TOMT (transmembrane O-methyltransferase)

Gene Gene information from NCBI Gene database.
Gene Other IDs Associated diseases
Entrez ID 120356740
Gene name Transmembrane O-methyltransferase
Gene symbol TOMT
Synonyms (NCBI Gene)
COMT2
Chromosome 11
Chromosome location 11q13.4
Summary This gene encodes a catechol-O-methyltransferase that catalyzes the transfer of a methyl group from S-adenosyl-L-methionine to a hydroxyl group of catechols and is essential for auditory and vestibular function. Mutations in this gene have been associated
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene Other IDs Associated diseases
MIM HGNC e!Ensembl
HGNC N/A HGNC
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
3
Gene Other IDs Associated diseases
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Show/Hide Unknown Diseases (3)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
DEAFNESS, AUTOSOMAL RECESSIVE — Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DEAFNESS, AUTOSOMAL RECESSIVE 63 — Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
HEARING IMPAIRMENT — Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations