rs587780564, DYNC1H1

N. diseases: 5
Disease: Spinal Muscular Atrophy, Childhood, Proximal, Autosomal Dominant ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Spinal Muscular Atrophy, Childhood, Proximal, Autosomal Dominant
CUI: C1834690
Disease: Spinal Muscular Atrophy, Childhood, Proximal, Autosomal Dominant
0.810 GeneticVariation UNIPROT Exome Sequencing Identifies De Novo DYNC1H1 Mutations Associated With Distal Spinal Muscular Atrophy and Malformations of Cortical Development. 28193117 2017
Spinal Muscular Atrophy, Childhood, Proximal, Autosomal Dominant
CUI: C1834690
Disease: Spinal Muscular Atrophy, Childhood, Proximal, Autosomal Dominant
0.810 GeneticVariation BEFREE Using SNP array, linkage analysis and next generation sequencing, we identified two families and one isolated proband sharing a known spinal muscular atrophy, lower extremity predominant (SMALED) causing mutation DYNC1H1 c.1792C>T, p.Arg598Cys, and another family harbouring a c.2327C>T, p.Pro776Leu mutation. 28554554 2017
Spinal Muscular Atrophy, Childhood, Proximal, Autosomal Dominant
CUI: C1834690
Disease: Spinal Muscular Atrophy, Childhood, Proximal, Autosomal Dominant
0.810 GeneticVariation UNIPROT Identification of a de novo DYNC1H1 mutation via WES according to published guidelines. 26846447 2016
Spinal Muscular Atrophy, Childhood, Proximal, Autosomal Dominant
CUI: C1834690
Disease: Spinal Muscular Atrophy, Childhood, Proximal, Autosomal Dominant
0.810 GeneticVariation UNIPROT Exome Sequencing Identifies DYNC1H1 Variant Associated With Vertebral Abnormality and Spinal Muscular Atrophy With Lower Extremity Predominance. 25484024 2015
Spinal Muscular Atrophy, Childhood, Proximal, Autosomal Dominant
CUI: C1834690
Disease: Spinal Muscular Atrophy, Childhood, Proximal, Autosomal Dominant
0.810 GeneticVariation UNIPROT Novel mutations in the DYNC1H1 tail domain refine the genetic and clinical spectrum of dyneinopathies. 25512093 2015
Spinal Muscular Atrophy, Childhood, Proximal, Autosomal Dominant
CUI: C1834690
Disease: Spinal Muscular Atrophy, Childhood, Proximal, Autosomal Dominant
0.810 GeneticVariation UNIPROT A DYNC1H1 mutation causes a dominant spinal muscular atrophy with lower extremity predominance. 22847149 2012
Spinal Muscular Atrophy, Childhood, Proximal, Autosomal Dominant
CUI: C1834690
Disease: Spinal Muscular Atrophy, Childhood, Proximal, Autosomal Dominant
0.810 GeneticVariation UNIPROT Mutations in the tail domain of DYNC1H1 cause dominant spinal muscular atrophy. 22459677 2012
Spinal Muscular Atrophy, Childhood, Proximal, Autosomal Dominant
CUI: C1834690
Disease: Spinal Muscular Atrophy, Childhood, Proximal, Autosomal Dominant
0.810 CausalMutation CLINVAR
Spinal Muscular Atrophy, Childhood, Proximal, Autosomal Dominant
CUI: C1834690
Disease: Spinal Muscular Atrophy, Childhood, Proximal, Autosomal Dominant
0.810 GeneticVariation CLINVAR