Source: MGD

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic 		1.000 Biomarker MGD Loss of A-type lamin expression compromises nuclear envelope integrity leading to muscular dystrophy. 10579712

1999
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic 		1.000 Biomarker MGD Abnormal p38α mitogen-activated protein kinase signaling in dilated cardiomyopathy caused by lamin A/C gene mutation. 22773734

2012
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic 		1.000 Biomarker MGD LMNA mutations cause DCM with conduction and/or rhythm defects. 23575224

2013
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic 		1.000 Biomarker MGD Mouse model carrying H222P-Lmna mutation develops muscular dystrophy and dilated cardiomyopathy similar to human striated muscle laminopathies. 15548545

2005
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic 		1.000 Biomarker MGD Expression of an LMNA-N195K variant of A-type lamins results in cardiac conduction defects and death in mice. 15972724

2005
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic 		1.000 Biomarker MGD Homozygous defects in LMNA, encoding lamin A/C nuclear-envelope proteins, cause autosomal recessive axonal neuropathy in human (Charcot-Marie-Tooth disorder type 2) and mouse. 11799477

2002
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
CUI: C0751951
Disease: Central Core Myopathy (disorder)
Central Core Myopathy (disorder) 		0.220 Biomarker MGD DelK32-lamin A/C has abnormal location and induces incomplete tissue maturation and severe metabolic defects leading to premature death. 22090424

2012
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		0.400 Biomarker MGD Loss of A-type lamin expression compromises nuclear envelope integrity leading to muscular dystrophy. 10579712

1999
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		0.400 Biomarker MGD Homozygous defects in LMNA, encoding lamin A/C nuclear-envelope proteins, cause autosomal recessive axonal neuropathy in human (Charcot-Marie-Tooth disorder type 2) and mouse. 11799477

2002
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
CUI: C1854154
Disease: Charcot-Marie-Tooth disease, Type 2B1
Charcot-Marie-Tooth disease, Type 2B1 		0.900 Biomarker MGD Homozygous defects in LMNA, encoding lamin A/C nuclear-envelope proteins, cause autosomal recessive axonal neuropathy in human (Charcot-Marie-Tooth disorder type 2) and mouse. 11799477

2002
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
CUI: C1854154
Disease: Charcot-Marie-Tooth disease, Type 2B1
Charcot-Marie-Tooth disease, Type 2B1 		0.900 Biomarker MGD Loss of A-type lamin expression compromises nuclear envelope integrity leading to muscular dystrophy. 10579712

1999
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
CUI: C0546264
Disease: Congenital Fiber Type Disproportion
Congenital Fiber Type Disproportion 		0.520 Biomarker MGD DelK32-lamin A/C has abnormal location and induces incomplete tissue maturation and severe metabolic defects leading to premature death. 22090424

2012
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
CUI: C0270960
Disease: Congenital myopathy (disorder)
Congenital myopathy (disorder) 		0.200 Biomarker MGD DelK32-lamin A/C has abnormal location and induces incomplete tissue maturation and severe metabolic defects leading to premature death. 22090424

2012
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
CUI: C0011195
Disease: Dejerine-Sottas Disease (disorder)
Dejerine-Sottas Disease (disorder) 		0.200 Biomarker MGD Loss of A-type lamin expression compromises nuclear envelope integrity leading to muscular dystrophy. 10579712

1999
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
CUI: C0011195
Disease: Dejerine-Sottas Disease (disorder)
Dejerine-Sottas Disease (disorder) 		0.200 Biomarker MGD Homozygous defects in LMNA, encoding lamin A/C nuclear-envelope proteins, cause autosomal recessive axonal neuropathy in human (Charcot-Marie-Tooth disorder type 2) and mouse. 11799477

2002
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
CUI: C0014848
Disease: Esophageal Achalasia
Esophageal Achalasia 		0.200 Biomarker MGD Mice that express farnesylated versions of prelamin A in neurons develop achalasia. 25652409

2015
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
CUI: C0027888
Disease: Hereditary Motor and Sensory Neuropathies
Hereditary Motor and Sensory Neuropathies 		0.200 Biomarker MGD Homozygous defects in LMNA, encoding lamin A/C nuclear-envelope proteins, cause autosomal recessive axonal neuropathy in human (Charcot-Marie-Tooth disorder type 2) and mouse. 11799477

2002
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
CUI: C0027888
Disease: Hereditary Motor and Sensory Neuropathies
Hereditary Motor and Sensory Neuropathies 		0.200 Biomarker MGD Loss of A-type lamin expression compromises nuclear envelope integrity leading to muscular dystrophy. 10579712

1999
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
CUI: C1408182
Disease: Hereditary motor and sensory neuropathy, types I-IV
Hereditary motor and sensory neuropathy, types I-IV 		0.200 Biomarker MGD Homozygous defects in LMNA, encoding lamin A/C nuclear-envelope proteins, cause autosomal recessive axonal neuropathy in human (Charcot-Marie-Tooth disorder type 2) and mouse. 11799477

2002
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
CUI: C1408182
Disease: Hereditary motor and sensory neuropathy, types I-IV
Hereditary motor and sensory neuropathy, types I-IV 		0.200 Biomarker MGD Loss of A-type lamin expression compromises nuclear envelope integrity leading to muscular dystrophy. 10579712

1999
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
CUI: C1408174
Disease: Hypertrophic neuropathy of infancy
Hypertrophic neuropathy of infancy 		0.200 Biomarker MGD Loss of A-type lamin expression compromises nuclear envelope integrity leading to muscular dystrophy. 10579712

1999
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
CUI: C1408174
Disease: Hypertrophic neuropathy of infancy
Hypertrophic neuropathy of infancy 		0.200 Biomarker MGD Homozygous defects in LMNA, encoding lamin A/C nuclear-envelope proteins, cause autosomal recessive axonal neuropathy in human (Charcot-Marie-Tooth disorder type 2) and mouse. 11799477

2002
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
CUI: C0270962
Disease: Multi-core congenital myopathy
Multi-core congenital myopathy 		0.200 Biomarker MGD DelK32-lamin A/C has abnormal location and induces incomplete tissue maturation and severe metabolic defects leading to premature death. 22090424

2012
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
CUI: C2750785
Disease: MUSCULAR DYSTROPHY, CONGENITAL, LMNA-RELATED (disorder)
MUSCULAR DYSTROPHY, CONGENITAL, LMNA-RELATED (disorder) 		0.920 Biomarker MGD DelK32-lamin A/C has abnormal location and induces incomplete tissue maturation and severe metabolic defects leading to premature death. 22090424

2012
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
CUI: C0410189
Disease: Muscular Dystrophy, Emery-Dreifuss
Muscular Dystrophy, Emery-Dreifuss 		0.700 Biomarker MGD