Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 9997
Gene Symbol: SCO2
SCO2
0.020 GeneticVariation disease BEFREE This case provides strong support that SCO2 mutations can result in neonatal hypotonia with an SMA 1 phenotype. 14994243 2004
Entrez Id: 9997
Gene Symbol: SCO2
SCO2
0.020 GeneticVariation disease BEFREE To report a novel SCO2 mutation with prominent spinal cord involvement mimicking spinal muscular atrophy (Werdnig-Hoffmann disease). 12020273 2002