LOC110806306 (-)

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Gene Gene information from NCBI Gene database.
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Entrez ID 110806306
Gene name -
Gene symbol LOC110806306
Synonyms (NCBI Gene)
-
Chromosome 3
Chromosome location -
Summary This region represents the promoter of the telomerase RNA component gene. This promoter is stimulated by RB transcriptional corepressor 1, hypoxia, and paired box 8, and is repressed by MDM2 proto-oncogene and signaling through the mitogen-activated prote
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
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MIM HGNC e!Ensembl
N/A N/A N/A
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
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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)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Paroxysmal nocturnal hemoglobinuria 1 Pathogenic rs199422256 RCV000034302
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ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

No strongly related genes found yet for LOC110806306.

No additional diseases found yet through genes similar to LOC110806306.