rs776720232, PGAP3

N. diseases: 10
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Congenital diaphragmatic hernia
CUI: C0235833
Disease: Congenital diaphragmatic hernia
0.700 CausalMutation CLINVAR
Infantile axial hypotonia
CUI: C3806604
Disease: Infantile axial hypotonia
0.700 CausalMutation CLINVAR
Low posterior hairline
CUI: C1855728
Disease: Low posterior hairline
0.700 CausalMutation CLINVAR
Low set ears
CUI: C0239234
Disease: Low set ears
0.700 CausalMutation CLINVAR
Profound global developmental delay
CUI: C3553450
Disease: Profound global developmental delay
0.700 CausalMutation CLINVAR
Seizures
CUI: C0036572
Disease: Seizures
0.700 CausalMutation CLINVAR
Severe global developmental delay
CUI: C1837397
Disease: Severe global developmental delay
0.700 CausalMutation CLINVAR
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
0.700 CausalMutation CLINVAR
Uranostaphyloschisis
CUI: C2981150
Disease: Uranostaphyloschisis
0.700 CausalMutation CLINVAR
Agenesis of maxillary lateral incisor
CUI: C1849950
Disease: Agenesis of maxillary lateral incisor
0.700 CausalMutation CLINVAR