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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 |
|---|---|---|---|---|---|
| C0026847 | Spinal Muscular Atrophy | CALR | 811 | calreticulin | P27797 |
| C0026847 | Spinal Muscular Atrophy | CANX | 821 | calnexin | P27824 |
| C0026847 | Spinal Muscular Atrophy | CHODL | 140578 | chondrolectin | Q9H9P2 |
| C0026847 | Spinal Muscular Atrophy | ALPI | 248 | alkaline phosphatase, intestinal | P09923 |
| C0026847 | Spinal Muscular Atrophy | ALPP | 250 | alkaline phosphatase, placental | P05187 |
| C0026847 | Spinal Muscular Atrophy | LGALS3 | 3958 | galectin 3 | P17931 |
| C0026847 | Spinal Muscular Atrophy | ACHE | 43 | acetylcholinesterase (Cartwright blood group) | P22303 |
| C0026847 | Spinal Muscular Atrophy | CAT | 847 | catalase | P04040 |
| C0026847 | Spinal Muscular Atrophy | HSPG2 | 3339 | heparan sulfate proteoglycan 2 | P98160 |
| C0026847 | Spinal Muscular Atrophy | CNTN1 | 1272 | contactin 1 | Q12860 |
| C0026847 | Spinal Muscular Atrophy | FCN2 | 2220 | ficolin 2 | Q15485 |
| C0026847 | Spinal Muscular Atrophy | KDSR | 2531 | 3-ketodihydrosphingosine reductase | Q06136 |
| C0026847 | Spinal Muscular Atrophy | ARSF | 416 | arylsulfatase F | P54793 |
| C0026847 | Spinal Muscular Atrophy | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0026847 | Spinal Muscular Atrophy | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C1845359 | Spinal Muscular Atrophy, Distal, X-Linked 3 | PGK1 | 5230 | phosphoglycerate kinase 1 | P00558 |
| C0037939 | Spinal Neoplasms | ARSA | 410 | arylsulfatase A | P15289 |
| C0037939 | Spinal Neoplasms | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C0037939 | Spinal Neoplasms | PLA2G15 | 23659 | phospholipase A2 group XV | Q8NCC3 |
| C0037939 | Spinal Neoplasms | ACSS2 | 55902 | acyl-CoA synthetase short chain family member 2 | Q9NR19 |
| C0158288 | Spinal stenosis of lumbar region | CAT | 847 | catalase | P04040 |
| C0158288 | Spinal stenosis of lumbar region | COL9A2 | 1298 | collagen type IX alpha 2 chain | Q14055 |
| C0158288 | Spinal stenosis of lumbar region | LSS | 4047 | lanosterol synthase | P48449 |
| C0158288 | Spinal stenosis of lumbar region | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C0158288 | Spinal stenosis of lumbar region | GOLPH3 | 64083 | golgi phosphoprotein 3 | Q9H4A6 |
