rs74315343, NPHS2

N. diseases: 5
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE
CUI: C1868672
Disease: NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE
0.700 CausalMutation CLINVAR Mutations in NPHS2 encoding podocin are a prevalent cause of steroid-resistant nephrotic syndrome among Israeli-Arab children. 11805168 2002
Idiopathic Nephrotic Syndrome
CUI: C3496337
Disease: Idiopathic Nephrotic Syndrome
0.700 CausalMutation CLINVAR Mutations in NPHS2 encoding podocin are a prevalent cause of steroid-resistant nephrotic syndrome among Israeli-Arab children. 11805168 2002
Nephrotic Syndrome
CUI: C0027726
Disease: Nephrotic Syndrome
0.010 GeneticVariation BEFREE In this case report, we describe a 9-year-old girl with the R138X NPHS2 mutation who presented with recurrent nephrotic syndrome 4 years after renal transplantation from a deceased donor, and was treated with plasmapheresis with a partial response. 17109732 2007
Steroid-resistant nephrotic syndrome
CUI: C0403397
Disease: Steroid-resistant nephrotic syndrome
0.010 GeneticVariation BEFREE Twenty-two children with SRNS from six unrelated Arab families were found to be homozygous for the R138X mutation in NPHS2. 16291839 2006
Steroid resistant nephrotic syndrome of childhood
CUI: C3266102
Disease: Steroid resistant nephrotic syndrome of childhood
0.010 GeneticVariation BEFREE Twenty-two children with SRNS from six unrelated Arab families were found to be homozygous for the R138X mutation in NPHS2. 16291839 2006