| Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.900 | Biomarker | disease | CLINGEN | Evidence of mild founder LMOD3 mutations causing nemaline myopathy 10 in Germany and Austria. | 30291184 | 2018 | ||||
|
0.900 | Biomarker | disease | CLINGEN | Neonatal fractures as a presenting feature of LMOD3-associated congenital myopathy. | 28815944 | 2017 | ||||
|
0.900 | Biomarker | disease | MGD | Leiomodin-3-deficient mice display nemaline myopathy with fast-myofiber atrophy. | 26035871 | 2015 | ||||
|
0.900 | Biomarker | disease | CLINGEN | Severe myopathy in mice lacking the MEF2/SRF-dependent gene leiomodin-3. | 25774500 | 2015 | ||||
|
0.900 | Biomarker | disease | CLINGEN | Leiomodin-3-deficient mice display nemaline myopathy with fast-myofiber atrophy. | 26035871 | 2015 | ||||
|
0.900 | Biomarker | disease | MGD | Severe myopathy in mice lacking the MEF2/SRF-dependent gene leiomodin-3. | 25774500 | 2015 | ||||
|
0.900 | GeneticVariation | disease | UNIPROT | Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy. | 25250574 | 2014 | ||||
|
0.900 | Biomarker | disease | GENOMICS_ENGLAND | Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy. | 25250574 | 2014 | ||||
|
0.900 | Biomarker | disease | CLINGEN | KLHL40 deficiency destabilizes thin filament proteins and promotes nemaline myopathy. | 24960163 | 2014 | ||||
|
0.900 | Biomarker | disease | CLINGEN | Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy. | 25250574 | 2014 | ||||
|
0.900 | CausalMutation | disease | CLINVAR | |||||||
|
0.900 | Biomarker | disease | CTD_human | |||||||
|
0.900 | GeneticVariation | disease | CLINVAR |