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PSMD12

proteasome 26S subunit, non-ATPase 12

HCNC Approved Symbol
PSMD12 (HGNC:9557)
Genomic Coordinates
17:67,337,916 - 67,366,577 (17q24.2)
Synonyms
p55, Rpn5
Disease Associations
This gene is associated with the following 1 diseases in OMIM.
View More Disease Info
Disease NameOMIM IDInheritance
Stankiewicz-Isidor syndrome
617516AD

Diagnosed Cases

0Patient

There are no patients diagnosed with a variant in the PSMD12 gene.

Frequently observed phenotypes

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

No Results