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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 |
|---|---|---|---|---|---|
| C0265534 | Scaphycephaly | FREM1 | 158326 | FRAS1 related extracellular matrix 1 | Q5H8C1 |
| C0235833 | Congenital diaphragmatic hernia | FREM1 | 158326 | FRAS1 related extracellular matrix 1 | Q5H8C1 |
| C0019693 | HIV Infections | FREM1 | 158326 | FRAS1 related extracellular matrix 1 | Q5H8C1 |
| C0221356 | Brachycephaly | FREM1 | 158326 | FRAS1 related extracellular matrix 1 | Q5H8C1 |
| C0478099 | Other deletions of part of a chromosome | FREM1 | 158326 | FRAS1 related extracellular matrix 1 | Q5H8C1 |
| C0019284 | Diaphragmatic Hernia | FREM1 | 158326 | FRAS1 related extracellular matrix 1 | Q5H8C1 |
| C0026010 | Microphthalmos | FREM1 | 158326 | FRAS1 related extracellular matrix 1 | Q5H8C1 |
| C0265535 | Trigonocephaly | FREM1 | 158326 | FRAS1 related extracellular matrix 1 | Q5H8C1 |
| C1609433 | Congenital absence of kidneys syndrome | FREM1 | 158326 | FRAS1 related extracellular matrix 1 | Q5H8C1 |
| C0015397 | Disorder of eye | FREM1 | 158326 | FRAS1 related extracellular matrix 1 | Q5H8C1 |
| C1833340 | Synostotic Posterior Plagiocephaly | FREM1 | 158326 | FRAS1 related extracellular matrix 1 | Q5H8C1 |
| C1860819 | Metopic synostosis | FREM1 | 158326 | FRAS1 related extracellular matrix 1 | Q5H8C1 |
| C0001815 | Primary Myelofibrosis | FREM1 | 158326 | FRAS1 related extracellular matrix 1 | Q5H8C1 |
| C0542519 | Congenital absence of kidney | FREM1 | 158326 | FRAS1 related extracellular matrix 1 | Q5H8C1 |
| 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 |
| C3151055 | ADRENAL INSUFFICIENCY, CONGENITAL, WITH 46,XY SEX REVERSAL, PARTIAL OR COMPLETE | CYP11A1 | 1583 | cytochrome P450 family 11 subfamily A member 1 | P05108 |
| C0848558 | Hypospadias | CYP11A1 | 1583 | cytochrome P450 family 11 subfamily A member 1 | P05108 |
| C1704272 | Benign Prostatic Hyperplasia | CYP11A1 | 1583 | cytochrome P450 family 11 subfamily A member 1 | P05108 |
| C0023903 | Liver neoplasms | CYP11A1 | 1583 | cytochrome P450 family 11 subfamily A member 1 | P05108 |
| C0520463 | Chronic active hepatitis | CYP11A1 | 1583 | cytochrome P450 family 11 subfamily A member 1 | P05108 |
| C0175701 | Aarskog syndrome | CYP11A1 | 1583 | cytochrome P450 family 11 subfamily A member 1 | P05108 |
| C0264408 | Childhood asthma | CYP11A1 | 1583 | cytochrome P450 family 11 subfamily A member 1 | P05108 |
