TBCD, tubulin folding cofactor D, 6904

N. diseases: 129; N. variants: 24
Disease: Respiratory Insufficiency ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0035229
Disease: Respiratory Insufficiency
Respiratory Insufficiency 		0.400 Biomarker phenotype CTD_human Biallelic TBCD Mutations Cause Early-Onset Neurodegenerative Encephalopathy. 27666374 2016
CUI: C0035229
Disease: Respiratory Insufficiency
Respiratory Insufficiency 		0.400 Biomarker phenotype HPO