Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6606
Gene Symbol: SMN1
SMN1
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: 6606
Gene Symbol: SMN1
SMN1
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
0.100 GeneticVariation CLINVAR Spinal muscular atrophy diagnostics. 17761649

2007