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Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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220074
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Gene name
Gene Name - the full gene name approved by the HGNC.
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Leucine rich transmembrane and O-methyltransferase domain containing |
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Gene symbol
Gene Symbol - the official gene symbol approved by the HGNC.
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LRTOMT |
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Synonyms (NCBI Gene)
Gene synonyms aliases
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CFAP111, DFNB63, LRRC51, LRRC51-TOMT, TOMT |
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Chromosome
Chromosome number
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11 |
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Chromosome location
Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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11q13.4 |
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Summary
Summary of gene provided in NCBI Entrez Gene.
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This locus represents naturally occurring readthrough transcription between the neighboring LRRC51 (leucine-rich repeat containing 51) and TOMT (transmembrane O-methyltransferase) genes on chromosome 11. The readthrough transcript encodes a fusion protein |
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Unknown
Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
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| Disease merge term |
Disease name |
Evidence |
References |
Source |
| Hearing Loss |
Hearing loss, autosomal recessive |
N/A |
N/A |
ClinVar |
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Associations from Text Mining
Disease associations identified through Pubtator
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| Disease Name |
Relationship Type |
References |
| Deafness |
Associate
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34514748 |
| Deafness Autosomal Recessive |
Associate
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24926664 |
| Hearing Loss |
Associate
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28281779, 36928321 |
| Hearing Loss Sensorineural |
Associate
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31835641 |
| Nonsyndromic Deafness |
Associate
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31389194, 36928321 |
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