Gene Gene information from NCBI Gene database.
Entrez ID 8923187
Gene name -
Gene symbol COX3
Synonyms (NCBI Gene)
-
Chromosome MT
Chromosome location -
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.).
19
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
AUTOSOMAL DOMINANT SPASTIC ATAXIA Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CEREBELLAR ATAXIA Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CLEFT PALATE AND BILATERAL CLEFT LIP Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DEVELOPMENTAL DELAY Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Breast Neoplasms Associate 36758048, 37510369
★☆☆☆☆
Found in Text Mining only
Cataract Associate 18587274
★☆☆☆☆
Found in Text Mining only
Congenital Hereditary and Neonatal Diseases and Abnormalities Associate 14585098
★☆☆☆☆
Found in Text Mining only
Cytochrome c Oxidase Deficiency Associate 32317297
★☆☆☆☆
Found in Text Mining only
Endometrial Neoplasms Associate 28819937
★☆☆☆☆
Found in Text Mining only
Epilepsy Associate 37095367
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Essential Hypertension Associate 28641368
★☆☆☆☆
Found in Text Mining only
Glomerulonephritis IGA Associate 31690796
★☆☆☆☆
Found in Text Mining only
Gout Associate 29976239
★☆☆☆☆
Found in Text Mining only
Hereditary Breast and Ovarian Cancer Syndrome Associate 36758048
★☆☆☆☆
Found in Text Mining only