LMNA, lamin A/C, 4000

N. diseases: 401; N. variants: 107
Source: BEFREE ×
Disease Type Disease Class Semantic Type N. genes d N. SNPs d Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
CUI: C0036646
Disease: Age-related cataract
Age-related cataract 		disease Eye Diseases Acquired Abnormality 92 15 0.010 None < 0.001 1 2 2012 2012
CUI: C0332853
Disease: Anastomosis
Anastomosis 		disease Acquired Abnormality 155 2 0.010 None 1.000 1 2019 2019
CUI: C0009917
Disease: Contracture
Contracture 		disease Musculoskeletal Diseases Anatomical Abnormality 102 12 0.050 None 1.000 4 1 2000 2017
CUI: C0009918
Disease: Contracture of joint
Contracture of joint 		disease Musculoskeletal Diseases Anatomical Abnormality 35 0.020 None 1.000 2 2010 2018
CUI: C0019270
Disease: Hernia
Hernia 		phenotype Pathological Conditions, Signs and Symptoms Anatomical Abnormality 107 9 0.020 None 1.000 2 2017 2019
CUI: C4021790
Disease: Abnormality of the skeletal system
Abnormality of the skeletal system 		disease Anatomical Abnormality 120 5 0.020 None 1.000 2 2008 2012
CUI: C1399793
Disease: skin fold (abnormality)
skin fold (abnormality) 		disease Anatomical Abnormality 21 8 0.010 None 1.000 1 2009 2009
CUI: C4024589
Disease: Aplasia/Hypoplasia of the mandible
Aplasia/Hypoplasia of the mandible 		phenotype Anatomical Abnormality 16 0.010 None 1.000 1 2014 2014
CUI: C0013336
Disease: Dwarfism
Dwarfism 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Congenital Abnormality 377 64 0.130 None 1.000 3 3 2005 2019
CUI: C0426799
Disease: Congenital hypoplasia of clavicle
Congenital hypoplasia of clavicle 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 5 0.130 None 1.000 3 2007 2010
CUI: C0085280
Disease: Alagille Syndrome
Alagille Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Cardiovascular Diseases Congenital Abnormality 38 7 0.020 None 1.000 2 1 2014 2016
CUI: C0376634
Disease: Craniofacial Abnormalities
Craniofacial Abnormalities 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 100 4 0.320 None 1.000 2 2005 2012
CUI: C0546264
Disease: Congenital Fiber Type Disproportion
Congenital Fiber Type Disproportion 		disease Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality 17 8 0.520 strong 1.000 2 2012 2015
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 1091 73 0.010 None 1.000 1 2005 2005
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 756 47 0.010 None 1.000 1 2009 2009
CUI: C0013274
Disease: Patent ductus arteriosus
Patent ductus arteriosus 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 303 31 0.110 None 1.000 1 2011 2011
CUI: C0018798
Disease: Congenital Heart Defects
Congenital Heart Defects 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 319 40 0.010 None 1.000 1 2 2013 2013
CUI: C0037268
Disease: Skin Abnormalities
Skin Abnormalities 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Congenital Abnormality 55 9 0.010 None 1.000 1 2017 2017
CUI: C0151491
Disease: Congenital musculoskeletal anomalies
Congenital musculoskeletal anomalies 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 7 0.010 None 1.000 1 2016 2016
CUI: C0221357
Disease: Brachydactyly
Brachydactyly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 54 5 0.110 None 1.000 1 2008 2008
CUI: C0344917
Disease: Left ventricular outflow tract obstruction
Left ventricular outflow tract obstruction 		disease Congenital Abnormality 10 2 0.010 None 1.000 1 1 2017 2017
CUI: C1737329
Disease: Dysmorphism
Dysmorphism 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 74 7 0.010 None 1.000 1 2005 2005
CUI: C0033300
Disease: Progeria
Progeria 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 114 24 1.000 None 0.967 183 17 2003 2020
CUI: C0271694
Disease: Familial partial lipodystrophy
Familial partial lipodystrophy 		disease Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 25 16 0.600 limited 0.978 85 12 2000 2020
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		group Cardiovascular Diseases Disease or Syndrome 352 65 0.500 None 0.994 84 10 1996 2020