Details of Disease

General Information of Disease (ID: DISKQRGA)

Disease Name Nephronophthisis 19
Synonyms nephronophthisis 19; nephronophthisis type 19; nephronophthisis (disease) caused by mutation in DCDC2; DCDC2 nephronophthisis (disease); NPHP19
Definition Any nephronophthisis in which the cause of the disease is a mutation in the DCDC2 gene.
Disease Hierarchy
DISXU4HY: Nephronophthisis
DISKQRGA: Nephronophthisis 19
Disease Identifiers
MONDO ID
MONDO_0014537
UMLS CUI
C4015542
OMIM ID
616217
MedGen ID
863979

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
DCDC2 OTSUFH1H Strong Autosomal recessive [1]
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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.