NFE2L2 - Gene browser | 3billion

NFE2L2

NFE2L2

NFE2 like bZIP transcription factor 2

HCNC Approved Symbol: NFE2L2 (HGNC:7782)
Genomic Coordinates: 2:177,230,303 - 177,264,727 (2q31.2)
Synonyms: NRF2, NRF-2
Disease Associations: This gene is associated with the following 1 diseases in OMIM.

Diagnosed Cases

1Patient

In total, 1 patient was diagnosed with a variant in the NFE2L2 gene.

Frequently observed phenotypes(Top 5 only)

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

01
Patient count

Dysphagia: 1 (100.0%)
Patient Count: 1 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (100.0%)
Growth delay: 1 (100.0%)
Patient Count: 1 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (100.0%)
Intellectual disability: 1 (100.0%)
Patient Count: 1 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (100.0%)
Pulmonary artery stenosis: 1 (100.0%)
Patient Count: 1 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (100.0%)

Last updated: 2024-06-30

NFE2L2 - Gene browser | 3billion