GENE NAME | NPHS1 |
CHROMOSOME | 19 |
ENSEMBL ID | ENSG00000161270 |
ENTREZ ID | 4868 |
UNIPROT ACCESSION NUMBER | O60500 |
GO MOLECULAR FUNCTION | protein binding |
ESSENTIAL IN MOUSE | Essential |
PATHWAYS | R-HSA-1500931; R-HSA-373753 |
5 combinations linked to NPHS1 | OLI257; OLI501; OLI321; OLI256; OLI255 |
5 variants linked to NPHS1 | NPHS1:c.2335-1G>A, ; NPHS1:c.563A>T, p.Asn188Ile; NPHS1:c.1930+11C>A, ; NPHS1:c.791C>G, p.Pro264Arg; NPHS1:c.275-2A>C, |
2 diseases linked to NPHS1 | Genetic steroid-resistant nephrotic syndrome; Congenital nephrotic syndrome |