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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 |
|---|---|---|---|---|---|
| C0949690 | Spondylarthritis | KLRK1 | 22914 | killer cell lectin like receptor K1 | P26718 |
| C0949690 | Spondylarthritis | MBL2 | 4153 | mannose binding lectin 2 | P11226 |
| C0949690 | Spondylarthritis | SFTPA2 | 729238 | surfactant protein A2 | Q8IWL1 |
| C0949690 | Spondylarthritis | CD14 | 929 | CD14 molecule | P08571 |
| C0949690 | Spondylarthritis | CD74 | 972 | CD74 molecule | P04233 |
| C0949690 | Spondylarthritis | MICA | 100507436 | MHC class I polypeptide-related sequence A | Q29983 |
| C0949690 | Spondylarthritis | KLRB1 | 3820 | killer cell lectin like receptor B1 | Q12918 |
| C0949690 | Spondylarthritis | SOAT1 | 6646 | sterol O-acyltransferase 1 | P35610 |
| C2931019 | Split hand foot deformity 1 | UGT8 | 7368 | UDP glycosyltransferase 8 | Q16880 |
| C2931019 | Split hand foot deformity 1 | CLEC1B | 51266 | C-type lectin domain family 1 member B | Q9P126 |
| C2931019 | Split hand foot deformity 1 | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
| C2931019 | Split hand foot deformity 1 | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C2931019 | Split hand foot deformity 1 | PCYT1A | 5130 | phosphate cytidylyltransferase 1, choline, alpha | P49585 |
| C2931019 | Split hand foot deformity 1 | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| C2931019 | Split hand foot deformity 1 | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C1260402 | Splenic sequestration | SCD | 6319 | stearoyl-CoA desaturase | O00767 |
| C0037999 | Splenic Neoplasms | CEACAM5 | 1048 | CEA cell adhesion molecule 5 | P06731 |
| C0037997 | Splenic Diseases | CYP1A2 | 1544 | cytochrome P450 family 1 subfamily A member 2 | P05177 |
| C4518337 | Spinocerebellar ataxia type 38 | ELOVL5 | 60481 | ELOVL fatty acid elongase 5 | Q9NYP7 |
| C0752125 | Spinocerebellar Ataxia Type 7 | SPTLC3 | 55304 | serine palmitoyltransferase long chain base subunit 3 | Q9NUV7 |
| C0752125 | Spinocerebellar Ataxia Type 7 | PRNP | 5621 | prion protein | P04156 |
| C0752125 | Spinocerebellar Ataxia Type 7 | ELOVL5 | 60481 | ELOVL fatty acid elongase 5 | Q9NYP7 |
| C0752125 | Spinocerebellar Ataxia Type 7 | ENPP2 | 5168 | ectonucleotide pyrophosphatase/phosphodiesterase 2 | Q13822 |
| C0752125 | Spinocerebellar Ataxia Type 7 | PRNP | 5621 | prion protein | F7VJQ1 |
| C0752124 | Spinocerebellar Ataxia Type 6 (disorder) | MPI | 4351 | mannose phosphate isomerase | P34949 |
