Details of Disease

General Information of Disease (ID: DISMTFHO)

Disease Name Febrile seizures, familial, 11
Synonyms convulsions, familial febrile, 11; FEB11; febrile seizures, familial, 11
Disease Hierarchy
DISD715V: Hereditary neurological disease
DISZCC8H: Acute repetitive seizure
DISMTFHO: Febrile seizures, familial, 11
Disease Identifiers
MONDO ID
MONDO_0024566
UMLS CUI
C3280734
OMIM ID
614418
MedGen ID
482364

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
CPA6 OT43RD23 Limited Autosomal recessive [1]
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References

1 Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.