Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 7490
Gene Symbol: WT1
WT1 		0.400 GeneticVariation disease CLINVAR
Entrez Id: 7490
Gene Symbol: WT1
WT1 		0.400 CausalMutation disease CLINVAR Germline intronic and exonic mutations in the Wilms' tumour gene (WT1) affecting urogenital development. 1302008 1992
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: 81
Gene Symbol: ACTN4
ACTN4 		0.310 GermlineCausalMutation disease ORPHANET Mutations in ACTN4, encoding alpha-actinin-4, cause familial focal segmental glomerulosclerosis. 10700177 2000
Entrez Id: 7827
Gene Symbol: NPHS2
NPHS2 		0.610 CausalMutation disease CLINVAR NPHS2, encoding the glomerular protein podocin, is mutated in autosomal recessive steroid-resistant nephrotic syndrome. 10742096 2000
Entrez Id: 7827
Gene Symbol: NPHS2
NPHS2 		0.610 GeneticVariation disease CLINVAR NPHS2, encoding the glomerular protein podocin, is mutated in autosomal recessive steroid-resistant nephrotic syndrome. 10742096 2000
Entrez Id: 126859
Gene Symbol: AXDND1
AXDND1 		0.100 GeneticVariation disease CLINVAR NPHS2, encoding the glomerular protein podocin, is mutated in autosomal recessive steroid-resistant nephrotic syndrome. 10742096 2000
Entrez Id: 81
Gene Symbol: ACTN4
ACTN4 		0.310 GeneticVariation disease BEFREE Haplotype analysis suggests that this FSGS gene is located in a 19-cM region flanked by D1S416 and D1S413, of which 6 cM overlaps with SRN1, suggesting that these distinct clinical subsets of kidney disease may be allelic. 10966492 2000
Entrez Id: 7827
Gene Symbol: NPHS2
NPHS2 		0.610 CausalMutation disease CLINVAR Prevalence, genetics, and clinical features of patients carrying podocin mutations in steroid-resistant nonfamilial focal segmental glomerulosclerosis. 11729243 2001
Entrez Id: 7827
Gene Symbol: NPHS2
NPHS2 		0.610 GeneticVariation disease CLINVAR Podocin, a raft-associated component of the glomerular slit diaphragm, interacts with CD2AP and nephrin. 11733557 2001
Entrez Id: 7827
Gene Symbol: NPHS2
NPHS2 		0.610 GeneticVariation disease CLINVAR Novel mutations in NPHS2 detected in both familial and sporadic steroid-resistant nephrotic syndrome. 11805166 2002
Entrez Id: 7827
Gene Symbol: NPHS2
NPHS2 		0.610 GermlineCausalMutation disease ORPHANET Novel mutations in NPHS2 detected in both familial and sporadic steroid-resistant nephrotic syndrome. 11805166 2002
Entrez Id: 7827
Gene Symbol: NPHS2
NPHS2 		0.610 CausalMutation disease CLINVAR Novel mutations in NPHS2 detected in both familial and sporadic steroid-resistant nephrotic syndrome. 11805166 2002
Entrez Id: 126859
Gene Symbol: AXDND1
AXDND1 		0.100 CausalMutation disease CLINVAR Novel mutations in NPHS2 detected in both familial and sporadic steroid-resistant nephrotic syndrome. 11805166 2002
Entrez Id: 126859
Gene Symbol: AXDND1
AXDND1 		0.100 GeneticVariation disease CLINVAR Novel mutations in NPHS2 detected in both familial and sporadic steroid-resistant nephrotic syndrome. 11805166 2002
Entrez Id: 7827
Gene Symbol: NPHS2
NPHS2 		0.610 CausalMutation disease CLINVAR Mutations in NPHS2 encoding podocin are a prevalent cause of steroid-resistant nephrotic syndrome among Israeli-Arab children. 11805168 2002
Entrez Id: 7827
Gene Symbol: NPHS2
NPHS2 		0.610 GeneticVariation disease BEFREE To investigate the mechanisms by which mutations might cause glomerular protein leak, we analysed NPHS1/NPHS2 genotype/phenotype relationships in 41 non-Finnish CNF patients, four patients with congenital (onset 0 to 3 months) focal segmental glomerulosclerosis and five patients with possible SRN1 (onset 6 months to 2 years). 11854170 2002
Entrez Id: 7827
Gene Symbol: NPHS2
NPHS2 		0.610 CausalMutation disease CLINVAR Genotypephenotype correlations of NPHS1 and NPHS2 mutations in nephrotic syndrome advocate a functional inter-relationship in glomerular filtration. 11854170 2002
Entrez Id: 4868
Gene Symbol: NPHS1
NPHS1 		0.400 GermlineCausalMutation disease ORPHANET To investigate the mechanisms by which mutations might cause glomerular protein leak, we analysed NPHS1/NPHS2 genotype/phenotype relationships in 41 non-Finnish CNF patients, four patients with congenital (onset 0 to 3 months) focal segmental glomerulosclerosis and five patients with possible SRN1 (onset 6 months to 2 years). 11854170 2002
Entrez Id: 7827
Gene Symbol: NPHS2
NPHS2 		0.610 GeneticVariation disease CLINVAR NPHS2 mutations in late-onset focal segmental glomerulosclerosis: R229Q is a common disease-associated allele. 12464671 2002
Entrez Id: 126859
Gene Symbol: AXDND1
AXDND1 		0.100 GeneticVariation disease CLINVAR NPHS2 mutations in late-onset focal segmental glomerulosclerosis: R229Q is a common disease-associated allele. 12464671 2002
Entrez Id: 7827
Gene Symbol: NPHS2
NPHS2 		0.610 CausalMutation disease CLINVAR Intracellular mislocalization of mutant podocin and correction by chemical chaperones. 12649741 2003
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 CausalMutation disease CLINVAR Plasma membrane targeting of podocin through the classical exocytic pathway: effect of NPHS2 mutations. 14675423 2004
Entrez Id: 7827
Gene Symbol: NPHS2
NPHS2 		0.610 GeneticVariation disease CLINVAR Plasma membrane targeting of podocin through the classical exocytic pathway: effect of NPHS2 mutations. 14675423 2004