Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 8 (disorder) ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1853116
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 8 (disorder)
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 8 (disorder) 		0.700 CausalMutation disease CLINVAR SYNE1 related cerebellar ataxia presents with variable phenotypes in a consanguineous family from Turkey. 28687974 2017
CUI: C1853116
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 8 (disorder)
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 8 (disorder) 		0.700 Biomarker disease GENOMICS_ENGLAND SYNE1 ataxia is a common recessive ataxia with major non-cerebellar features: a large multi-centre study. 27086870 2016
CUI: C1853116
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 8 (disorder)
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 8 (disorder) 		0.700 GeneticVariation disease CLINVAR Cerebellar ataxia with SYNE1 mutation accompanying motor neuron disease. 23325900 2013
CUI: C1853116
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 8 (disorder)
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 8 (disorder) 		0.700 Biomarker disease GENOMICS_ENGLAND Identification of pathogenic gene variants in small families with intellectually disabled siblings by exome sequencing. 24123876 2013
CUI: C1853116
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 8 (disorder)
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 8 (disorder) 		0.700 CausalMutation disease CLINVAR SYNE1 mutations in autosomal recessive cerebellar ataxia. 23959263 2013
CUI: C1853116
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 8 (disorder)
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 8 (disorder) 		0.700 GeneticVariation disease CLINVAR SYNE1 mutations in autosomal recessive cerebellar ataxia. 23959263 2013
CUI: C1853116
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 8 (disorder)
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 8 (disorder) 		0.700 GeneticVariation disease CLINVAR Mutations in SYNE1 lead to a newly discovered form of autosomal recessive cerebellar ataxia. 17159980 2007
CUI: C1853116
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 8 (disorder)
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 8 (disorder) 		0.700 GermlineCausalMutation disease ORPHANET Mutations in SYNE1 lead to a newly discovered form of autosomal recessive cerebellar ataxia. 17159980 2007
CUI: C1853116
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 8 (disorder)
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 8 (disorder) 		0.700 CausalMutation disease CLINVAR Mutations in SYNE1 lead to a newly discovered form of autosomal recessive cerebellar ataxia. 17159980 2007
CUI: C1853116
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 8 (disorder)
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 8 (disorder) 		0.700 Biomarker disease CTD_human
CUI: C1853116
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 8 (disorder)
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 8 (disorder) 		0.700 Biomarker disease GENOMICS_ENGLAND