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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 |
|---|---|---|---|---|---|
| C2720163 | Placental Steroid Sulfatase Deficiency | SUMF1 | 285362 | sulfatase modifying factor 1 | Q8NBK3 |
| C2720163 | Placental Steroid Sulfatase Deficiency | DHCR7 | 1717 | 7-dehydrocholesterol reductase | Q9UBM7 |
| C2720163 | Placental Steroid Sulfatase Deficiency | STS | 412 | steroid sulfatase | P08842 |
| C2718092 | Acrospiroma | CEACAM5 | 1048 | CEA cell adhesion molecule 5 | P06731 |
| C2718068 | beta-Galactosidase Deficiency | GALNS | 2588 | galactosamine (N-acetyl)-6-sulfatase | P34059 |
| C2718068 | beta-Galactosidase Deficiency | GLB1 | 2720 | galactosidase beta 1 | P16278 |
| C2718068 | beta-Galactosidase Deficiency | NEU1 | 4758 | neuraminidase 1 | Q99519 |
| C2718068 | beta-Galactosidase Deficiency | CTSA | 5476 | cathepsin A | P10619 |
| C2718068 | beta-Galactosidase Deficiency | OGA | 10724 | O-GlcNAcase | O60502 |
| C2718067 | Alcoholic Steatohepatitis | PARP1 | 142 | poly(ADP-ribose) polymerase 1 | P09874 |
| C2718067 | Alcoholic Steatohepatitis | CYP2E1 | 1571 | cytochrome P450 family 2 subfamily E member 1 | P05181 |
| C2717961 | Thrombotic Microangiopathies | PIGA | 5277 | phosphatidylinositol glycan anchor biosynthesis class A | P37287 |
| C2717961 | Thrombotic Microangiopathies | GPI | 2821 | glucose-6-phosphate isomerase | P06744 |
| C2717961 | Thrombotic Microangiopathies | CD55 | 1604 | CD55 molecule (Cromer blood group) | P08174 |
| C2717961 | Thrombotic Microangiopathies | CLEC1B | 51266 | C-type lectin domain family 1 member B | Q9P126 |
| C2717961 | Thrombotic Microangiopathies | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| C2717961 | Thrombotic Microangiopathies | DGKE | 8526 | diacylglycerol kinase epsilon | P52429 |
| C2717876 | Propionicaciduria | PCCB | 5096 | propionyl-CoA carboxylase subunit beta | P05166 |
| C2717876 | Propionicaciduria | PCCA | 5095 | propionyl-CoA carboxylase subunit alpha | P05165 |
| C2717836 | Steroid Sulfatase Deficiency Disease | HPSE | 10855 | heparanase | Q9Y251 |
| C2717836 | Steroid Sulfatase Deficiency Disease | PARP1 | 142 | poly(ADP-ribose) polymerase 1 | P09874 |
| C2717836 | Steroid Sulfatase Deficiency Disease | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C2717836 | Steroid Sulfatase Deficiency Disease | FBP2 | 8789 | fructose-bisphosphatase 2 | O00757 |
| C2717836 | Steroid Sulfatase Deficiency Disease | CSPG4 | 1464 | chondroitin sulfate proteoglycan 4 | Q6UVK1 |
| C2717836 | Steroid Sulfatase Deficiency Disease | DHCR7 | 1717 | 7-dehydrocholesterol reductase | Q9UBM7 |
