Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
727676
Gene name Gene Name - the full gene name approved by the HGNC.
Small nucleolar RNA, C/D box 118
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
SNORD118
Synonyms (NCBI Gene) Gene synonyms aliases
LCC, U8
Chromosome Chromosome number
17
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
17p13.1
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
616663 32952 ENSG00000200463
<
Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Leukoencephalopathy With Calcifications And Cysts leukoencephalopathy with calcifications and cysts rs886039783, rs1555525654 N/A
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Baraitser Brett Piesowicz syndrome Associate 32400930
Calcinosis Associate 34986804
Carcinoma Hepatocellular Associate 34986804
Cerebral Small Vessel Diseases Associate 27571260
Cysts Associate 34986804
Leukoencephalopathies Associate 32400930, 34986804
Leukoencephalopathy Brain Calcifications and Cysts Associate 27571260, 32400930, 34986804