Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6905
Gene Symbol: TBCE
TBCE
0.020 GeneticVariation disease BEFREE Loss-of-function mutations in TBCE, encoding one of the five tubulin-specific chaperones involved in tubulin folding and polymerization, cause two rare neurodevelopmental syndromes, hypoparathyroidism-retardation-dysmorphism and Kenny-Caffey syndrome. 27666369 2016
Entrez Id: 6905
Gene Symbol: TBCE
TBCE
0.020 GeneticVariation disease BEFREE Mutation of TBCE causes hypoparathyroidism-retardation-dysmorphism and autosomal recessive Kenny-Caffey syndrome. 12389028 2002