Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6607
Gene Symbol: SMN2
SMN2
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		0.100 CausalMutation CLINVAR A homozygous double mutation in SMN1: a complicated genetic diagnosis of SMA. 24498607

2013
Entrez Id: 6607
Gene Symbol: SMN2
SMN2
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		0.100 GeneticVariation CLINVAR Spinal muscular atrophy diagnostics. 17761649

2007