General Information of Disease (ID: DISJU64N)

Disease Name Triokinase and FMN cyclase deficiency syndrome
Synonyms TKFCD; TRIOKINASE AND FMN CYCLASE DEFICIENCY SYNDROME
Disease Hierarchy
DISYKSRF: Genetic disease
DISJU64N: Triokinase and FMN cyclase deficiency syndrome
Disease Identifiers
MONDO ID
MONDO_0032927
UMLS CUI
C5394125
OMIM ID
618805
MedGen ID
1710207

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DME Molecule(s)
Gene Name DME ID Evidence Level Mode of Inheritance REF
TKFC DEX9ZJQ Limited Autosomal recessive [1]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
TKFC OTTWXIOI 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.