Details of Disease

General Information of Disease (ID: DISBQ58P)

Disease Name Spermatogenic failure 52
Synonyms SPGF52; spermatogenic failure 52
Disease Hierarchy
DIS3D1AI: Spermatogenic failure
DISBQ58P: Spermatogenic failure 52
Disease Identifiers
MONDO ID
MONDO_0030938
UMLS CUI
C5543094
OMIM ID
619202
MedGen ID
1785685

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
C14orf39 OTFKQ6HO Limited Unknown [1]
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References

1 Homozygous mutations in C14orf39/SIX6OS1 cause non-obstructive azoospermia and premature ovarian insufficiency in humans. Am J Hum Genet. 2021 Feb 4;108(2):324-336. doi: 10.1016/j.ajhg.2021.01.010. Epub 2021 Jan 27.