rs132630297, PHF6

N. diseases: 6
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Penile hypospadias
CUI: C1691215
Disease: Penile hypospadias
0.700 CausalMutation CLINVAR
Borjeson-Forssman-Lehmann syndrome
CUI: C0265339
Disease: Borjeson-Forssman-Lehmann syndrome
0.700 CausalMutation CLINVAR
Mild global developmental delay
CUI: C4012968
Disease: Mild global developmental delay
0.700 CausalMutation CLINVAR
Joint laxity
CUI: C0086437
Disease: Joint laxity
0.700 CausalMutation CLINVAR
Atrial Septal Defects
CUI: C0018817
Disease: Atrial Septal Defects
0.700 CausalMutation CLINVAR
Delayed speech and language development
CUI: C0454644
Disease: Delayed speech and language development
0.700 CausalMutation CLINVAR