MED12 - Gene browser

MED12

mediator complex subunit 12

HCNC Approved Symbol: MED12 (HGNC:11957)
Genomic Coordinates: 23:71,118,596 - 71,142,450 (Xq13.1)
Synonyms: CAGH45, HOPA, OPA1, TRAP230, KIAA0192, OKS, ARC240, Kto, TNRC11, FGS1
Disease Associations: This gene is associated with the following 4 diseases in OMIM.

Diagnosed Cases

13Patients

In total, 13 patients were diagnosed with a variant in the MED12 gene.

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

013
Patient count

Hypertelorism: 3 (23.1%)
Patient Count: 3 (23.1%)
% of total patients presenting each phenotype is shown in parentheses.
3 (23.1%)
Intellectual disability: 3 (23.1%)
Patient Count: 3 (23.1%)
% of total patients presenting each phenotype is shown in parentheses.
3 (23.1%)
Short philtrum: 3 (23.1%)
Patient Count: 3 (23.1%)
% of total patients presenting each phenotype is shown in parentheses.
3 (23.1%)
Low set ears: 3 (23.1%)
Patient Count: 3 (23.1%)
% of total patients presenting each phenotype is shown in parentheses.
3 (23.1%)
Duane anomaly: 2 (15.4%)
Patient Count: 2 (15.4%)
% of total patients presenting each phenotype is shown in parentheses.
2 (15.4%)