TBCD, tubulin folding cofactor D, 6904

N. diseases: 129; N. variants: 24
Disease: Paralysis, Spinal, Quadriplegic ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0751461
Disease: Paralysis, Spinal, Quadriplegic
Paralysis, Spinal, Quadriplegic 		0.300 Biomarker phenotype CTD_human Biallelic Mutations in TBCD, Encoding the Tubulin Folding Cofactor D, Perturb Microtubule Dynamics and Cause Early-Onset Encephalopathy. 27666370 2016