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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 |
|---|---|---|---|---|---|
| C0030044 | Acrocephaly | FREM1 | 158326 | FRAS1 related extracellular matrix 1 | Q5H8C1 |
| C0795690 | Congenital omphalocele | FREM1 | 158326 | FRAS1 related extracellular matrix 1 | Q5H8C1 |
| C1968949 | Cakut | FREM1 | 158326 | FRAS1 related extracellular matrix 1 | Q5H8C1 |
| C3495676 | Anorectal Malformations | FREM1 | 158326 | FRAS1 related extracellular matrix 1 | Q5H8C1 |
| C0405580 | Adrenal cortical hypofunction | CYP11B1 | 1584 | cytochrome P450 family 11 subfamily B member 1 | P15538 |
| C0268292 | Congenital adrenal hyperplasia due to 11-Beta-hydroxylase deficiency | CYP11B1 | 1584 | cytochrome P450 family 11 subfamily B member 1 | P15538 |
| C0001627 | Congenital adrenal hyperplasia | CYP11B1 | 1584 | cytochrome P450 family 11 subfamily B member 1 | P15538 |
| C0206686 | Adrenocortical carcinoma | CYP11B1 | 1584 | cytochrome P450 family 11 subfamily B member 1 | P15538 |
| C0020428 | Hyperaldosteronism | CYP11B1 | 1584 | cytochrome P450 family 11 subfamily B member 1 | P15538 |
| C0001623 | Adrenal gland hypofunction | CYP11B1 | 1584 | cytochrome P450 family 11 subfamily B member 1 | P15538 |
| C0010278 | Craniosynostosis | CYP11B1 | 1584 | cytochrome P450 family 11 subfamily B member 1 | P15538 |
| C1384514 | Conn Syndrome | CYP11B1 | 1584 | cytochrome P450 family 11 subfamily B member 1 | P15538 |
| C0007222 | Cardiovascular Diseases | CYP11B1 | 1584 | cytochrome P450 family 11 subfamily B member 1 | P15538 |
| C1260386 | Glucocorticoid-remediable aldosteronism | CYP11B1 | 1584 | cytochrome P450 family 11 subfamily B member 1 | P15538 |
| C0221406 | Pituitary-dependent Cushing's disease | CYP11B1 | 1584 | cytochrome P450 family 11 subfamily B member 1 | P15538 |
| C0006142 | Malignant neoplasm of breast | CYP11B1 | 1584 | cytochrome P450 family 11 subfamily B member 1 | P15538 |
| C0018801 | Heart failure | CYP11B1 | 1584 | cytochrome P450 family 11 subfamily B member 1 | P15538 |
| C0010481 | Cushing Syndrome | CYP11B1 | 1584 | cytochrome P450 family 11 subfamily B member 1 | P15538 |
| C0020538 | Hypertensive disease | CYP11B1 | 1584 | cytochrome P450 family 11 subfamily B member 1 | P15538 |
| C1848296 | DOSAGE-SENSITIVE SEX REVERSAL | CYP11B1 | 1584 | cytochrome P450 family 11 subfamily B member 1 | P15538 |
| C0520463 | Chronic active hepatitis | CYP11B1 | 1584 | cytochrome P450 family 11 subfamily B member 1 | P15538 |
| C2936858 | Congenital adrenal hyperplasia due to 21 hydroxylase deficiency | CYP11B1 | 1584 | cytochrome P450 family 11 subfamily B member 1 | P15538 |
| C0001126 | Renal tubular acidosis | CYP11B1 | 1584 | cytochrome P450 family 11 subfamily B member 1 | P15538 |
| C0740457 | Malignant neoplasm of kidney | CYP11B1 | 1584 | cytochrome P450 family 11 subfamily B member 1 | P15538 |
| C0001430 | Adenoma | CYP11B1 | 1584 | cytochrome P450 family 11 subfamily B member 1 | P15538 |
