DYNC1H1, dynein cytoplasmic 1 heavy chain 1, 1778

N. diseases: 174; N. variants: 39
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3280220
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2O
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2O 		0.900 Biomarker disease MGD A novel mouse model carrying a human cytoplasmic dynein mutation shows motor behavior deficits consistent with Charcot-Marie-Tooth type 2O disease. 29379136 2018
CUI: C3280220
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2O
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2O 		0.900 CausalMutation disease CLINVAR Expanding the phenotypic spectrum associated with mutations of DYNC1H1. 28554554 2017
CUI: C3280220
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2O
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2O 		0.900 CausalMutation disease CLINVAR Identification of a de novo DYNC1H1 mutation via WES according to published guidelines. 26846447 2016
CUI: C3280220
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2O
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2O 		0.900 GeneticVariation disease CLINVAR Application of targeted multi-gene panel testing for the diagnosis of inherited peripheral neuropathy provides a high diagnostic yield with unexpected phenotype-genotype variability. 26392352 2015
CUI: C3280220
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2O
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2O 		0.900 GeneticVariation disease CLINVAR Novel mutations in the DYNC1H1 tail domain refine the genetic and clinical spectrum of dyneinopathies. 25512093 2015
CUI: C3280220
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2O
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2O 		0.900 GeneticVariation disease UNIPROT Novel mutations in the DYNC1H1 tail domain refine the genetic and clinical spectrum of dyneinopathies. 25512093 2015
CUI: C3280220
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2O
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2O 		0.900 Biomarker disease GENOMICS_ENGLAND Application of targeted multi-gene panel testing for the diagnosis of inherited peripheral neuropathy provides a high diagnostic yield with unexpected phenotype-genotype variability. 26392352 2015
CUI: C3280220
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2O
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2O 		0.900 GeneticVariation disease UNIPROT Novel dynein DYNC1H1 neck and motor domain mutations link distal spinal muscular atrophy and abnormal cortical development. 24307404 2014
CUI: C3280220
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2O
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2O 		0.900 Biomarker disease GENOMICS_ENGLAND Mutations in the tail domain of DYNC1H1 cause dominant spinal muscular atrophy. 22459677 2012
CUI: C3280220
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2O
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2O 		0.900 GeneticVariation disease UNIPROT Exome sequencing identifies a DYNC1H1 mutation in a large pedigree with dominant axonal Charcot-Marie-Tooth disease. 21820100 2011
CUI: C3280220
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2O
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2O 		0.900 GermlineCausalMutation disease ORPHANET Exome sequencing identifies a DYNC1H1 mutation in a large pedigree with dominant axonal Charcot-Marie-Tooth disease. 21820100 2011
CUI: C3280220
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2O
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2O 		0.900 Biomarker disease CTD_human
CUI: C1834690
Disease: Spinal Muscular Atrophy, Childhood, Proximal, Autosomal Dominant
Spinal Muscular Atrophy, Childhood, Proximal, Autosomal Dominant 		0.720 GeneticVariation disease BEFREE Mutations in the Dynein Cytoplasmic 1 Heavy Chain 1 (DYNC1H1) gene were the first to be associated with SMALED. 29306600 2018
CUI: C1834690
Disease: Spinal Muscular Atrophy, Childhood, Proximal, Autosomal Dominant
Spinal Muscular Atrophy, Childhood, Proximal, Autosomal Dominant 		0.720 GeneticVariation disease UNIPROT Exome Sequencing Identifies De Novo DYNC1H1 Mutations Associated With Distal Spinal Muscular Atrophy and Malformations of Cortical Development. 28193117 2017
CUI: C1834690
Disease: Spinal Muscular Atrophy, Childhood, Proximal, Autosomal Dominant
Spinal Muscular Atrophy, Childhood, Proximal, Autosomal Dominant 		0.720 Biomarker disease GENOMICS_ENGLAND 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
CUI: C1834690
Disease: Spinal Muscular Atrophy, Childhood, Proximal, Autosomal Dominant
Spinal Muscular Atrophy, Childhood, Proximal, Autosomal Dominant 		0.720 GeneticVariation disease 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
CUI: C1834690
Disease: Spinal Muscular Atrophy, Childhood, Proximal, Autosomal Dominant
Spinal Muscular Atrophy, Childhood, Proximal, Autosomal Dominant 		0.720 GeneticVariation disease UNIPROT Identification of a de novo DYNC1H1 mutation via WES according to published guidelines. 26846447 2016
CUI: C1834690
Disease: Spinal Muscular Atrophy, Childhood, Proximal, Autosomal Dominant
Spinal Muscular Atrophy, Childhood, Proximal, Autosomal Dominant 		0.720 Biomarker disease GENOMICS_ENGLAND Application of targeted multi-gene panel testing for the diagnosis of inherited peripheral neuropathy provides a high diagnostic yield with unexpected phenotype-genotype variability. 26392352 2015
CUI: C1834690
Disease: Spinal Muscular Atrophy, Childhood, Proximal, Autosomal Dominant
Spinal Muscular Atrophy, Childhood, Proximal, Autosomal Dominant 		0.720 GeneticVariation disease UNIPROT Novel mutations in the DYNC1H1 tail domain refine the genetic and clinical spectrum of dyneinopathies. 25512093 2015
CUI: C1834690
Disease: Spinal Muscular Atrophy, Childhood, Proximal, Autosomal Dominant
Spinal Muscular Atrophy, Childhood, Proximal, Autosomal Dominant 		0.720 GeneticVariation disease UNIPROT Exome Sequencing Identifies DYNC1H1 Variant Associated With Vertebral Abnormality and Spinal Muscular Atrophy With Lower Extremity Predominance. 25484024 2015
CUI: C1834690
Disease: Spinal Muscular Atrophy, Childhood, Proximal, Autosomal Dominant
Spinal Muscular Atrophy, Childhood, Proximal, Autosomal Dominant 		0.720 CausalMutation disease CLINVAR Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly. 23603762 2013
CUI: C1834690
Disease: Spinal Muscular Atrophy, Childhood, Proximal, Autosomal Dominant
Spinal Muscular Atrophy, Childhood, Proximal, Autosomal Dominant 		0.720 GeneticVariation disease UNIPROT Mutations in the tail domain of DYNC1H1 cause dominant spinal muscular atrophy. 22459677 2012
CUI: C1834690
Disease: Spinal Muscular Atrophy, Childhood, Proximal, Autosomal Dominant
Spinal Muscular Atrophy, Childhood, Proximal, Autosomal Dominant 		0.720 GeneticVariation disease UNIPROT A DYNC1H1 mutation causes a dominant spinal muscular atrophy with lower extremity predominance. 22847149 2012
CUI: C1834690
Disease: Spinal Muscular Atrophy, Childhood, Proximal, Autosomal Dominant
Spinal Muscular Atrophy, Childhood, Proximal, Autosomal Dominant 		0.720 Biomarker disease GENOMICS_ENGLAND Mutations in the tail domain of DYNC1H1 cause dominant spinal muscular atrophy. 22459677 2012
CUI: C1834690
Disease: Spinal Muscular Atrophy, Childhood, Proximal, Autosomal Dominant
Spinal Muscular Atrophy, Childhood, Proximal, Autosomal Dominant 		0.720 GermlineCausalMutation disease ORPHANET Mutations in the tail domain of DYNC1H1 cause dominant spinal muscular atrophy. 22459677 2012