Source: ALL
Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
---|---|---|---|---|---|---|---|---|---|---|---|
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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 | ||||
|
0.900 | CausalMutation | disease | CLINVAR | Expanding the phenotypic spectrum associated with mutations of DYNC1H1. | 28554554 | 2017 | ||||
|
0.900 | CausalMutation | disease | CLINVAR | Identification of a de novo DYNC1H1 mutation via WES according to published guidelines. | 26846447 | 2016 | ||||
|
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 | ||||
|
0.900 | GeneticVariation | disease | CLINVAR | Novel mutations in the DYNC1H1 tail domain refine the genetic and clinical spectrum of dyneinopathies. | 25512093 | 2015 | ||||
|
0.900 | GeneticVariation | disease | UNIPROT | Novel mutations in the DYNC1H1 tail domain refine the genetic and clinical spectrum of dyneinopathies. | 25512093 | 2015 | ||||
|
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 | ||||
|
0.900 | GeneticVariation | disease | UNIPROT | Novel dynein DYNC1H1 neck and motor domain mutations link distal spinal muscular atrophy and abnormal cortical development. | 24307404 | 2014 | ||||
|
0.900 | Biomarker | disease | GENOMICS_ENGLAND | Mutations in the tail domain of DYNC1H1 cause dominant spinal muscular atrophy. | 22459677 | 2012 | ||||
|
0.900 | GeneticVariation | disease | UNIPROT | Exome sequencing identifies a DYNC1H1 mutation in a large pedigree with dominant axonal Charcot-Marie-Tooth disease. | 21820100 | 2011 | ||||
|
0.900 | GermlineCausalMutation | disease | ORPHANET | Exome sequencing identifies a DYNC1H1 mutation in a large pedigree with dominant axonal Charcot-Marie-Tooth disease. | 21820100 | 2011 | ||||
|
0.900 | Biomarker | disease | CTD_human |