Details of Disease

General Information of Disease (ID: DIS5AA1I)

Disease Name Renal dysplasia, cystic, susceptibility to
Synonyms CYSRD; diffuse cystic renal dysplasia; renal dysplasia diffuse cystic; renal dysplasia, cystic, susceptibility to
Disease Hierarchy
DIS98MYE: Inherited disease susceptibility
DIS5AA1I: Renal dysplasia, cystic, susceptibility to
Disease Identifiers
MONDO ID
MONDO_0011037
UMLS CUI
C3275898
OMIM ID
601331
MedGen ID
477529

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
BICC1 OTYRKIJ1 Limited Autosomal dominant [1]
------------------------------------------------------------------------------------

References

1 Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.