DYNC1H1, dynein cytoplasmic 1 heavy chain 1, 1778

N. diseases: 174; N. variants: 39
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2O ×
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