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EMG1

EMG1 N1-specific pseudouridine methyltransferase

HCNC Approved Symbol
EMG1 (HGNC:16912)
Genomic Coordinates
12:6,970,913 - 6,997,428 (12p13.31)
Synonyms
C2F, NEP1, Grcc2f
Disease Associations
This gene is associated with the following 1 diseases in OMIM.
View More Disease Info
Disease NameOMIM IDInheritance
Bowen-Conradi syndrome
211180AR

Diagnosed Cases

0Patient

There are no patients diagnosed with a variant in the EMG1 gene.

Frequently observed phenotypes

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

No Results