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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 |
|---|---|---|---|---|---|
| C0152025 | Polyneuropathy | FUCA1 | 2517 | alpha-L-fucosidase 1 | P04066 |
| C0221356 | Brachycephaly | FUCA1 | 2517 | alpha-L-fucosidase 1 | P04066 |
| C0426970 | Spastic Quadriplegia | FUCA1 | 2517 | alpha-L-fucosidase 1 | P04066 |
| C0206694 | Mucoepidermoid Carcinoma | FUCA1 | 2517 | alpha-L-fucosidase 1 | P04066 |
| C0238463 | Papillary thyroid carcinoma | FUCA1 | 2517 | alpha-L-fucosidase 1 | P04066 |
| 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 |
