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: 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
dbSNP: rs1560755661
rs1560755661
Entrez Id: 93627
Gene Symbol: TBCK
TBCK
CUI: C0036572
Disease:
Seizures 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1560755661
rs1560755661
Entrez Id: 93627
Gene Symbol: TBCK
TBCK
CUI: C0549400
Disease:
Low APGAR score 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1560755661
rs1560755661
Entrez Id: 93627
Gene Symbol: TBCK
TBCK
CUI: C0920299
Disease:
Overriding toe 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1560755661
rs1560755661
Entrez Id: 93627
Gene Symbol: TBCK
TBCK
CUI: C1836791
Disease:
Tortuous cerebral arteries 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1560755661
rs1560755661
Entrez Id: 93627
Gene Symbol: TBCK
TBCK
CUI: C0344482
Disease:
Hypoplasia of corpus callosum 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1560755661
rs1560755661
Entrez Id: 93627
Gene Symbol: TBCK
TBCK
CUI: C1842364
Disease:
Central hypotonia 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1560755661
rs1560755661
Entrez Id: 93627
Gene Symbol: TBCK
TBCK
CUI: C0026827
Disease:
Muscle hypotonia 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1560755661
rs1560755661
Entrez Id: 93627
Gene Symbol: TBCK
TBCK
CUI: C0266121
Disease:
Congenital absence of uvula 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1560755661
rs1560755661
Entrez Id: 93627
Gene Symbol: TBCK
TBCK
CUI: C0006157
Disease:
Breech Presentation 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1560755661
rs1560755661
Entrez Id: 93627
Gene Symbol: TBCK
TBCK
CUI: C1839767
Disease:
Tented upper lip vermilion 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1560755661
rs1560755661
Entrez Id: 93627
Gene Symbol: TBCK
TBCK
CUI: C1845847
Disease:
Coarse facial features 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1560755661
rs1560755661
Entrez Id: 93627
Gene Symbol: TBCK
TBCK
CUI: C0005745
Disease:
Blepharoptosis 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1560755661
rs1560755661
Entrez Id: 93627
Gene Symbol: TBCK
TBCK
CUI: C0028738
Disease:
Nystagmus 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1560755661
rs1560755661
Entrez Id: 93627
Gene Symbol: TBCK
TBCK
CUI: C0240635
Disease:
Byzanthine arch palate 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1560755661
rs1560755661
Entrez Id: 93627
Gene Symbol: TBCK
TBCK
CUI: C1839758
Disease:
Narrow forehead 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1560755661
rs1560755661
Entrez Id: 93627
Gene Symbol: TBCK
TBCK
CUI: C1854113
Disease:
Prominent nasal bridge 		A 0.700 CausalMutation CLINVAR