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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 |
|---|---|---|---|---|---|
| C1837461 | SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 | LARGE1 | 9215 | LARGE xylosyl- and glucuronyltransferase 1 | O95461 |
| C1837461 | SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 | CYB5R3 | 1727 | cytochrome b5 reductase 3 | P00387 |
| C1837461 | SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C1837461 | SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 | GBE1 | 2632 | 1,4-alpha-glucan branching enzyme 1 | Q04446 |
| C1837461 | SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 | TMTC4 | 84899 | transmembrane O-mannosyltransferase targeting cadherins 4 | Q5T4D3 |
| C1837461 | SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 | CHODL | 140578 | chondrolectin | Q9H9P2 |
| C1837461 | SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 | CNTFR | 1271 | ciliary neurotrophic factor receptor | P26992 |
| C1837461 | SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 | CERS6 | 253782 | ceramide synthase 6 | Q6ZMG9 |
| C1837461 | SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 | IPMK | 253430 | inositol polyphosphate multikinase | Q8NFU5 |
| C1837461 | SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 | LIPC | 3990 | lipase C, hepatic type | P11150 |
| C1837461 | SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 | ENPP3 | 5169 | ectonucleotide pyrophosphatase/phosphodiesterase 3 | O14638 |
| C1837461 | SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 | ACSM3 | 6296 | acyl-CoA synthetase medium chain family member 3 | Q53FZ2 |
| C1837461 | SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 | AACS | 65985 | acetoacetyl-CoA synthetase | Q86V21 |
| C1837461 | SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 | CDH13 | 1012 | cadherin 13 | P55290 |
| C1837461 | SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 | ME3 | 10873 | malic enzyme 3 | Q16798 |
| C1837461 | SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 | ACSM1 | 116285 | acyl-CoA synthetase medium chain family member 1 | Q08AH1 |
| C1837461 | SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 | DGKB | 1607 | diacylglycerol kinase beta | Q9Y6T7 |
| C1837461 | SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 | PLCH1 | 23007 | phospholipase C eta 1 | Q4KWH8 |
| C1837461 | SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 | GFRA1 | 2674 | GDNF family receptor alpha 1 | P56159 |
| C1837461 | SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 | ITPK1 | 3705 | inositol-tetrakisphosphate 1-kinase | Q13572 |
| C1837461 | SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 | KLRD1 | 3824 | killer cell lectin like receptor D1 | Q13241 |
| C1837461 | SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 | OPCML | 4978 | opioid binding protein/cell adhesion molecule like | Q14982 |
| C1837461 | SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 | HSD17B12 | 51144 | hydroxysteroid 17-beta dehydrogenase 12 | Q53GQ0 |
| C1837461 | SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 | MSMO1 | 6307 | methylsterol monooxygenase 1 | Q15800 |
| C1837461 | SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 | CACNA2D1 | 781 | calcium voltage-gated channel auxiliary subunit alpha2delta 1 | P54289 |
