Details of Disease | DrugMAP

General Information of Disease (ID: DISNVHUB)

Disease Name	Spermatogenic failure, X-linked, 3
Synonyms	spermatogenic failure, X-linked, 3, X-linked recessive; spermatogenic failure, X-linked, 3; SPGFX3
Disease Hierarchy	DIS3D1AI: Spermatogenic failure DISNVHUB: Spermatogenic failure, X-linked, 3
Disease Identifiers	MONDO ID MONDO_0025354 UMLS CUI C5542347 OMIM ID 301059 MedGen ID 1784059

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
CFAP47	OTKB5HWT	Limited	X-linked	[1]
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References

1	Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.