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: C0549306
Disease:
Mesomelia
A 0.700 CausalMutation CLINVAR
dbSNP: rs1400419650
rs1400419650
Entrez Id: 9321
Gene Symbol: TRIP11
TRIP11
CUI: C0158986
Disease:
Neonatal hypoglycemia
A 0.700 CausalMutation CLINVAR
dbSNP: rs1400419650
rs1400419650
Entrez Id: 9321
Gene Symbol: TRIP11
TRIP11
CUI: C1096086
Disease:
Deformity of lower limb
A 0.700 CausalMutation CLINVAR
dbSNP: rs1400419650
rs1400419650
Entrez Id: 9321
Gene Symbol: TRIP11
TRIP11
CUI: C0454644
Disease:
Delayed speech and language development
A 0.700 CausalMutation CLINVAR
dbSNP: rs1400419650
rs1400419650
Entrez Id: 9321
Gene Symbol: TRIP11
TRIP11
CUI: C1837406
Disease:
Hypoplasia involving bones of the upper limbs
A 0.700 CausalMutation CLINVAR
dbSNP: rs1400419650
rs1400419650
Entrez Id: 9321
Gene Symbol: TRIP11
TRIP11
CUI: C1837658
Disease:
Gross motor development delay
A 0.700 CausalMutation CLINVAR
dbSNP: rs1400419650
rs1400419650
Entrez Id: 9321
Gene Symbol: TRIP11
TRIP11
CUI: C0549629
Disease:
Abnormal delivery
A 0.700 CausalMutation CLINVAR
dbSNP: rs1400419650
rs1400419650
Entrez Id: 9321
Gene Symbol: TRIP11
TRIP11
CUI: C1842153
Disease:
Irregular vertebral endplates
A 0.700 CausalMutation CLINVAR
dbSNP: rs1400419650
rs1400419650
Entrez Id: 9321
Gene Symbol: TRIP11
TRIP11
CUI: C4281993
Disease:
Neonatal respiratory distress
A 0.700 CausalMutation CLINVAR
dbSNP: rs1400419650
rs1400419650
Entrez Id: 9321
Gene Symbol: TRIP11
TRIP11
CUI: C4020900
Disease:
Abnormality of the upper limb
A 0.700 CausalMutation CLINVAR
dbSNP: rs1400419650
rs1400419650
Entrez Id: 9321
Gene Symbol: TRIP11
TRIP11
CUI: C0024003
Disease:
Lordosis
A 0.700 CausalMutation CLINVAR
dbSNP: rs1400419650
rs1400419650
Entrez Id: 9321
Gene Symbol: TRIP11
TRIP11
CUI: C0345371
Disease:
Hypoplasia of lower limb
A 0.700 CausalMutation CLINVAR
dbSNP: rs1400419650
rs1400419650
Entrez Id: 9321
Gene Symbol: TRIP11
TRIP11
CUI: C2745953
Disease:
Spondylometaphyseal dysplasia with dentinogenesis imperfecta
A 0.700 CausalMutation CLINVAR
dbSNP: rs1400419650
rs1400419650
Entrez Id: 9321
Gene Symbol: TRIP11
TRIP11
CUI: C1837482
Disease:
Thoracic hypoplasia
A 0.700 CausalMutation CLINVAR
dbSNP: rs1400419650
rs1400419650
Entrez Id: 9321
Gene Symbol: TRIP11
TRIP11
CUI: C0016506
Disease:
Foot Deformities
A 0.700 CausalMutation CLINVAR
dbSNP: rs1400419650
rs1400419650
Entrez Id: 9321
Gene Symbol: TRIP11
TRIP11
CUI: C0265294
Disease:
Pyle metaphyseal dysplasia
A 0.700 CausalMutation CLINVAR
dbSNP: rs1400419650
rs1400419650
Entrez Id: 9321
Gene Symbol: TRIP11
TRIP11
CUI: C0221357
Disease:
Brachydactyly
A 0.700 CausalMutation CLINVAR
dbSNP: rs1400419650
rs1400419650
Entrez Id: 9321
Gene Symbol: TRIP11
TRIP11
CUI: C1836542
Disease:
Depressed nasal bridge
A 0.700 CausalMutation CLINVAR
dbSNP: rs1400419650
rs1400419650
Entrez Id: 9321
Gene Symbol: TRIP11
TRIP11
CUI: C2267233
Disease:
Neonatal Hypotonia
A 0.700 CausalMutation CLINVAR
dbSNP: rs1400419650
rs1400419650
Entrez Id: 9321
Gene Symbol: TRIP11
TRIP11
CUI: C4020847
Disease:
Abnormality of pelvic girdle bone morphology
A 0.700 CausalMutation CLINVAR
dbSNP: rs1400419650
rs1400419650
Entrez Id: 9321
Gene Symbol: TRIP11
TRIP11
CUI: C4021789
Disease:
Abnormality of the vertebral column
A 0.700 CausalMutation CLINVAR
dbSNP: rs1400419650
rs1400419650
Entrez Id: 9321
Gene Symbol: TRIP11
TRIP11
CUI: C1849937
Disease:
Disproportionate short-limb short stature
A 0.700 CausalMutation CLINVAR
dbSNP: rs1400419650
rs1400419650
Entrez Id: 9321
Gene Symbol: TRIP11
TRIP11
CUI: C0743924
Disease:
Short fetal femur length
A 0.700 CausalMutation CLINVAR
dbSNP: rs1400419650
rs1400419650
Entrez Id: 9321
Gene Symbol: TRIP11
TRIP11
CUI: C4072904
Disease:
Secondary Caesarian section
A 0.700 CausalMutation CLINVAR
dbSNP: rs1400419650
rs1400419650
Entrez Id: 9321
Gene Symbol: TRIP11
TRIP11
CUI: C1866730
Disease:
Rhizomelia
A 0.700 CausalMutation CLINVAR