Details of Disease

General Information of Disease (ID: DISPUO2J)

Disease Name Premature ovarian failure 14
Synonyms GDF9-related primary ovarian insufficiency; POF14; premature ovarian failure 14
Disease Hierarchy
DIS4V9SY: Inherited primary ovarian failure
DISPUO2J: Premature ovarian failure 14
Disease Identifiers
MONDO ID
MONDO_0044777
UMLS CUI
C4693941
OMIM ID
618014
MedGen ID
1646133

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
GDF9 OTNTVKVU Strong Autosomal recessive [1]
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References

1 Identification of the first homozygous 1-bp deletion in GDF9 gene leading to primary ovarian insufficiency by using targeted massively parallel sequencing. Clin Genet. 2018 Feb;93(2):408-411. doi: 10.1111/cge.13156. Epub 2017 Dec 26.