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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 |
|---|---|---|---|---|---|
| C0751606 | Adult Acute Lymphocytic Leukemia | CYP4F3 | 4051 | cytochrome P450 family 4 subfamily F member 3 | Q08477 |
| C0751606 | Adult Acute Lymphocytic Leukemia | LSS | 4047 | lanosterol synthase | P48449 |
| C0751606 | Adult Acute Lymphocytic Leukemia | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| C0751606 | Adult Acute Lymphocytic Leukemia | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C0751606 | Adult Acute Lymphocytic Leukemia | PIP4K2A | 5305 | phosphatidylinositol-5-phosphate 4-kinase type 2 alpha | P48426 |
| C0751606 | Adult Acute Lymphocytic Leukemia | PRKAA2 | 5563 | protein kinase AMP-activated catalytic subunit alpha 2 | P54646 |
| C0751606 | Adult Acute Lymphocytic Leukemia | PRPS1 | 5631 | phosphoribosyl pyrophosphate synthetase 1 | P60891 |
| C0751606 | Adult Acute Lymphocytic Leukemia | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0751606 | Adult Acute Lymphocytic Leukemia | SHMT1 | 6470 | serine hydroxymethyltransferase 1 | P34896 |
| C0751606 | Adult Acute Lymphocytic Leukemia | SOAT1 | 6646 | sterol O-acyltransferase 1 | P35610 |
| C0751602 | Hereditary Autosomal Dominant Spastic Paraplegia | PNPLA6 | 10908 | patatin like phospholipase domain containing 6 | Q8IY17 |
| C0751602 | Hereditary Autosomal Dominant Spastic Paraplegia | CYP7B1 | 9420 | cytochrome P450 family 7 subfamily B member 1 | O75881 |
| C0751597 | Ataxia with Lactic Acidosis, Type I | PDHA1 | 5160 | pyruvate dehydrogenase E1 subunit alpha 1 | P08559 |
| C0751597 | Ataxia with Lactic Acidosis, Type I | PDHB | 5162 | pyruvate dehydrogenase E1 subunit beta | P11177 |
| C0751587 | CADASIL Syndrome | CTSA | 5476 | cathepsin A | P10619 |
| C0751587 | CADASIL Syndrome | DCN | 1634 | decorin | P07585 |
| C0751571 | Cancer of Urinary Tract | COMT | 1312 | catechol-O-methyltransferase | P21964 |
| C0751571 | Cancer of Urinary Tract | OGG1 | 4968 | 8-oxoguanine DNA glycosylase | O15527 |
| C0751571 | Cancer of Urinary Tract | CEACAM5 | 1048 | CEA cell adhesion molecule 5 | P06731 |
| C0751571 | Cancer of Urinary Tract | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C0751571 | Cancer of Urinary Tract | PLA2G15 | 23659 | phospholipase A2 group XV | Q8NCC3 |
| C0751571 | Cancer of Urinary Tract | ACSS2 | 55902 | acyl-CoA synthetase short chain family member 2 | Q9NR19 |
| C0751571 | Cancer of Urinary Tract | CEACAM7 | 1087 | CEA cell adhesion molecule 7 | Q14002 |
| C0751560 | Malignant neoplasm tonsil | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C0751560 | Malignant neoplasm tonsil | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
