Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
105463123
Gene name Gene Name - the full gene name approved by the HGNC.
X active specific transcript
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
XACT
Synonyms (NCBI Gene) Gene synonyms aliases
-
Chromosome Chromosome number
X
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
Xq23
Summary Summary of gene provided in NCBI Entrez Gene.
This gene produces a spliced long non-coding RNA that is thought to play a role in the control of X-chromosome inactivation (XCI). This transcript has been shown to specifically coat the active X chromosome in human pluripotent cells. [provided by RefSeq,
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
300901 45056 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
Crohn Disease Poor prognosis in Crohn's disease N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
X Inactivation Familial Skewed 1 Associate 33021557