Details of Disease

General Information of Disease (ID: DISIYFO0)

Disease Name Polycystic kidney disease 7
Synonyms polycystic kidney disease 7; PKD7
Disease Hierarchy
DISWS3UY: Polycystic kidney disease
DISIYFO0: Polycystic kidney disease 7
Disease Identifiers
MONDO ID
MONDO_0031062
UMLS CUI
C5774222
OMIM ID
620056
MedGen ID
1823995

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
ALG5 OT006CEI Strong Autosomal dominant [1]
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References

1 Monoallelic pathogenic ALG5 variants cause atypical polycystic kidney disease and interstitial fibrosis. Am J Hum Genet. 2022 Aug 4;109(8):1484-1499. doi: 10.1016/j.ajhg.2022.06.013. Epub 2022 Jul 26.