Details of Disease

General Information of Disease (ID: DIS4W4EA)

Disease Name Nephronophthisis 14
Synonyms Joubert syndrome 19; nephronophthisis 14; nephronophthisis type 14; NPHP14; ZNF423 nephronophthisis (disease); nephronophthisis (disease) caused by mutation in ZNF423
Definition Any nephronophthisis in which the cause of the disease is a mutation in the ZNF423 gene.
Disease Hierarchy
DISXU4HY: Nephronophthisis
DIS4W4EA: Nephronophthisis 14
Disease Identifiers
MONDO ID
MONDO_0013916
UMLS CUI
C3539071
OMIM ID
614844
MedGen ID
761313

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
ZNF423 OTU8QKMT Strong Autosomal recessive [1]
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References

1 Zfp423 controls proliferation and differentiation of neural precursors in cerebellar vermis formation. Proc Natl Acad Sci U S A. 2006 Dec 19;103(51):19424-9. doi: 10.1073/pnas.0609184103. Epub 2006 Dec 6.