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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 |
|---|---|---|---|---|---|
| C0848558 | Hypospadias | HSD17B7 | 51478 | hydroxysteroid 17-beta dehydrogenase 7 | P56937 |
| C0848558 | Hypospadias | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| C0848558 | Hypospadias | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C0848558 | Hypospadias | SRD5A2 | 6716 | steroid 5 alpha-reductase 2 | P31213 |
| C0848558 | Hypospadias | SRD5A1 | 6715 | steroid 5 alpha-reductase 1 | P18405 |
| C0848558 | Hypospadias | DHRS11 | 79154 | dehydrogenase/reductase 11 | Q6UWP2 |
| C0848558 | Hypospadias | PTDSS1 | 9791 | phosphatidylserine synthase 1 | P48651 |
| C0848548 | hypertensive nephropathy | SLC3A1 | 6519 | solute carrier family 3 member 1 | Q07837 |
| C0848548 | hypertensive nephropathy | CHGA | 1113 | chromogranin A | P10645 |
| C0848548 | hypertensive nephropathy | CYP3A5 | 1577 | cytochrome P450 family 3 subfamily A member 5 | P20815 |
| C0848548 | hypertensive nephropathy | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C0848548 | hypertensive nephropathy | UMOD | 7369 | uromodulin | P07911 |
| C0848548 | hypertensive nephropathy | CYP4A11 | 1579 | cytochrome P450 family 4 subfamily A member 11 | Q02928 |
| C0848548 | hypertensive nephropathy | CYP3A4 | 1576 | cytochrome P450 family 3 subfamily A member 4 | P08684 |
| C0836924 | Thrombocytosis | PMM2 | 5373 | phosphomannomutase 2 | O15305 |
| C0836924 | Thrombocytosis | CALR | 811 | calreticulin | P27797 |
| C0836924 | Thrombocytosis | ACAT1 | 38 | acetyl-CoA acetyltransferase 1 | P24752 |
| C0836924 | Thrombocytosis | CD177 | 57126 | CD177 molecule | Q8N6Q3 |
| C0836924 | Thrombocytosis | NAAA | 27163 | N-acylethanolamine acid amidase | Q02083 |
| C0836924 | Thrombocytosis | HMGCL | 3155 | 3-hydroxy-3-methylglutaryl-CoA lyase | P35914 |
| C0813142 | Circadian Rhythm Disorders | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C0812437 | Oculo-dento-digital syndrome | CYP1B1 | 1545 | cytochrome P450 family 1 subfamily B member 1 | Q16678 |
| C0812413 | Malignant Pleural Mesothelioma | ALG1 | 56052 | ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase | Q9BT22 |
| C0812413 | Malignant Pleural Mesothelioma | ARSA | 410 | arylsulfatase A | P15289 |
| C0812413 | Malignant Pleural Mesothelioma | NAGLU | 4669 | N-acetyl-alpha-glucosaminidase | P54802 |
