DYNC1H1, dynein cytoplasmic 1 heavy chain 1, 1778

N. diseases: 174; N. variants: 39
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 13 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3281202
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 13
MENTAL RETARDATION, AUTOSOMAL DOMINANT 13 		0.700 GeneticVariation disease CLINVAR Comprehensive genomic analysis of patients with disorders of cerebral cortical development. 29706646 2018
CUI: C3281202
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 13
MENTAL RETARDATION, AUTOSOMAL DOMINANT 13 		0.700 GeneticVariation disease UNIPROT Exome Sequencing Identifies De Novo DYNC1H1 Mutations Associated With Distal Spinal Muscular Atrophy and Malformations of Cortical Development. 28193117 2017
CUI: C3281202
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 13
MENTAL RETARDATION, AUTOSOMAL DOMINANT 13 		0.700 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: C3281202
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 13
MENTAL RETARDATION, AUTOSOMAL DOMINANT 13 		0.700 CausalMutation disease CLINVAR Somatic mutations in cerebral cortical malformations. 25140959 2014
CUI: C3281202
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 13
MENTAL RETARDATION, AUTOSOMAL DOMINANT 13 		0.700 GeneticVariation disease UNIPROT Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly. 23603762 2013
CUI: C3281202
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 13
MENTAL RETARDATION, AUTOSOMAL DOMINANT 13 		0.700 CausalMutation disease CLINVAR Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly. 23603762 2013
CUI: C3281202
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 13
MENTAL RETARDATION, AUTOSOMAL DOMINANT 13 		0.700 Biomarker disease GENOMICS_ENGLAND Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly. 23603762 2013
CUI: C3281202
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 13
MENTAL RETARDATION, AUTOSOMAL DOMINANT 13 		0.700 Biomarker disease GENOMICS_ENGLAND Mutations in the tail domain of DYNC1H1 cause dominant spinal muscular atrophy. 22459677 2012
CUI: C3281202
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 13
MENTAL RETARDATION, AUTOSOMAL DOMINANT 13 		0.700 GeneticVariation disease UNIPROT Mutations in DYNC1H1 cause severe intellectual disability with neuronal migration defects. 22368300 2012
CUI: C3281202
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 13
MENTAL RETARDATION, AUTOSOMAL DOMINANT 13 		0.700 GeneticVariation disease UNIPROT Diagnostic exome sequencing in persons with severe intellectual disability. 23033978 2012
CUI: C3281202
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 13
MENTAL RETARDATION, AUTOSOMAL DOMINANT 13 		0.700 GeneticVariation disease UNIPROT A de novo paradigm for mental retardation. 21076407 2010
CUI: C3281202
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 13
MENTAL RETARDATION, AUTOSOMAL DOMINANT 13 		0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C3281202
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 13
MENTAL RETARDATION, AUTOSOMAL DOMINANT 13 		0.700 Biomarker disease CTD_human