Details of Disease

General Information of Disease (ID: DISPAQUV)

Disease Name Spermatogenic failure 45
Synonyms SPGF45
Disease Hierarchy
DIS3D1AI: Spermatogenic failure
DISPAQUV: Spermatogenic failure 45
Disease Identifiers
MONDO ID
MONDO_0033671
UMLS CUI
C5436791
OMIM ID
619094
MedGen ID
1776221

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
DNAH2 OT7J5LDI Moderate Autosomal recessive [1]
------------------------------------------------------------------------------------

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.