Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 54974
Gene Symbol: THG1L
THG1L
0.010 GeneticVariation disease BEFREE Refining the phenotype of the THG1L (p.Val55Ala mutation)-related mitochondrial autosomal recessive congenital cerebellar ataxia. 31168944 2019