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
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005730 Component Nucleolus IEA
GO:0006396 Process RNA processing IEA
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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Developmental delay Global developmental delay rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291
View all (32 more)
Leukodystrophy Leukodystrophy rs74315475, rs72466451, rs267608671, rs181087667, rs267608682, rs267608674, rs587778271, rs148932047, rs886037931, rs368905417, rs768180196, rs1558211070, rs1558209947, rs1558210191, rs1280845604
View all (6 more)
Leukoencephalopathy Leukoencephalopathy rs34757931
Leukoencephalopathy with calcifications and cysts Leukoencephalopathy with calcifications and cysts rs886039783, rs1555525654, rs201787275, rs1555526172
Associations from Text Mining
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