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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 |
|---|---|---|---|---|---|
| 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 |
| 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 |
| C0848558 | Hypospadias | B3GLCT | 145173 | beta 3-glucosyltransferase | Q6Y288 |
| C0848558 | Hypospadias | PIGN | 23556 | phosphatidylinositol glycan anchor biosynthesis class N | O95427 |
| C0848558 | Hypospadias | LFNG | 3955 | LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase | Q8NES3 |
| C0848558 | Hypospadias | ALG12 | 79087 | ALG12 alpha-1,6-mannosyltransferase | Q9BV10 |
| C0848558 | Hypospadias | OGT | 8473 | O-linked N-acetylglucosamine (GlcNAc) transferase | O15294 |
| C0848558 | Hypospadias | COG1 | 9382 | component of oligomeric golgi complex 1 | Q8WTW3 |
| C0848558 | Hypospadias | COMT | 1312 | catechol-O-methyltransferase | P21964 |
| C0848558 | Hypospadias | SMC3 | 9126 | structural maintenance of chromosomes 3 | Q9UQE7 |
| C0848558 | Hypospadias | FIG4 | 9896 | FIG4 phosphoinositide 5-phosphatase | Q92562 |
| C0848558 | Hypospadias | DGKK | 139189 | diacylglycerol kinase kappa | Q5KSL6 |
| C0848558 | Hypospadias | CYP1A1 | 1543 | cytochrome P450 family 1 subfamily A member 1 | P04798 |
| C0848558 | Hypospadias | CYP17A1 | 1586 | cytochrome P450 family 17 subfamily A member 1 | P05093 |
| C0848558 | Hypospadias | CYP27B1 | 1594 | cytochrome P450 family 27 subfamily B member 1 | O15528 |
| C0848558 | Hypospadias | DHCR7 | 1717 | 7-dehydrocholesterol reductase | Q9UBM7 |
