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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 |
|---|---|---|---|---|---|
| C0037772 | Spastic Paraplegia | CYP7B1 | 9420 | cytochrome P450 family 7 subfamily B member 1 | O75881 |
| C0037772 | Spastic Paraplegia | CPT1C | 126129 | carnitine palmitoyltransferase 1C | Q8TCG5 |
| C0037772 | Spastic Paraplegia | ALDH3A2 | 224 | aldehyde dehydrogenase 3 family member A2 | P51648 |
| C0037772 | Spastic Paraplegia | L1CAM | 3897 | L1 cell adhesion molecule | P32004 |
| C0175695 | Sotos' syndrome | CSPG5 | 10675 | chondroitin sulfate proteoglycan 5 | O95196 |
| C0175695 | Sotos' syndrome | GPC3 | 2719 | glypican 3 | P51654 |
| C0175695 | Sotos' syndrome | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C0175695 | Sotos' syndrome | ARSD | 414 | arylsulfatase D | P51689 |
| C0242429 | Sore Throat | GALNS | 2588 | galactosamine (N-acetyl)-6-sulfatase | P34059 |
| C0242429 | Sore Throat | CYP2C19 | 1557 | cytochrome P450 family 2 subfamily C member 19 | P33261 |
| C0271561 | Somatotropin deficiency | XYLT1 | 64131 | xylosyltransferase 1 | Q86Y38 |
| C0271561 | Somatotropin deficiency | SRD5A3 | 79644 | steroid 5 alpha-reductase 3 | Q9H8P0 |
| C0271561 | Somatotropin deficiency | INPPL1 | 3636 | inositol polyphosphate phosphatase like 1 | O15357 |
| C0271561 | Somatotropin deficiency | AGPAT2 | 10555 | 1-acylglycerol-3-phosphate O-acyltransferase 2 | O15120 |
| C0271561 | Somatotropin deficiency | PNPLA6 | 10908 | patatin like phospholipase domain containing 6 | Q8IY17 |
| C0271561 | Somatotropin deficiency | LPL | 4023 | lipoprotein lipase | P06858 |
| C0271561 | Somatotropin deficiency | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C0271561 | Somatotropin deficiency | CYP3A4 | 1576 | cytochrome P450 family 3 subfamily A member 4 | P08684 |
| C0271561 | Somatotropin deficiency | CYP19A1 | 1588 | cytochrome P450 family 19 subfamily A member 1 | P11511 |
| C3806688 | Solute carrier family 35 member A2 congenital disorder of glycosylation | SLC35A2 | 7355 | solute carrier family 35 member A2 | P78381 |
| 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 |
