Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 57122
Gene Symbol: NUP107
NUP107 		0.300 GermlineCausalMutation disease ORPHANET Biallelic Mutations in Nuclear Pore Complex Subunit NUP107 Cause Early-Childhood-Onset Steroid-Resistant Nephrotic Syndrome. 26411495 2015
Entrez Id: 7827
Gene Symbol: NPHS2
NPHS2 		0.610 CausalMutation disease CLINVAR Bigenic heterozygosity and the development of steroid-resistant focal segmental glomerulosclerosis. 18443213 2008
Entrez Id: 126859
Gene Symbol: AXDND1
AXDND1 		0.100 CausalMutation disease CLINVAR Bigenic heterozygosity and the development of steroid-resistant focal segmental glomerulosclerosis. 18443213 2008
Entrez Id: 7827
Gene Symbol: NPHS2
NPHS2 		0.610 CausalMutation disease CLINVAR Broadening the spectrum of diseases related to podocin mutations. 12707396 2003
Entrez Id: 7827
Gene Symbol: NPHS2
NPHS2 		0.610 GeneticVariation disease CLINVAR Clinical and epidemiological assessment of steroid-resistant nephrotic syndrome associated with the NPHS2 R229Q variant. 19145239 2009
Entrez Id: 126859
Gene Symbol: AXDND1
AXDND1 		0.100 GeneticVariation disease CLINVAR Clinical and epidemiological assessment of steroid-resistant nephrotic syndrome associated with the NPHS2 R229Q variant. 19145239 2009
Entrez Id: 7827
Gene Symbol: NPHS2
NPHS2 		0.610 CausalMutation disease CLINVAR Clinical features and long-term outcome of nephrotic syndrome associated with heterozygous NPHS1 and NPHS2 mutations. 19406966 2009
Entrez Id: 7827
Gene Symbol: NPHS2
NPHS2 		0.610 GeneticVariation disease CLINVAR Clinical value of NPHS2 analysis in early- and adult-onset steroid-resistant nephrotic syndrome. 20947785 2011
Entrez Id: 7827
Gene Symbol: NPHS2
NPHS2 		0.610 CausalMutation disease CLINVAR Clinical value of NPHS2 analysis in early- and adult-onset steroid-resistant nephrotic syndrome. 20947785 2011
Entrez Id: 126859
Gene Symbol: AXDND1
AXDND1 		0.100 GeneticVariation disease CLINVAR Clinical value of NPHS2 analysis in early- and adult-onset steroid-resistant nephrotic syndrome. 20947785 2011
Entrez Id: 126859
Gene Symbol: AXDND1
AXDND1 		0.100 CausalMutation disease CLINVAR Clinical value of NPHS2 analysis in early- and adult-onset steroid-resistant nephrotic syndrome. 20947785 2011
Entrez Id: 7827
Gene Symbol: NPHS2
NPHS2 		0.610 GeneticVariation disease CLINVAR Co-Inheritance of Functional Podocin Variants with Heterozygous Collagen IV Mutations Predisposes to Renal Failure. 26138234 2015
Entrez Id: 286204
Gene Symbol: CRB2
CRB2 		0.300 GermlineCausalMutation disease ORPHANET Defects of CRB2 cause steroid-resistant nephrotic syndrome. 25557779 2015
Entrez Id: 7827
Gene Symbol: NPHS2
NPHS2 		0.610 CausalMutation disease CLINVAR Disease-causing missense mutations in NPHS2 gene alter normal nephrin trafficking to the plasma membrane. 15496146 2004
Entrez Id: 7827
Gene Symbol: NPHS2
NPHS2 		0.610 GeneticVariation disease CLINVAR Disease-causing missense mutations in NPHS2 gene alter normal nephrin trafficking to the plasma membrane. 15496146 2004
Entrez Id: 126859
Gene Symbol: AXDND1
AXDND1 		0.100 GeneticVariation disease CLINVAR Disease-causing missense mutations in NPHS2 gene alter normal nephrin trafficking to the plasma membrane. 15496146 2004
Entrez Id: 5800
Gene Symbol: PTPRO
PTPRO 		0.300 GermlineCausalMutation disease ORPHANET Disruption of PTPRO causes childhood-onset nephrotic syndrome. 21722858 2011
Entrez Id: 7827
Gene Symbol: NPHS2
NPHS2 		0.610 CausalMutation disease CLINVAR Endoplasmic reticulum-retained podocin mutants are massively degraded by the proteasome. 29382718 2018
Entrez Id: 23607
Gene Symbol: CD2AP
CD2AP 		0.300 GermlineCausalMutation disease ORPHANET Focal segmental glomerulosclerosis in a patient homozygous for a CD2AP mutation. 17713465 2007
Entrez Id: 7490
Gene Symbol: WT1
WT1 		0.400 CausalMutation disease CLINVAR Frasier syndrome is caused by defective alternative splicing of WT1 leading to an altered ratio of WT1 +/-KTS splice isoforms. 9499425 1998
Entrez Id: 7827
Gene Symbol: NPHS2
NPHS2 		0.610 GeneticVariation disease CLINVAR Genetic screening in adolescents with steroid-resistant nephrotic syndrome. 23515051 2013
Entrez Id: 7490
Gene Symbol: WT1
WT1 		0.400 CausalMutation disease CLINVAR Genetic screening in adolescents with steroid-resistant nephrotic syndrome. 23515051 2013
Entrez Id: 126859
Gene Symbol: AXDND1
AXDND1 		0.100 GeneticVariation disease CLINVAR Genetic screening in adolescents with steroid-resistant nephrotic syndrome. 23515051 2013
Entrez Id: 7827
Gene Symbol: NPHS2
NPHS2 		0.610 GeneticVariation disease CLINVAR Genomic and clinical profiling of a national nephrotic syndrome cohort advocates a precision medicine approach to disease management. 28117080 2017
Entrez Id: 7827
Gene Symbol: NPHS2
NPHS2 		0.610 GeneticVariation disease CLINVAR Genotype-phenotype correlations in non-Finnish congenital nephrotic syndrome. 20507940 2010