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.).
28
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 Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acromegaly Acromegaly Pubtator 32171274 Stimulate
★☆☆☆☆
Found in Text Mining only
Acute Coronary Syndrome Coronary Syndrome BEFREE 19485927, 31828756
★☆☆☆☆
Found in Text Mining only
Acute Promyelocytic Leukemia Promyelocytic Leukemia BEFREE 15190260
★☆☆☆☆
Found in Text Mining only
Addison Disease Addison`s Disease HPO_DG
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma BEFREE 11059772, 11920472, 28206968, 28362707
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Of Esophagus Esophageal Cancer BEFREE 11005569, 15585388, 15958546, 17691999, 31707149
★☆☆☆☆
Found in Text Mining only
Adenoma Adenoma BEFREE 19205707
★☆☆☆☆
Found in Text Mining only
Adenoma of large intestine Colorectal adenoma BEFREE 15807932, 28362707
★☆☆☆☆
Found in Text Mining only
Adenomatous Polyposis Coli Multiple polyposis syndrome BEFREE 11685545, 31552592
★☆☆☆☆
Found in Text Mining only
Adenomatous Polyps Adenomatous Polyposis BEFREE 28362707
★☆☆☆☆
Found in Text Mining only