| Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.460 | GeneticVariation | disease | BEFREE | This observation supports the hypothesis of a pathogenic link between autosomal dominant SCT and heterozygous mutations in MYH3. | 30228365 | 2018 | ||||
|
0.460 | GeneticVariation | disease | BEFREE | Recessive Spondylocarpotarsal Synostosis Syndrome Due to Compound Heterozygosity for Variants in MYH3. | 29805041 | 2018 | ||||
|
0.460 | GeneticVariation | disease | BEFREE | MYH3 plays a pivotal role in fetal muscle development and mutations in this gene are associated with Freeman-Sheldon syndrome, distal arthrogryposis 8 (DA8), and autosomal dominant spondylocarpotarsal synostosis. | 29314551 | 2018 | ||||
|
0.460 | GeneticVariation | disease | BEFREE | Mutations in filamin B (FLNB) and MYH3 have been reported for autosomal-recessive and autosomal-dominant SCT, respectively. | 28145000 | 2017 | ||||
|
0.460 | GeneticVariation | disease | BEFREE | Our findings demonstrate that dominant mutations in MYH3 underlie autosomal dominant SCT, identify a postnatal role for embryonic myosin and suggest that altered regulation of signal transduction in the muscles within the spine may lead to the development of vertebral fusions. | 28205584 | 2017 | ||||
|
0.460 | GermlineCausalMutation | disease | ORPHANET | As MYH3 variants are also associated with distal arthrogryposis (DA1, DA2A, DA2B) and autosomal dominant multiple pterygium syndromes (MPS), the present study expands the phenotypic spectrum of MYH3 variants to autosomal dominant SCT. | 27381093 | 2016 | ||||
|
0.460 | GeneticVariation | disease | BEFREE | As MYH3 variants are also associated with distal arthrogryposis (DA1, DA2A, DA2B) and autosomal dominant multiple pterygium syndromes (MPS), the present study expands the phenotypic spectrum of MYH3 variants to autosomal dominant SCT. | 27381093 | 2016 | ||||
|
0.460 | CausalMutation | disease | CLINVAR | |||||||
|
0.460 | GeneticVariation | disease | CLINVAR |