PMVK - Gene browser | 3billion

PMVK

PMVK

phosphomevalonate kinase

HCNC Approved Symbol: PMVK (HGNC:9141)
Genomic Coordinates: 1:154,924,740 - 154,942,658 (1q21.3)
Synonyms: PMK, PMKA, HUMPMKI
Disease Associations: This gene is associated with the following 1 diseases in OMIM.

Diagnosed Cases

3Patients

In total, 3 patients were diagnosed with a variant in the PMVK gene.

Frequently observed phenotypes(Top 5 only)

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

03
Patient count

Porokeratosis: 3 (100.0%)
Patient Count: 3 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
3 (100.0%)

Last updated: 2024-06-30

PMVK - Gene browser | 3billion