TBCK, TBC1 domain containing kinase, 93627

N. diseases: 85; N. variants: 11
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs869320711
rs869320711
Entrez Id: 93627
Gene Symbol: TBCK
TBCK
CUI: C4225161
Disease:
HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3 		T 0.800 CausalMutation CLINVAR
dbSNP: rs1560755661
rs1560755661
Entrez Id: 93627
Gene Symbol: TBCK
TBCK
CUI: C0700078
Disease:
Decreased tendon reflex 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1560755661
rs1560755661
Entrez Id: 93627
Gene Symbol: TBCK
TBCK
CUI: C0549629
Disease:
Abnormal delivery 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1560755661
rs1560755661
Entrez Id: 93627
Gene Symbol: TBCK
TBCK
CUI: C2674608
Disease:
Feeding difficulties in infancy 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1560755661
rs1560755661
Entrez Id: 93627
Gene Symbol: TBCK
TBCK
CUI: C4281993
Disease:
Neonatal respiratory distress 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1560755661
rs1560755661
Entrez Id: 93627
Gene Symbol: TBCK
TBCK
CUI: C4551488
Disease:
Bifid uvula 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1560755661
rs1560755661
Entrez Id: 93627
Gene Symbol: TBCK
TBCK
CUI: C0746674
Disease:
Generalized muscle weakness 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1560755661
rs1560755661
Entrez Id: 93627
Gene Symbol: TBCK
TBCK
CUI: C4317146
Disease:
Acid reflux 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1560755661
rs1560755661
Entrez Id: 93627
Gene Symbol: TBCK
TBCK
CUI: C0233283
Disease:
Complete breech presentation 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1560755661
rs1560755661
Entrez Id: 93627
Gene Symbol: TBCK
TBCK
CUI: C0263401
Disease:
Cutis marmorata 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1560755661
rs1560755661
Entrez Id: 93627
Gene Symbol: TBCK
TBCK
CUI: C0038450
Disease:
Stridor 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1560755661
rs1560755661
Entrez Id: 93627
Gene Symbol: TBCK
TBCK
CUI: C0040485
Disease:
Torticollis 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1560755661
rs1560755661
Entrez Id: 93627
Gene Symbol: TBCK
TBCK
CUI: C1854882
Disease:
Absent speech 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1560755661
rs1560755661
Entrez Id: 93627
Gene Symbol: TBCK
TBCK
CUI: C4072903
Disease:
Primary Caesarian section 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1560755661
rs1560755661
Entrez Id: 93627
Gene Symbol: TBCK
TBCK
CUI: C0151526
Disease:
Premature Birth 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1560755661
rs1560755661
Entrez Id: 93627
Gene Symbol: TBCK
TBCK
CUI: C3278923
Disease:
Dilated ventricles (finding) 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1560755661
rs1560755661
Entrez Id: 93627
Gene Symbol: TBCK
TBCK
CUI: C4225161
Disease:
HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1560755661
rs1560755661
Entrez Id: 93627
Gene Symbol: TBCK
TBCK
CUI: C0014877
Disease:
Esotropia 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1560755661
rs1560755661
Entrez Id: 93627
Gene Symbol: TBCK
TBCK
CUI: C4072872
Disease:
obsolete Rod-cone dystrophy 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1560755661
rs1560755661
Entrez Id: 93627
Gene Symbol: TBCK
TBCK
CUI: C0015672
Disease:
Fatigue 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1560755661
rs1560755661
Entrez Id: 93627
Gene Symbol: TBCK
TBCK
CUI: C4072904
Disease:
Secondary Caesarian section 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1560755661
rs1560755661
Entrez Id: 93627
Gene Symbol: TBCK
TBCK
CUI: C2673431
Disease:
Abnormality of the periventricular white matter 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1560755661
rs1560755661
Entrez Id: 93627
Gene Symbol: TBCK
TBCK
CUI: C0557874
Disease:
Global developmental delay 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1560755661
rs1560755661
Entrez Id: 93627
Gene Symbol: TBCK
TBCK
CUI: C1837142
Disease:
Poor suck 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1560755661
rs1560755661
Entrez Id: 93627
Gene Symbol: TBCK
TBCK
CUI: C4021217
Disease:
EEG with generalized slow activity 		A 0.700 CausalMutation CLINVAR