SMN1, survival of motor neuron 1, telomeric, 6606

N. diseases: 317; N. variants: 30
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0026847
Disease: Spinal Muscular Atrophy
Spinal Muscular Atrophy 		0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C0026847
Disease: Spinal Muscular Atrophy
Spinal Muscular Atrophy 		0.700 Biomarker disease HPO
CUI: C2931844
Disease: Spinal muscular atrophy 4
Spinal muscular atrophy 4 		0.300 Biomarker disease CTD_human
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness 		0.200 Biomarker phenotype HPO
CUI: C1145670
Disease: Respiratory Failure
Respiratory Failure 		0.180 Biomarker disease HPO
CUI: C0746674
Disease: Generalized muscle weakness
Generalized muscle weakness 		0.110 GeneticVariation phenotype CLINVAR
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		0.100 Biomarker group HPO
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects 		0.100 Biomarker group HPO
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation phenotype CLINVAR
CUI: C0035229
Disease: Respiratory Insufficiency
Respiratory Insufficiency 		0.100 Biomarker phenotype HPO
CUI: C0037763
Disease: Spasm
Spasm 		0.100 Biomarker phenotype HPO
CUI: C0151888
Disease: Hyporeflexia
Hyporeflexia 		0.100 Biomarker phenotype HPO
CUI: C0221629
Disease: Proximal muscle weakness
Proximal muscle weakness 		0.100 Biomarker phenotype HPO
CUI: C0234146
Disease: Absent reflex
Absent reflex 		0.100 GeneticVariation phenotype CLINVAR
CUI: C0234146
Disease: Absent reflex
Absent reflex 		0.100 Biomarker phenotype HPO
CUI: C0235659
Disease: Reduced fetal movement
Reduced fetal movement 		0.100 Biomarker phenotype HPO
CUI: C0239548
Disease: Fasciculation, Tongue
Fasciculation, Tongue 		0.100 Biomarker phenotype HPO
CUI: C0239548
Disease: Fasciculation, Tongue
Fasciculation, Tongue 		0.100 GeneticVariation phenotype CLINVAR
CUI: C0239842
Disease: Tremor of hands
Tremor of hands 		0.100 Biomarker phenotype HPO
CUI: C0476403
Disease: Electromyogram abnormal
Electromyogram abnormal 		0.100 Biomarker phenotype HPO
CUI: C0750403
Disease: Proximal weakness
Proximal weakness 		0.100 GeneticVariation phenotype CLINVAR
CUI: C1843505
Disease: Degeneration of anterior horn cells
Degeneration of anterior horn cells 		0.100 Biomarker phenotype HPO
CUI: C1850794
Disease: Proximal amyotrophy
Proximal amyotrophy 		0.100 Biomarker disease HPO
CUI: C1854494
Disease: Slow progression
Slow progression 		0.100 Biomarker phenotype HPO
CUI: C1854657
Disease: Limb fasciculations
Limb fasciculations 		0.100 Biomarker phenotype HPO