NSD1 - Gene browser

NSD1

nuclear receptor binding SET domain protein 1

HCNC Approved Symbol: NSD1 (HGNC:14234)
Genomic Coordinates: 5:177,131,798 - 177,300,213 (5q35.3)
Synonyms: ARA267, FLJ22263, KMT3B, STO
Disease Associations: This gene is associated with the following 1 diseases in OMIM.

40Patients

In total, 40 patients were diagnosed with a variant in the NSD1 gene.

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

040
Patient count

Macrocephaly: 15 (37.5%)
Patient Count: 15 (37.5%)
% of total patients presenting each phenotype is shown in parentheses.
15 (37.5%)
Overgrowth: 9 (22.5%)
Patient Count: 9 (22.5%)
% of total patients presenting each phenotype is shown in parentheses.
9 (22.5%)
Tall stature: 8 (20.0%)
Patient Count: 8 (20.0%)
% of total patients presenting each phenotype is shown in parentheses.
8 (20.0%)
Frontal bossing: 7 (17.5%)
Patient Count: 7 (17.5%)
% of total patients presenting each phenotype is shown in parentheses.
7 (17.5%)
Downslanted palpebral fissures: 6 (15.0%)
Patient Count: 6 (15.0%)
% of total patients presenting each phenotype is shown in parentheses.
6 (15.0%)