NMNAT1 - Gene browser

NMNAT1

nicotinamide nucleotide adenylyltransferase 1

HCNC Approved Symbol: NMNAT1 (HGNC:17877)
Genomic Coordinates: 1:9,942,923 - 9,996,892 (1p36.22)
Synonyms: NMNAT, PNAT1, LCA9
Disease Associations: This gene is associated with the following 2 diseases in OMIM.

11Patients

In total, 11 patients were diagnosed with a variant in the NMNAT1 gene.

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

011
Patient count

Decreased visual acuity: 5 (45.5%)
Patient Count: 5 (45.5%)
% of total patients presenting each phenotype is shown in parentheses.
5 (45.5%)
Night blindness: 5 (45.5%)
Patient Count: 5 (45.5%)
% of total patients presenting each phenotype is shown in parentheses.
5 (45.5%)
Retinitis pigmentosa: 5 (45.5%)
Patient Count: 5 (45.5%)
% of total patients presenting each phenotype is shown in parentheses.
5 (45.5%)
Photophobia: 2 (18.2%)
Patient Count: 2 (18.2%)
% of total patients presenting each phenotype is shown in parentheses.
2 (18.2%)
Visual field restriction: 2 (18.2%)
Patient Count: 2 (18.2%)
% of total patients presenting each phenotype is shown in parentheses.
2 (18.2%)