Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Microphthalmia, Syndromic 3
CUI: C1859773
Disease: Microphthalmia, Syndromic 3
0.700 CausalMutation CLINVAR
Secondary hypothyroidism
CUI: C3665349
Disease: Secondary hypothyroidism
0.700 CausalMutation CLINVAR
Anophthalmos
CUI: C0003119
Disease: Anophthalmos
0.700 CausalMutation CLINVAR
Neurodevelopmental delay
CUI: C4022738
Disease: Neurodevelopmental delay
0.700 CausalMutation CLINVAR
Isolated somatotropin deficiency
CUI: C3714796
Disease: Isolated somatotropin deficiency
0.700 CausalMutation CLINVAR