rs1555386022, TRIP11

N. diseases: 38
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Secondary Caesarian section
CUI: C4072904
Disease: Secondary Caesarian section
0.700 CausalMutation CLINVAR
Neonatal respiratory distress
CUI: C4281993
Disease: Neonatal respiratory distress
0.700 CausalMutation CLINVAR
Skeletal dysplasia
CUI: C0410528
Disease: Skeletal dysplasia
0.700 CausalMutation CLINVAR
Spondylometaphyseal dysplasia with dentinogenesis imperfecta
CUI: C2745953
Disease: Spondylometaphyseal dysplasia with dentinogenesis imperfecta
0.700 CausalMutation CLINVAR
Rhizomelia
CUI: C1866730
Disease: Rhizomelia
0.700 CausalMutation CLINVAR
Abnormality of the acetabulum
CUI: C4021739
Disease: Abnormality of the acetabulum
0.700 CausalMutation CLINVAR
Hypoplasia involving bones of the upper limbs
CUI: C1837406
Disease: Hypoplasia involving bones of the upper limbs
0.700 CausalMutation CLINVAR
Deformity of lower limb
CUI: C1096086
Disease: Deformity of lower limb
0.700 CausalMutation CLINVAR
Delayed speech and language development
CUI: C0454644
Disease: Delayed speech and language development
0.700 CausalMutation CLINVAR
Hand deformities
CUI: C0018564
Disease: Hand deformities
0.700 CausalMutation CLINVAR
Disproportionate short-limb short stature
CUI: C1849937
Disease: Disproportionate short-limb short stature
0.700 CausalMutation CLINVAR
Mesomelia
CUI: C0549306
Disease: Mesomelia
0.700 CausalMutation CLINVAR
Disproportionate short stature
CUI: C0878659
Disease: Disproportionate short stature
0.700 CausalMutation CLINVAR
Yellow-brown discoloration of the teeth
CUI: C1863008
Disease: Yellow-brown discoloration of the teeth
0.700 CausalMutation CLINVAR
Abnormality of the vertebral column
CUI: C4021789
Disease: Abnormality of the vertebral column
0.700 CausalMutation CLINVAR
Pyle metaphyseal dysplasia
CUI: C0265294
Disease: Pyle metaphyseal dysplasia
0.700 CausalMutation CLINVAR
Gestational Diabetes
CUI: C0085207
Disease: Gestational Diabetes
0.700 CausalMutation CLINVAR
Brachydactyly
CUI: C0221357
Disease: Brachydactyly
0.700 CausalMutation CLINVAR
Acromelia
CUI: C4023675
Disease: Acromelia
0.700 CausalMutation CLINVAR
Irregular vertebral endplates
CUI: C1842153
Disease: Irregular vertebral endplates
0.700 CausalMutation CLINVAR
Small midface
CUI: C2673410
Disease: Small midface
0.700 CausalMutation CLINVAR
Neonatal hypoglycemia
CUI: C0158986
Disease: Neonatal hypoglycemia
0.700 CausalMutation CLINVAR
Thin upper lip vermilion
CUI: C1865017
Disease: Thin upper lip vermilion
0.700 CausalMutation CLINVAR
Lordosis
CUI: C0024003
Disease: Lordosis
0.700 CausalMutation CLINVAR
Thoracic hypoplasia
CUI: C1837482
Disease: Thoracic hypoplasia
0.700 CausalMutation CLINVAR