Details of Disease

General Information of Disease (ID: DISPPL4H)

Disease Name Amyotrophic lateral sclerosis type 9
Synonyms ALS9; ANG amyotrophic lateral sclerosis; amyotrophic lateral sclerosis 9; amyotrophic lateral sclerosis caused by mutation in ANG; amyotrophic lateral sclerosis type 9
Definition Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the ANG gene.
Disease Hierarchy
DISWZ9CJ: Familial amyotrophic lateral sclerosis
DISPPL4H: Amyotrophic lateral sclerosis type 9
Disease Identifiers
MONDO ID
MONDO_0012753
MESH ID
C567499
UMLS CUI
C2678468
OMIM ID
611895
MedGen ID
395629
SNOMED CT ID
1204351003

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
ANG TTURHFP Strong Biomarker [1]
ANG TTURHFP Definitive Autosomal dominant [2]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
ANG OT3ECS6P Definitive Autosomal dominant [2]
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References

1 Association between the Angiogenin (ANG) K17I variant and amyotrophic lateral sclerosis risk in Caucasian: a meta-analysis.Neurol Sci. 2015 Dec;36(12):2163-8. doi: 10.1007/s10072-015-2344-5. Epub 2015 Aug 9.
2 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.