Details of Disease

General Information of Disease (ID: DISPF5HX)

Disease Name Spermatogenic failure 20
Synonyms SPGF20; spermatogenic failure 20
Disease Hierarchy
DIS3D1AI: Spermatogenic failure
DISPF5HX: Spermatogenic failure 20
Disease Identifiers
MONDO ID
MONDO_0054724
UMLS CUI
C4539824
OMIM ID
617593
MedGen ID
1621256

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
CFAP44 OT1273MD Moderate 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.