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 		0.800 GeneticVariation UNIPROT Recessive Inactivating Mutations in TBCK, Encoding a Rab GTPase-Activating Protein, Cause Severe Infantile Syndromic Encephalopathy. 27040692 2016
dbSNP: rs869320711
rs869320711
Entrez Id: 93627
Gene Symbol: TBCK
TBCK
CUI: C4225161
Disease:
HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3 		0.800 GeneticVariation UNIPROT Mutations in TBCK, Encoding TBC1-Domain-Containing Kinase, Lead to a Recognizable Syndrome of Intellectual Disability and Hypotonia. 27040691 2016
dbSNP: rs869320711
rs869320711
Entrez Id: 93627
Gene Symbol: TBCK
TBCK
CUI: C4225161
Disease:
HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3 		0.800 GeneticVariation UNIPROT Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families. 25558065 2015
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: rs1057518332
rs1057518332
Entrez Id: 93627
Gene Symbol: TBCK
TBCK
CUI: C4225161
Disease:
HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3 		A 0.700 CausalMutation CLINVAR Mutations in TBCK, Encoding TBC1-Domain-Containing Kinase, Lead to a Recognizable Syndrome of Intellectual Disability and Hypotonia. 27040691 2016
dbSNP: rs1057518332
rs1057518332
Entrez Id: 93627
Gene Symbol: TBCK
TBCK
CUI: C4225161
Disease:
HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3 		A 0.700 CausalMutation CLINVAR Recessive Inactivating Mutations in TBCK, Encoding a Rab GTPase-Activating Protein, Cause Severe Infantile Syndromic Encephalopathy. 27040692 2016
dbSNP: rs575822089
rs575822089
Entrez Id: 93627
Gene Symbol: TBCK
TBCK
CUI: C4225161
Disease:
HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3 		A 0.700 CausalMutation CLINVAR Mutations in TBCK, Encoding TBC1-Domain-Containing Kinase, Lead to a Recognizable Syndrome of Intellectual Disability and Hypotonia. 27040691 2016
dbSNP: rs575822089
rs575822089
Entrez Id: 93627
Gene Symbol: TBCK
TBCK
CUI: C4225161
Disease:
HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3 		A 0.700 CausalMutation CLINVAR Recessive Inactivating Mutations in TBCK, Encoding a Rab GTPase-Activating Protein, Cause Severe Infantile Syndromic Encephalopathy. 27040692 2016
dbSNP: rs869320769
rs869320769
Entrez Id: 93627
Gene Symbol: TBCK
TBCK
CUI: C4225161
Disease:
HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3 		GTA 0.700 CausalMutation CLINVAR Mutations in TBCK, Encoding TBC1-Domain-Containing Kinase, Lead to a Recognizable Syndrome of Intellectual Disability and Hypotonia. 27040691 2016
dbSNP: rs1057518332
rs1057518332
Entrez Id: 93627
Gene Symbol: TBCK
TBCK
CUI: C4225161
Disease:
HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3 		A 0.700 CausalMutation CLINVAR TBCK influences cell proliferation, cell size and mTOR signaling pathway. 23977024 2013
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