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: C0024003
Disease: Lordosis
Lordosis
0.100 Biomarker phenotype HPO
CUI: C0024421
Disease: Macroglossia
Macroglossia
0.100 Biomarker disease HPO
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability
0.100 GeneticVariation disease CLINVAR
CUI: C0026826
Disease: Muscle Hypertonia
Muscle Hypertonia
0.100 GeneticVariation phenotype CLINVAR
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
0.100 Biomarker phenotype HPO
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified
0.100 Biomarker disease HPO
CUI: C0037763
Disease: Spasm
Spasm
0.100 Biomarker phenotype HPO
CUI: C0086439
Disease: Hypokinesia
Hypokinesia
0.100 Biomarker phenotype HPO
CUI: C0220787
Disease: Endotracheal aspiration
Endotracheal aspiration
0.100 Biomarker phenotype HPO
CUI: C0231528
Disease: Myalgia
Myalgia
0.100 CausalMutation phenotype CLINVAR
CUI: C0234146
Disease: Absent reflex
Absent reflex
0.100 Biomarker phenotype HPO
CUI: C0234182
Disease: Gowers sign
Gowers sign
0.100 Biomarker phenotype HPO
CUI: C0234860
Disease: Weak cry
Weak cry
0.100 Biomarker phenotype HPO
CUI: C0239043
Disease: Difficulty chewing
Difficulty chewing
0.100 Biomarker phenotype HPO
CUI: C0239067
Disease: Difficulty walking up stairs
Difficulty walking up stairs
0.100 Biomarker phenotype HPO
CUI: C0240017
Disease: Intercostal muscle weakness
Intercostal muscle weakness
0.100 Biomarker phenotype HPO
CUI: C0240379
Disease: Open mouth (finding)
Open mouth (finding)
0.100 Biomarker phenotype HPO
CUI: C0240421
Disease: Progressive muscle weakness
Progressive muscle weakness
0.100 GeneticVariation phenotype CLINVAR
Creatine phosphokinase serum increased
0.100 CausalMutation phenotype CLINVAR
Creatine phosphokinase serum increased
0.100 GeneticVariation phenotype CLINVAR
Creatine phosphokinase serum increased
0.100 Biomarker phenotype HPO
CUI: C0241237
Disease: Difficulty standing
Difficulty standing
0.100 GeneticVariation phenotype CLINVAR
CUI: C0241442
Disease: Protrusion of tongue
Protrusion of tongue
0.100 Biomarker phenotype HPO
CUI: C0266483
Disease: Pachygyria
Pachygyria
0.100 Biomarker disease HPO
CUI: C0332615
Disease: Myopathic facies
Myopathic facies
0.100 Biomarker phenotype HPO