Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1400419650
rs1400419650
Entrez Id: 9321
Gene Symbol: TRIP11
TRIP11
CUI: C2673410
Disease:
Small midface
A 0.700 CausalMutation CLINVAR
dbSNP: rs1400419650
rs1400419650
Entrez Id: 9321
Gene Symbol: TRIP11
TRIP11
CUI: C4023675
Disease:
Acromelia
A 0.700 CausalMutation CLINVAR
dbSNP: rs1400419650
rs1400419650
Entrez Id: 9321
Gene Symbol: TRIP11
TRIP11
CUI: C1855650
Disease:
Birth length less than 3rd percentile
A 0.700 CausalMutation CLINVAR
dbSNP: rs1400419650
rs1400419650
Entrez Id: 9321
Gene Symbol: TRIP11
TRIP11
CUI: C2673654
Disease:
Rhizo-meso-acromelic limb shortening
A 0.700 CausalMutation CLINVAR
dbSNP: rs1400419650
rs1400419650
Entrez Id: 9321
Gene Symbol: TRIP11
TRIP11
CUI: C1840077
Disease:
Anteverted nostril
A 0.700 CausalMutation CLINVAR
dbSNP: rs1400419650
rs1400419650
Entrez Id: 9321
Gene Symbol: TRIP11
TRIP11
CUI: C0018564
Disease:
Hand deformities
A 0.700 CausalMutation CLINVAR
dbSNP: rs1400419650
rs1400419650
Entrez Id: 9321
Gene Symbol: TRIP11
TRIP11
CUI: C0410528
Disease:
Skeletal dysplasia
A 0.700 CausalMutation CLINVAR
dbSNP: rs1420691965
rs1420691965
Entrez Id: 9321
Gene Symbol: TRIP11
TRIP11
CUI: C0029422
Disease:
Osteochondrodysplasias
C 0.700 CausalMutation CLINVAR
dbSNP: rs1429820082
rs1429820082
Entrez Id: 9321
Gene Symbol: TRIP11
TRIP11
CUI: C0029422
Disease:
Osteochondrodysplasias
C 0.700 CausalMutation CLINVAR
dbSNP: rs149079426
rs149079426
Entrez Id: 9321
Gene Symbol: TRIP11
TRIP11
CUI: C0029422
Disease:
Osteochondrodysplasias
A 0.700 CausalMutation CLINVAR
dbSNP: rs1555386022
rs1555386022
Entrez Id: 9321
Gene Symbol: TRIP11
TRIP11
CUI: C4072904
Disease:
Secondary Caesarian section
A 0.700 CausalMutation CLINVAR
dbSNP: rs1555386022
rs1555386022
Entrez Id: 9321
Gene Symbol: TRIP11
TRIP11
CUI: C4281993
Disease:
Neonatal respiratory distress
A 0.700 CausalMutation CLINVAR
dbSNP: rs1555386022
rs1555386022
Entrez Id: 9321
Gene Symbol: TRIP11
TRIP11
CUI: C0410528
Disease:
Skeletal dysplasia
A 0.700 CausalMutation CLINVAR
dbSNP: rs1555386022
rs1555386022
Entrez Id: 9321
Gene Symbol: TRIP11
TRIP11
CUI: C2745953
Disease:
Spondylometaphyseal dysplasia with dentinogenesis imperfecta
A 0.700 CausalMutation CLINVAR
dbSNP: rs1555386022
rs1555386022
Entrez Id: 9321
Gene Symbol: TRIP11
TRIP11
CUI: C1866730
Disease:
Rhizomelia
A 0.700 CausalMutation CLINVAR
dbSNP: rs1555386022
rs1555386022
Entrez Id: 9321
Gene Symbol: TRIP11
TRIP11
CUI: C4021739
Disease:
Abnormality of the acetabulum
A 0.700 CausalMutation CLINVAR
dbSNP: rs1555386022
rs1555386022
Entrez Id: 9321
Gene Symbol: TRIP11
TRIP11
CUI: C1837406
Disease:
Hypoplasia involving bones of the upper limbs
A 0.700 CausalMutation CLINVAR
dbSNP: rs1555386022
rs1555386022
Entrez Id: 9321
Gene Symbol: TRIP11
TRIP11
CUI: C1096086
Disease:
Deformity of lower limb
A 0.700 CausalMutation CLINVAR
dbSNP: rs1555386022
rs1555386022
Entrez Id: 9321
Gene Symbol: TRIP11
TRIP11
CUI: C0454644
Disease:
Delayed speech and language development
A 0.700 CausalMutation CLINVAR
dbSNP: rs1555386022
rs1555386022
Entrez Id: 9321
Gene Symbol: TRIP11
TRIP11
CUI: C0018564
Disease:
Hand deformities
A 0.700 CausalMutation CLINVAR
dbSNP: rs1555386022
rs1555386022
Entrez Id: 9321
Gene Symbol: TRIP11
TRIP11
CUI: C1849937
Disease:
Disproportionate short-limb short stature
A 0.700 CausalMutation CLINVAR
dbSNP: rs1555386022
rs1555386022
Entrez Id: 9321
Gene Symbol: TRIP11
TRIP11
CUI: C0549306
Disease:
Mesomelia
A 0.700 CausalMutation CLINVAR
dbSNP: rs1555386022
rs1555386022
Entrez Id: 9321
Gene Symbol: TRIP11
TRIP11
CUI: C0878659
Disease:
Disproportionate short stature
A 0.700 CausalMutation CLINVAR
dbSNP: rs1555386022
rs1555386022
Entrez Id: 9321
Gene Symbol: TRIP11
TRIP11
CUI: C1863008
Disease:
Yellow-brown discoloration of the teeth
A 0.700 CausalMutation CLINVAR
dbSNP: rs1555386022
rs1555386022
Entrez Id: 9321
Gene Symbol: TRIP11
TRIP11
CUI: C4021789
Disease:
Abnormality of the vertebral column
A 0.700 CausalMutation CLINVAR