Source: CURATED

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6904
Gene Symbol: TBCD
TBCD
CUI: C0036572
Disease: Seizures
Seizures 		0.610 Biomarker CTD_human We report that biallelic mutations in TBCD, encoding one of the five co-chaperones required for assembly and disassembly of the αβ-tubulin heterodimer, the structural unit of microtubules, cause a disease with neurodevelopmental and neurodegenerative features characterized by early-onset cortical atrophy, secondary hypomyelination, microcephaly, thin corpus callosum, developmental delay, intellectual disability, seizures, optic atrophy, and spastic quadriplegia. 27666370

2016
Entrez Id: 6904
Gene Symbol: TBCD
TBCD
CUI: C0036572
Disease: Seizures
Seizures 		0.610 Biomarker GENOMICS_ENGLAND Biallelic TBCD Mutations Cause Early-Onset Neurodegenerative Encephalopathy. 27666374

2016