TBCE, tubulin folding cofactor E, 6905

N. diseases: 146; N. variants: 15
Disease: Osteosclerosis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0029464
Disease: Osteosclerosis
Osteosclerosis 		0.300 Biomarker disease CTD_human Mutation of TBCE causes hypoparathyroidism-retardation-dysmorphism and autosomal recessive Kenny-Caffey syndrome. 12389028 2002