smn1 Phenotypes

Phenotypes

XB-GENEPAGE-489159

Gene Symbol: smn1 Gene Name: survival of motor neuron 1

Expression Phenotypes Gene expression phenotype annotations where the gene of interest has been disrupted (manipulated) or is the gene assayed (assayed). Computed annotations are derived from differential expression analysis from Xenbase processed GEO data with the criteria of a TPM >= 1, FDR <= 0.05 and an absolute LogFC >= 2.
Computed annotations: smn1 assayed (8 sources)

Monarch Ortholog Phenotypes These phenotypes are associated with this gene with a has phenotype relation via Monarch.
Human (21 sources): Areflexia, Areflexia of lower limbs, Atrial septal defect, Decreased fetal movement, Degeneration of anterior horn cells, EMG abnormality, EMG: neuropathic changes, Hand tremor, Hyporeflexia, Limb fasciculations, Muscle spasm, Muscle weakness, Proximal amyotrophy, Proximal muscle weakness, Proximal muscle weakness in lower limbs, Recurrent respiratory infections, Respiratory insufficiency, Skeletal muscle atrophy, Spinal muscular atrophy, Tongue fasciculations, Ventricular septal defect [+]
View all ortholog results at Monarch

Monarch Ortholog Phenotypes

These phenotypes are associated with this gene with a has phenotype relation via Monarch.

Human (21 sources): Areflexia, Areflexia of lower limbs, Atrial septal defect, Decreased fetal movement, Degeneration of anterior horn cells, EMG abnormality, EMG: neuropathic changes, Hand tremor, Hyporeflexia, Limb fasciculations, [+]