Details of Disease

General Information of Disease (ID: DIS70FM2)

Disease Name Spinal muscular atrophy, distal, autosomal recessive, 6
Synonyms DSMA6
Disease Hierarchy
DISVJU8N: Neuronopathy, distal hereditary motor, autosomal recessive
DIS70FM2: Spinal muscular atrophy, distal, autosomal recessive, 6
Disease Identifiers
MONDO ID
MONDO_0859279
UMLS CUI
C5774201
OMIM ID
620011
MedGen ID
1823974

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
REEP1 OTEMVFX7 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.