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loading...| Preferred Name |
BRUGADA SYNDROME 1 |
| Synonyms |
BRGDA1 |
| ID |
http://purl.bioontology.org/ontology/OMIM/601144 |
| altLabel |
BRGDA1 SUDDEN UNEXPLAINED NOCTURNAL DEATH SYNDROME SUNDS RIGHT BUNDLE BRANCH BLOCK, ST SEGMENT ELEVATION, AND SUDDEN DEATH SYNDROME CARDIAC CONDUCTION DEFECT, NONSPECIFIC |
| cui |
C4551804 C2748542 C1142166 |
| Gene Locus |
3p22.2 |
| Gene Symbol |
CDCD2 CMD1E SCN5A HB1 SSS1 LQT3 VF1 |
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU006088 http://purl.bioontology.org/ontology/OMIM/MTHU006117 |
| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
| notation |
601144 |
| OMIM Entry Type |
3 |
| OMIM MimType Value |
pound |
| prefLabel |
BRUGADA SYNDROME 1 |
| Scope Statement |
Caused by mutation in the sodium channel, voltage-gated, type V, alpha subunit gene (SCN5A, 600163.0004) [MOLECULAR BASIS] |
| tui |
T047 |
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