MAP2K1 - Gene browser

MAP2K1

mitogen-activated protein kinase kinase 1

HCNC Approved Symbol: MAP2K1 (HGNC:6840)
Genomic Coordinates: 15:66,386,912 - 66,491,544 (15q22.31)
Synonyms: MEK1, MAPKK1, MKK1, PRKMK1
Disease Associations: This gene is associated with the following 2 diseases in OMIM.

14Patients

In total, 14 patients were diagnosed with a variant in the MAP2K1 gene.

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

014
Patient count

Hypertelorism: 4 (28.6%)
Patient Count: 4 (28.6%)
% of total patients presenting each phenotype is shown in parentheses.
4 (28.6%)
Low set ears: 4 (28.6%)
Patient Count: 4 (28.6%)
% of total patients presenting each phenotype is shown in parentheses.
4 (28.6%)
Flat feet: 3 (21.4%)
Patient Count: 3 (21.4%)
% of total patients presenting each phenotype is shown in parentheses.
3 (21.4%)
Hypotonia: 3 (21.4%)
Patient Count: 3 (21.4%)
% of total patients presenting each phenotype is shown in parentheses.
3 (21.4%)
Numerous moles: 3 (21.4%)
Patient Count: 3 (21.4%)
% of total patients presenting each phenotype is shown in parentheses.
3 (21.4%)