Source: ALL
| Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.700 | CausalMutation | disease | CLINVAR | SYNE1 related cerebellar ataxia presents with variable phenotypes in a consanguineous family from Turkey. | 28687974 | 2017 | ||||
|
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 | ||||
|
0.700 | GeneticVariation | disease | CLINVAR | Cerebellar ataxia with SYNE1 mutation accompanying motor neuron disease. | 23325900 | 2013 | ||||
|
0.700 | Biomarker | disease | GENOMICS_ENGLAND | Identification of pathogenic gene variants in small families with intellectually disabled siblings by exome sequencing. | 24123876 | 2013 | ||||
|
0.700 | CausalMutation | disease | CLINVAR | SYNE1 mutations in autosomal recessive cerebellar ataxia. | 23959263 | 2013 | ||||
|
0.700 | GeneticVariation | disease | CLINVAR | SYNE1 mutations in autosomal recessive cerebellar ataxia. | 23959263 | 2013 | ||||
|
0.700 | GeneticVariation | disease | CLINVAR | Mutations in SYNE1 lead to a newly discovered form of autosomal recessive cerebellar ataxia. | 17159980 | 2007 | ||||
|
0.700 | GermlineCausalMutation | disease | ORPHANET | Mutations in SYNE1 lead to a newly discovered form of autosomal recessive cerebellar ataxia. | 17159980 | 2007 | ||||
|
0.700 | CausalMutation | disease | CLINVAR | Mutations in SYNE1 lead to a newly discovered form of autosomal recessive cerebellar ataxia. | 17159980 | 2007 | ||||
|
0.700 | Biomarker | disease | CTD_human | |||||||
|
0.700 | Biomarker | disease | GENOMICS_ENGLAND | |||||||
|
0.100 | CausalMutation | disease | CLINVAR |