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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 |
|---|---|---|---|---|---|
| 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 |
| C0079731 | B-Cell Lymphomas | FCER2 | 2208 | Fc fragment of IgE receptor II | P06734 |
| C0023434 | Chronic Lymphocytic Leukemia | FCER2 | 2208 | Fc fragment of IgE receptor II | P06734 |
| C0398689 | Hyper-IgM Immunodeficiency Syndrome, Type 1 | FCER2 | 2208 | Fc fragment of IgE receptor II | P06734 |
| C0334634 | Malignant lymphoma, lymphocytic, intermediate differentiation, diffuse | FCER2 | 2208 | Fc fragment of IgE receptor II | P06734 |
| C1868683 | B-CELL MALIGNANCY, LOW-GRADE | FCER2 | 2208 | Fc fragment of IgE receptor II | P06734 |
| C0023418 | leukemia | FCER2 | 2208 | Fc fragment of IgE receptor II | P06734 |
| C0272236 | Hyperimmunoglobulin M syndrome | FCER2 | 2208 | Fc fragment of IgE receptor II | P06734 |
| C1302547 | Chronic Lymphocytic Leukemia/Small Lymphocytic Lymphoma | FCER2 | 2208 | Fc fragment of IgE receptor II | P06734 |
| C0006413 | Burkitt Lymphoma | FCER2 | 2208 | Fc fragment of IgE receptor II | P06734 |
| C1292769 | Precursor B-cell lymphoblastic leukemia | FCER2 | 2208 | Fc fragment of IgE receptor II | P06734 |
| C0085129 | Bronchial Hyperreactivity | FCER2 | 2208 | Fc fragment of IgE receptor II | P06734 |
| C0026691 | Mucocutaneous Lymph Node Syndrome | FCER2 | 2208 | Fc fragment of IgE receptor II | P06734 |
| C0024301 | Lymphoma, Follicular | FCER2 | 2208 | Fc fragment of IgE receptor II | P06734 |
| C2931822 | Nasopharyngeal carcinoma | FCER2 | 2208 | Fc fragment of IgE receptor II | P06734 |
