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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 |
|---|---|---|---|---|---|
| C0520966 | Abnormal coordination | PRNP | 5621 | prion protein | P04156 |
| C0520966 | Abnormal coordination | CACNA2D2 | 9254 | calcium voltage-gated channel auxiliary subunit alpha2delta 2 | Q9NY47 |
| C0520966 | Abnormal coordination | RPIA | 22934 | ribose 5-phosphate isomerase A | P49247 |
| C0520966 | Abnormal coordination | PRNP | 5621 | prion protein | F7VJQ1 |
| C0000744 | Abetalipoproteinemia | LGALS1 | 3956 | galectin 1 | P09382 |
| C0000744 | Abetalipoproteinemia | PIK3C2A | 5286 | phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha | O00443 |
| C0000744 | Abetalipoproteinemia | IL18R1 | 8809 | interleukin 18 receptor 1 | Q13478 |
| C0000744 | Abetalipoproteinemia | HADHA | 3030 | hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha | P40939 |
| C0000744 | Abetalipoproteinemia | HADHB | 3032 | hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta | P55084 |
| C0238577 | Abdominal wall defect | DSE | 29940 | dermatan sulfate epimerase | Q9UL01 |
| C0238577 | Abdominal wall defect | STS | 412 | steroid sulfatase | P08842 |
| C2930930 | Abdominal obesity metabolic syndrome | NEIL1 | 79661 | nei like DNA glycosylase 1 | Q96FI4 |
| C0175701 | Aarskog syndrome | SGPL1 | 8879 | sphingosine-1-phosphate lyase 1 | O95470 |
| C0175701 | Aarskog syndrome | PGAM2 | 5224 | phosphoglycerate mutase 2 | P15259 |
| C0175701 | Aarskog syndrome | CYP11A1 | 1583 | cytochrome P450 family 11 subfamily A member 1 | P05108 |
| C1389016 | ATRIOVENTRICULAR CANAL DEFECT | DHCR7 | 1717 | 7-dehydrocholesterol reductase | Q9UBM7 |
| C1389016 | ATRIOVENTRICULAR CANAL DEFECT | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C1389016 | ATRIOVENTRICULAR CANAL DEFECT | CFC1 | 55997 | cripto, FRL-1, cryptic family 1 | P0CG37 |
| C1859592 | ATRICHIA WITH PAPULAR LESIONS | AGL | 178 | amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase | P35573 |
| C1859592 | ATRICHIA WITH PAPULAR LESIONS | APRT | 353 | adenine phosphoribosyltransferase | P07741 |
| C1859592 | ATRICHIA WITH PAPULAR LESIONS | AGPAT2 | 10555 | 1-acylglycerol-3-phosphate O-acyltransferase 2 | O15120 |
| C1859592 | ATRICHIA WITH PAPULAR LESIONS | ANXA5 | 308 | annexin A5 | P08758 |
| C1862389 | ATRIAL SEPTAL DEFECT 1 | B3GLCT | 145173 | beta 3-glucosyltransferase | Q6Y288 |
| C1862389 | ATRIAL SEPTAL DEFECT 1 | COMT | 1312 | catechol-O-methyltransferase | P21964 |
| C1862389 | ATRIAL SEPTAL DEFECT 1 | CAT | 847 | catalase | P04040 |
