Details of Disease

General Information of Disease (ID: DIS8XE44)

Disease Name Amyotrophic lateral sclerosis 27, juvenile
Disease Hierarchy
DISWZ9CJ: Familial amyotrophic lateral sclerosis
DIS8XE44: Amyotrophic lateral sclerosis 27, juvenile
Disease Identifiers
MONDO ID
MONDO_0859529
UMLS CUI
C5830359
OMIM ID
620285
MedGen ID
1840995

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
SPTLC1 OTN0Z98K Strong Autosomal dominant [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.