TBCK, TBC1 domain containing kinase, 93627

N. diseases: 85; N. variants: 11
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4225161
Disease: HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3
HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3 		0.700 GeneticVariation disease CLINVAR
CUI: C4225161
Disease: HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3
HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3 		0.700 Biomarker disease CTD_human
CUI: C0036572
Disease: Seizures
Seizures 		0.400 CausalMutation phenotype CLINVAR
CUI: C0036572
Disease: Seizures
Seizures 		0.400 Biomarker phenotype HPO
CUI: C1168401
Disease: Squamous cell carcinoma of the head and neck
Squamous cell carcinoma of the head and neck 		0.300 GeneticVariation disease UNIPROT
CUI: C1319315
Disease: Adenocarcinoma of large intestine
Adenocarcinoma of large intestine 		0.300 GeneticVariation disease UNIPROT
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.110 GeneticVariation disease CLINVAR
CUI: C0085584
Disease: Encephalopathies
Encephalopathies 		0.110 Biomarker group HPO
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.110 GeneticVariation disease CLINVAR
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.110 CausalMutation disease CLINVAR
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		0.100 CausalMutation disease CLINVAR
CUI: C0006157
Disease: Breech Presentation
Breech Presentation 		0.100 CausalMutation phenotype CLINVAR
CUI: C0014877
Disease: Esotropia
Esotropia 		0.100 CausalMutation disease CLINVAR
CUI: C0015672
Disease: Fatigue
Fatigue 		0.100 CausalMutation phenotype CLINVAR
CUI: C0022346
Disease: Icterus
Icterus 		0.100 CausalMutation phenotype CLINVAR
CUI: C0023529
Disease: Leukomalacia, Periventricular
Leukomalacia, Periventricular 		0.100 Biomarker disease HPO
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation phenotype CLINVAR
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation phenotype CLINVAR
CUI: C0028738
Disease: Nystagmus
Nystagmus 		0.100 CausalMutation disease CLINVAR
CUI: C0035229
Disease: Respiratory Insufficiency
Respiratory Insufficiency 		0.100 Biomarker phenotype HPO
CUI: C0038450
Disease: Stridor
Stridor 		0.100 CausalMutation phenotype CLINVAR
CUI: C0040485
Disease: Torticollis
Torticollis 		0.100 CausalMutation phenotype CLINVAR
CUI: C0151526
Disease: Premature Birth
Premature Birth 		0.100 CausalMutation phenotype CLINVAR
CUI: C0151888
Disease: Hyporeflexia
Hyporeflexia 		0.100 Biomarker phenotype HPO
CUI: C0233283
Disease: Complete breech presentation
Complete breech presentation 		0.100 CausalMutation phenotype CLINVAR