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 |
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DisGeNET | July 29, 2024 |
Disease ID | Disease Name | Gene Symbol | Gene ID ▲ | Gene Name | UniProt ID |
---|---|---|---|---|---|
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 |
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 |
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Last updated: August 19, 2024