LAMA2, laminin subunit alpha 2, 3908

N. diseases: 167; N. variants: 127
Source: ALL
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: C0600033
Disease: Acquired Kyphoscoliosis
Acquired Kyphoscoliosis 		disease Musculoskeletal Diseases Acquired Abnormality 149 2 0.100 None 0
CUI: C0009917
Disease: Contracture
Contracture 		disease Musculoskeletal Diseases Anatomical Abnormality 111 12 0.020 None 1.000 2 2004 2005
CUI: C4025843
Disease: Abnormality of refraction
Abnormality of refraction 		disease Anatomical Abnormality 28 31 0.100 None 1.000 1 1 2013 2013
CUI: C0575158
Disease: Kyphoscoliosis deformity of spine
Kyphoscoliosis deformity of spine 		disease Musculoskeletal Diseases Anatomical Abnormality 155 17 0.100 None 0
CUI: C1865318
Disease: Abnormality of the temporomandibular joint
Abnormality of the temporomandibular joint 		phenotype Anatomical Abnormality 4 0.100 None 0
CUI: C4022161
Disease: Increased endomysial connective tissue
Increased endomysial connective tissue 		disease Anatomical Abnormality 10 0.100 None 0
CUI: C0333751
Disease: Muscle fiber atrophy
Muscle fiber atrophy 		phenotype Cell or Molecular Dysfunction 25 2 0.100 None 0
CUI: C0429494
Disease: Ocular axial length
Ocular axial length 		phenotype Clinical Attribute 4 11 0.100 None 1.000 1 1 2013 2013
CUI: C0240340
Disease: Microdontia (disorder)
Microdontia (disorder) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Congenital Abnormality 109 6 0.010 None 1.000 1 2008 2008
CUI: C0266464
Disease: Polymicrogyria
Polymicrogyria 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 199 29 0.010 None 1.000 1 2009 2009
CUI: C0266483
Disease: Pachygyria
Pachygyria 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 129 8 0.100 None 0
CUI: C0345392
Disease: Congenital kyphoscoliosis
Congenital kyphoscoliosis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 151 2 0.100 None 0
CUI: C1263858
Disease: Muscular dystrophy congenital, merosin negative
Muscular dystrophy congenital, merosin negative 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 12 109 1.000 strong 1.000 55 109 1955 2018
CUI: C0699743
Disease: Congenital muscular dystrophy (disorder)
Congenital muscular dystrophy (disorder) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 54 20 0.500 strong 1.000 51 3 1996 2020
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 280 67 0.500 None 1.000 36 1 1998 2019
CUI: C1852502
Disease: CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT
CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT 		disease Musculoskeletal Diseases; Stomatognathic Diseases Disease or Syndrome 45 9 0.100 None 1.000 17 1996 2019
CUI: C1861922
Disease: CAMPOMELIC DYSPLASIA
CAMPOMELIC DYSPLASIA 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 68 20 0.100 None 1.000 17 1996 2019
CUI: C2827469
Disease: Coronary Microvascular Disease
Coronary Microvascular Disease 		disease Disease or Syndrome 45 3 0.100 None 1.000 17 1996 2019
CUI: C0026848
Disease: Myopathy
Myopathy 		group Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 634 166 0.100 None 1.000 10 2005 2018
CUI: C0686353
Disease: Muscular Dystrophies, Limb-Girdle
Muscular Dystrophies, Limb-Girdle 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 118 37 0.160 None 1.000 6 1 1998 2017
CUI: C0410174
Disease: Fukuyama Type Congenital Muscular Dystrophy
Fukuyama Type Congenital Muscular Dystrophy 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases Disease or Syndrome 35 29 0.050 None 1.000 5 1998 2018
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 375 170 0.040 None 1.000 4 2005 2019
CUI: C1842898
Disease: Muscular Dystrophy, Congenital, due to Partial LAMA2 Deficiency
Muscular Dystrophy, Congenital, due to Partial LAMA2 Deficiency 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 1 7 0.100 None 1.000 4 7 2010 2018
CUI: C0027092
Disease: Myopia
Myopia 		disease Eye Diseases Disease or Syndrome 490 167 0.410 None 1.000 3 3 2013 2016
CUI: C0027868
Disease: Neuromuscular Diseases
Neuromuscular Diseases 		group Nervous System Diseases Disease or Syndrome 171 50 0.020 None 1.000 2 1999 2005