SNORD118 - small nucleolar RNA, C/D box 118 Gene

Homo sapiens

Also known as U8; LCC

Gene ID: 727676 | Gene type: snoRNA

About SNORD118

Cytogenetic location: 17p13.1 Genomic coordinates (GRCh38): 17:8,173,452-8,173,588 (from NCBI)

This gene has 1 transcript (splice variant), 99 orthologues, 22 paralogues and is associated with 3 phenotypes.

Diseases

Alias

Leukoencephalopathy, Brain Calcifications, And Cysts

Leukoencephalopathy With Calcifications And Cysts	LCC
Labrune Syndrome

Combined Oxidative Phosphorylation Deficiency 12

COXPD12	Ltbl
Leukoencephalopathy With Thalamus And Brainstem Involvement And High Lactate	Leukoencephalopathy-Thalamus And Brainstem Anomalies-High Lactate Syndrome
Combined Oxidative Phosphorylation Defect Type 12	Combined Oxidative Phosphorylation Deficiency, Type 12

Burn-Mckeown Syndrome

Choanal Atresia-Hearing Loss-Cardiac Defects-Craniofacial Dysmorphism Syndrome	Oculootofacial Dysplasia
BMKS	Oofd
Bilateral Choanal Atresia, Cardiac Defects, Deafness, And Dysmorphic Appearance	Choanal Atresia - Deafness - Cardiac Defects - Dysmorphism Syndrome
Choanal Atresia Deafness Cardiac Defects Dysmorphism	Oculo-Oto-Facial Dysplasia

Coats Disease

Exudative Retinopathy	Retinal Telangiectasis
Coats' Disease	Leber Miliary Aneurysm
Coats' Syndrome	Congenital Retinal Telangiectasia

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Species	Symbol	Source	ID
Rattus norvegicus	SNORD118	RGD	RGD:41278287

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