eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| brody myopathy | ||||
| Disease ID | 945 |
|---|---|
| Disease | brody myopathy |
| Definition | Brody myopathy is a genetic disease. - Wikipedia Reference: https://en.wikipedia.org/wiki/brody myopathy |
| Synonym | autosomal recessive brody myopathy brody disease brody myopathy (disorder) |
| Orphanet | |
| OMIM | |
| DOID | |
| UMLS | C1832918 |
| SNOMED-CT | |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:5) |
| Locus | Symbol | Locus(Total Locus:1) ATP2A1 | 16p11.2 |
| Disease ID | 945 |
|---|---|
| Disease | brody myopathy |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:1) HP:0003394 | Muscle cramps |
| Text Mined Phenotype | (Waiting for update.) |
| Disease ID | 945 |
|---|---|
| Disease | brody myopathy |
| Manually Symptom | (Waiting for update.) |
| Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:5) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs121918113 | NA | 487 | ATP2A1 | umls:C1832918 | CLINVAR | NA | 0.482714419 | NA | ATP2A1;NPIPB8 | 16 | 28887236 | C | T |
| rs121918114 | NA | 487 | ATP2A1 | umls:C1832918 | CLINVAR | NA | 0.482714419 | NA | ATP2A1;NPIPB8 | 16 | 28900841 | C | A |
| rs121918115 | NA | 487 | ATP2A1 | umls:C1832918 | CLINVAR | NA | 0.482714419 | NA | ATP2A1;NPIPB8 | 16 | 28902228 | C | T |
| rs121918115 | 10914677 | 1769 | DNAH8 | umls:C1832918 | BeFree | The mutation of Pro789 to Leu reduces the activity of the fast-twitch skeletal muscle sarco(endo)plasmic reticulum Ca2+ ATPase (SERCA1) and is associated with Brody disease. | 0.001357209 | 2000 | ATP2A1;NPIPB8 | 16 | 28902228 | C | T |
| rs121918115 | 10914677 | 487 | ATP2A1 | umls:C1832918 | BeFree | The mutation of Pro789 to Leu reduces the activity of the fast-twitch skeletal muscle sarco(endo)plasmic reticulum Ca2+ ATPase (SERCA1) and is associated with Brody disease. | 0.482714419 | 2000 | ATP2A1;NPIPB8 | 16 | 28902228 | C | T |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:0) |
|---|
| (Waiting for update.) |
Mapped by homologous gene(Total Items:1) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0003394 | Muscle cramps | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| Disease ID | 945 |
|---|---|
| Disease | brody myopathy |
| Case | (Waiting for update.) |