rs763972372, NPHS1

N. diseases: 2
Disease: Finnish congenital nephrotic syndrome ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Finnish congenital nephrotic syndrome
CUI: C0403399
Disease: Finnish congenital nephrotic syndrome
0.700 GeneticVariation CLINVAR Three Novel Mutations in the NPHS1 Gene in Vietnamese Patients with Congenital Nephrotic Syndrome. 28392951 2017
Finnish congenital nephrotic syndrome
CUI: C0403399
Disease: Finnish congenital nephrotic syndrome
0.700 GeneticVariation CLINVAR Spectrum of mutations in Chinese children with steroid-resistant nephrotic syndrome. 28204945 2017
Finnish congenital nephrotic syndrome
CUI: C0403399
Disease: Finnish congenital nephrotic syndrome
0.700 GeneticVariation CLINVAR Novel NPHS1 splice site mutations in a Chinese child with congenital nephrotic syndrome. 25729976 2015
Finnish congenital nephrotic syndrome
CUI: C0403399
Disease: Finnish congenital nephrotic syndrome
0.700 GeneticVariation CLINVAR A single-gene cause in 29.5% of cases of steroid-resistant nephrotic syndrome. 25349199 2015
Finnish congenital nephrotic syndrome
CUI: C0403399
Disease: Finnish congenital nephrotic syndrome
0.700 GeneticVariation CLINVAR Mutational analysis of podocyte genes in children with sporadic steroid-resistant nephrotic syndrome. 25501161 2014
Finnish congenital nephrotic syndrome
CUI: C0403399
Disease: Finnish congenital nephrotic syndrome
0.700 GeneticVariation CLINVAR [NPHS1 mutations in a Chinese family with congenital nephrotic syndrome]. 16316524 2005