NPR2 - Gene browser

NPR2

natriuretic peptide receptor 2

HCNC Approved Symbol: NPR2 (HGNC:7944)
Genomic Coordinates: 9:35,791,591 - 35,809,731 (9p13.3)
Synonyms: GUCY2B, ANPb, GC-B, ANPRB, NPRB, AMDM
Disease Associations: This gene is associated with the following 3 diseases in OMIM.

17Patients

In total, 17 patients were diagnosed with a variant in the NPR2 gene.

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

017
Patient count

Skeletal dysplasia: 6 (35.3%)
Patient Count: 6 (35.3%)
% of total patients presenting each phenotype is shown in parentheses.
6 (35.3%)
Disproportionate short stature: 4 (23.5%)
Patient Count: 4 (23.5%)
% of total patients presenting each phenotype is shown in parentheses.
4 (23.5%)
Disproportionate dwarfism: 3 (17.6%)
Patient Count: 3 (17.6%)
% of total patients presenting each phenotype is shown in parentheses.
3 (17.6%)
Abnormal vertebral bodies: 2 (11.8%)
Patient Count: 2 (11.8%)
% of total patients presenting each phenotype is shown in parentheses.
2 (11.8%)
Brachydactyly: 2 (11.8%)
Patient Count: 2 (11.8%)
% of total patients presenting each phenotype is shown in parentheses.
2 (11.8%)