Details of Disease | DrugMAP

General Information of Disease (ID: DISLBW49)

Disease Name	Azoospermia, obstructive, with nephrolithiasis
Synonyms	azoospermia, obstructive, with nephrolithiasis, X-linked recessive; OAZON
Disease Hierarchy	DISYKSRF: Genetic disease DISLBW49: Azoospermia, obstructive, with nephrolithiasis
Disease Identifiers	MONDO ID MONDO_0025356 UMLS CUI C5542351 OMIM ID 301060 MedGen ID 1779119

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
CLDN2	OTRF3D6Y	Limited	Unknown	[1]
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References

1	Identification of a missense variant in CLDN2 in obstructive azoospermia. J Hum Genet. 2019 Oct;64(10):1023-1032. doi: 10.1038/s10038-019-0642-0. Epub 2019 Jul 18.