LAMA2, laminin subunit alpha 2, 3908

N. diseases: 167; N. variants: 127
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0333068
Disease: Flexion contracture
Flexion contracture 		0.100 Biomarker disease HPO
CUI: C0333751
Disease: Muscle fiber atrophy
Muscle fiber atrophy 		0.100 Biomarker phenotype HPO
CUI: C0345392
Disease: Congenital kyphoscoliosis
Congenital kyphoscoliosis 		0.100 Biomarker disease HPO
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		0.100 GeneticVariation phenotype CLINVAR
CUI: C0476403
Disease: Electromyogram abnormal
Electromyogram abnormal 		0.100 Biomarker phenotype HPO
CUI: C0520947
Disease: Clumsiness - motor delay
Clumsiness - motor delay 		0.100 Biomarker disease HPO
CUI: C0522214
Disease: Abnormal visual evoked potential
Abnormal visual evoked potential 		0.100 Biomarker phenotype HPO
CUI: C0575081
Disease: Gait abnormality
Gait abnormality 		0.100 Biomarker group HPO
CUI: C0575158
Disease: Kyphoscoliosis deformity of spine
Kyphoscoliosis deformity of spine 		0.100 Biomarker disease HPO
CUI: C0600033
Disease: Acquired Kyphoscoliosis
Acquired Kyphoscoliosis 		0.100 Biomarker disease HPO
CUI: C0700198
Disease: Pulmonary aspiration
Pulmonary aspiration 		0.100 Biomarker phenotype HPO
CUI: C0751495
Disease: Seizures, Focal
Seizures, Focal 		0.100 Biomarker phenotype HPO
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.100 Biomarker group HPO
CUI: C1112256
Disease: Sensorimotor neuropathy
Sensorimotor neuropathy 		0.100 Biomarker disease HPO
CUI: C1262477
Disease: Weight decreased
Weight decreased 		0.100 Biomarker phenotype HPO
CUI: C1842898
Disease: Muscular Dystrophy, Congenital, due to Partial LAMA2 Deficiency
Muscular Dystrophy, Congenital, due to Partial LAMA2 Deficiency 		0.100 CausalMutation disease CLINVAR
CUI: C1843057
Disease: Calf muscle hypertrophy
Calf muscle hypertrophy 		0.100 Biomarker phenotype HPO
CUI: C1850830
Disease: Exercise-induced myalgia
Exercise-induced myalgia 		0.100 CausalMutation phenotype CLINVAR
CUI: C1853766
Disease: Pontocerebellar atrophy
Pontocerebellar atrophy 		0.100 Biomarker phenotype HPO
CUI: C1854301
Disease: Motor delay
Motor delay 		0.100 Biomarker phenotype HPO
CUI: C1854494
Disease: Slow progression
Slow progression 		0.100 Biomarker phenotype HPO
CUI: C1856019
Disease: Abnormal cortical gyration
Abnormal cortical gyration 		0.100 Biomarker phenotype HPO
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		0.100 GeneticVariation phenotype CLINVAR
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		0.100 Biomarker phenotype HPO
CUI: C1861403
Disease: Variable expressivity
Variable expressivity 		0.100 Biomarker phenotype HPO