Details of Disease

General Information of Disease (ID: DIS7DDVN)

Disease Name Premature ovarian failure 6
Synonyms Pof6; FIGLA primary ovarian failure; premature ovarian failure 6; primary ovarian failure caused by mutation in FIGLA; premature ovarian failure type 6
Definition Any primary ovarian failure in which the cause of the disease is a mutation in the FIGLA gene.
Disease Hierarchy
DIS4V9SY: Inherited primary ovarian failure
DIS7DDVN: Premature ovarian failure 6
Disease Identifiers
MONDO ID
MONDO_0012861
MESH ID
C567351
UMLS CUI
C2676742
OMIM ID
612310
MedGen ID
394115

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
FIGLA OTARXZN8 Moderate 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.