Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
100132594
Gene name Gene Name - the full gene name approved by the HGNC.
Phosphoglycerate mutase 1 pseudogene 5
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
PGAM1P5
Synonyms (NCBI Gene) Gene synonyms aliases
-
Chromosome Chromosome number
12
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
12q22
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
HGNC N/A HGNC
<
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
Alzheimer disease Alzheimer's disease or family history of Alzheimer's disease N/A N/A GWAS
Breast Cancer Postmenopausal breast cancer, BRCA1/2-negative high-risk breast cancer N/A N/A GWAS
Breast cancer Breast cancer, Breast cancer (estrogen-receptor negative) N/A N/A GWAS
Colorectal Cancer Colorectal cancer N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Colorectal Neoplasms Associate 31826910
Heart Failure Associate 34572079
Spastic Paraplegia Hereditary Associate 36344993