NPHS1 - Gene browser

NPHS1

NPHS1 adhesion molecule, nephrin

HCNC Approved Symbol: NPHS1 (HGNC:7908)
Genomic Coordinates: 19:35,825,372 - 35,852,504 (19q13.12)
Synonyms: CNF, NPHN
Disease Associations: This gene is associated with the following 1 diseases in OMIM.

34Patients

In total, 34 patients were diagnosed with a variant in the NPHS1 gene.

(Top 5 only, Patient count*)
*% of total patients presenting each phenotype is shown in parentheses.

034
Patient count

Proteinuria: 15 (44.1%)
Patient Count: 15 (44.1%)
% of total patients presenting each phenotype is shown in parentheses.
15 (44.1%)
Congenital nephrotic syndrome: 13 (38.2%)
Patient Count: 13 (38.2%)
% of total patients presenting each phenotype is shown in parentheses.
13 (38.2%)
Nephrotic syndrome: 9 (26.5%)
Patient Count: 9 (26.5%)
% of total patients presenting each phenotype is shown in parentheses.
9 (26.5%)
Hematuria: 4 (11.8%)
Patient Count: 4 (11.8%)
% of total patients presenting each phenotype is shown in parentheses.
4 (11.8%)
Hydronephrosis: 2 (5.9%)
Patient Count: 2 (5.9%)
% of total patients presenting each phenotype is shown in parentheses.
2 (5.9%)