Gene: DYNC1H1 ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1778
Gene Symbol: DYNC1H1
DYNC1H1 		0.700 GeneticVariation disease CLINVAR Comprehensive genomic analysis of patients with disorders of cerebral cortical development. 29706646 2018
Entrez Id: 1778
Gene Symbol: DYNC1H1
DYNC1H1 		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
Entrez Id: 1778
Gene Symbol: DYNC1H1
DYNC1H1 		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
Entrez Id: 1778
Gene Symbol: DYNC1H1
DYNC1H1 		0.700 CausalMutation disease CLINVAR Somatic mutations in cerebral cortical malformations. 25140959 2014
Entrez Id: 1778
Gene Symbol: DYNC1H1
DYNC1H1 		0.700 GeneticVariation disease UNIPROT Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly. 23603762 2013
Entrez Id: 1778
Gene Symbol: DYNC1H1
DYNC1H1 		0.700 CausalMutation disease CLINVAR Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly. 23603762 2013
Entrez Id: 1778
Gene Symbol: DYNC1H1
DYNC1H1 		0.700 Biomarker disease GENOMICS_ENGLAND Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly. 23603762 2013
Entrez Id: 1778
Gene Symbol: DYNC1H1
DYNC1H1 		0.700 Biomarker disease GENOMICS_ENGLAND Mutations in the tail domain of DYNC1H1 cause dominant spinal muscular atrophy. 22459677 2012
Entrez Id: 1778
Gene Symbol: DYNC1H1
DYNC1H1 		0.700 GeneticVariation disease UNIPROT Mutations in DYNC1H1 cause severe intellectual disability with neuronal migration defects. 22368300 2012
Entrez Id: 1778
Gene Symbol: DYNC1H1
DYNC1H1 		0.700 GeneticVariation disease UNIPROT Diagnostic exome sequencing in persons with severe intellectual disability. 23033978 2012
Entrez Id: 1778
Gene Symbol: DYNC1H1
DYNC1H1 		0.700 GeneticVariation disease UNIPROT A de novo paradigm for mental retardation. 21076407 2010
Entrez Id: 1778
Gene Symbol: DYNC1H1
DYNC1H1 		0.700 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 1778
Gene Symbol: DYNC1H1
DYNC1H1 		0.700 Biomarker disease CTD_human