Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
101927697
Gene name Gene Name - the full gene name approved by the HGNC.
Long intergenic non-protein coding RNA 2227
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
LINC02227
Synonyms (NCBI Gene) Gene synonyms aliases
-
Chromosome Chromosome number
5
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
5q33.3
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
Diabetes Type 2 diabetes (adjusted for BMI), Type 2 diabetes N/A N/A GWAS
Endometriosis Endometriosis N/A N/A GWAS
Hypertension Hypertension (PheCode 401), Essential hypertension (PheCode 401.1), High blood pressure / hypertension, Hypertension, Hypertension (confirmatory factor analysis Factor 12) N/A N/A GWAS
Hypospadias Hypospadias N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Coronary Disease Associate 27707806
Heart Failure Associate 28100865
Hypertension Associate 28100865
Myocardial Infarction Associate 28100865