Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 213
Gene Symbol: ALB
ALB 		0.010 Biomarker disease BEFREE Recommendations for management of Finnish-type congenital nephrotic syndrome (CNS) followed by many teams include daily albumin infusions, early bilateral nephrectomy, dialysis and transplantation. 29474669 2019
Entrez Id: 10376
Gene Symbol: TUBA1B
TUBA1B 		0.010 AlteredExpression disease BEFREE Changes in cytoplasmic alpha-tubulin expression and reduced nephrin expression (20%) indicating association of incomplete podocyte maturation with failure of GFB function and appearance of prenatal proteinuria in CNF patients. 30193978 2018
Entrez Id: 286204
Gene Symbol: CRB2
CRB2 		0.010 GeneticVariation disease BEFREE Sequence variants in CRB2 cause a syndrome with greatly elevated maternal serum alpha-fetoprotein and amniotic fluid alpha-fetoprotein levels, cerebral ventriculomegaly and renal findings similar to Finnish congenital nephrosis. 27004616 2016
Entrez Id: 7827
Gene Symbol: NPHS2
NPHS2 		0.010 GeneticVariation disease BEFREE We confirm an overlap in the NPHS1/NPHS2 mutation spectrum with the characterization of a unique di-genic inheritance of NPHS1 and NPHS2 mutations, which results in a 'tri-allelic' hit and appears to modify the phenotype from CNF to one of congenital focal segmental glomerulosclerosis (FSGS). 11854170 2002
Entrez Id: 333
Gene Symbol: APLP1
APLP1 		0.010 Biomarker disease BEFREE Because of its location and the proposed interference of amyloid with basement membrane assembly, APLP1 has been considered a candidate gene for CNF. 9521588 1998
Entrez Id: 11181
Gene Symbol: TREH
TREH 		0.010 Biomarker disease BEFREE Prenatal detection of the congenital nephrotic syndrome (Finnish type) by trehalase assay in amniotic fluid. 6207521 1984
Entrez Id: 174
Gene Symbol: AFP
AFP 		0.030 AlteredExpression disease BEFREE Sequence variants in CRB2 cause a syndrome with greatly elevated maternal serum alpha-fetoprotein and amniotic fluid alpha-fetoprotein levels, cerebral ventriculomegaly and renal findings similar to Finnish congenital nephrosis. 27004616 2016
Entrez Id: 174
Gene Symbol: AFP
AFP 		0.030 GeneticVariation disease BEFREE We strongly recommend the use of mutation analysis of the NPHS1 gene to confirm the AFP results in prenatal diagnosis of NPHS1. 12047969 2002
Entrez Id: 174
Gene Symbol: AFP
AFP 		0.030 Biomarker disease BEFREE At Kuopio University Hospital, a total of 1303 pregnant women were offered carrier screening for CNF at the time of first trimester nuchal fold translucency measurement when fetally derived alpha-fetoprotein is still produced by the yolk sac. 11241530 2001
Entrez Id: 56052
Gene Symbol: ALG1
ALG1 		0.100 GeneticVariation disease CLINVAR
Entrez Id: 100506134
Gene Symbol: TTC21B-AS1
TTC21B-AS1 		0.100 CausalMutation disease CLINVAR
Entrez Id: 79809
Gene Symbol: TTC21B
TTC21B 		0.100 CausalMutation disease CLINVAR
Entrez Id: 4868
Gene Symbol: NPHS1
NPHS1 		0.800 CausalMutation disease CLINVAR Treatment and outcome of congenital nephrotic syndrome. 29474669 2019
Entrez Id: 4868
Gene Symbol: NPHS1
NPHS1 		0.800 GeneticVariation disease CLINVAR Clinical genetic testing using a custom-designed steroid-resistant nephrotic syndrome gene panel: analysis and recommendations. 28780565 2017
Entrez Id: 4868
Gene Symbol: NPHS1
NPHS1 		0.800 GeneticVariation disease CLINVAR Three Novel Mutations in the NPHS1 Gene in Vietnamese Patients with Congenital Nephrotic Syndrome. 28392951 2017
Entrez Id: 4868
Gene Symbol: NPHS1
NPHS1 		0.800 CausalMutation disease CLINVAR Genomic and clinical profiling of a national nephrotic syndrome cohort advocates a precision medicine approach to disease management. 28117080 2017
Entrez Id: 4868
Gene Symbol: NPHS1
NPHS1 		0.800 GeneticVariation disease CLINVAR Spectrum of mutations in Chinese children with steroid-resistant nephrotic syndrome. 28204945 2017
Entrez Id: 4868
Gene Symbol: NPHS1
NPHS1 		0.800 CausalMutation disease CLINVAR Spectrum of mutations in Chinese children with steroid-resistant nephrotic syndrome. 28204945 2017
Entrez Id: 4868
Gene Symbol: NPHS1
NPHS1 		0.800 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: 4868
Gene Symbol: NPHS1
NPHS1 		0.800 GeneticVariation disease CLINVAR NPHS1 gene mutations confirm congenital nephrotic syndrome in four Brazilian cases: A novel mutation is described. 26560236 2016
Entrez Id: 4868
Gene Symbol: NPHS1
NPHS1 		0.800 CausalMutation disease CLINVAR Rapid Response to Cyclosporin A and Favorable Renal Outcome in Nongenetic Versus Genetic Steroid-Resistant Nephrotic Syndrome. 26668027 2016
Entrez Id: 4868
Gene Symbol: NPHS1
NPHS1 		0.800 GeneticVariation disease UNIPROT NPHS1 gene mutations confirm congenital nephrotic syndrome in four Brazilian cases: A novel mutation is described. 26560236 2016
Entrez Id: 4868
Gene Symbol: NPHS1
NPHS1 		0.800 CausalMutation disease CLINVAR Novel NPHS1 gene mutations in a Chinese family with congenital nephrotic syndrome. 27019444 2016
Entrez Id: 4868
Gene Symbol: NPHS1
NPHS1 		0.800 CausalMutation disease CLINVAR Targeted next-generation sequencing in steroid-resistant nephrotic syndrome: mutations in multiple glomerular genes may influence disease severity. 25407002 2015
Entrez Id: 4868
Gene Symbol: NPHS1
NPHS1 		0.800 GeneticVariation disease UNIPROT SIPA1L3 identified by linkage analysis and whole-exome sequencing as a novel gene for autosomal recessive congenital cataract. 25804400 2015