Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
204010
Gene name Gene Name - the full gene name approved by the HGNC.
Ribosomal protein SA pseudogene 52
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
RPSAP52
Synonyms (NCBI Gene) Gene synonyms aliases
RPSA_17_1251
Chromosome Chromosome number
12
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
12q14.3
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
HGNC N/A HGNC
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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
Astrocytoma Pilocytic astrocytoma N/A N/A GWAS
Diabetes Type 2 diabetes, Type 2 diabetes nephropathy, Type 2 diabetes with renal manifestations (PheCode 250.22), Type 2 diabetes (PheCode 250.2) N/A N/A GWAS
Glioblastoma Glioblastoma N/A N/A GWAS
Metabolic Syndrome Metabolic syndrome N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Diabetes Mellitus Type 2 Associate 26290879
Neoplasms Associate 28591699
Neoplasms Stimulate 35322746
Sarcoma Associate 35238118
Soft Tissue Injuries Associate 28591699
Squamous Cell Carcinoma of Head and Neck Associate 33787061
Stomach Neoplasms Associate 35322746