Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
172
Gene name Gene Name - the full gene name approved by the HGNC.
AFG3 like matrix AAA peptidase subunit 1, pseudogene
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
AFG3L1P
Synonyms (NCBI Gene) Gene synonyms aliases
AFG3, AFG3L1
Chromosome Chromosome number
16
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
16q24.3
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
603020 314 ENSG00000293510
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Carcinoma Basal cell carcinoma N/A N/A GWAS
Glioblastoma Glioblastoma N/A N/A GWAS
Melanoma Melanoma N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Melanoma Associate 34724200