PPIEL (peptidylprolyl isomerase E like (pseudogene))

Gene
Gene Other IDs Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
728448
Gene name Gene Name - the full gene name approved by the HGNC.
Peptidylprolyl isomerase E like (pseudogene)
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
PPIEL
Synonyms (NCBI Gene) Gene synonyms aliases
PPIEP1
Chromosome Chromosome number
1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1p34.3
Summary Summary of gene provided in NCBI Entrez Gene.
This transcribed pseudogene is related to PPIE (Gene ID: 10450). Expression of this pseudogene may be downregulated in non-small cell lung cancer (NSCLC). Differential DNA methylation of this locus may be associated with intellectual disability and bipola
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene Other IDs Associated diseases
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)
Gene Other IDs Associated diseases
Show/Hide Unknown Diseases (3)
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 N/A N/A GWAS
Metabolic Syndrome Metabolic syndrome N/A N/A GWAS
Show/Hide Text Mining Associations (4)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Beckwith Wiedemann Syndrome Associate 37594968
Bipolar Disorder Associate 24501229, 29565503
Pseudohypoparathyroidism Type 1B Associate 24501229
Silver Russell Syndrome Associate 24501229