NPHP1, nephrocystin 1, 4867

N. diseases: 126; N. variants: 11
Disease: Chronic kidney disease stage 5 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2316810
Disease: Chronic kidney disease stage 5
Chronic kidney disease stage 5 		0.130 GeneticVariation disease BEFREE Mutations in the <i>NPHP1</i> gene, coding for human nephrocystin-1 (NPHP1), cause the autosomal recessive disease nephronophthisis, the most common cause of end-stage renal disease in children and adolescents. 31345020 2019
CUI: C2316810
Disease: Chronic kidney disease stage 5
Chronic kidney disease stage 5 		0.130 Biomarker disease BEFREE NPHP1 is the major subtype leading to pediatric end-stage renal disease (ESRD).Reports of adult NPHP1 are rare. 31096956 2019
CUI: C2316810
Disease: Chronic kidney disease stage 5
Chronic kidney disease stage 5 		0.130 Biomarker disease BEFREE In summary, the new marker provides a diagnostic tool to aid in the diagnosis of NPH, while the progression charts offer a standard for an assessment of the rate of progression to ESRD for patients with NPH1 to be used in future therapeutic trials and for a prediction of the individual course of the disease. 8995741 1997
CUI: C2316810
Disease: Chronic kidney disease stage 5
Chronic kidney disease stage 5 		0.130 Biomarker disease HPO