Details of Disease | DrugMAP

General Information of Disease (ID: DISBKKAZ)

Disease Name	Spermatogenic failure 53
Synonyms	SPGF53; spermatogenic failure 53
Disease Hierarchy	DIS3D1AI: Spermatogenic failure DISBKKAZ: Spermatogenic failure 53
Disease Identifiers	MONDO ID MONDO_0030989 UMLS CUI C5543253 OMIM ID 619258 MedGen ID 1787013

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
ACTL9	OTDOBD9M	Strong	Autosomal recessive	[1]
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References

1	Homozygous pathogenic variants in ACTL9 cause fertilization failure and male infertility in humans and mice. Am J Hum Genet. 2021 Mar 4;108(3):469-481. doi: 10.1016/j.ajhg.2021.02.004. Epub 2021 Feb 23.