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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 |
|---|---|---|---|---|---|
| C0004775 | Bartter Disease | CYP11B1 | 1584 | cytochrome P450 family 11 subfamily B member 1 | P15538 |
| C0001925 | Albuminuria | CYP11B1 | 1584 | cytochrome P450 family 11 subfamily B member 1 | P15538 |
| C0034013 | Precocious Puberty | CYP11B1 | 1584 | cytochrome P450 family 11 subfamily B member 1 | P15538 |
| C0015934 | Fetal Growth Retardation | CYP11B1 | 1584 | cytochrome P450 family 11 subfamily B member 1 | P15538 |
| C0085580 | Essential Hypertension | CYP11B1 | 1584 | cytochrome P450 family 11 subfamily B member 1 | P15538 |
| C0678222 | Breast Carcinoma | CYP11B1 | 1584 | cytochrome P450 family 11 subfamily B member 1 | P15538 |
| C0038454 | Cerebrovascular accident | CYP11B1 | 1584 | cytochrome P450 family 11 subfamily B member 1 | P15538 |
| C0029456 | Osteoporosis | CYP11B1 | 1584 | cytochrome P450 family 11 subfamily B member 1 | P15538 |
| C0018799 | Heart Diseases | CYP11B1 | 1584 | cytochrome P450 family 11 subfamily B member 1 | P15538 |
| C0020621 | Hypokalemia | CYP11B1 | 1584 | cytochrome P450 family 11 subfamily B member 1 | P15538 |
| C0032460 | Polycystic Ovary Syndrome | CYP11B1 | 1584 | cytochrome P450 family 11 subfamily B member 1 | P15538 |
| C0206667 | Adrenal Cortical Adenoma | CYP11B1 | 1584 | cytochrome P450 family 11 subfamily B member 1 | P15538 |
| C0013336 | Dwarfism | CYP11B1 | 1584 | cytochrome P450 family 11 subfamily B member 1 | P15538 |
| C0342482 | X-linked Adrenal Hypoplasia | CYP11B1 | 1584 | cytochrome P450 family 11 subfamily B member 1 | P15538 |
| C4551902 | Craniosynostosis, Type 1 | FREM1 | 158326 | FRAS1 related extracellular matrix 1 | Q5H8C1 |
| C0795830 | CHROMOSOME 9p DELETION SYNDROME | FREM1 | 158326 | FRAS1 related extracellular matrix 1 | Q5H8C1 |
| C0265425 | 9p partial monosomy syndrome | FREM1 | 158326 | FRAS1 related extracellular matrix 1 | Q5H8C1 |
| C0010278 | Craniosynostosis | FREM1 | 158326 | FRAS1 related extracellular matrix 1 | Q5H8C1 |
| C0265233 | Cryptophthalmos syndrome | FREM1 | 158326 | FRAS1 related extracellular matrix 1 | Q5H8C1 |
| C1619700 | RENAL ADYSPLASIA | FREM1 | 158326 | FRAS1 related extracellular matrix 1 | Q5H8C1 |
| C0242473 | Anus Prolapse | FREM1 | 158326 | FRAS1 related extracellular matrix 1 | Q5H8C1 |
| C0007222 | Cardiovascular Diseases | FREM1 | 158326 | FRAS1 related extracellular matrix 1 | Q5H8C1 |
| C2931150 | Synostotic Anterior Plagiocephaly | FREM1 | 158326 | FRAS1 related extracellular matrix 1 | Q5H8C1 |
| C0015393 | Eye Abnormalities | FREM1 | 158326 | FRAS1 related extracellular matrix 1 | Q5H8C1 |
| C0311249 | Cryptophthalmos | FREM1 | 158326 | FRAS1 related extracellular matrix 1 | Q5H8C1 |
