Source: BEFREE

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs201920319
rs201920319
THG1L
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy 		0.020 GeneticVariation BEFREE Previously, three siblings with early onset cerebellar dysfunction, developmental delay, pyramidal signs, and cerebellar atrophy on brain magnetic resonance imaging (MRI) were reported to carry homozygous V55A mutations in THG1L. 31168944

2019
dbSNP: rs201920319
rs201920319
THG1L
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy 		0.020 GeneticVariation BEFREE Using whole exome sequencing, we identified homozygous p.Val55Ala in the THG1L (tRNA-histidine guanylyltransferase 1 like) gene in three siblings who presented with cerebellar signs, developmental delay, dysarthria, and pyramidal signs and had cerebellar atrophy on brain MRI. 27307223

2016