Source: ORPHANET

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4868
Gene Symbol: NPHS1
NPHS1
CUI: C1868672
Disease: NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE
NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE 		0.400 GermlineCausalMutation ORPHANET Nephrin mutations cause childhood- and adult-onset focal segmental glomerulosclerosis. 19812541

2009
Entrez Id: 4868
Gene Symbol: NPHS1
NPHS1
CUI: C1868672
Disease: NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE
NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE 		0.400 GermlineCausalMutation ORPHANET Nephrin mutations can cause childhood-onset steroid-resistant nephrotic syndrome. 18614772

2008
Entrez Id: 4868
Gene Symbol: NPHS1
NPHS1
CUI: C1868672
Disease: NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE
NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE 		0.400 GermlineCausalMutation 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