Details of Disease | DrugMAP

General Information of Disease (ID: DIS6LSO8)

Disease Name	Nephronophthisis 7
Synonyms	NPHP7; nephronophthisis type 7; GLIS2 nephronophthisis (disease); nephronophthisis 7; nephronophthisis (disease) caused by mutation in GLIS2
Definition	Any nephronophthisis in which the cause of the disease is a mutation in the GLIS2 gene.
Disease Hierarchy	DISXU4HY: Nephronophthisis DIS6LSO8: Nephronophthisis 7
Disease Identifiers	MONDO ID MONDO_0012680 UMLS CUI C1969092 OMIM ID 611498 MedGen ID 369409

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
GLIS2	OTOUUV1X	Strong	Autosomal recessive	[1]
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References

1	Loss of GLIS2 causes nephronophthisis in humans and mice by increased apoptosis and fibrosis. Nat Genet. 2007 Aug;39(8):1018-24. doi: 10.1038/ng2072. Epub 2007 Jul 8.