Gene Gene information from NCBI Gene database.
Entrez ID 727676
Gene name Small nucleolar RNA, C/D box 118
Gene symbol SNORD118
Synonyms (NCBI Gene)
LCCU8
Chromosome 17
Chromosome location 17p13.1
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
616663 32952 ENSG00000200463
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
44
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Leukoencephalopathy with calcifications and cysts Pathogenic; Likely pathogenic rs886039783, rs1555525654, rs1167153704, rs1977098048, rs75008470, rs746503581, rs754582308, rs757122064, rs772667974, rs754874209, rs201558321, rs757706428, rs780396107, rs752108301, rs1983820983
View all (8 more)
RCV000256193
RCV000256199
RCV001194509
RCV001194511
RCV001194475
RCV001194478
RCV001194479
RCV001194484
RCV001194486
RCV001194491
RCV001194492
RCV001194495
RCV001194496
RCV001194497
RCV001194498
RCV001194499
RCV001194500
RCV001194503
RCV001194502
RCV001194505
RCV001194507
RCV001194508
RCV001194510
RCV001194512
Associations from Text MiningDisease 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