LMOD3, leiomodin 3, 56203

N. diseases: 67; N. variants: 8
Disease: NEMALINE MYOPATHY 10 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4015360
Disease: NEMALINE MYOPATHY 10
NEMALINE MYOPATHY 10 		0.900 Biomarker disease CLINGEN Evidence of mild founder LMOD3 mutations causing nemaline myopathy 10 in Germany and Austria. 30291184 2018
CUI: C4015360
Disease: NEMALINE MYOPATHY 10
NEMALINE MYOPATHY 10 		0.900 Biomarker disease CLINGEN Neonatal fractures as a presenting feature of LMOD3-associated congenital myopathy. 28815944 2017
CUI: C4015360
Disease: NEMALINE MYOPATHY 10
NEMALINE MYOPATHY 10 		0.900 Biomarker disease MGD Leiomodin-3-deficient mice display nemaline myopathy with fast-myofiber atrophy. 26035871 2015
CUI: C4015360
Disease: NEMALINE MYOPATHY 10
NEMALINE MYOPATHY 10 		0.900 Biomarker disease CLINGEN Severe myopathy in mice lacking the MEF2/SRF-dependent gene leiomodin-3. 25774500 2015
CUI: C4015360
Disease: NEMALINE MYOPATHY 10
NEMALINE MYOPATHY 10 		0.900 Biomarker disease CLINGEN Leiomodin-3-deficient mice display nemaline myopathy with fast-myofiber atrophy. 26035871 2015
CUI: C4015360
Disease: NEMALINE MYOPATHY 10
NEMALINE MYOPATHY 10 		0.900 Biomarker disease MGD Severe myopathy in mice lacking the MEF2/SRF-dependent gene leiomodin-3. 25774500 2015
CUI: C4015360
Disease: NEMALINE MYOPATHY 10
NEMALINE MYOPATHY 10 		0.900 GeneticVariation disease UNIPROT Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy. 25250574 2014
CUI: C4015360
Disease: NEMALINE MYOPATHY 10
NEMALINE MYOPATHY 10 		0.900 Biomarker disease GENOMICS_ENGLAND Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy. 25250574 2014
CUI: C4015360
Disease: NEMALINE MYOPATHY 10
NEMALINE MYOPATHY 10 		0.900 Biomarker disease CLINGEN KLHL40 deficiency destabilizes thin filament proteins and promotes nemaline myopathy. 24960163 2014
CUI: C4015360
Disease: NEMALINE MYOPATHY 10
NEMALINE MYOPATHY 10 		0.900 Biomarker disease CLINGEN Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy. 25250574 2014
CUI: C4015360
Disease: NEMALINE MYOPATHY 10
NEMALINE MYOPATHY 10 		0.900 CausalMutation disease CLINVAR
CUI: C4015360
Disease: NEMALINE MYOPATHY 10
NEMALINE MYOPATHY 10 		0.900 Biomarker disease CTD_human
CUI: C4015360
Disease: NEMALINE MYOPATHY 10
NEMALINE MYOPATHY 10 		0.900 GeneticVariation disease CLINVAR