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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 |
| C0011195 | Dejerine-Sottas Disease (disorder) | FIG4 | 9896 | FIG4 phosphoinositide 5-phosphatase | Q92562 |
| C0154682 | Lateral Sclerosis | FIG4 | 9896 | FIG4 phosphoinositide 5-phosphatase | Q92562 |
| C1970011 | CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J | FIG4 | 9896 | FIG4 phosphoinositide 5-phosphatase | Q92562 |
| C0027888 | Hereditary Motor and Sensory Neuropathies | FIG4 | 9896 | FIG4 phosphoinositide 5-phosphatase | Q92562 |
| C1857663 | Yunis Varon syndrome | FIG4 | 9896 | FIG4 phosphoinositide 5-phosphatase | Q92562 |
| C0085078 | Lysosomal Storage Diseases | FIG4 | 9896 | FIG4 phosphoinositide 5-phosphatase | Q92562 |
| C3711370 | Spastic Paraplegia Type 7 | FIG4 | 9896 | FIG4 phosphoinositide 5-phosphatase | Q92562 |
| C2675491 | AMYOTROPHIC LATERAL SCLEROSIS 11 | FIG4 | 9896 | FIG4 phosphoinositide 5-phosphatase | Q92562 |
| C0007959 | Charcot-Marie-Tooth Disease | FIG4 | 9896 | FIG4 phosphoinositide 5-phosphatase | Q92562 |
| C0038220 | Status Epilepticus | FIG4 | 9896 | FIG4 phosphoinositide 5-phosphatase | Q92562 |
| C0027819 | Neuroblastoma | FIG4 | 9896 | FIG4 phosphoinositide 5-phosphatase | Q92562 |
| C0442874 | Neuropathy | FIG4 | 9896 | FIG4 phosphoinositide 5-phosphatase | Q92562 |
| C0020538 | Hypertensive disease | FIG4 | 9896 | FIG4 phosphoinositide 5-phosphatase | Q92562 |
| C1853235 | Sclerocornea | FIG4 | 9896 | FIG4 phosphoinositide 5-phosphatase | Q92562 |
