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Symbol
Name
ID

Nphp1
nephronophthisis 1 (juvenile) homolog (human)
MGI:1858233

Phenotype annotations related to homeostasis/metabolism

Darker colors indicate more annotations

Human Phenotypes	Decreased HDL cholesterol concentration	Hypertriglyceridemia	Elevated circulating creatinine concentration	Elevated circulating hepatic transaminase concentration	Impaired fasting glucose	Type II diabetes mellitus	Insulin resistance	Hepatic steatosis	Hyposthenuria
Disease(s) Associated with NPHP1	Decreased HDL cholesterol concentration	Hypertriglyceridemia	Elevated circulating creatinine concentration	Elevated circulating hepatic transaminase concentration	Impaired fasting glucose	Type II diabetes mellitus	Insulin resistance	Hepatic steatosis	Hyposthenuria
Bardet-Biedl syndrome
nephronophthisis 1
Senior-Loken syndrome

Mouse Phenotypes		increased circulating creatinine level
Availability	Mouse Genotype	increased circulating creatinine level
	Nphp1^em1Lisu/Nphp1^em1Lisu

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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