Gene Gene information from NCBI Gene database.
Entrez ID 6775077
Gene name -
Gene symbol ATP8
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.).
14
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
BICUSPID AORTIC VALVE Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, INFANTILE HYPERTROPHIC 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
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Adenoma Associate 23747897
★☆☆☆☆
Found in Text Mining only
Adenoma Villous Associate 20929553
★☆☆☆☆
Found in Text Mining only
Adenomatous Polyps Associate 20929553
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Associate 25110199
★☆☆☆☆
Found in Text Mining only
Charcot Marie Tooth Disease Associate 22933740
★☆☆☆☆
Found in Text Mining only
Diabetes Mellitus Type 2 Associate 29208909
★☆☆☆☆
Found in Text Mining only
Diarrhea Associate 23840124
★☆☆☆☆
Found in Text Mining only
Distal Hereditary Motor Neuropathy Type II Associate 22933740
★☆☆☆☆
Found in Text Mining only
Essential Hypertension Associate 30326913
★☆☆☆☆
Found in Text Mining only
Glaucoma 3 Primary Congenital A Associate 23401651
★☆☆☆☆
Found in Text Mining only