DYNC1H1, dynein cytoplasmic 1 heavy chain 1, 1778

N. diseases: 174; N. variants: 39
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 13 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397509412
rs397509412
Entrez Id: 1778
Gene Symbol: DYNC1H1
DYNC1H1
CUI: C3281202
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 13 		0.800 GeneticVariation UNIPROT Exome Sequencing Identifies De Novo DYNC1H1 Mutations Associated With Distal Spinal Muscular Atrophy and Malformations of Cortical Development. 28193117 2017
dbSNP: rs397509412
rs397509412
Entrez Id: 1778
Gene Symbol: DYNC1H1
DYNC1H1
CUI: C3281202
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 13 		0.800 GeneticVariation UNIPROT Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly. 23603762 2013
dbSNP: rs397509412
rs397509412
Entrez Id: 1778
Gene Symbol: DYNC1H1
DYNC1H1
CUI: C3281202
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 13 		0.800 GeneticVariation UNIPROT Diagnostic exome sequencing in persons with severe intellectual disability. 23033978 2012
dbSNP: rs397509412
rs397509412
Entrez Id: 1778
Gene Symbol: DYNC1H1
DYNC1H1
CUI: C3281202
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 13 		0.800 GeneticVariation UNIPROT Mutations in DYNC1H1 cause severe intellectual disability with neuronal migration defects. 22368300 2012
dbSNP: rs397509412
rs397509412
Entrez Id: 1778
Gene Symbol: DYNC1H1
DYNC1H1
CUI: C3281202
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 13 		0.800 GeneticVariation UNIPROT A de novo paradigm for mental retardation. 21076407 2010
dbSNP: rs397509412
rs397509412
Entrez Id: 1778
Gene Symbol: DYNC1H1
DYNC1H1
CUI: C3281202
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 13 		A 0.800 CausalMutation CLINVAR