Disease Term Disease ID Gene Symbol Classification References Source
Silver-Russell syndrome due to a point mutation 397590 CDKN1C Causal Pathogenic evidence from ClinVar - ClinVar
HMGA2 Causal Pathogenic evidence from ClinVar - ClinVar
IGF2 Causal Pathogenic evidence from ClinVar - ClinVar
PLAG1 Causal Pathogenic evidence from ClinVar - ClinVar
Silver-Russell syndrome due to 11p15 microduplication 231144 IGF2 Causal Pathogenic evidence from ClinVar - ClinVar
H19 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
Silver-Russell syndrome due to an imprinting defect of 11p15 231140 IGF2 Causal Pathogenic evidence from ClinVar - ClinVar
H19 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -