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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 |
|---|---|---|---|---|---|
| C0037369 | Smoking | PLA2G4E | 123745 | phospholipase A2 group IVE | Q3MJ16 |
| C0037369 | Smoking | CYP21A2 | 1589 | cytochrome P450 family 21 subfamily A member 2 | P08686 |
| C0037369 | Smoking | DGKG | 1608 | diacylglycerol kinase gamma | P49619 |
| C0037369 | Smoking | EFNA5 | 1946 | ephrin A5 | P52803 |
| C0037369 | Smoking | HSD17B3 | 3293 | hydroxysteroid 17-beta dehydrogenase 3 | P37058 |
| C0037369 | Smoking | OPCML | 4978 | opioid binding protein/cell adhesion molecule like | Q14982 |
| C0037369 | Smoking | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| C0037369 | Smoking | BDH1 | 622 | 3-hydroxybutyrate dehydrogenase 1 | Q02338 |
| C0206658 | Smooth Muscle Tumor | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C0206658 | Smooth Muscle Tumor | FH | 2271 | fumarate hydratase | P07954 |
| C0206658 | Smooth Muscle Tumor | LGALS3 | 3958 | galectin 3 | P17931 |
| C0206658 | Smooth Muscle Tumor | CD44 | 960 | CD44 molecule (Indian blood group) | P16070 |
| C0282492 | Sneddon Syndrome | ARSA | 410 | arylsulfatase A | P15289 |
| C0037579 | Soft Tissue Neoplasms | OGA | 10724 | O-GlcNAcase | O60502 |
| C0037579 | Soft Tissue Neoplasms | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C0037579 | Soft Tissue Neoplasms | IDH1 | 3417 | isocitrate dehydrogenase (NADP(+)) 1 | O75874 |
| C0037579 | Soft Tissue Neoplasms | IL1R1 | 3554 | interleukin 1 receptor type 1 | P14778 |
| C0037579 | Soft Tissue Neoplasms | NANS | 54187 | N-acetylneuraminate synthase | Q9NR45 |
| C2350019 | Solitary Pulmonary Nodule | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C2350019 | Solitary Pulmonary Nodule | CEACAM5 | 1048 | CEA cell adhesion molecule 5 | P06731 |
| C2350019 | Solitary Pulmonary Nodule | PLB1 | 151056 | phospholipase B1 | Q6P1J6 |
| C2350019 | Solitary Pulmonary Nodule | PLA2G2A | 5320 | phospholipase A2 group IIA | P14555 |
| C2350019 | Solitary Pulmonary Nodule | PLA2G10 | 8399 | phospholipase A2 group X | O15496 |
| C3806688 | Solute carrier family 35 member A2 congenital disorder of glycosylation | SLC35A2 | 7355 | solute carrier family 35 member A2 | P78381 |
| C0271561 | Somatotropin deficiency | XYLT1 | 64131 | xylosyltransferase 1 | Q86Y38 |
