Details of Disease | DrugMAP

General Information of Disease (ID: DISQKHXX)

Disease Name	Polycystic kidney disease 6 with or without polycystic liver disease
Synonyms	PKD6; DNAJB11 polycystic kidney disease; polycystic kidney disease 6 with or without polycystic liver disease; polycystic kidney disease caused by mutation in DNAJB11
Definition	Any polycystic kidney disease in which the cause of the disease is a mutation in the DNAJB11 gene.
Disease Hierarchy	DISBHWUI: Autosomal dominant polycystic kidney disease DISWS3UY: Polycystic kidney disease DISQKHXX: Polycystic kidney disease 6 with or without polycystic liver disease
Disease Identifiers	MONDO ID MONDO_0054842 UMLS CUI C4748044 OMIM ID 618061 MedGen ID 1648469

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
DNAJB11	OTDDK2SY	Strong	Autosomal dominant	[1]
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References

1	The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.