rs1057518921, MED12

N. diseases: 7
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Dysmorphic facies
CUI: C0424503
Disease: Dysmorphic facies
0.700 GeneticVariation CLINVAR
Microcephaly (physical finding)
CUI: C4551563
Disease: Microcephaly (physical finding)
0.700 GeneticVariation CLINVAR
Dilated ventricles (finding)
CUI: C3278923
Disease: Dilated ventricles (finding)
0.700 GeneticVariation CLINVAR
Expressive language delay
CUI: C0454641
Disease: Expressive language delay
0.700 GeneticVariation CLINVAR
Absent speech
CUI: C1854882
Disease: Absent speech
0.700 GeneticVariation CLINVAR
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
0.700 GeneticVariation CLINVAR
Seizures
CUI: C0036572
Disease: Seizures
0.700 GeneticVariation CLINVAR