Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6904
Gene Symbol: TBCD
TBCD
0.320 GeneticVariation group BEFREE Most recently, variants in the tubulin cofactor D (TBCD) gene, which encodes one of the five co-chaperones required for assembly and disassembly of α/β-tubulin heterodimer, were reported to underlie a recessive neurodevelopmental/neurodegenerative disorder. 27807845 2017
Entrez Id: 6904
Gene Symbol: TBCD
TBCD
0.320 GeneticVariation group BEFREE Infantile neurodegenerative disorder associated with mutations in TBCD, an essential gene in the tubulin heterodimer assembly pathway. 28158450 2016
Entrez Id: 6904
Gene Symbol: TBCD
TBCD
0.320 Biomarker group CTD_human Biallelic Mutations in TBCD, Encoding the Tubulin Folding Cofactor D, Perturb Microtubule Dynamics and Cause Early-Onset Encephalopathy. 27666370 2016