Source: ALL

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 93627
Gene Symbol: TBCK
TBCK
CUI: C0270971
Disease: Floppy infant syndrome
Floppy infant syndrome 		0.020 Biomarker BEFREE Further delineation of TBCK - Infantile hypotonia with psychomotor retardation and characteristic facies type 3. 30103036

2019
Entrez Id: 93627
Gene Symbol: TBCK
TBCK
CUI: C0270971
Disease: Floppy infant syndrome
Floppy infant syndrome 		0.020 GeneticVariation BEFREE The neurological phenotype of children with TBCK p.R126X mutations, which we call TBCK-encephaloneuronopathy (TBCKE), include congenital hypotonia, progressive motor neuronopathy, leukoencephalopathy, and epilepsy. 29283439

2018