Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Autosomal Recessive Cerebellar Ataxia Type 1
0.320 Biomarker disease BEFREE SYNE1 related autosomal recessive cerebellar ataxia type 1 (ARCA1) is a late-onset cerebellar ataxia with slow progression originally demonstrated in French-Canadian populations of Quebec, Canada. 28687974 2017
Autosomal Recessive Cerebellar Ataxia Type 1
0.320 GeneticVariation disease BEFREE Autosomal Recessive Cerebellar Ataxia type 1 mimicking multiple sclerosis: A report of two siblings with a novel mutation in SYNE1 gene in a Saudi family. 28017257 2017
Autosomal Recessive Cerebellar Ataxia Type 1
0.320 GermlineCausalMutation disease ORPHANET Mutations in SYNE1 lead to a newly discovered form of autosomal recessive cerebellar ataxia. 17159980 2007