TBCE, tubulin folding cofactor E, 6905

N. diseases: 10; N. variants: 15
Disease: Facies ×
Source: CURATED ×
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0282631
Disease: Facies
Facies 		0.300 Biomarker group CTD_human Mutation of TBCE causes hypoparathyroidism-retardation-dysmorphism and autosomal recessive Kenny-Caffey syndrome. 12389028 2002