Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6607
Gene Symbol: SMN2
SMN2
0.100 CausalMutation phenotype CLINVAR Intragenic telSMN mutations: frequency, distribution, evidence of a founder effect, and modification of the spinal muscular atrophy phenotype by cenSMN copy number. 9837824 1998