LMOD3, leiomodin 3, 56203

N. diseases: 67; N. variants: 8
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
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis 		0.100 Biomarker disease HPO
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		0.100 Biomarker disease HPO
CUI: C0006157
Disease: Breech Presentation
Breech Presentation 		0.100 Biomarker phenotype HPO
CUI: C0011168
Disease: Deglutition Disorders
Deglutition Disorders 		0.100 Biomarker group HPO
CUI: C0015469
Disease: Facial paralysis
Facial paralysis 		0.100 Biomarker disease HPO
CUI: C0016842
Disease: Congenital pectus excavatum
Congenital pectus excavatum 		0.100 Biomarker disease HPO
CUI: C0020224
Disease: Polyhydramnios
Polyhydramnios 		0.100 Biomarker phenotype HPO
CUI: C0022821
Disease: Kyphosis deformity of spine
Kyphosis deformity of spine 		0.100 Biomarker phenotype HPO
CUI: C0024003
Disease: Lordosis
Lordosis 		0.100 Biomarker phenotype HPO
CUI: C0025990
Disease: Micrognathism
Micrognathism 		0.100 Biomarker disease HPO
CUI: C0026848
Disease: Myopathy
Myopathy 		0.100 Biomarker group HPO
CUI: C0029089
Disease: Ophthalmoplegia
Ophthalmoplegia 		0.100 Biomarker phenotype HPO