DYNC1H1, dynein cytoplasmic 1 heavy chain 1, 1778

N. diseases: 174; N. variants: 39
Disease: Arthrogryposis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis 		0.320 Biomarker disease GENOMICS_ENGLAND Expanding the phenotypic spectrum associated with mutations of DYNC1H1. 28554554 2017
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis 		0.320 GeneticVariation disease BEFREE Our results broaden the phenotypes associated with BICD2 mutations to include AMC and cortical malformations and therefore to a similar phenotypic spectrum to that associated with its binding partner DYNC1H1. 27751653 2016
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis 		0.320 Biomarker disease BEFREE Our report expands the clinical spectrum of DYNC1H1-related SMA-LED to include generalized arthrogryposis. 25609763 2015