Details of Disease

General Information of Disease (ID: DIS3CUS6)

Disease Name Spermatogenic failure 70
Synonyms SPGF70; spermatogenic failure 70
Disease Hierarchy
DIS3D1AI: Spermatogenic failure
DIS3CUS6: Spermatogenic failure 70
Disease Identifiers
MONDO ID
MONDO_0030733
UMLS CUI
C5676962
OMIM ID
619828
MedGen ID
1809945

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
PDHA2 OT9D9T2F Limited Unknown [1]
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References

1 Linked homozygous BMPR1B and PDHA2 variants in a consanguineous family with complex digit malformation and male infertility. Eur J Hum Genet. 2018 Jun;26(6):876-885. doi: 10.1038/s41431-018-0121-7. Epub 2018 Mar 26.