SNORD118
Chr 17p13.1small nucleolar RNA, C/D box 118
- Aliases:
- U8
- MANE:
- ENST00000363593.2
Annotations refreshed 10 hours ago.
Predicted protein structure
No predicted 3D structure for SNORD118. Non-coding genes and pseudogenes typically have no protein product.
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
Adult onset leukodystrophy
BIALLELIC, autosomal or pseudoautosomalChildhood onset dystonia, chorea or related movement disorder
BIALLELIC, autosomal or pseudoautosomalDDG2P
BIALLELIC, autosomal or pseudoautosomalEarly onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalFetal anomalies
BIALLELIC, autosomal or pseudoautosomalInherited white matter disorders
BIALLELIC, autosomal or pseudoautosomalIntellectual disability
BIALLELIC, autosomal or pseudoautosomalWhite matter disorders and cerebral calcification - narrow panel
BIALLELIC, autosomal or pseudoautosomal
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Disease associations (Open Targets)
leukoencephalopathy with calcifications and cysts
0.70leukemia
0.04craniosynostosis
0.03acute myeloid leukemia
0.03Leukoencephalopathy
0.01small cell lung carcinoma
0.01breast carcinoma
0.01breast cancer
0.01atrial fibrillation
0.01neoplasm
0.00
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.