 5167 | ectonucleotide pyrophosphatase/phosphodiesterase 1 | P22413 |
| C0577631 | Carotid Atherosclerosis | KL | 9365 | klotho | Q9UEF7 |
| C0577631 | Carotid Atherosclerosis | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C0577631 | Carotid Atherosclerosis | ALDH2 | 217 | aldehyde dehydrogenase 2 family member | P05091 |
| C0577631 | Carotid Atherosclerosis | HPGDS | 27306 | hematopoietic prostaglandin D synthase | O60760 |
