Disease: Russell-Silver syndrome ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Russell-Silver syndrome
CUI: C0175693
Disease: Russell-Silver syndrome
0.020 GeneticVariation BEFREE N88S mutation in the BSCL2 gene in a Serbian family with distal hereditary motor neuropathy type V or Silver syndrome. 20598714 2010
Russell-Silver syndrome
CUI: C0175693
Disease: Russell-Silver syndrome
0.020 GeneticVariation BEFREE Four patients diagnosed with dHMN-V or SS carried known heterozygous BSCL2 mutations (N88S and S90L). 17663003 2007