TBCK, TBC1 domain containing kinase, 93627

N. diseases: 85; N. variants: 11
Disease: HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3 ×
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: C4225161
Disease:
HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1560929669
rs1560929669
Entrez Id: 93627
Gene Symbol: TBCK
TBCK
CUI: C4225161
Disease:
HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs374319146
rs374319146
Entrez Id: 93627
Gene Symbol: TBCK
TBCK
CUI: C4225161
Disease:
HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3 		T 0.700 CausalMutation CLINVAR
dbSNP: rs376699648
rs376699648
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: rs62321379
rs62321379
Entrez Id: 93627
Gene Symbol: TBCK
TBCK
CUI: C4225161
Disease:
HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3 		C 0.700 CausalMutation CLINVAR
dbSNP: rs62321379
rs62321379
Entrez Id: 93627
Gene Symbol: TBCK
TBCK
CUI: C4225161
Disease:
HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3 		C 0.700 GeneticVariation CLINVAR
dbSNP: rs746860249
rs746860249
Entrez Id: 93627
Gene Symbol: TBCK
TBCK
CUI: C4225161
Disease:
HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3 		G 0.700 CausalMutation CLINVAR
dbSNP: rs771481304
rs771481304
Entrez Id: 93627
Gene Symbol: TBCK
TBCK
CUI: C4225161
Disease:
HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3 		C 0.700 CausalMutation CLINVAR