SMN2, survival of motor neuron 2, centromeric, 6607

N. diseases: 299; N. variants: 35
Disease: Amyloidosis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0002726
Disease: Amyloidosis
Amyloidosis 		0.010 Biomarker disease BEFREE We show that SMA and LEN can be internalised within cardiomyocytes and were observed to localise to the perinuclear area, assessed by confocal microscopy as a possible mechanism for underlying cytotoxicity and pathogenesis associated with amyloidosis. 30347409 2018