rs1223073957, MED25

N. diseases: 12
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Microcephaly (physical finding)
CUI: C4551563
Disease: Microcephaly (physical finding)
0.700 CausalMutation CLINVAR
Open mouth (finding)
CUI: C0240379
Disease: Open mouth (finding)
0.700 CausalMutation CLINVAR
High forehead
CUI: C0239676
Disease: High forehead
0.700 CausalMutation CLINVAR
BASEL-VANAGAITE-SMIRIN-YOSEF SYNDROME
CUI: C4225323
Disease: BASEL-VANAGAITE-SMIRIN-YOSEF SYNDROME
0.700 CausalMutation CLINVAR
Severe intellectual disability
CUI: C0036857
Disease: Severe intellectual disability
0.700 CausalMutation CLINVAR
Sparse hair
CUI: C1837770
Disease: Sparse hair
0.700 CausalMutation CLINVAR
Hypoplasia of corpus callosum
CUI: C0344482
Disease: Hypoplasia of corpus callosum
0.700 CausalMutation CLINVAR
Dysmorphic facies
CUI: C0424503
Disease: Dysmorphic facies
0.700 CausalMutation CLINVAR
Blepharophimosis
CUI: C0005744
Disease: Blepharophimosis
0.700 CausalMutation CLINVAR
Posteriorly rotated ear
CUI: C0431478
Disease: Posteriorly rotated ear
0.700 CausalMutation CLINVAR
Seizures
CUI: C0036572
Disease: Seizures
0.700 CausalMutation CLINVAR
Proportionate short stature
CUI: C0878660
Disease: Proportionate short stature
0.700 CausalMutation CLINVAR