Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 18 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4015505
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 18
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 18 		0.900 GeneticVariation disease UNIPROT Structural basis for integration of GluD receptors within synaptic organizer complexes. 27418511 2016
CUI: C4015505
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 18
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 18 		0.900 Biomarker disease GENOMICS_ENGLAND GRID2 mutations span from congenital to mild adult-onset cerebellar ataxia. 25841024 2015
CUI: C4015505
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 18
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 18 		0.900 Biomarker disease GENOMICS_ENGLAND GRID2 mutations span from congenital to mild adult-onset cerebellar ataxia. 25841024 2015
CUI: C4015505
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 18
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 18 		0.900 GeneticVariation disease UNIPROT GRID2 mutations span from congenital to mild adult-onset cerebellar ataxia. 25841024 2015
CUI: C4015505
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 18
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 18 		0.900 GermlineCausalMutation disease ORPHANET A homozygous deletion in GRID2 causes a human phenotype with cerebellar ataxia and atrophy. 23611888 2013
CUI: C4015505
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 18
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 18 		0.900 Biomarker disease MGD Deletions in GRID2 lead to a recessive syndrome of cerebellar ataxia and tonic upgaze in humans. 24078737 2013
CUI: C4015505
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 18
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 18 		0.900 GeneticVariation disease UNIPROT A homozygous deletion in GRID2 causes a human phenotype with cerebellar ataxia and atrophy. 23611888 2013
CUI: C4015505
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 18
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 18 		0.900 GeneticVariation disease UNIPROT Deletions in GRID2 lead to a recessive syndrome of cerebellar ataxia and tonic upgaze in humans. 24078737 2013
CUI: C4015505
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 18
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 18 		0.900 Biomarker disease GENOMICS_ENGLAND Cbln1 is a ligand for an orphan glutamate receptor delta2, a bidirectional synapse organizer. 20395510 2010
CUI: C4015505
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 18
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 18 		0.900 CausalMutation disease CLINVAR
CUI: C4015505
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 18
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 18 		0.900 GeneticVariation disease CLINVAR