TBCD, tubulin folding cofactor D, 6904

N. diseases: 129; N. variants: 24
Disease: ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs755177846
rs755177846
Entrez Id: 6904
Gene Symbol: TBCD
TBCD
CUI: C4310671
Disease:
ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM 		0.800 GeneticVariation UNIPROT Microcephaly, intractable seizures and developmental delay caused by biallelic variants in TBCD: further delineation of a new chaperone-mediated tubulinopathy. 27807845 2017
dbSNP: rs755177846
rs755177846
Entrez Id: 6904
Gene Symbol: TBCD
TBCD
CUI: C4310671
Disease:
ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM 		0.800 GeneticVariation UNIPROT Biallelic Mutations in TBCD, Encoding the Tubulin Folding Cofactor D, Perturb Microtubule Dynamics and Cause Early-Onset Encephalopathy. 27666370 2016
dbSNP: rs755177846
rs755177846
Entrez Id: 6904
Gene Symbol: TBCD
TBCD
CUI: C4310671
Disease:
ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM 		0.800 GeneticVariation UNIPROT Infantile neurodegenerative disorder associated with mutations in TBCD, an essential gene in the tubulin heterodimer assembly pathway. 28158450 2016
dbSNP: rs755177846
rs755177846
Entrez Id: 6904
Gene Symbol: TBCD
TBCD
CUI: C4310671
Disease:
ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM 		0.800 GeneticVariation UNIPROT Biallelic TBCD Mutations Cause Early-Onset Neurodegenerative Encephalopathy. 27666374 2016
dbSNP: rs755177846
rs755177846
Entrez Id: 6904
Gene Symbol: TBCD
TBCD
CUI: C4310671
Disease:
ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM 		T 0.800 CausalMutation CLINVAR