TBCD, tubulin folding cofactor D, 6904

N. diseases: 129; N. variants: 24
Disease: West Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0037769
Disease: West Syndrome
West Syndrome 		0.300 Biomarker disease GENOMICS_ENGLAND Biallelic TBCD Mutations Cause Early-Onset Neurodegenerative Encephalopathy. 27666374 2016