Gene Gene information from NCBI Gene database.
Entrez ID 8923218
Gene name -
Gene symbol COX1
Synonyms (NCBI Gene)
-
Chromosome MT
Chromosome location -
Transcription factors Transcription factors information provided by TRRUST V2 database.
4
Transcription factor Regulation Reference
MLL4 Unknown 19570036
NFKB1 Unknown 19570036
NR3C1 Unknown 19570036
RELA Unknown 19570036
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
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.).
26
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)
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
BECKWITH-WIEDEMANN SYNDROME HPO
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BETA-THALASSEMIA HPO
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CARCINOMA CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHIES CTD, Disgenet
CTD, Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Acrocephalosyndactylia Associate 31821324
★☆☆☆☆
Found in Text Mining only
Acromegaly Stimulate 32171274
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Associate 11005569, 11920472
★☆☆☆☆
Found in Text Mining only
Adenoma Associate 23778325
★☆☆☆☆
Found in Text Mining only
Adenoma Pleomorphic Associate 22507323
★☆☆☆☆
Found in Text Mining only
Adenomatous Polyposis Coli Associate 23599153
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Associate 30040709
★☆☆☆☆
Found in Text Mining only
Angina Unstable Inhibit 12871422
★☆☆☆☆
Found in Text Mining only
Arthritis Associate 26225917
★☆☆☆☆
Found in Text Mining only
Arthritis Rheumatoid Associate 10719816
★☆☆☆☆
Found in Text Mining only