General Information of Disease (ID: DISW2NX3)

Disease Name Spermatogenic failure 43
Synonyms SPGF43; SPERMATOGENIC FAILURE 43
Disease Hierarchy
DIS3D1AI: Spermatogenic failure
DISW2NX3: Spermatogenic failure 43
Disease Identifiers
MONDO ID
MONDO_0032898
UMLS CUI
C5231490
OMIM ID
618751
MedGen ID
1684830

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
SPEF2 OTO04K1T Strong 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.